Phenotypes associated with this allele

• Allele Symbol: Tg(Nes-cre)1Kln
• Allele Name: transgene insertion 1, Rudiger Klein
• Allele ID: MGI:2176173
• Summary: 364 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ank2^tm4.1Bnt/Ank2^+ Tg(Nes-cre)1Kln/0	B6.Cg-Ank2^tm4.1Bnt Tg(Nes-cre)1Kln	MGI:6790243
cn2	Ccm2^tm1Etl/Ccm2^tm1Etl Tg(Nes-cre)1Kln/?	B6.Cg-Ccm2^tm1Etl Tg(Nes-cre)1Kln	MGI:3837691
cn3	Foxa2^tm1.1Stf/Foxa2^tm1.1Stf Tg(Nes-cre)1Kln/0	B6.Cg-Foxa2^tm1.1Stf Tg(Nes-cre)1Kln	MGI:4417949
cn4	Gt(ROSA)26Sor^em1(CAG-Zbtb21,-GFP)Jhan/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	B6.Cg-Gt(ROSA)26Sor^em1(CAG-Zbtb21,-GFP)Jhan Tg(Nes-cre)1Kln	MGI:7705527
cn5	Kalrn^tm2Npl/Kalrn^tm2Npl Tg(Nes-cre)1Kln/0	B6.Cg-Kalrn^tm2Npl Tg(Nes-cre)1Kln	MGI:5551312
cn6	Mc3r^tm1Butl/Mc3r^tm1Butl Tg(Nes-cre)1Kln/0	B6.Cg-Mc3r^tm1Butl Tg(Nes-Cre)1Kln	MGI:5302397
cn7	Myd88^tm1Jcbr/Myd88^tm1Jcbr Tg(Nes-cre)1Kln/0	B6.Cg-Myd88^tm1Jcbr Tg(Nes-cre)1Kln	MGI:4367075
cn8	Prmt5^tm2c(EUCOMM)Wtsi/Prmt5^tm2c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	B6.Cg-Prmt5^tm2c(EUCOMM)Wtsi Tg(Nes-cre)1Kln	MGI:5546601
cn9	Slc1a2^tm1.1Ncd/Slc1a2^tm1.1Ncd Tg(Nes-cre)1Kln/0	B6.Cg-Slc1a2^tm1.1Ncd Tg(Nes-cre)1Kln	MGI:5576464
cn10	Slc6a12^tm1.1Ncd/Slc6a12^tm1.1Ncd Tg(Nes-cre)1Kln/0	B6.Cg-Slc6a12^tm1.1Ncd Tg(Nes-cre)1Kln	MGI:5306259
cn11	Ndufs4^tm1Rpa/Ndufs4^tm1Rpa Tg(Nes-cre)1Kln/0	B6.Cg-Tg(Nes-cre)1Kln Ndufs4^tm1Rpa	MGI:5451025
cn12	Tg(Nes-cre)1Kln/0 Tg(ACTB-NOTCH1)1Shn/0	B6.Cg-Tg(Nes-cre)1Kln Tg(ACTB-NOTCH1)1Shn	MGI:3044595
cn13	Uba6^tm1Whpr/Uba6^tm1Whpr Tg(Nes-cre)1Kln/0	B6.Cg-Uba6^tm1Whpr Tg(Nes-cre)1Kln	MGI:5511126
cn14	Tg(CAG-Ppard*E411P)#Als/0 Tg(Nes-cre)1Kln/0	B6J.Cg-Tg(Nes-cre)1Kln Tg(CAG-Ppard*E411P)#Als	MGI:5897176
cn15	Abcb7^tm1Mdf/Y Tg(Nes-cre)1Kln/0	either: B6.Cg-Tg(Nes-cre)1Kln Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * SJL)	MGI:3629065
cn16	Rai1^tm2.2Luo/Rai1^+ Tg(Nes-cre)1Kln/?	either: (involves: 129S1/Sv * C57BL/6 * SJL) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)	MGI:5817608
cn17	Rai1^tm2.1Luo/Rai1^tm2.1Luo Tg(Nes-cre)1Kln/?	either: (involves: 129S1/Sv * C57BL/6 * SJL) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)	MGI:5817471
cn18	Rai1^tm2.2Luo/Rai1^tm2.1Luo Tg(Nes-cre)1Kln/?	either: (involves: 129S1/Sv * C57BL/6 * SJL) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)	MGI:5817614
cn19	Rai1^tm2.1Luo/Rai1^+ Tg(Nes-cre)1Kln/?	either: (involves: 129S1/Sv * C57BL/6 * SJL) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)	MGI:5817609
cn20	Sox2^tm2Skn/Sox2^tm4.1Skn Tg(Nes-cre)1Kln/0	either: (involves: 129S/Sv * C57BL/6 * SJL) or (involves: 129S/Sv * C57BL/6 * DBA/2 * SJL)	MGI:4398746
cn21	Stat5a^tm2Mam/Stat5a^tm2Mam Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Nes-cre)1Kln/0	involves: 129 * 129S6/SvEvTac * C57BL/6 * SJL	MGI:4840275
cn22	Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Nes-cre)1Kln/0	involves: 129 * 129S6/SvEvTac * C57BL/6 * SJL	MGI:4840276
cn23	Cfl1^tm1.1Wit/Cfl1^+ Dstn^tm1.1Wit/Dstn^tm1.1Wit Tg(Nes-cre)1Kln/0	involves: 129 * BALB/cJ * C57BL/6 * SJL	MGI:4943294
cn24	Socs3^tm1Ayos/Socs3^tm1Ayos Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6	MGI:3051638
cn25	Slc6a8^tm1.1Lbar/Y Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * C57BL/6J * C57BL/6N * SJL	MGI:5825029
cn26	Efr3b^tm1Gpt/Efr3b^tm1Gpt Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * C57BL/6J * SJL	MGI:7595582
cn27	Abl1^tm2.1Goff/Abl1^tm2.1Goff Abl2^tm1Ajk/Abl2^tm1Ajk Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * C57BL/6J * SJL	MGI:4850044
cn28	Tnfrsf11a^tm1.1Pngr/Tnfrsf11a^tm1.2Pngr Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * C57BL/6NTac * SJL	MGI:4415816
cn29	Gnl3^tm2.1Rylt/Gnl3^tm2.1Rylt Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * CBA	MGI:5523421
cn30	Ahi1^tm1Jgg/Ahi1^tm2.1Jgg Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * FVB/N * SJL	MGI:4437796
cn31	Efr3a^tm1Bgsn/Efr3a^tm1Bgsn Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6J * SJL	MGI:6358565
cn32	Brca2^tm1Brn/Brca2^tm1Brn Ptch1^tm1Mps/Ptch1^+ Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:3831343
cn33	Braf^tm2Urr/Braf^tm2Urr Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5512711
cn34	Gt(ROSA)26Sor^tm2(SNCA*119)Djmo/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:4353817
cn35	Braf^tm2.1Urr/Braf^tm2.1Urr Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5512710
cn36	Hsd17b4^tm2Baes/Hsd17b4^tm2Baes Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5523950
cn37	Brca2^tm1Brn/Brca2^tm1Brn Ptch1^tm1Mps/Ptch1^+ Trp53^tm1Tyj/Trp53^+ Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:3831342
cn38	Golga2^tm1.1Baos/Golga2^tm1.1Baos Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:6358689
cn39	Shc1^tm1Ravi/Shc1^tm1Ravi Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:3851590
cn40	Tg(EEF1A1-SHC1*)1Ravi/0 Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:3851591
cn41	Ccdc88a^tm4.1Mat/Ccdc88a^+ Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5449209
cn42	Cap1^tm1.1Mbrst/Cap1^tm1.1Mbrst Cfl1^tm1.1Wit/Cfl1^tm1.1Wit Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:7443115
cn43	Asic1^tm1.1Ccli/Asic1^tm1.1Ccli Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5490900
cn44	Sp2^tm1.1Htg/Sp2^+ Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5471311
cn45	Ccdc88a^tm4.1Mat/Ccdc88a^tm4.1Mat Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5449208
cn46	Sp2^tm1.1Htg/Sp2^tm1.1Htg Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5471309
cn47	Gt(ROSA)26Sor^tm1(SNCA*A53T)Djmo/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:4353815
cn48	Tg(Nes-cre)1Kln/0 Thra^tm1Ffla/Thra^+	involves: 129 * C57BL/6 * SJL	MGI:6317188
cn49	Deaf1^tm1.1Mico/Deaf1^tm1.1Mico Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5576197
cn50	Gt(ROSA)26Sor^em1(Tor1b)Wtd/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:6710963
cn51	Pdcd10^tm1Wami/Pdcd10^tm1Wami Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:5002665
cn52	Tg(Nes-cre)1Kln/0 Thra^em6Ffla/Thra^+	involves: 129 * C57BL/6 * SJL	MGI:6317187
cn53	Mycn^tm1Psk/Mycn^tm1Psk Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:3836814
cn54	Fbxw7^tm1.1Axbe/Fbxw7^tm1.1Axbe Notch1^tm1Agt/Notch1^+ Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:4867645
cn55	Ahi1^tm1Xjl/Ahi1^tm1Xjl Tg(Nes-cre)1Kln/0	involves: 129 * C57BL/6 * SJL	MGI:4849288
cn56	Fos^tm7Wag/Fos^tm7Wag Tg(Nes-cre)1Kln/?	involves: 129P2/OlaHsd	MGI:2679378
cn57	Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd Trp53^tm1Brn/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL	MGI:3710322
cn58	Met^tm1Cpo/Met^tm1Sst Tg(Nes-cre)1Kln/?	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL	MGI:5052134
cn59	Braf^tm1Sva/Braf^tm1.1Sva Raf1^tm1Bacc/Raf1^tm2Bacc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3713581
cn60	Braf^tm1Sva/Braf^tm1Sva Raf1^tm2Bacc/Raf1^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3713555
cn61	Met^tm1Cpo/Met^tm1Sst Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5285657
cn62	Pitx2^tm1.1Dmm/Pitx2^tm1.1Sac Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5308810
cn63	Braf^tm1Wds/Braf^tm1.1Wds Raf1^tm1Bacc/Raf1^tm2Bacc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3713654
cn64	Brca2^tm1Brn/Brca2^tm1Brn Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL	MGI:3831341
cn65	Atr^tm2Bal/Atr^tm2Bal Cdkn2a^tm2Brn/Cdkn2a^tm2Brn Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL	MGI:5316228
cn66	Brca2^tm1Brn/Brca2^tm1Brn Trp53^tm1Tyj/Trp53^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL	MGI:3831340
cn67	Trp53^tm1Brn/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL	MGI:3710323
cn68	Ddb1^tm1Spg/Ddb1^tm1Spg Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL	MGI:3698834
cn69	Itgav^tm2Hyn/Itgav^tm2.1Hyn Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * FVB * SJL	MGI:5306156
cn70	Fto^tm1.1Pzg/Fto^tm1.1Pzg Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * SJL	MGI:4868751
cn71	Tbxa2r^tm1Cof/Tbxa2r^tm1.1Bhk Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL	MGI:5319079
cn72	Plec^tm4Gwi/Plec^tm4.1Gwi Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 * SJL	MGI:4414792
cn73	Gjc1^tm1Weil/Gjc1^tm1Weil Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3582060
cn74	Efnb2^tm4Kln/Efnb2^tm4Kln Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3026784
cn75	Gjc1^tm1Kwi/Gjc1^tm1Weil Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3582061
cn76	Plxnb1^tm1Matl/Plxnb1^tm1Matl Plxnb2^tm1c(EUCOMM)Wtsi/Plxnb2^tm1Matl Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * C57BL/6N * SJL	MGI:5811146
cn77	Plxnb2^tm1c(EUCOMM)Wtsi/Plxnb2^tm1Matl Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * C57BL/6N * SJL	MGI:5811236
cn78	Mapk8ip3^tm1Ysok/Mapk8ip3^tm1Ysok Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL	MGI:3818511
cn79	Dab1^tm1.1Mull/Dab1^tm1.1Mull Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL	MGI:5141431
cn80	Pdha1^tm1Ptl/Pdha1^tm1Ptl Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL	MGI:3843824
cn81	Pdha1^tm1Ptl/Y Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL	MGI:3843822
cn82	Cdc42^tm1.1Rac/Cdc42^tm1.1Rac Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL	MGI:5495326
cn83	Nr3c1^tm2Gsc/Nr3c1^tm2Gsc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6J * SJL	MGI:2176972
cn84	Morc2a^tm1.1Pngr/Morc2a^tm1.1Pngr Mphosph8^tm1c(EUCOMM)Wtsi/Mphosph8^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6N * SJL	MGI:7424798
cn85	Map2k1^tm1Bacc/Map2k1^tm1.1Bacc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5504405
cn86	Adk^tm2Bois/Adk^tm2Bois Adora1^tm1Bbf/Adora1^tm1Bbf Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5816716
cn87	Fbxw7^tm1.1Axbe/Fbxw7^tm1.1Axbe Jun^tm4Wag/Jun^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4867644
cn88	Morc2a^tm1.1Pngr/Morc2a^tm1.1Pngr Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:7424788
cn89	Txnrd2^tm1Marc/Txnrd2^tm1Marc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3778635
cn90	Txnrd1^tm1Marc/Txnrd1^tm1Marc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3778634
cn91	Ugcg^tm1Hjg/Ugcg^tm1.1Hjg Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3604768
cn92	Met^tm1Ics/Met^tm1Sst Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5285658
cn93	Tubb5^tm2.1Dak/Tubb5^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6119481
cn94	Atrip^tm1.1Pof/Atrip^tm1.1Pof Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6501209
cn95	Gjc1^tm1.1(Gjd2)Kwi/Gjc1^tm1.1(Gjd2)Kwi Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5317173
cn96	Jun^tm4Wag/Jun^tm4Wag Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5294554
cn97	Atrip^tm1.1Pof/Atrip^tm1.1Pof Tg(Nes-cre)1Kln/0 Trp53^tm1Brn/Trp53^tm1Brn	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6501211
cn98	Nf2^tm2Gth/Nf2^tm2Gth Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4819847
cn99	Braf^tm1Wds/Braf^tm1Wds Raf1^tm2Bacc/Raf1^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3713536
cn100	Trp53^tm1Brn/Trp53^tm1Brn Tubb5^tm2.1Dak/Tubb5^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6119482
cn101	Dbx1^tm1(DTA)Apie/Dbx1^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3770261
cn102	Tubb5^tm2.1Dak/Tubb5^tm2.1Dak Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6119483
cn103	Mecp2^tm1Bird/Y Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3624719
cn104	Braf^tm1Wds/Braf^+ Raf1^tm2Bacc/Raf1^tm2Bacc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3713540
cn105	Parl^tm1Bdes/Parl^tm1Bdes Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6280694
cn106	Met^tm1Sst/Met^tm1Sst Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:7703099
cn107	Ddb1^tm1Spg/Ddb1^tm1Spg Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3698831
cn108	Braf^tm1Wds/Braf^tm1.1Wds Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3713535
cn109	Nrg1^tm1Fej/Nrg1^tm1Fej Tg(Nes-cre)1Kln/?	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3835561
cn110	Braf^tm1Sva/Braf^+ Raf1^tm2Bacc/Raf1^tm2Bacc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3713653
cn111	Brca2^tm1Brn/Brca2^tm1Brn Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3831339
cn112	Tubb5^tm1.1Dak/Tubb5^tm1.1Dak Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6119480
cn113	Tcf4^tm1Hmb/Tcf4^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6157968
cn114	Nr3c1^tm2Gsc/Nr3c1^tm2Gsc Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3852117
cn115	Tubb5^tm1.1Dak/Tubb5^+ Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6119479
cn116	Adam10^tm2Psa/Adam10^tm2Psa Tg(Nes-cre)1Kln/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:4838242
cn117	Tshz1^tm1Garr/Tshz1^tm2.1Garr Tg(Nes-cre)1Kln/?	involves: 129S1/Sv * 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL	MGI:5588820
cn118	Lig4^tm1Pmc/Lig4^tm1Pmc Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL	MGI:3831348
cn119	Trp53^tm1Tyj/Trp53^tm1Tyj Xrcc2^tm2Pmc/Xrcc2^tm2Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL	MGI:3831338
cn120	Xrcc1^tm1Pmc/Xrcc1^tm1Pmc Trp53^tm1Tyj/Trp53^+ Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL	MGI:4359665
cn121	Lig4^tm1Pmc/Lig4^tm1Pmc Trp53^tm1Tyj/Trp53^+ Xrcc2^tm2Pmc/Xrcc2^tm2Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL	MGI:3831355
cn122	Lig4^tm1Pmc/Lig4^tm1Pmc Trp53^tm1Tyj/Trp53^tm1Tyj Xrcc2^tm2Pmc/Xrcc2^tm2Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL	MGI:3831351
cn123	Xrcc1^tm1Pmc/Xrcc1^tm1Pmc Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL	MGI:4359666
cn124	Actb^tm1(INSR)Dac/Actb^tm1(INSR)Dac Insr^tm1Dac/Insr^tm1Dac Tg(Nes-cre)1Kln/?	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * SJL	MGI:4831154
cn125	Gt(ROSA)26Sor^em1(Tor1b)Wtd/Gt(ROSA)26Sor^+ Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:6710964
cn126	Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:5605976
cn127	Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:5605973
cn128	Gt(ROSA)26Sor^em1(Tor1b)Wtd/Gt(ROSA)26Sor^+ Tor1a^tm1Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL	MGI:6710962
cn129	Vegfa^tm2Gne/Vegfa^+ Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL	MGI:4422199
cn130	Vegfa^tm2Gne/Vegfa^tm2.1Nagy Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL	MGI:4422207
cn131	Wdr45^tm1Beij/Wdr45^tm1Beij Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL	MGI:6385203
cn132	Wdr45^tm1Beij/Wdr45^+ Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL	MGI:6385204
cn133	Wdr45^tm1Beij/Y Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL	MGI:6385202
cn134	Gt(ROSA)26Sor^tm1(HD*103Q)Xwy/? Tg(Nes-cre)1Kln/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3584455
cn135	Shh^tm2Amc/Shh^tm2Amc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3617985
cn136	Edn2^tm1.1Nat/Edn2^tm1.1Nat Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5519893
cn137	Kdr^tm1Wag/Kdr^tm1Wag Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4422209
cn138	Irs2^tm2Mfw/Irs2^tm2Mfw Tg(Nes-cre)1Kln/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5705240
cn139	Gba1^tm1Karl/Gba1^tm1Karl Tg(Nes-cre)1Kln/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3764516
cn140	Braf^tm1Sva/Braf^tm1.1Sva Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3713552
cn141	Tg(Nes-cre)1Kln/0 Wnt7a^tm1Amc/Wnt7a^tm1Amc Wnt7b^tm1Parr/Wnt7b^tm2Amc	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3831188
cn142	Ei24^tm1Hzha/Ei24^tm1Hzha Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5475097
cn143	Nlgn3^tm4.1Sud/Y Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5660861
cn144	Lhx1^tm4Bhr/Lhx1^tm4Bhr Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3719686
cn145	Gt(ROSA)26Sor^tm1(Actb-Met)Fmai/? Tg(Nes-cre)1Kln/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5052135
cn146	Lhx1^tm1Tmj/Lhx1^tm4Bhr Lhx5^tm1Lmgd/Lhx5^tm1Lmgd Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3719689
cn147	Hsd11b1^tm1.2Awhi/Hsd11b1^tm1.2Awhi Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5566781
cn148	Dag1^tm2Kcam/Dag1^tm2Kcam Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4440460
cn149	Irs2^tm2Mfw/Irs2^tm2Mfw Irs4^tm1.1Mfw/Y Tg(Nes-cre)1Kln/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5705238
cn150	Smo^tm1Amc/Smo^tm2Amc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL * Swiss Webster	MGI:3665560
cn151	Pnkp^tm1.1Pmc/Pnkp^tm1.1Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5795748
cn152	Xrcc1^tm1Pmc/Xrcc1^tm1Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:4359667
cn153	Smarcb1^tm2Sho/Smarcb1^+ Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5771800
cn154	Smarcb1^tm2Sho/Smarcb1^tm2Sho Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5771799
cn155	Lig4^tm1Pmc/Lig4^tm1Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:3831346
cn156	Atm^tm2Pmc/Atm^tm2Pmc Pnkp^tm1.1Pmc/Pnkp^tm1.1Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:5795758
cn157	Xrcc2^tm2Pmc/Xrcc2^tm2Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:3831335
cn158	Xrcc1^tm1Pmc/Xrcc1^tm1Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/Sv * FVB/N	MGI:4946938
cn159	Lig4^tm1Pmc/Lig4^tm1Pmc Mre11a^tm1Jpt/Mre11a^tm1Jpt Tg(Nes-cre)1Kln/0	involves: 129S1/SvImJ * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3831179
cn160	Lig4^tm1Pmc/Lig4^tm1Pmc Nbn^tm1Jpt/Nbn^tm1Jpt Tg(Nes-cre)1Kln/0	involves: 129S1/SvImJ * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3831185
cn161	Atm^tm1Pmc/Atm^tm1Pmc Lig4^tm1Pmc/Lig4^tm1Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/SvImJ * C57BL/6 * SJL	MGI:3831182
cn162	Lig4^tm1Pmc/Lig4^tm1Pmc Tg(Nes-cre)1Kln/0	involves: 129S1/SvImJ * C57BL/6 * SJL	MGI:3831178
cn163	Rbfox1^tm1.1Dblk/Rbfox1^tm1.1Dblk Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL	MGI:5291908
cn164	Rbfox1^tm1.1Dblk/Rbfox1^+ Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL	MGI:5291909
cn165	Ext1^tm1Yama/Ext1^+ Slit2^tm1Matl/Slit2^tm1Matl Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6 * SJL	MGI:2682063
cn166	Trp53^tm1Tyj/Trp53^tm1Tyj Usp7^tm2Wgu/Usp7^tm2Wgu Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * SJL	MGI:5526849
cn167	Crhr1^tm2Wrst/Crhr1^tm2Wrst Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	MGI:5294457
cn168	Mbd5^tm1.1Gxu/Mbd5^tm1.1Gxu Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	MGI:5466593
cn169	Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	MGI:5291910
cn170	Rbfox1^tm1.1Dblk/Rbfox1^tm1.1Dblk Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	MGI:5318255
cn171	Rbfox1^tm1.1Dblk/Rbfox1^+ Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL	MGI:5318256
cn172	Pkd1^tm2.2Bol/Pkd1^tm3.1Bol Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac * SJL	MGI:4366028
cn173	Tg(ACTB-NOTCH1)1Shn/0 Tg(Nes-cre)1Kln/0 Trp53^tm1Tyj/Trp53^+	involves: 129S2/SvPas * C57BL/6J	MGI:3044602
cn174	Tg(ACTB-NOTCH1)1Shn/0 Tg(Nes-cre)1Kln/0 Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * C57BL/6J	MGI:3044601
cn175	Atr^tm2Bal/Atr^tm2Bal Trp53^tm1Tyj/Trp53^tm1Tyj Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5316227
cn176	Gja1^tm8Kwi/Gja1^+ Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3807708
cn177	Ccne1^tm3.1Pisc/Ccne1^tm3.1Pisc Ccne2^tm1Pisc/Ccne2^tm1Pisc Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5304330
cn178	Gt(ROSA)26Sor^tm1(Crh)Jde/Gt(ROSA)26Sor^tm1(Crh)Jde Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3815323
cn179	Ntrk2^tm2Kln/Ntrk2^tm2Kln Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:4840349
cn180	Atr^tm2Bal/Atr^tm2Bal Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5316221
cn181	Ptbp2^tm1.1Dblk/Ptbp2^tm1.1Dblk Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5608593
cn182	Atm^tm2Pmc/Atm^tm2Pmc Atr^tm2Bal/Atr^tm2Bal Tg(Nes-cre)1Kln/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5316230
cn183	Ptpn1^tm2Bbk/Ptpn1^tm2Bbk Ptpn2^tm1.1Ttig/Ptpn2^tm1.1Ttig Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL	MGI:5304839
cn184	Insr^tm1Khn/Insr^tm1Khn Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6J * SJL	MGI:3583775
cn185	Akt1^tm2Mbb/Akt1^tm2Mbb Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6J * SJL	MGI:5317892
cn186	Mc4r^tm1Lowl/Mc4r^tm1Lowl Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3692537
cn187	Mapk8^tm1Jcbr/Mapk8^tm1Jcbr Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:4441341
cn188	Trpm7^tm1Clph/Trpm7^tm1Clph Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:6220891
cn189	Insr^tm1Khn/Insr^tm1Khn Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3629045
cn190	Ptger3^tm1Csml/Ptger3^tm1Csml Tg(Nes-cre)1Kln/?	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3764896
cn191	Ptpn1^tm2Bbk/Ptpn1^+ Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3664098
cn192	Ptpn1^tm2Bbk/Ptpn1^tm2Bbk Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3664097
cn193	Drd2^tm1.1Mrub/Drd2^tm1.1Mrub Tg(Nes-cre)1Kln/?	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5471750
cn194	Cc2d1a^tm1.1Thkn/Cc2d1a^tm1.1Thkn Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:6459277
cn195	Adk^tm2Bois/Adk^tm2Bois Adora2a^tm1Jfc/Adora2a^tm1Jfc Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5816717
cn196	Gt(ROSA)26Sor^tm1(Kcnj11*V59M)Fmas/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:4819394
cn197	Vps18^tm1.1Wtao/Vps18^tm1.1Wtao Tg(Nes-cre)1Kln/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * SJL	MGI:5431979
cn198	Tg(Nes-cre)1Kln/0 Unk^tm1c(KOMP)Wtsi/Unk^tm1c(KOMP)Wtsi	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * SJL	MGI:7331610
cn199	Dab1^tm1Cpr/Dab1^tm1Cpr Rnf7^tm1c(EUCOMM)Wtsi/Rnf7^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * SJL	MGI:5545906
cn200	Dab1^tm1Cpr/Dab1^+ Rnf7^tm1c(EUCOMM)Wtsi/Rnf7^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * SJL	MGI:5545907
cn201	Rasgrf1^tm4.1Pds/Rasgrf1^+ Tg(Nes-cre)1Kln/0	involves: 129S4/SvJaeSor * C57BL/6 * SJL	MGI:3698137
cn202	Id1^tm3Bene/Id1^tm3Bene Id2^tm1Xdz/Id2^+ Id3^tm1Zhu/Id3^tm1Zhu Tg(Nes-cre)1Kln/0	involves: 129S4/SvJaeSor * C57BL/6 * SJL	MGI:5428947
cn203	Id1^tm3Bene/Id1^tm3Bene Id2^tm1Xdz/Id2^tm1Xdz Id3^tm1Zhu/Id3^tm1Zhu Tg(Nes-cre)1Kln/0	involves: 129S4/SvJaeSor * C57BL/6 * SJL	MGI:5428946
cn204	Ndufs4^tm1Rpa/Ndufs4^tm1Rpa Tg(Nes-cre)1Kln/0	involves: 129S4/SvJaeSor * C57BL/6 * SJL	MGI:4818648
cn205	Ext1^tm1Yama/Ext1^tm1Yama Tg(Nes-cre)1Kln/0	involves: 129S5/SvEvBrd * C57BL/6 * SJL	MGI:2682062
cn206	Trp53^tm1Brd/Trp53^+ Xrcc4^tm2.1Fwa/Xrcc4^tm2Fwa Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3652715
cn207	Trp53^tm1Brd/Trp53^tm1Brd Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3652719
cn208	Trp53^tm1Brd/Trp53^tm1Brd Xrcc4^tm2.1Fwa/Xrcc4^tm2Fwa Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3652717
cn209	Stk11^tm1.1Rdp/Stk11^tm1.1Rdp Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL	MGI:5524151
cn210	Bax^tm2Sjk/Bax^tm2Sjk Scyl2^tm1.1Spel/Scyl2^tm1.1Spel Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL	MGI:5752574
cn211	Scyl1^tm1Spel/Scyl1^tm1Spel Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5469975
cn212	Fgfr2^tm3Cxd/Fgfr2^+ Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:6415681
cn213	Usp7^tm2Wgu/Usp7^tm2Wgu Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL	MGI:5526848
cn214	Macf1^tm2.1Liem/Macf1^tm2.2Liem Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL	MGI:4831040
cn215	Irs2^tm1With/Irs2^tm1With Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:3576500
cn216	Mettl14^tm1.1Czhao/Mettl14^tm1.1Czhao Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6NCrl * SJL	MGI:6358181
cn217	Scyl2^tm1.1Spel/Scyl2^tm1.1Spel Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5752573
cn218	Ugcg^tm4Rlp/Ugcg^tm4Rlp Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4442808
cn219	Sirt1^tm3Fwa/Sirt1^tm3Fwa Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4881924
cn220	Gad1^tm1.1Bgc/Gad1^tm1Rpa Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4442419
cn221	Gli3^tm1Alj/Gli3^tm1Alj Tg(Nes-cre)1Kln/?	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3803099
cn222	Eif2ak4^tm1.1Dron/Eif2ak4^tm1.1Dron Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3806277
cn223	Zfx^tm1.1Reiz/Zfx^tm1.1Reiz Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3848809
cn224	Irs2^tm1With/Irs2^tm1With Tg(Nes-cre)1Kln/?	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3713798
cn225	Tg(Nes-cre)1Kln/0 Trio^tm1Mzhu/Trio^tm1Mzhu	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4839271
cn226	Xbp1^tm2Glm/Xbp1^tm2Glm Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3811309
cn227	Ugcg^tm1Rlp/Ugcg^tm4Rlp Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4442809
cn228	Gak^tm2Legr/Gak^tm2Legr Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5305777
cn229	Esrrb^tm1.1Nat/Esrrb^tm1.2Nat Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3723507
cn230	Zfx^tm1.1Reiz/Y Tg(Nes-cre)1Kln/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3848803
cn231	Ank3^tm3Bnt/Ank3^tm3Bnt Tg(Nes-cre)1Kln/?	involves: 129S6/SvEvTac * C57BL/6 * SJL/J	MGI:5829751
cn232	Aplp2^tm1Dbo/Aplp2^tm1Dbo App^tm1.1Zhe/App^tm1.1Zhe Tg(Nes-cre)1Kln/0	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL	MGI:4359070
cn233	Sptbn1^tm1.1Mnr/Sptbn1^tm1.1Mnr Tg(Nes-cre)1Kln/0	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL	MGI:5431704
cn234	Atg5^tm1Myok/Atg5^tm1Myok Tg(Nes-cre)1Kln/?	involves: 129S/SvEv * C57BL/6 * SJL	MGI:3713123
cn235	Crk^tm1Cur/Crk^tm1Cur Tg(Nes-cre)1Kln/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:3830067
cn236	Crkl^tm1Cur/Crkl^tm1Cur Tg(Nes-cre)1Kln/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:3830068
cn237	Tbp^tm1Xjl/Tbp^tm1Xjl Tg(Nes-cre)1Kln/?	involves: 129S/SvEv * C57BL/6 * SJL	MGI:5691953
cn238	Crk^tm1Cur/Crk^tm1Cur Crkl^tm1Cur/Crkl^tm1Cur Tg(Nes-cre)1Kln/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:3830069
cn239	Itgb8^tm1Lfr/Itgb8^tm2Lfr Tg(Nes-cre)1Kln/0	involves: 129/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3609116
cn240	Lhx1^tm1Tmj/Lhx1^+ Ret^tm1Kln/Ret^tm1Kln Tg(Nes-cre)1Kln/0	involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL	MGI:3662908
cn241	Ret^tm1Kln/Ret^tm1Kln Tg(Nes-cre)1Kln/0	involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL	MGI:3662906
cn242	Gmnn^tm1Tjm/Gmnn^tm1Tjm Tg(Nes-cre)1Kln/0	involves: 129/Sv * C57BL/6 * SJL	MGI:4999656
cn243	Bhlhe22^tm2.1Meg/Bhlhe22^tm2.1Meg Tg(Nes-cre)1Kln/0	involves: 129/Sv * C57BL/6 * SJL	MGI:4440899
cn244	Gmnn^tm1Tjm/Gmnn^+ Tg(Nes-cre)1Kln/0	involves: 129/Sv * C57BL/6 * SJL	MGI:4999657
cn245	Lgi1^tm2.1Jkc/Lgi1^tm2.1Jkc Tg(Nes-cre)1Kln/0	involves: 129/Sv * C57BL/6 * SJL	MGI:6275803
cn246	Ahr^tm3.1Bra/Ahr^tm3.1Bra Tg(Nes-cre)1Kln/0	involves: 129/Sv * C57BL/6 * SJL	MGI:6451067
cn247	Gli2^tm1Alj/Gli2^tm6Alj Tg(Nes-cre)1Kln/0	involves: 129/Sv * C57BL/6 * SJL * Swiss Webster	MGI:3665562
cn248	Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz Tg(Nes-cre)1Kln/0	involves: 129/SvEv * C57BL/6 * SJL	MGI:6382637
cn249	Pex13^tm1Crne/Pex13^tm1.1Crne Tg(Nes-cre)1Kln/0	involves: 129T2/SvEms * C57BL/6 * C57BL/6J * SJL	MGI:5636606
cn250	Ano3^tm1.1Lyj/Ano3^tm1.1Lyj Tg(Nes-cre)1Kln/0	involves: 129X1/SvJ * C57BL/6	MGI:6790222
cn251	Notch1^tm2Rko/Notch1^tm2Rko Tg(Nes-cre)1Kln/0	involves: 129X1/SvJ * C57BL/6J * SJL	MGI:3044600
cn252	Itgb1^tm1Lscd/Itgb1^tm1Mll Tg(Nes-cre)1Kln/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3703619
cn253	Ctnna1^tm1Efu/Ctnna1^tm1Efu Tg(Nes-cre)1Kln/?	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3720627
cn254	Gt(ROSA)26Sor^tm1(Smo/EYFP)Amc/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3844934
cn255	Itgb1^tm1Mll/Itgb1^tm1Mll Tg(Nes-cre)1Kln/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3789472
cn256	Smo^tm2Amc/Smo^tm2Amc Tg(Nes-cre)1Kln/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3844949
cn257	Ank3^tm2.1Bnt/Ank3^tm2.1Bnt Tg(Nes-cre)1Kln/?	involves: 129X1/SvJ * C57BL/6 * SJL/J	MGI:5829760
cn258	Celf2^tm1Yjin/Celf2^tm1Yjin Tg(Nes-cre)1Kln/0	involves: BALB/c * C57BL/6 * SJL	MGI:6307059
cn259	Kitl^tm2.1Sjm/Kitl^tm2.2Sjm Tg(Nes-cre)1Kln/0	involves: BALB/cJ * C57BL/6 * C57BL/Ka * SJL	MGI:5306353
cn260	Foxj1^tm1.1Ctk/Foxj1^tm1.2Ctk Tg(FOXJ1-EGFP)85Leo/0 Tg(Nes-cre)1Kln/0	involves: C3H * C57BL/6 * C57BL/6J * SJL	MGI:5285556
cn261	Pqbp1^tm1.1Hiok/Y Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J	MGI:6474216
cn262	Pqbp1^tm1.1Hiok/Pqbp1^+ Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J	MGI:6474219
cn263	Chd7^tm2c(EUCOMM)Wtsi/Chd7^tm2c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * C57BL/6N * SJL	MGI:7494277
cn264	Gys1^tm1c(EUCOMM)Wtsi/Gys1^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * C57BL/6N * SJL	MGI:5770262
cn265	Trim71^tm1695Arte/Trim71^tm1695Arte Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * C57BL/6NTac * SJL	MGI:7767876
cn266	Fars2^em3Chenk/Fars2^em3Chenk Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:7624363
cn267	Dnm1l^tm1.1Miha/Dnm1l^tm1.1Miha Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:4438714
cn268	Ncaph^tm1.1Hiran/Ncaph^tm1.2Hiran Ncaph2^tm1.1Hiran/Ncaph2^tm1.2Hiran Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:5703890
cn269	Ncaph2^tm1.1Hiran/Ncaph2^tm1.2Hiran Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:5703889
cn270	Ncaph^tm1.1Hiran/Ncaph^tm1.2Hiran Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:5703887
cn271	Prlh^tm2Smln/Prlh^tm2Smln Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:5634286
cn272	Smc2^tm1.1Hiran/Smc2^tm1.2Hiran Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:5703894
cn273	Gpr161^tm1.2Smuk/Gpr161^tm1.2Smuk Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:7341389
cn274	Ptpn2^tm1.1Ttig/Ptpn2^tm1.1Ttig Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:5304838
cn275	Ren1^tm1.1Sig/Ren1^tm1.1Sig Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:4939887
cn276	Marveld1^tm1.1Liy/Marveld1^tm1.1Liy Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:6377095
cn277	Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6J * SJL/J	MGI:5882503
cn278	Atg7^tm1Tchi/Atg7^tm1Tchi Tg(Nes-cre)1Kln/0 Wdr45b^tm1c(EUCOMM)Hmgu/Wdr45b^tm1c(EUCOMM)Hmgu	involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL	MGI:6480015
cn279	Chd7^tm2c(EUCOMM)Wtsi/Chd7^tm2c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:7493444
cn280	Socs7^tm1c(EUCOMM)Wtsi/Socs7^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:5545908
cn281	Ctsd^tm1.1Thre/Ctsd^tm1.1Thre Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:5702324
cn282	Rcor2^tm1c(EUCOMM)Wtsi/Rcor2^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:5897781
cn283	Rnf7^tm1c(EUCOMM)Wtsi/Rnf7^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:5545905
cn284	Slc9a9^tm2c(KOMP)Wtsi/Slc9a9^+ Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:6201595
cn285	Ufm1^tm1.1Kmts/Ufm1^tm1.1Kmts Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:6279163
cn286	Manf^tm1c(KOMP)Wtsi/Manf^tm1c(KOMP)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:6157765
cn287	Slc9a9^tm2c(KOMP)Wtsi/Slc9a9^tm2c(KOMP)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:6201594
cn288	Taok2^tm1.1Dkap/Taok2^tm1.1Dkap Tg(Nes-cre)1Kln/0	involves: C57BL/6 * C57BL/6NTac * SJL	MGI:5554943
cn289	Sfpq^tm1.1Takea/Sfpq^tm1.1Takea Tg(Nes-cre)1Kln/0	involves: C57BL/6 * CBA/JNCrlj * SJL	MGI:6360739
cn290	Sh3rf1^em1Bcgen/Sh3rf1^em1Bcgen Tg(Nes-cre)1Kln/0 Tg(Thy1-EGFP)MJrs/0	involves: C57BL/6 * CBA * SJL	MGI:7312058
cn291	Psmg1^tm1.1Smta/Psmg1^tm1.1Smta Tg(Nes-cre)1Kln/0	involves: C57BL/6 * CBA * SJL	MGI:4820735
cn292	Sqstm1^tm2.1Jmos/Sqstm1^tm2.1Jmos Tg(Nes-cre)1Kln/0	involves: C57BL/6 * DBA	MGI:5487466
cn293	Ldb1^tm2Lmgd/Ldb1^tm2Lmgd Tg(Nes-cre)1Kln/0	involves: C57BL/6 * FVB/N * SJL	MGI:3719691
cn294	Htra2^tm1.1Hohj/Htra2^tm1.1Hohj Tg(Nes-cre)1Kln/0	involves: C57BL/6J	MGI:5760304
cn295	Prdm15^tm1c(EUCOMM)Wtsi/Prdm15^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6J * C57BL/6N	MGI:6404011
cn296	Tg(Actb-NOTCH1)2Shn/0 Tg(Nes-cre)1Kln/0	involves: C57BL/6J * SJL	MGI:3044597
cn297	S1pr1^tm1Jch/S1pr1^tm1Jch Tg(Nes-cre)1Kln/0	involves: C57BL/6J * SJL	MGI:4939153
cn298	Tg(Nes-cre)1Kln/0 Zfp568^tm1Ckjs/Zfp568^tm1Ckjs	involves: C57BL/6J * SJL	MGI:5466414
cn299	Pdxp^tm1.1Ango/Pdxp^tm1.1Ango Tg(Nes-cre)1Kln/0	involves: C57BL/6J * SJL	MGI:6367628
cn300	Tg(ACTB-eGFP,-RAMP1)#Afru/0 Tg(Nes-cre)1Kln/0	involves: C57BL/6J * SJL/J	MGI:5306399
cn301	Atg7^tm1Tchi/Atg7^tm1Tchi Tg(Nes-cre)1Kln/0	involves: C57BL/6NCrlj * CBA/JNCrlj * SJL	MGI:6480014
cn302	Tg(Nes-cre)1Kln/0 Ube4b^em1Bcgen/Ube4b^em1Bcgen	involves: C57BL/6N * SJL	MGI:7657714
cn303	Kansl3^tm1.1Max/Kansl3^tm1.1Max Tg(Nes-cre)1Kln/0	involves: C57BL/6N * SJL	MGI:6455415
cn304	Mphosph8^tm1c(EUCOMM)Wtsi/Mphosph8^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6N * SJL	MGI:7424789
cn305	Rsf1^tm1c(EUCOMM)Wtsi/Rsf1^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6N * SJL	MGI:6367647
cn306	Snx6^tm1.1Nju/Snx6^tm1.1Nju Tg(Nes-cre)1Kln/0	involves: C57BL/6NTac * SJL	MGI:6368613
cn307	Use1^tm1.1Aha/Use1^tm1.1Aha Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3842575
cn308	Tg(Nes-cre)1Kln/0 Wdr45b^tm1c(EUCOMM)Hmgu/Wdr45b^tm1c(EUCOMM)Hmgu	involves: C57BL/6 * SJL	MGI:6480012
cn309	Gt(ROSA)26Sor^tm1(CAG-Rheb*)Pfw/Gt(ROSA)26Sor^+ Rheb^tm1Pfw/Rheb^tm1Pfw Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4939481
cn310	Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi Tg(Nes-cre)1Kln/?	involves: C57BL/6 * SJL	MGI:5052327
cn311	Stat3^tm1Flv/Stat3^tm1Flv Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3783343
cn312	Foxj1^tm1.1Ctk/Foxj1^tm1.2Ctk Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5285555
cn313	Ccl2^tm1.1Pame/Ccl2^tm1.1Pame Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4950280
cn314	Nr2e1^tm1Rev/Nr2e1^tm1Rev Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3777346
cn315	Kansl2^tm1c(EUCOMM)Wtsi/Kansl2^tm1c(EUCOMM)Wtsi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6455414
cn316	Nck1^tm1Paw/Nck1^tm1Paw Nck2^tm1Paw/Nck2^tm3Paw Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3769794
cn317	Gt(ROSA)26Sor^tm1(CAG-Rheb*)Pfw/Gt(ROSA)26Sor^tm1(CAG-Rheb*)Pfw Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4939482
cn318	Wdr91^tm2Bcgen/Wdr91^tm2Bcgen Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6368206
cn319	Cxcl12^tm1.1Sjm/Cxcl12^tm1.1Sjm Tg(Nes-cre)1Kln/?	involves: C57BL/6 * SJL	MGI:5488608
cn320	Fbxw7^tm1.1Axbe/Fbxw7^tm1.1Axbe Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4867643
cn321	Prrc2a^tm1Fcw/Prrc2a^tm1Fcw Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6724441
cn322	Rheb^tm1Pfw/Rheb^tm1Pfw Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4939480
cn323	Smad2^tm1.1Nomu/Smad2^tm1.1Nomu Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5085298
cn324	Prkar2b^tm3Gsm/Prkar2b^tm2Gsm Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5515334
cn325	Gt(ROSA)26Sor^em1(CAG-TMEM14B,-EGFP)Xqw/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6121121
cn326	Ptgs2^tm1Wlf/Ptgs2^tm1Wlf Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3837439
cn327	Gt(ROSA)26Sor^tm1(CAG-MFN2*T105M)Dple/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6198662
cn328	Tg(CAG-EGFP,-dsRed2/RNAi:Tardbp)6Zxu/0 Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5563084
cn329	Ndfip1^tm1Sest/Ndfip1^tm1Sest Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5313247
cn330	Sh3rf1^em1Bcgen/Sh3rf1^em1Bcgen Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:7312057
cn331	Atmin^tm1Axbe/Atmin^tm1Axbe Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4868763
cn332	Zbtb18^tm1.1Nda/Zbtb18^tm1.1Nda Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5425229
cn333	Mirc31^tm1.1Sjm/Mirc31^tm1.1Sjm Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5569526
cn334	Ccm2^tm1Kwhi/Ccm2^tm1Kwhi Tg(Nes-cre)1Kln/?	involves: C57BL/6 * SJL	MGI:5052329
cn335	Gt(ROSA)26Sor^tm2(CAG-Lancl1)Pfw/Gt(ROSA)26Sor^tm2(CAG-Lancl1)Pfw Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5646277
cn336	Camta1^tm1.1Eno/Camta1^tm1.1Eno Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5762853
cn337	Ncdn^tm2Afu/Ncdn^tm2Afu Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3605043
cn338	Cap1^tm1.1Mbrst/Cap1^tm1.1Mbrst Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:7443114
cn339	Map2k4^tm1Ctr/Map2k4^tm1Ctr Tg(Nes-cre)1Kln/?	involves: C57BL/6 * SJL	MGI:3769122
cn340	Auts2^tm1.1Dare/Auts2^tm1.1Dare Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5697531
cn341	Kif2c^em1Nju/Kif2c^em1Nju Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:7328688
cn342	Adk^tm2Bois/Adk^tm2Bois Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5816712
cn343	Nr2c2^tm1Bbm/Nr2c2^tm1Bbm Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5517371
cn344	Cic^tm1.1Jip/Cic^tm1.1Jip Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6455752
cn345	Pnpla6^tm1Mvc/Pnpla6^tm1Mvc Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3041706
cn346	Fgfr1^tm1Upir/Fgfr1^tm1Upir Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3641104
cn347	Lig3^tm1.1Pmc/Lig3^tm1.1Pmc Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4946935
cn348	Phf6^tm1.1Avo/Y Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6507211
cn349	Mycbp2^tm1.1Klsc/Mycbp2^tm1.1Klsc Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4939605
cn350	Mios^tm1Pfw/Mios^tm1Pfw Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6887923
cn351	Srgap3^tm1Ssod/Srgap3^tm1Ssod Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4941467
cn352	Gt(ROSA)26Sor^tm4(Wnt7a)Amc/? Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3831434
cn353	Kat8^tm1.2Avo/Kat8^tm1.2Avo Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6455413
cn354	Auts2^tm1.1Dare/Auts2^+ Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5697533
cn355	Ric8a^tm1.1Zhua/Ric8a^tm1.1Zhua Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5467518
cn356	Agap3^tm1Ygi/Agap3^tm1Ygi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6719551
cn357	Lhx2^tm1.1Ddmo/Lhx2^tm1.1Ddmo Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:4399058
cn358	Acot7^tm1.1Mwol/Acot7^tm1.1Mwol Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5528849
cn359	Gt(ROSA)26Sor^tm2(GFP/tetX)Gld/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3839916
cn360	Ccm2^tm1Kwhi/Ccm2^tm1.1Kwhi Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:3838804
cn361	Eva1a^tm1Nju/Eva1a^tm1Nju Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:6514806
cn362	Gt(ROSA)26Sor^tm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor^+ Tg(Nes-cre)1Kln/0 Tg(tetO-Vegfa)90Ala/0	mixed	MGI:3587022
cn363	Fgfr1^tm1Upir/Fgfr1^tm1Upir Tg(Mnx1-GFP)1Slp/? Tg(Nes-cre)1Kln/?	Not Specified	MGI:3767836
tg364	Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5004891

Genotype
MGI:6790243

cn1

• Allelic Composition: Ank2^tm4.1Bnt/Ank2⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Ank2^tm4.1Bnt Tg(Nes-cre)1Kln

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

enhanced spatial learning ( J:277752 )

♂ • slight in the acquisition and reversal phase of a Morris water maze

abnormal social/conspecific interaction behavior ( J:277752 )

♂ • males make small or no territory markings in response to female urine

decreased vocalization ( J:277752 )

♂ • fewer ultrasonic vocalization

nervous system

abnormal axon morphology ( J:277752 )

♂ • increased branching

Genotype
MGI:3837691

cn2

• Allelic Composition: Ccm2^tm1Etl/Ccm2^tm1Etl; Tg(Nes-cre)1Kln/?
• Genetic Background: B6.Cg-Ccm2^tm1Etl Tg(Nes-cre)1Kln

normal phenotype

no abnormal phenotype detected ( J:146210 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	cerebral cavernous malformation 2	DOID:0060670	OMIM:603284	J:146210

Genotype
MGI:4417949

cn3

• Allelic Composition: Foxa2^tm1.1Stf/Foxa2^tm1.1Stf; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Foxa2^tm1.1Stf Tg(Nes-cre)1Kln

homeostasis/metabolism

decreased circulating glucose level ( J:155391 )

• in fed mice and mice fed a high fat diet

decreased circulating insulin level ( J:155391 )

• in fasting mice and mice fed a high fat diet

decreased circulating free fatty acids level ( J:155391 )

• in mice fed regular chow or a high fat diet

increased carbon dioxide production ( J:155391 )

increased oxygen consumption ( J:155391 )

improved glucose tolerance ( J:155391 )

• glucose clearance is modestly increased compared to in wild-type mice

increased insulin sensitivity ( J:155391 )

• indicated by reduced fasting plasma insulin and free fatty acid

increased basal metabolism ( J:155391 )

behavior/neurological

increased fluid intake ( J:155391 )

• in mice fed a high fat diet

increased food intake ( J:155391 )

• in mice fed regular chow or a high fat diet

hyperactivity ( J:155391 )

adipose tissue

decreased total body fat amount ( J:155391 )

• in mice fed regular chow or a high fat diet

growth/size/body

increased lean body mass ( J:155391 )

• in mice fed regular chow or a high fat diet

Genotype
MGI:7705527

cn4

• Allelic Composition: Gt(ROSA)26Sor^{em1(CAG-Zbtb21,-GFP)Jhan}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Gt(ROSA)26Sor^{em1(CAG-Zbtb21,-GFP)Jhan} Tg(Nes-cre)1Kln

behavior/neurological

impaired contextual conditioning behavior ( J:351206 )

♂ • mice show reduced freezing time during the contextual part of the fear conditioning test

impaired spatial learning ( J:351206 )

♂ • mice show longer latency to find the target during the Morris water maze training on day 4

abnormal spatial reference memory ( J:351206 )

♂ • in the Morris water maze probe test, mice spend less time in the target quadrant

nervous system

decreased dendritic spine density ( J:351206 )

♂ • mice show a reduction in spine density in the hippocampus

abnormal postsynaptic density morphology ( J:351206 )

♂ • mice show a reduction in post synaptic density in hippocampal CA1

abnormal CNS synaptic transmission ( J:351206 )

♂ • mice show reduced basal synaptic transmission in hippocampal CA1 region

abnormal excitatory postsynaptic potential ( J:351206 )

♂ • mice exhibit reduced fEPSP amplitude in hippocampal CA1 region

reduced long-term potentiation ( J:351206 )

♂ • mice show compromised LTP, with reduced fEPSP amplitude in hippocampal CA1 region

Genotype
MGI:5551312

cn5

• Allelic Composition: Kalrn^tm2Npl/Kalrn^tm2Npl; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Kalrn^tm2Npl Tg(Nes-cre)1Kln

behavior/neurological

impaired coordination ( J:206512 )

• on a rotarod

Genotype
MGI:5302397

cn6

• Allelic Composition: Mc3r^tm1Butl/Mc3r^tm1Butl; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Mc3r^tm1Butl Tg(Nes-Cre)1Kln

growth/size/body

abnormal body fat mass ( J:178147 )

• increase in fat mass in mice on a standard diet is attenuated compared to homozygous mice not expressing the cre transgene

decreased lean body mass ( J:178147 )

• on a standard chow diet

increased susceptibility to diet-induced obesity ( J:178147 )

adipose tissue

abnormal body fat mass ( J:178147 )

• increase in fat mass in mice on a standard diet is attenuated compared to homozygous mice not expressing the cre transgene

homeostasis/metabolism

increased susceptibility to diet-induced obesity ( J:178147 )

Genotype
MGI:4367075

cn7

• Allelic Composition: Myd88^tm1Jcbr/Myd88^tm1Jcbr; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Myd88^tm1Jcbr Tg(Nes-cre)1Kln

homeostasis/metabolism

increased energy expenditure ( J:153664 )

• at 12 weeks, male mice fed a high fat diet exhibit increased energy expenditure during the nighttime compared with similarly treated wild-type mice

decreased susceptibility to diet-induced obesity ( J:153664 )

• when fed a high fat diet, mice exhibit reduced weight gain and female mice exhibit no weight gain unlike similarly treated wild-type mice

abnormal glucose homeostasis ( J:153664 )

• mice fed a high fat diet exhibit a blunted impairment of glucose and insulin tolerance and insulin serum levels compared with similarly treated wild-type mice

decreased circulating insulin level ( J:153664 )

• in male mice fed a high fat diet compared with similarly treated wild-type mice

increased insulin sensitivity ( J:153664 )

• when fed a high fat diet, male mice exhibit improved insulin sensitivity compared with similarly treated wild-type mice

• when fed a high fat diet and treated with palmitate, mice exhibit a blunted insulin resistance compared with similarly treated wild-type mice

adipose tissue

decreased total body fat amount ( J:153664 )

• when fed a high fat diet, female mice exhibit a 24% in total fat mass compared with similarly treated wild-type mice

decreased fat cell size ( J:153664 )

• when fed a high fat diet compared with similarly treated wild-type mice

decreased epididymal fat pad weight ( J:153664 )

• slightly in male mice fed a high fat diet compared with similarly treated wild-type mice

abnormal parametrial fat pad morphology ( J:153664 )

• when fed a high fat diet, female mice exhibit a 60% reduction in parametiral fat mass compared with similarly treated wild-type mice

behavior/neurological

decreased food intake ( J:153664 )

• at 12 weeks, male mice fed a high fat diet exhibit reduced food intake compared with similarly treated wild-type mice

• female mice fed a high fat diet and treated with leptin exhibit decreased food intake unlike similarly treated wild-type mice

• male mice fed a high fat diet and treated with leptin exhibit a greater decrease in eating compared with similarly treated wild-type mice

decreased locomotor activity ( J:153664 )

• male mice fed a high fat diet exhibit decreased activity during the nighttime compared with similarly treated wild-type mice

growth/size/body

decreased body length ( J:153664 )

• when fed a high fat diet, mice fail to exhibit an increase in length unlike similarly treated wild-type mice

decreased susceptibility to diet-induced obesity ( J:153664 )

• when fed a high fat diet, mice exhibit reduced weight gain and female mice exhibit no weight gain unlike similarly treated wild-type mice

Genotype
MGI:5546601

cn8

• Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Prmt5^{tm2c(EUCOMM)Wtsi} Tg(Nes-cre)1Kln
• Cell Lines: EPD0160_2_A08

mortality/aging

postnatal lethality, complete penetrance ( J:201152 )

• all die by P14

nervous system

increased neuron apoptosis ( J:201152 )

• apoptotic cells are detected at E15.5 in the ventricular/subventricular zone and ganglionic eminence

abnormal neuronal precursor proliferation ( J:201152 )

• decrease in the number of proliferating neuronal precursor cells at P0

• decrease in the number of primary neurospheres and the number of cells in the neurospheres produced by cultured neuronal precursor cells from E14.5 mice

• self renewal potential of neuronal precursor cells is impaired

abnormal cortical plate morphology ( J:201152 )

• reduced cellularity at P0

decreased cortical ventricular zone cell density ( J:201152 )

• reduced cellularity at P0

abnormal cerebellum external granule cell layer morphology ( J:201152 )

• absent at P10

decreased brain size ( J:201152 )

decreased brain weight ( J:201152 )

• detectable at E17.5

abnormal lateral ventricle morphology ( J:201152 )

• enlarged and disrupted at P10

enlarged lateral ventricles ( J:201152 )

thin cerebral cortex ( J:201152 )

abnormal embryonic/fetal subventricular zone morphology ( J:201152 )

• reduced cellularity at P0

behavior/neurological

tremors ( J:201152 )

impaired balance ( J:201152 )

• balance disorders

akinesia ( J:201152 )

cellular

increased neuron apoptosis ( J:201152 )

• apoptotic cells are detected at E15.5 in the ventricular/subventricular zone and ganglionic eminence

abnormal neuronal precursor proliferation ( J:201152 )

• decrease in the number of proliferating neuronal precursor cells at P0

• decrease in the number of primary neurospheres and the number of cells in the neurospheres produced by cultured neuronal precursor cells from E14.5 mice

• self renewal potential of neuronal precursor cells is impaired

Genotype
MGI:5576464

cn9

• Allelic Composition: Slc1a2^tm1.1Ncd/Slc1a2^tm1.1Ncd; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Slc1a2^tm1.1Ncd Tg(Nes-cre)1Kln

mortality/aging

decreased survivor rate ( J:207177 )

• 50% survival after 8 weeks

premature death ( J:207177 )

• higher mortality rate after 3 weeks, with only 50% survival after 8 weeks

growth/size/body

slow postnatal weight gain ( J:207177 )

behavior/neurological

hyperactivity ( J:207177 )

• mice become hyperactive after about 2 weeks

seizures ( J:207177 )

• spontaneous seizures are seen after about 2 weeks

nervous system

seizures ( J:207177 )

• spontaneous seizures are seen after about 2 weeks

Genotype
MGI:5306259

cn10

• Allelic Composition: Slc6a12^tm1.1Ncd/Slc6a12^tm1.1Ncd; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Slc6a12^tm1.1Ncd Tg(Nes-cre)1Kln

behavior/neurological

behavior/neurological phenotype ( J:180428 )

N • mice exhibit normal seizure threshold (corneal kindling, the minimal clonic and minimal tonic extension seizure threshold tests, the 6 Hz seizure threshold test, and the i.v. pentylenetetrazol threshold test)

Genotype
MGI:5451025

cn11

• Allelic Composition: Ndufs4^tm1Rpa/Ndufs4^tm1Rpa; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Tg(Nes-cre)1Kln Ndufs4^tm1Rpa

mortality/aging

premature death ( J:190475 )

• more than 90% mortality by P50

growth/size/body

decreased body size ( J:190475 )

postnatal growth retardation ( J:190475 )

• mutants show growth retardation and fail to thrive

respiratory system

abnormal breathing pattern ( J:190475 )

• intermittent breathing irregularities, including hypo- or hyperventilation and gasping

decreased pulmonary respiratory rate ( J:190475 )

• breathing rate is variable and lower in restrained mutants than in controls

apnea ( J:190475 )

• mutants exhibit intermittent episodes of apnea and periods during which respiratory frequency is very irregular; number of apnea episodes increases with age

respiratory distress ( J:190475 )

• gasping-like episodes that occur more commonly under stressful conditions, such as when being handled

abnormal pulmonary ventilation ( J:190475 )

• under normoxic conditions, mice at P8-P12 and those older than P30 have normal respiratory frequency, however they have higher tidal volume and minute ventilation

• in response to hypoxia, mutants show an initial augmentation of breathing, followed by a depression

• some mutants exhibit an abnormal response to excess CO2 (hypercapnia), with 6 of 13 mice failing to show the hyperventilation response seen in control mice, while the rest show an exaggerated response

nervous system

abnormal medulla oblongata morphology ( J:190475 )

• edematous regions/lesions in the dorsal medulla (in the vestibular nucleus)

• extensive bilateral neuroinflammation in the vestibular nucleus

abnormal olfactory bulb external plexiform layer morphology ( J:190475 )

• edematous regions/lesions in the external plexiform layer of the olfactory bulb

abnormal cerebellum lobule morphology ( J:190475 )

• edematous regions/lesions in the cerebellar lobes

abnormal cerebellum fastigial nucleus morphology ( J:190475 )

• edematous regions/lesions in the deep cerebellar fastigial nucleus

brain vacuoles ( J:190475 )

• neurons with cytoplasmic vacuoles are seen in the brain

gliosis ( J:190475 )

• progressive gliosis in the brain

microgliosis ( J:190475 )

• microglial activation is rarely seen in respiratory centers such as the medial parabrachial nucleus, nucleus of the solitary tract or preBotzinger complex, however it is seen in late-stage mutants around serotonergic cell bodies in the medullary raphe

neurodegeneration ( J:190475 )

• mutants develop a fatal progressive encephalopathy

• neurons with cytoplasmic vacuoles and aberrant mitochondria containing condensed cristae and microglia engorged with cytoplasmic remnants in the brain

abnormal pre-Botzinger complex physiology ( J:190475 )

• mutants exhibit abnormal responses of the Botzinger complex in the ventral medulla under hypoxic conditions; the initial augmentation phase is normal but during depression, the amplitude of fictive gasping is decreased

• intracellular recordings of preBotzinger complex inspiratory neurons show that under control conditions, the depolarization in phase with the network burst is reduced in mutants and the number and frequency of action potentials per burst and firing frequency is lower

• upon transition from control to hypoxic conditions, mutants have a severe reduction of the underlying depolarization when challenged by hypoxia, the number and frequency of action potentials per burst drops dramatically compared to a mild reduction in controls

behavior/neurological

lethargy ( J:190475 )

ataxia ( J:190475 )

cardiovascular system

decreased heart rate ( J:190475 )

• lower heart rate, especially in late stages of disease

homeostasis/metabolism

abnormal blood homeostasis ( J:190475 )

• percentage of oxygen saturation of arterial blood in late-stage mutants is often less than 99% which is not seen in controls

decreased body temperature ( J:190475 )

immune system

microgliosis ( J:190475 )

• microglial activation is rarely seen in respiratory centers such as the medial parabrachial nucleus, nucleus of the solitary tract or preBotzinger complex, however it is seen in late-stage mutants around serotonergic cell bodies in the medullary raphe

integument

alopecia ( J:190475 )

• mutants lose most of their hair at around P20

muscle

hypotonia ( J:190475 )

hematopoietic system

microgliosis ( J:190475 )

• microglial activation is rarely seen in respiratory centers such as the medial parabrachial nucleus, nucleus of the solitary tract or preBotzinger complex, however it is seen in late-stage mutants around serotonergic cell bodies in the medullary raphe

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leigh disease		DOID:3652	OMIM:256000	J:190475

Genotype
MGI:3044595

cn12

• Allelic Composition: Tg(Nes-cre)1Kln/0; Tg(ACTB-NOTCH1)1Shn/0
• Genetic Background: B6.Cg-Tg(Nes-cre)1Kln Tg(ACTB-NOTCH1)1Shn

mortality/aging

perinatal lethality, complete penetrance ( J:90392 )

prenatal lethality, incomplete penetrance ( J:90392 )

• some of the mutants die before birth; however, most survive to the perinatal stage

nervous system

abnormal neuron apoptosis ( J:90392 )

• at E10 the number of apoptotic cells in the forebrain-midbrain junction is increased

• by E11.5 apoptosis is more widespread in the telencephalon with about 30% of all cells being TUNEL positive

decreased cortical ventricular zone thickness ( J:90392 )

• at E12 - 13.5 the ventricular zone harboring neural progenitors is thinner

small embryonic telencephalon ( J:90392 )

• at E12 - 13.5 the telencephalon is smaller compared to wild-type or single transgenic littermates

decreased brain size ( J:90392 )

• at E12 - 13.5 all brain subregions are smaller compared to wild-type or single transgenic littermates

• at P0 the brain especially the cerebral cortex is much smaller in double transgenic mice compared to wild-type or single transgenic littermates

decreased neuron number ( J:90392 )

• the number of postmitotic neurons is decreased at E12 - 13.5 in the telencephalon and diencephalon

cellular

abnormal neuron apoptosis ( J:90392 )

• at E10 the number of apoptotic cells in the forebrain-midbrain junction is increased

• by E11.5 apoptosis is more widespread in the telencephalon with about 30% of all cells being TUNEL positive

Genotype
MGI:5511126

cn13

• Allelic Composition: Uba6^tm1Whpr/Uba6^tm1Whpr; Tg(Nes-cre)1Kln/0
• Genetic Background: B6.Cg-Uba6^tm1Whpr Tg(Nes-cre)1Kln

mortality/aging

premature death ( J:198126 )

• a quarter of mice that survive to P21 die within 2 months

• however, lethality is partially rescued by making food more accessible

postnatal lethality, incomplete penetrance ( J:198126 )

• half of mice die between P5 and P21

behavior/neurological

impaired contextual conditioning behavior ( J:198126 )

• with altered response to an aversive stimulus

abnormal habituation to a new environment ( J:198126 )

• lack of habituation

abnormal spatial working memory ( J:198126 )

• in the Y-maze test

aphagia ( J:198126 )

• absence of stomach content in several mice at death

abnormal depression-related behavior ( J:198126 )

• in a forced swim test, mice spend less time immobilized compared with wild-type mice

increased thigmotaxis ( J:198126 )

abnormal pilomotor reflex ( J:198126 )

• constitutive without an alteration in body temperature

increased startle reflex ( J:198126 )

enhanced coordination ( J:198126 )

• slightly better performance on a rotarod

decreased grip strength ( J:198126 )

hyperactivity ( J:198126 )

• in a novel environment with a lack of habituation

• pronounced in the dark phase

abnormal nest building behavior ( J:198126 )

• aversion to nesting

abnormal social investigation ( J:198126 )

• mice prefer to explore an empty chamber rather than a stranger mouse

nervous system

nervous system phenotype ( J:198126 )

N • neuronal apoptosis at E14.5 and P5 is normal

decreased brain size ( J:198126 )

abnormal amygdala morphology ( J:198126 )

abnormal hippocampus morphology ( J:198126 )

abnormal hippocampus CA3 region morphology ( J:198126 )

• scattered neurons

abnormal dendritic spine morphology ( J:198126 )

• reduced density in the CA3 region and amygdala

decreased neuron number ( J:198126 )

• in the CA3 region as early as P5, the basolateral amygdala and piriform cortex

• however, the number of neurons is normal in the CA1, dentate gyrus, cortex and cerebellar regions

decreased prepulse inhibition ( J:198126 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:198126 )

N • mice exhibit normal body temperature and constant respiratory exchange ratio throughout the diurnal cycle

increased energy expenditure ( J:198126 )

increased carbon dioxide production ( J:198126 )

increased oxygen consumption ( J:198126 )

abnormal metabolism ( J:198126 )

• hypermetabolic

growth/size/body

decreased birth weight ( J:198126 )

decreased body weight ( J:198126 )

decreased body length ( J:198126 )

• at birth and 11 weeks

Genotype
MGI:5897176

cn14

• Allelic Composition: Tg(CAG-Ppard*E411P)#Als/0; Tg(Nes-cre)1Kln/0
• Genetic Background: B6J.Cg-Tg(Nes-cre)1Kln Tg(CAG-Ppard*E411P)#Als

growth/size/body

decreased body weight ( J:233176 )

• mice appear smaller by 4-6 months of age and weigh less than controls by 8 months of age

behavior/neurological

decreased exploration in new environment ( J:233176 )

• mice exhibit reduced novel-environment exploration

abnormal response to novel object ( J:233176 )

• mice exhibit reduced novel-object recognition

abnormal motor capabilities/coordination/movement ( J:233176 )

• mice exhibit prominent motor abnormalities by 8 months of age

• in the cage-ledge test, mice cannot easily dismount from the cage ledge

limb grasping ( J:233176 )

• mice exhibit a prominent clasping phenotype

impaired coordination ( J:233176 )

• mice exhibit worse latency-to-fall times on the accelerating rotarod

decreased grip strength ( J:233176 )

• reduction in combined mesh and grip-strength

short stride length ( J:233176 )

• decrease in mean stride-length

cellular

decreased mitochondrial size ( J:233176 )

• mitochondria in the striatum and cortex are smaller in size

abnormal mitochondrial ATP synthesis coupled electron transport ( J:233176 )

• activities of mitochondrial complex IV and complex V are reduced in the striatum and overall ATP concentration is reduced in the striatum and cortex

nervous system

decreased brain size ( J:233176 )

• brain size of adults is reduced

abnormal basal ganglion morphology ( J:233176 )

• reduction in the volume of the basal ganglia

abnormal cerebral cortex morphology ( J:233176 )

• reduction in the volume of the cortex

gliosis ( J:233176 )

• reactive gliosis in the brain

decreased neuron number ( J:233176 )

• brain shows reduction in neuron numbers

decreased dopaminergic neuron number ( J:233176 )

• reduction in tyrosine hydroxylase-positive dopaminergic neurons in the substantia nigra

neurodegeneration ( J:233176 )

skeleton

kyphosis ( J:233176 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:233176

Genotype
MGI:3629065

cn15

• Allelic Composition: Abcb7^tm1Mdf/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: either: B6.Cg-Tg(Nes-cre)1Kln Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * SJL)

mortality/aging

postnatal lethality, complete penetrance ( J:106838 )

♂ • none are found at weaning

neonatal lethality, incomplete penetrance ( J:106838 )

♂ • only 4.3% of pups rather than the expected 12.5% are found at P1

nervous system

nervous system phenotype ( J:106838 )

♂N • no gross brain abnormalities are detected

Genotype
MGI:5817608

cn16

• Allelic Composition: Rai1^tm2.2Luo/Rai1⁺; Tg(Nes-cre)1Kln/?
• Genetic Background: either: (involves: 129S1/Sv * C57BL/6 * SJL) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)

behavior/neurological

impaired coordination ( J:237687 )

♂ • males exhibit a decreased latency to fall in wire hang test

Genotype
MGI:5817471

cn17

• Allelic Composition: Rai1^tm2.1Luo/Rai1^tm2.1Luo; Tg(Nes-cre)1Kln/?
• Genetic Background: either: (involves: 129S1/Sv * C57BL/6 * SJL) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)

behavior/neurological

behavior/neurological phenotype ( J:237687 )

♂N • males perform similar to controls in assays for gait, velocity, vertical activity, anxiety, sociability and cognition

♂N • males have normal hearing and pain responses

abnormal associative learning ( J:237687 )

♂ • decreased freezing behavior after repeated tone-shock pairings during training

impaired contextual conditioning behavior ( J:237687 )

♂ • decreased freezing behavior in contextual recall in trace fear-conditioning task

impaired cued conditioning behavior ( J:237687 )

♂ • decreased freezing behavior in cued recall

abnormal spatial working memory ( J:237687 )

♂ • reduced tendency to explore new arm in Y maze

limb grasping ( J:237687 )

• hindlimb clasping

impaired coordination ( J:237687 )

♂ • in pole test males slip from pole or climb down in a slow and uncoordinated fashion

♂ • decreased latency to fall in wire hang test

growth/size/body

obese ( J:237687 )

♀ • female mice become overweight beginning at 5 weeks of age

♀ • at 20 weeks female mice are 101% heavier than controls

decreased body size ( J:237687 )

• mice are smaller than littermates prior to weaning

mortality/aging

premature death ( J:237687 )

• more than 80% of mice die before 25 weeks of age

skeleton

kyphosis ( J:237687 )

• kyphosis in 10% of mice that die before 10 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Smith-Magenis syndrome		DOID:0060768	OMIM:182290	J:237687

Genotype
MGI:5817614

cn18

• Allelic Composition: Rai1^tm2.2Luo/Rai1^tm2.1Luo; Tg(Nes-cre)1Kln/?
• Genetic Background: either: (involves: 129S1/Sv * C57BL/6 * SJL) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)

growth/size/body

obese ( J:237687 )

♀ • female mice become overweight beginning at 7 weeks of age

Genotype
MGI:5817609

cn19

• Allelic Composition: Rai1^tm2.1Luo/Rai1⁺; Tg(Nes-cre)1Kln/?
• Genetic Background: either: (involves: 129S1/Sv * C57BL/6 * SJL) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL)

behavior/neurological

impaired coordination ( J:237687 )

♂ • males exhibit a decreased latency to fall in wire hang test

growth/size/body

obese ( J:237687 )

♀ • female mice become overweight beginning at 7 weeks of age

♀ • at 20 weeks female mice are 35% heavier than controls

Genotype
MGI:4398746

cn20

• Allelic Composition: Sox2^tm2Skn/Sox2^tm4.1Skn; Tg(Nes-cre)1Kln/0
• Genetic Background: either: (involves: 129S/Sv * C57BL/6 * SJL) or (involves: 129S/Sv * C57BL/6 * DBA/2 * SJL)

mortality/aging

premature death ( J:154650 )

• most mice die by 4 weeks of age

nervous system

abnormal neuron differentiation ( J:154650 )

• brain cultures of P0 neurospheres in EGF exhibit reduced neural stem cells by the second and fourth passage compared to wild-type cultures that continue to proliferate

• neurospheres from P0 brain cultures in EGF die out by the fifth or sixth passage unlike wild-type cultures that continue to proliferate

• P0 brain cultures in EGF and bFGF adhere to the plate at early passages before becoming exhausted unlike similarly treated wild-type cultures that continue to proliferate

• defects in neural stem cell maintenance are accompanied by a strong decrease in neurosphere size

• P7 brain cultures are exhausted between the first and fourth passage unlike wild-type cultures that continue to proliferate

• brain cultures from E14.5 mice are more viable than later cultures but exhibit reduced proliferation compared with wild-type cultures

• however, treatment of P0 cultures with media from wild-type cultures restores proliferation

abnormal hippocampus development ( J:154650 )

• from P0 hippocampal development is reduced compared to in wild-type mice

enlarged lateral ventricles ( J:154650 )

• moderately at P0

abnormal corpus callosum morphology ( J:154650 )

• prematurely interrupted at P0

abnormal dentate gyrus morphology ( J:154650 )

• at P0, the number of GFAP/nestin+ cells in the dentate gyrus sub-granular layer is slightly decreased compared to in wild-type mice

• at P2, the number of GFAP/nestin+ cells in the dentate gyrus is strongly reduced compared to in wild-type mice

• the reduction in dentate gyrus cells is attributed to decreased proliferation and transient increase in apoptosis compared to in wild-type mice

absent dentate gyrus ( J:154650 )

• almost completely by P7

loss of hippocampal neurons ( J:154650 )

• the reduction in dentate gyrus cells is attributed to decreased proliferation and transient increase in apoptosis compared to in wild-type mice

small hippocampus ( J:154650 )

• slightly at P0 and markedly at P7

abnormal cerebral cortex morphology ( J:154650 )

• at P0, the posterior ventrolateral cortex is slightly reduced in size compared to in wild-type mice

cellular

abnormal neuron differentiation ( J:154650 )

• brain cultures of P0 neurospheres in EGF exhibit reduced neural stem cells by the second and fourth passage compared to wild-type cultures that continue to proliferate

• neurospheres from P0 brain cultures in EGF die out by the fifth or sixth passage unlike wild-type cultures that continue to proliferate

• P0 brain cultures in EGF and bFGF adhere to the plate at early passages before becoming exhausted unlike similarly treated wild-type cultures that continue to proliferate

• defects in neural stem cell maintenance are accompanied by a strong decrease in neurosphere size

• P7 brain cultures are exhausted between the first and fourth passage unlike wild-type cultures that continue to proliferate

• brain cultures from E14.5 mice are more viable than later cultures but exhibit reduced proliferation compared with wild-type cultures

• however, treatment of P0 cultures with media from wild-type cultures restores proliferation

Genotype
MGI:4840275

cn21

• Allelic Composition: Stat5a^tm2Mam/Stat5a^tm2Mam; Stat5b^tm1Mam/Stat5b^tm1Mam; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * 129S6/SvEvTac * C57BL/6 * SJL

growth/size/body

increased lean body mass ( J:132806 )

• increase 40% and 20% in male and female mice, respectively at 22 weeks of age

obese ( J:132806 )

• gain more weight than control littermates starting from 8 weeks of age

• more profound after 16 weeks of age

• weigh on the average 65% (males) and 60% (females) more at 26 weeks of age

behavior/neurological

polyphagia ( J:132806 )

• increased food intake in male at 16 weeks of age

• increased food intake in both male and female at 26 weeks of age

homeostasis/metabolism

impaired adaptive thermogenesis ( J:132806 )

• reduced cold tolerance at 26 weeks of age

increased circulating insulin level ( J:132806 )

• 8-fold at 22 weeks of age

increased circulating leptin level ( J:132806 )

• 4.5-fold at 22 weeks of age

increased circulating free fatty acids level ( J:132806 )

• at 22 weeks of age

increased circulating triglyceride level ( J:132806 )

• at 22 weeks of age

decreased oxygen consumption ( J:132806 )

• reduced oxygen consumption normalized to lean mass in male mice at 26 weeks of age

impaired glucose tolerance ( J:132806 )

• at 22 weeks of age

insulin resistance ( J:132806 )

• at 22 weeks of age

adipose tissue

increased total body fat amount ( J:132806 )

• increase 2.5- and 3.5-fold in male and female mice, respectively at 22 weeks of age

• increase in both subcutaneous and visceral fat mass

abnormal fat pad morphology ( J:132806 )

• larger mean cross-sectional areas of adipocytes in inguinal, parametrial and mesenteric fat pads

increased total fat pad weight ( J:132806 )

• at least 2 fold increase in weight of all 5 fat pads (inguinal, parametrial, retroperitoneal, mesenteric and perirenal)

increased percent body fat/body weight ( J:132806 )

• 150% and 200% in male and female mice, respectively of that measured in control mice at 22 weeks of age

Genotype
MGI:4840276

cn22

• Allelic Composition: Stat5b^tm1Mam/Stat5b^tm1Mam; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * 129S6/SvEvTac * C57BL/6 * SJL

growth/size/body

increased lean body mass ( J:132806 )

• increase 40% and 20% in male and female mice, respectively at 22 weeks of age

obese ( J:132806 )

• gain more weight than control littermates starting from 8 weeks of age

• more profound after 16 weeks of age

• weigh on the average 65% (males) and 60% (females) more at 26 weeks of age

behavior/neurological

polyphagia ( J:132806 )

• increased food intake in male at 16 weeks of age

• increased food intake in both male and female at 26 weeks of age

homeostasis/metabolism

impaired adaptive thermogenesis ( J:132806 )

• reduced cold tolerance at 26 weeks of age

increased circulating insulin level ( J:132806 )

• 8-fold at 22 weeks of age

increased circulating leptin level ( J:132806 )

• 4.5-fold at 22 weeks of age

increased circulating free fatty acids level ( J:132806 )

• at 22 weeks of age

increased circulating triglyceride level ( J:132806 )

• at 22 weeks of age

decreased oxygen consumption ( J:132806 )

• reduced oxygen consumption normalized to lean mass in male mice at 26 weeks of age

impaired glucose tolerance ( J:132806 )

• at 22 weeks of age

insulin resistance ( J:132806 )

• at 22 weeks of age

adipose tissue

increased total body fat amount ( J:132806 )

• increase 2.5- and 3.5-fold in male and female mice, respectively at 22 weeks of age

• increase in both subcutaneous and visceral fat mass

abnormal fat pad morphology ( J:132806 )

• larger mean cross-sectional areas of adipocytes in inguinal, parametrial and mesenteric fat pads

increased total fat pad weight ( J:132806 )

• at least 2 fold increase in weight of all 5 fat pads (inguinal, parametrial, retroperitoneal, mesenteric and perirenal)

increased percent body fat/body weight ( J:132806 )

• 150% and 200% in male and female mice, respectively of that measured in control mice at 22 weeks of age

Genotype
MGI:4943294

cn23

• Allelic Composition: Cfl1^tm1.1Wit/Cfl1⁺; Dstn^tm1.1Wit/Dstn^tm1.1Wit; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * BALB/cJ * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:125317 )

• mice are viable and phenotypically normal

Genotype
MGI:3051638

cn24

• Allelic Composition: Socs3^tm1Ayos/Socs3^tm1Ayos; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6

adipose tissue

decreased body fat mass ( J:91796 )

• on a high fat diet total fat weight and individual fat pad weights increase less in mutants compared to wild-type mice

behavior/neurological

abnormal food intake ( J:91796 )

• food intake is decreased on a high fat diet compared to wild-type mice on the same diet

growth/size/body

decreased body fat mass ( J:91796 )

• on a high fat diet total fat weight and individual fat pad weights increase less in mutants compared to wild-type mice

decreased body weight ( J:91796 )

• on a high fat diet mutants gain less weight

homeostasis/metabolism

decreased circulating free fatty acids level ( J:91796 )

• after 22 weeks on a high fat diet plasma free fatty acid levels are significantly lower in mutants

decreased circulating triglyceride level ( J:91796 )

• after 22 weeks on a high fat diet triglyceride levels are significantly lower in mutants

improved glucose tolerance ( J:91796 )

• glucose clearance is significantly faster in mutants compared to wild-type mice

increased insulin sensitivity ( J:91796 )

• on a high fat diet mutants do not develop insulin resistance

increased response to leptin ( J:91796 )

• leptin treatment induces a greater decrease in food intake in mutants compared to wild-type mice

• treatment with leptin induces greater weight loss in mutants

Genotype
MGI:5825029

cn25

• Allelic Composition: Slc6a8^tm1.1Lbar/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * C57BL/6N * SJL

behavior/neurological

abnormal object recognition memory ( J:238578 )

♂ • mice show impaired performance in the object recognition test, indicating impaired declarative memory, showing both a defect in short-term (1-hour) and long-term (24-hour) memory at P180

impaired long-term object recognition memory ( J:238578 )

♂ • mice show a defect in long-term (24-hour) memory at P180

impaired short-term object recognition memory ( J:238578 )

♂ • mice show a defect in short-term (1-hour) memory at P180

abnormal spatial working memory ( J:238578 )

♂ • mice show bout a 10% lower alternation rate in the Y maze, indicating impaired working memory

cellular

abnormal neuron proliferation ( J:238578 )

♂ • the number of Ki67-positive cells in the dentate gyrus is decreased at P180, indicating reduced neurogenesis

homeostasis/metabolism

decreased creatine level ( J:238578 )

♂ • creatine levels in the brain are decreased

nervous system

abnormal neuron proliferation ( J:238578 )

♂ • the number of Ki67-positive cells in the dentate gyrus is decreased at P180, indicating reduced neurogenesis

abnormal dentate gyrus morphology ( J:238578 )

♂ • the number of Ki67-positive cells in the dentate gyrus is decreased at P180, indicating reduced neurogenesis

Genotype
MGI:7595582

cn26

• Allelic Composition: Efr3b^tm1Gpt/Efr3b^tm1Gpt; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * SJL

behavior/neurological

behavior/neurological phenotype ( J:344437 )

N • locomotion and spatial and fear memory are similar to controls

N • olfactory habituation/dishabituation is similar to controls

abnormal response to social novelty ( J:344437 )

• fail to show a preference for a novel stranger mouse over a stranger mouse encountered in the past at 8 weeks of age but not at 12 weeks of age

• however, response to a novel object s similar to controls and preference for a stranger mouse compared to an empty chamber is similar to controls

nervous system

nervous system phenotype ( J:344437 )

N • brain size is similar to controls

abnormal nervous system electrophysiology ( J:344437 )

• in hippocampal slices from 8 week old but not 12 week old mice, resting membrane potential, input resistance, and initial frequency are significantly decreased

• rheobase (minimal currant amplitude to elicit spike discharge) is increased in dorsal CA2 pyramidal neurons

• however, resting membrane potential, input resistance, and rheobase in the dCA3 pyramidal neurons are similar to controls

impaired ability to fire action potentials ( J:344437 )

• decreased number of action potentials in response to depolarizing current injections in CA2 pyramidal neurons

Genotype
MGI:4850044

cn27

• Allelic Composition: Abl1^tm2.1Goff/Abl1^tm2.1Goff; Abl2^tm1Ajk/Abl2^tm1Ajk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:166211 )

• recovered at a frequency (20.5%) slightly less than the expected Mendelian ratio at two weeks of age

nervous system

decreased cerebellar granule cell precursor proliferation ( J:166211 )

• reduced number of proliferating granule cell precursors (GCPs) in the secondary fissure in the posterior cerebellum at P8

• loss of proliferating GCPs is concentrated in areas where the basement membrane (BM) is disrupted

• normal proliferation of GCPs in the cerebella-derived culture

abnormal brain morphology ( J:166211 )

• scores of granule cell precursors (GCPs) abnormally protrude into the subarachnoid space between the midbrain and cerebellum at E17

• laminin-labeled basement membrane (BM) is fragmented at E15 and E17

• loss of the pial BM in the cerebellum starting from around P8

abnormal cerebellum morphology ( J:166211 )

• reduced anterior-posterior extent of the mutant adult cerebellum

• basic laminar structure of the anterior cerebellum, encompassing lobules I-V, is completely lost

abnormal cerebellar lobule formation ( J:166211 )

• obvious defects in the organization of anterior lobules I-V in P7 and P1 cerebella

reduced cerebellar foliation ( J:166211 )

• adjacent lobules, such as lobules VIII and IX, are fused

abnormal cerebellum white matter morphology ( J:166211 )

• patches of granule cells are randomly scattered throughout the white matter

abnormal cerebellar layer morphology ( J:166211 )

ectopic Bergmann glia cells ( J:166211 )

• abnormal Bergmann glial network correlates with breaches of the BM in the cerebellum at P8

• highly disorganized radial glial processes, with some of their endfeet protruding into the meninges in the mutant cerebellum at E15

ectopic Purkinje cell ( J:166211 )

• loosely aligned Purkinje cells, with some abnormally distributing at the cerebellar surface at P1

ectopic cerebellar granule cells ( J:166211 )

• GCPs ectopically embed within the cortex at P1

• ectopic granule cell differentiation near the broken BM at P8

• many granule cells ectopias at the cerebellar surface in the posterior regions of adult cerebella and along the fusion lines of adjacent lobules

• normal extent of migration of granule cells and granule cell-glia interactions at P10 before the loss of the BM

abnormal cerebellum fissure morphology ( J:166211 )

• decreased depth of the fissures

absent cerebellum fissure ( J:166211 )

• both the cerebellar vermis and the two lateral hemispheres lack clear fissures on the surface

absent cerebellar lobules ( J:166211 )

• disappearance of lobules IV and V in the anterior vermis

small cerebellum ( J:166211 )

• smaller cerebellum in adult mice

behavior/neurological

impaired coordination ( J:166211 )

• take approximately twice as long to cross the elevated balance beam

• dramatic increase in the number of foot slips

cellular

decreased cerebellar granule cell precursor proliferation ( J:166211 )

• reduced number of proliferating granule cell precursors (GCPs) in the secondary fissure in the posterior cerebellum at P8

• loss of proliferating GCPs is concentrated in areas where the basement membrane (BM) is disrupted

• normal proliferation of GCPs in the cerebella-derived culture

Genotype
MGI:4415816

cn28

• Allelic Composition: Tnfrsf11a^tm1.1Pngr/Tnfrsf11a^tm1.2Pngr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6NTac * SJL

homeostasis/metabolism

abnormal body temperature homeostasis ( J:155398 )

• ovariectomized mice fail to exhibit a change in body temperature unlike similarly treated wild-type mice

abnormal circadian temperature homeostasis ( J:155398 )

• in female mice during the light phase

impaired febrile response ( J:155398 )

• mice injected with RANKL (Tnfsf11) or LPS fail to develop severe hyperthermia unlike similarly treated wild-type mice

decreased prostaglandin level ( J:155398 )

• mice injected with RANKL (Tnfsf11) fail to exhibit an increase in prostagladin levels unlike similarly treated wild-type mice

abnormal response/metabolism to endogenous compounds ( J:155398 )

• mice injected with RANKL (Tnfsf11) fail to develop severe hyperthermia and do not exhibit a change in diurnal activity unlike similarly treated wild-type mice

• mice injected with Il1b or TNF exhibit an impaired fever response and alterations in circadian activity compared with similarly treated wild-type mice

• mice injected with RANKL (Tnfsf11) fail to exhibit an increase in prostagladin levels unlike similarly treated wild-type mice

immune system

decreased susceptibility to endotoxin shock ( J:155398 )

• mice injected with LPS fail to develop severe hyperthermia and do not exhibit a change in diurnal activity unlike similarly treated wild-type mice

Genotype
MGI:5523421

cn29

• Allelic Composition: Gnl3^tm2.1Rylt/Gnl3^tm2.1Rylt; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * CBA

Severe brain defects in Gnl3^tm2.1Rylt/Gnl3^tm2.1Rylt Tg(Nes-cre)1Kln/0 embryos

mortality/aging

neonatal lethality, complete penetrance ( J:198698 )

respiratory system

respiratory failure ( J:198698 )

nervous system

abnormal embryonic neuroepithelium morphology ( J:198698 )

• decrease in cellularity starting at E12.5

• increase in gamma-H2AFX protein in cells expressing this protein at E12.5

abnormal brain morphology ( J:198698 )

abnormal cerebellum development ( J:198698 )

• major defects in the cerebellar primordium at E14.5 and E16.5

abnormal tectum morphology ( J:198698 )

• major defects at E14.5 and E16.5

decreased tegmentum size ( J:198698 )

• smaller midbrain and hindbrain tegmentum at E14.5 and E16.5

abnormal diencephalon morphology ( J:198698 )

• smaller at E14.5 and E16.5

abnormal telencephalon morphology ( J:198698 )

• major defects in the cortex at E14.5 and E16.5

abnormal embryonic/fetal subventricular zone morphology ( J:198698 )

• major defects in the ganglionic eminence at E14.5 and E16.5

abnormal neuronal stem cell morphology ( J:198698 )

• decrease in neuronal stem cell numbers in the neuroepithelium at E12.5

decreased spinal cord size ( J:198698 )

• at E14.5 and E16.5

embryo

abnormal embryonic neuroepithelium morphology ( J:198698 )

• decrease in cellularity starting at E12.5

• increase in gamma-H2AFX protein in cells expressing this protein at E12.5

Genotype
MGI:4437796

cn30

• Allelic Composition: Ahi1^tm1Jgg/Ahi1^tm2.1Jgg; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

mortality/aging

mortality/aging ( J:158019 )

N • mice exhibit normal mortality through weaning

vision/eye

abnormal rod electrophysiology ( J:158019 )

• at P19, dark-adapted electrical activity is absent unlike in wild-type mice

nervous system

nervous system phenotype ( J:158019 )

N • brain morphology is normal

Genotype
MGI:6358565

cn31

• Allelic Composition: Efr3a^tm1Bgsn/Efr3a^tm1Bgsn; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6J * SJL

nervous system

nervous system phenotype ( J:273433 )

N • adult-born neurons exhibit normal dendritic length, branch numbers and spine density

N • mice exhibit normal hippocampal neural stem cell/neural progenitor cell proliferation and differentiation

decreased neuron apoptosis ( J:273433 )

• in the dentate gyrus of the hippocampus

• however, autophagy is normal

premature neuronal precursor differentiation ( J:273433 )

• increased adult hippocampal neurogenesis in dentate gyrus of 10 week old mice due to differentiation of progenitor cells

cellular

decreased neuron apoptosis ( J:273433 )

• in the dentate gyrus of the hippocampus

• however, autophagy is normal

premature neuronal precursor differentiation ( J:273433 )

• increased adult hippocampal neurogenesis in dentate gyrus of 10 week old mice due to differentiation of progenitor cells

Genotype
MGI:3831343

cn32

• Allelic Composition: Brca2^tm1Brn/Brca2^tm1Brn; Ptch1^tm1Mps/Ptch1⁺; Trp53^tm1Tyj/Trp53^tm1Tyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

neoplasm

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 5 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 5 weeks

Genotype
MGI:5512711

cn33

• Allelic Composition: Braf^tm2Urr/Braf^tm2Urr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

Cerebellar abnormalities in Braf^tm2Urr/Braf^tm2Urr Tg(Nes-cre)1Kln/0 and Braf^tm2.1Urr/Braf^tm2.1Urr Tg(Nes-cre)1Kln/0 mice

mortality/aging

premature death ( J:199842 )

• no mice survive beyond P28

postnatal lethality, incomplete penetrance ( J:199842 )

• mice begin to die around P17

nervous system

impaired neuron differentiation ( J:199842 )

• in the dentate granule cell layer

• however, no increase in astrocytic differentiation is observed in the dentate gyrus

abnormal neuronal precursor proliferation ( J:199842 )

• expansion of the pool of proliferating hippocampal progenitor cells in the third postnatal week

decreased brain weight ( J:199842 )

• at P10 and P20

abnormal hippocampus granule cell layer ( J:199842 )

• reduced volume of the dentate granule cell layer

• reduced volume at P21 but not P12

abnormal cerebellum morphology ( J:199842 )

• cytoarchitectonic alterations affecting all lobes at P21

abnormal Purkinje cell morphology ( J:199842 )

• irregular positions in the flocculonodular lobe LX

• Purkinje cells appear elongated

abnormal Purkinje cell dendrite morphology ( J:199842 )

• reduced and irregular arborization in the cerebellar molecular layer with more than 2 times lengthening of primary dendrite length

decreased Purkinje cell number ( J:199842 )

• in the flocculonodular lobe LX

abnormal cerebellar molecular layer ( J:199842 )

• reduced and irregular arborization in the cerebellar molecular layer with more than 2 times lengthening of primary dendrite length

abnormal cerebellum vermis lobule morphology ( J:199842 )

• reduced glomeruli size indicating that the synapses of the granule cells with mossy fiber and Golgi cells do not form correctly

abnormal cerebellum vermis lobule I morphology ( J:199842 )

• reduced length with less well demarcated and fuzzy border

abnormal cerebellum vermis lobule II morphology ( J:199842 )

• reduced length with less well demarcated and fuzzy border

abnormal cerebellum vermis lobule III morphology ( J:199842 )

• reduced length

abnormal cerebellum vermis lobule V morphology ( J:199842 )

• reduced length

abnormal cerebellum vermis lobule VII morphology ( J:199842 )

• less well demarcated and fuzzy border

abnormal cerebellum vermis lobule X morphology ( J:199842 )

• ced length with less well demarcated and fuzzy border and disorganized glomeruli

cerebellum hypoplasia ( J:199842 )

• at P21

behavior/neurological

increased aggression ( J:199842 )

• autoaggression (biting of their toes) in 13 of 15 mice

impaired balance ( J:199842 )

• impaired ability to walk and balance on a rod

• however, mice walk normally otherwise

impaired coordination ( J:199842 )

• impaired ability to walk and balance on a rod

• however, mice walk normally otherwise

growth/size/body

decreased body size ( J:199842 )

• at P5

decreased body weight ( J:199842 )

cellular

impaired neuron differentiation ( J:199842 )

• in the dentate granule cell layer

• however, no increase in astrocytic differentiation is observed in the dentate gyrus

abnormal neuronal precursor proliferation ( J:199842 )

• expansion of the pool of proliferating hippocampal progenitor cells in the third postnatal week

Genotype
MGI:4353817

cn34

• Allelic Composition: Gt(ROSA)26Sor^{tm2(SNCA*119)Djmo}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:150777 )

Genotype
MGI:5512710

cn35

• Allelic Composition: Braf^tm2.1Urr/Braf^tm2.1Urr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

Cerebellar abnormalities in Braf^tm2Urr/Braf^tm2Urr Tg(Nes-cre)1Kln/0 and Braf^tm2.1Urr/Braf^tm2.1Urr Tg(Nes-cre)1Kln/0 mice

mortality/aging

premature death ( J:199842 )

• no mice survive beyond P28

postnatal lethality, incomplete penetrance ( J:199842 )

• mice begin to die around P17

nervous system

impaired neuron differentiation ( J:199842 )

• in the dentate granule cell layer

• however, no increase in astrocytic differentiation is observed in the dentate gyrus

increased neuronal precursor proliferation ( J:199842 )

• expansion of the pool of proliferating hippocampal progenitor cells in the third postnatal week

decreased brain weight ( J:199842 )

• at P10 and P20

abnormal hippocampus granule cell layer ( J:199842 )

• reduced volume of the dentate granule cell layer

• reduced volume at P21 but not P12

abnormal cerebellum morphology ( J:199842 )

• cytoarchitectonic alterations affecting all lobes at P21

abnormal Purkinje cell morphology ( J:199842 )

• irregular positions in the flocculonodular lobe LX

• Purkinje cells appear elongated

abnormal Purkinje cell dendrite morphology ( J:199842 )

• reduced and irregular arborization in the cerebellar molecular layer with more than 2 times lengthening of primary dendrite length

decreased Purkinje cell number ( J:199842 )

• in the flocculonodular lobe LX

abnormal cerebellar molecular layer ( J:199842 )

• reduced and irregular arborization in the cerebellar molecular layer with more than 2 times lengthening of primary dendrite length

abnormal cerebellum vermis lobule morphology ( J:199842 )

• reduced glomeruli size indicating that the synapses of the granule cells with mossy fiber and Golgi cells do not form correctly

abnormal cerebellum vermis lobule I morphology ( J:199842 )

• reduced length with less well demarcated and fuzzy border

abnormal cerebellum vermis lobule II morphology ( J:199842 )

• reduced length with less well demarcated and fuzzy border

abnormal cerebellum vermis lobule III morphology ( J:199842 )

• reduced length

abnormal cerebellum vermis lobule V morphology ( J:199842 )

• reduced length

abnormal cerebellum vermis lobule VII morphology ( J:199842 )

• less well demarcated and fuzzy border

abnormal cerebellum vermis lobule X morphology ( J:199842 )

• ced length with less well demarcated and fuzzy border and disorganized glomeruli

cerebellum hypoplasia ( J:199842 )

• at P21

behavior/neurological

increased aggression ( J:199842 )

• autoaggression (biting of their toes) in 13 of 15 mice

impaired balance ( J:199842 )

• impaired ability to walk and balance on a rod

• however, mice walk normally otherwise

impaired coordination ( J:199842 )

• impaired ability to walk and balance on a rod

• however, mice walk normally otherwise

growth/size/body

decreased body size ( J:199842 )

• at P5

decreased body weight ( J:199842 )

cellular

impaired neuron differentiation ( J:199842 )

• in the dentate granule cell layer

• however, no increase in astrocytic differentiation is observed in the dentate gyrus

increased neuronal precursor proliferation ( J:199842 )

• expansion of the pool of proliferating hippocampal progenitor cells in the third postnatal week

Genotype
MGI:5523950

cn36

• Allelic Composition: Hsd17b4^tm2Baes/Hsd17b4^tm2Baes; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

premature death ( J:201698 )

• mice are euthanized beyond 12 months due to severe coordination defects

• however, most mice survive to at least 1 year of age

reproductive system

reduced female fertility ( J:201698 )

♀ • fewer and smaller litters than control mice

decreased litter size ( J:201698 )

♀ • from female mice

male infertility ( J:201698 )

♂

nervous system

microgliosis ( J:201698 )

• minor at 6 months

cerebellum atrophy ( J:201698 )

• cerebella atrophy

neuron degeneration ( J:201698 )

• neuronal death after 6 months

Purkinje cell degeneration ( J:201698 )

• at 12 months of age

axon degeneration ( J:201698 )

• loss of axonal integrity with swelling prior to demyelination

demyelination ( J:201698 )

• myelin loss between 4 and 6 months in cerebellar branches, worsen at 10 to 12 months

• however, myelination in the central white matter is normal

behavior/neurological

increased anxiety-related response ( J:201698 )

• anxious phenotype beyond 12 weeks

tremors ( J:201698 )

• beyond 12 weeks

ataxia ( J:201698 )

• beyond 12 weeks

• severe at 12 months

impaired coordination ( J:201698 )

• on a rotarod from 4 weeks, worsening with age

• from 12 weeks of age, mice exhibit frequent falls

abnormal gait ( J:201698 )

• unsteady gait beyond 12 weeks, worsening by 6 months

• mice exhibit poor fore limb hind limb coordination with ipsilateral paw placement

short stride length ( J:201698 )

• with increased stance at 6 months

homeostasis/metabolism

increased fatty acids level ( J:201698 )

• accumulation of long chain fatty acids in the cerebellum and cortex

growth/size/body

decreased body weight ( J:201698 )

• at P7, P21 and beyond

postnatal growth retardation ( J:201698 )

• pre- and post-weaning

hematopoietic system

microgliosis ( J:201698 )

• minor at 6 months

immune system

microgliosis ( J:201698 )

• minor at 6 months

Genotype
MGI:3831342

cn37

• Allelic Composition: Brca2^tm1Brn/Brca2^tm1Brn; Ptch1^tm1Mps/Ptch1⁺; Trp53^tm1Tyj/Trp53⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

neoplasm

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 10 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 10 weeks

Genotype
MGI:6358689

cn38

• Allelic Composition: Golga2^tm1.1Baos/Golga2^tm1.1Baos; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:272184 )

N • unlike germline null mice, mice are viable

nervous system

increased neuron apoptosis ( J:272184 )

• elevated levels of apoptosis markers indicating increased Purkinje cell death

abnormal Purkinje cell morphology ( J:272184 )

• decrease in the amount of plasma membrane AMPA-type glutamate receptor subunits in the postsynaptic density fraction from the cerebellum

Purkinje cell degeneration ( J:272184 )

• degeneration is first seen in lobules X and IX at 3 weeks of age and then spreads to other regions with age

• however, no degeneration of neurons is seen in the molecular or granule layers of the cerebellum

abnormal Purkinje cell dendrite morphology ( J:272184 )

• decrease in dendrite size and arborization at P30

• dendrites at P30 are smaller than those at P9 indicating both failure to grow and atrophy

decreased Purkinje cell number ( J:272184 )

• loss of Purkinje cells beginning at 3 weeks of age

thin cerebellar molecular layer ( J:272184 )

• becomes thinner with age in correlation with loss of Purkinje cells

small cerebellum ( J:272184 )

• dramatically reduced in size

cellular

abnormal Golgi apparatus morphology ( J:272184 )

• compaction of the Golgi apparatus at P14 and P28 in Purkinje cells and a similar disruption is seen in granule cells in the cerebellum

• absence of Golgi outposts in primary dendrites of Purkinje cells at P8

• Golgi apparatus is located on the opposite side of the soma to the primary dendrite and the apparatus is dissociated from the centrosome indicating a loss of Golgi polarity in Purkinje cells at P14 and P28

abnormal Golgi cisterna morphology ( J:272184 )

• loss of cisternal stacking and cisternal length and an accumulation of vesicular profiles localized to the perinuclear region

increased neuron apoptosis ( J:272184 )

• elevated levels of apoptosis markers indicating increased Purkinje cell death

abnormal Golgi vesicle transport ( J:272184 )

• impaired secretory trafficking

• reduced soma to dendrite trafficking of GRIA2 in Purkinje cells

behavior/neurological

limb grasping ( J:272184 )

• limp reflex when lifted by the tail

ataxia ( J:272184 )

• ataxic gait

• coordination defects are mild in young mice and progressively worsen with age

impaired coordination ( J:272184 )

• slight reduction in time spent on a rotarod at 3 weeks of age and this reduction becomes more profound with age (8 and 12 weeks)

• require more time to cross balance beams of multiple sizes

growth/size/body

postnatal growth retardation ( J:272184 )

• growth retardation is less than that in germline null mice

Genotype
MGI:3851590

cn39

• Allelic Composition: Shc1^tm1Ravi/Shc1^tm1Ravi; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:111058 )

• body weight is less than controls at 25 days of age

nervous system

decreased brain size ( J:111058 )

• brain weight is less than controls at 25 days of age

Genotype
MGI:3851591

cn40

• Allelic Composition: Tg(EEF1A1-SHC1*)1Ravi/0; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:111058 )

• at birth and during early postnatal development, there is a slight body weight difference

• the biggest differences occur at 21 days of age

• later in life males have bigger body weight differences than females

nervous system

increased neuron apoptosis ( J:111058 )

• apoptosis among neural progenitors is increased during embryonic brain development

• apoptosis is noted in the frontal cortex at E12.5 and in the pons at E10.5 and E12.5

decreased brain size ( J:111058 )

• brain weight is less than controls from 2 days of age to 1 year in age

• the biggest differences occur at 21 days of age

decreased striatum size ( J:111058 )

• the stratium area is smaller at 2 days of age than controls and becomes even smaller at 21 days of age

abnormal primary somatosensory cortex morphology ( J:111058 )

• the entire thickness of the primary somatosensory cortex is reduced to less than 85% of controls

• layers II through IV are more dramatically affected (reduced by less 60% of controls in layer IV) than layers V-VI (reduced by 92% of controls)

thin cerebral cortex ( J:111058 )

• the cerebral cortex is thinner at 2 days of age than controls and becomes even thinner at 21 days of age

• at 2 days of age, the cerebral cortex is 58% smaller than controls which is more affected than other parts of the brain

small olfactory bulb ( J:111058 )

• olfactory bulb is 82% of controls at 2 days of age

abnormal postnatal subventricular zone morphology ( J:111058 )

• the SVZ area is smaller at 2 days of age than controls and becomes even smaller at 21 days of age

decreased neuronal precursor cell number ( J:111058 )

• apoptosis among neural progenitors is increased during embryonic brain development

• proliferation of neural progenitors is not changed so presumably there are less progenitor cells in the developing brain

cellular

increased neuron apoptosis ( J:111058 )

• apoptosis among neural progenitors is increased during embryonic brain development

• apoptosis is noted in the frontal cortex at E12.5 and in the pons at E10.5 and E12.5

Genotype
MGI:5449209

cn41

• Allelic Composition: Ccdc88a^tm4.1Mat/Ccdc88a⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

nervous system

small olfactory bulb ( J:190129 )

• not as severe as in homozygous mice

Genotype
MGI:7443115

cn42

• Allelic Composition: Cap1^tm1.1Mbrst/Cap1^tm1.1Mbrst; Cfl1^tm1.1Wit/Cfl1^tm1.1Wit; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

cellular

impaired neuron differentiation ( J:333563 )

• impaired growth cone morphology and motility

nervous system

impaired neuron differentiation ( J:333563 )

• impaired growth cone morphology and motility

Genotype
MGI:5490900

cn43

• Allelic Composition: Asic1^tm1.1Ccli/Asic1^tm1.1Ccli; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:193892 )

N • hippocampal long term potentiation is similar to controls

abnormal CNS synaptic transmission ( J:193892 )

• absence of ASIC-like currents in nucleated patches isolated from interneurons in stratum oriens alveus

behavior/neurological

behavior/neurological phenotype ( J:193892 )

N • spatial memory and learning are similar to controls

Genotype
MGI:5471311

cn44

• Allelic Composition: Sp2^tm1.1Htg/Sp2⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

nervous system

decreased neuronal precursor proliferation ( J:194076 )

• reduced proliferation of neural stem and neural progenitor cells in the subependymal zone and rostral migratory stream

abnormal rostral migratory stream morphology ( J:194076 )

• enlarged due to increased neuroblasts

abnormal cerebral hemisphere morphology ( J:194076 )

• reduced volume at P21

decreased hippocampus volume ( J:194076 )

• reduced volume at P21

small olfactory bulb ( J:194076 )

• reduced volume at P21

growth/size/body

decreased body size ( J:194076 )

• at P7 and P21

postnatal growth retardation ( J:194076 )

• at P7 and P21

cellular

decreased neuronal precursor proliferation ( J:194076 )

• reduced proliferation of neural stem and neural progenitor cells in the subependymal zone and rostral migratory stream

Genotype
MGI:5449208

cn45

• Allelic Composition: Ccdc88a^tm4.1Mat/Ccdc88a^tm4.1Mat; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:190129 )

• no mice are successfully weaned

• start to die after P12 with none surviving past P29

growth/size/body

decreased body weight ( J:190129 )

• starting at P5

postnatal growth retardation ( J:190129 )

behavior/neurological

decreased locomotor activity ( J:190129 )

• inactive

nervous system

abnormal rostral migratory stream morphology ( J:190129 )

• wider at P21

abnormal dentate gyrus morphology ( J:190129 )

• increase in the width of the layer of DCX-positive neurons at P15

small olfactory bulb ( J:190129 )

Genotype
MGI:5471309

cn46

• Allelic Composition: Sp2^tm1.1Htg/Sp2^tm1.1Htg; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

premature death ( J:194076 )

• many mice die between 2 and 5 weeks after birth with few surviving into adulthood

postnatal lethality, incomplete penetrance ( J:194076 )

• many mice die between 2 and 5 weeks after birth with few surviving into adulthood

nervous system

abnormal neuron differentiation ( J:194076 )

• severely disrupted neuronal and glial differentiation

decreased neuronal precursor proliferation ( J:194076 )

• reduced proliferation of neural stem and neural progenitor cells in the subependymal zone and rostral migratory stream

abnormal rostral migratory stream morphology ( J:194076 )

• enlarged due to increased neuroblasts

hydrocephaly ( J:194076 )

• mild in some mice at P21

abnormal cerebral hemisphere morphology ( J:194076 )

• reduced volume at P21

decreased hippocampus volume ( J:194076 )

• reduced volume at P21

small olfactory bulb ( J:194076 )

• reduced volume at P21

growth/size/body

decreased body size ( J:194076 )

• at P7 and P21

postnatal growth retardation ( J:194076 )

• at P7 and P21

cellular

abnormal cell cycle ( J:194076 )

• increased M-phase of neural stem and neural progenitor cells in the subependymal zone and rostral migratory stream of postnatal mice

• shortened G2-M transition in neural stem and neural progenitor cells

• partial arrest in G2 and M phase in neural stem and neural progenitor cells

• reduced proportion of neural stem and neural progenitor cells in G1/G0

• however, S phase duration is normal

abnormal neuron differentiation ( J:194076 )

• severely disrupted neuronal and glial differentiation

decreased neuronal precursor proliferation ( J:194076 )

• reduced proliferation of neural stem and neural progenitor cells in the subependymal zone and rostral migratory stream

Genotype
MGI:4353815

cn47

• Allelic Composition: Gt(ROSA)26Sor^{tm1(SNCA*A53T)Djmo}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:150777 )

Genotype
MGI:6317188

cn48

• Allelic Composition: Tg(Nes-cre)1Kln/0; Thra^tm1Ffla/Thra⁺
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:268664 )

nervous system

abnormal cerebellum morphology ( J:268664 )

Genotype
MGI:5576197

cn49

• Allelic Composition: Deaf1^tm1.1Mico/Deaf1^tm1.1Mico; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

behavior/neurological

behavior/neurological phenotype ( J:211699 )

♂N • learn to find a visible platform in a Morris water maze with efficiency equivalent to controls

enhanced spatial learning ( J:211699 )

♂ • find a submerged platform moved to the opposite quadrant faster than controls when retested 48 hours after first exposure, but only on first trial

♂ • subsequent trials and trials 7 days later are like controls

decreased fear-related response ( J:211699 )

♂ • reduced freezing behavior in response to foot shock

♂ • significantly reduced contextual fear memory 24 hours after first test (similar result with heterozygotes)

Genotype
MGI:6710963

cn50

• Allelic Composition: Gt(ROSA)26Sor^{em1(Tor1b)Wtd}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:288753 )

• decreased body weight before P56

behavior/neurological

behavior/neurological phenotype ( J:288753 )

N • mice do not show overt motor abnormalities

mortality/aging

mortality/aging ( J:288753 )

N • mice show normal survival

nervous system

nervous system phenotype ( J:288753 )

N • brain morphology and size appear normal

Genotype
MGI:5002665

cn51

• Allelic Composition: Pdcd10^tm1Wami/Pdcd10^tm1Wami; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:171969 )

N • mice exhibit normal Mendelian ratio after birth

postnatal lethality, complete penetrance ( J:170480 )

• mice do not survive past P3

prenatal lethality, incomplete penetrance ( J:170480 )

• fewer than expected mice are born

nervous system

abnormal brain morphology ( J:170480 )

• abnormal cytoarchitecture

increased brain size ( J:170480 )

Genotype
MGI:6317187

cn52

• Allelic Composition: Tg(Nes-cre)1Kln/0; Thra^em6Ffla/Thra⁺
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:268664 )

nervous system

abnormal cerebellum morphology ( J:268664 )

Genotype
MGI:3836814

cn53

• Allelic Composition: Mycn^tm1Psk/Mycn^tm1Psk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

growth/size/body

microcephaly ( J:79489 )

• decrease in head size can be detected at E12.5

postnatal growth retardation ( J:79489 )

• moderate growth retardation

nervous system

nervous system phenotype ( J:79489 )

N • neuronal precursor cell apoptosis is similar to controls

abnormal neuron differentiation ( J:79489 )

• progenitor cells display smaller nuclei

premature neuronal precursor differentiation ( J:79489 )

• premature differentiation is seen both in vivo and in vitro

abnormal neuronal precursor proliferation ( J:79489 )

• striking reduction in proliferation in the central nervous system in general at E13

• only a very small fraction of cells in the interior of the cerebellum primordium are proliferating at E13

• significant decrease in the number of proliferating cells in the ventricular zone of the telencephalon at E13

abnormal embryonic neuroepithelium morphology ( J:79489 )

• the cerebellar neuroepithelium appears thinner, displays breaks, and has a deficiency in progenitor cells

decreased embryonic neuroepithelium thickness ( J:79489 )

• the cerebellar neuroepithelium appears thinner

abnormal cortical ventricular zone morphology ( J:79489 )

• many regions of the VZ are noticeably reduced in thickness

• at E17.5 in the lateral VZ neuroprogenitor cells are more rounded and more densely packed

decreased brain size ( J:79489 )

• at 8 - 16 weeks of age mice display profound microencephaly

• decrease in brain size can be detected at E12.5

• total brain mass relative to total body weight is reduced 2 fold compared to controls

abnormal cerebral cortex morphology ( J:79489 )

• the developing cerebral cortex is particularly small

abnormal cerebellum morphology ( J:79489 )

• cerebellum appears disorganized

• at P20 in the rostral region all 3 layers are severely affected

abnormal cerebellum development ( J:79489 )

• profound reduction in the progenitor cell pool in both the external granule cell layer and in the neuroepithelium

• at E12.5 a significant reduction in neuroprogenitor cell numbers is seen in the cerebellar neuroepithelium and rhombic lip and the interior differentiating zone is reduced in size

• at E17.5 a subset of rhombic lip neuroprogenitor cells are more rounded and more densely packed

abnormal cerebellar foliation ( J:79489 )

• severe defects in foliation

abnormal cerebellum external granule cell layer morphology ( J:79489 )

• profound reduction in the progenitor cell pool

• decrease is more pronounced in the rostral region

• the most rostral portion of the EGL is absent

abnormal cerebellar Purkinje cell layer ( J:79489 )

• disrupted

decreased Purkinje cell number ( J:79489 )

ectopic Purkinje cell ( J:79489 )

abnormal cerebellar granule layer morphology ( J:79489 )

• granule cell density is reduced 3- to 6-fold

• at P20 total granule cell numbers are reduced about 30-fold

abnormal cerebellar molecular layer ( J:79489 )

• fails to expand resulting in decreased area and decreased cell number

small cerebellum ( J:79489 )

• the developing cerebellum is particularly small

• at P20 the absolute weight and percent of total brain weight of the cerebellum is reduced by 4- to 6-fold compared to controls

decreased neuronal precursor cell number ( J:79489 )

• in the cerebellar neuroepithelium, rhombic lip, and external granule cell layer at E12.5 and E17.5

vision/eye

microphthalmia ( J:79489 )

embryo

abnormal embryonic neuroepithelium morphology ( J:79489 )

• the cerebellar neuroepithelium appears thinner, displays breaks, and has a deficiency in progenitor cells

decreased embryonic neuroepithelium thickness ( J:79489 )

• the cerebellar neuroepithelium appears thinner

cellular

abnormal neuron differentiation ( J:79489 )

• progenitor cells display smaller nuclei

premature neuronal precursor differentiation ( J:79489 )

• premature differentiation is seen both in vivo and in vitro

abnormal neuronal precursor proliferation ( J:79489 )

• striking reduction in proliferation in the central nervous system in general at E13

• only a very small fraction of cells in the interior of the cerebellum primordium are proliferating at E13

• significant decrease in the number of proliferating cells in the ventricular zone of the telencephalon at E13

Genotype
MGI:4867645

cn54

• Allelic Composition: Fbxw7^tm1.1Axbe/Fbxw7^tm1.1Axbe; Notch1^tm1Agt/Notch1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

nervous system

abnormal neuron differentiation ( J:166928 )

• the number of Map+ cells that differentiate in culture is increased while the number of Nes+ cells is decreased compared to in cultures from wild-type mice

cellular

abnormal neuron differentiation ( J:166928 )

• the number of Map+ cells that differentiate in culture is increased while the number of Nes+ cells is decreased compared to in cultures from wild-type mice

Genotype
MGI:4849288

cn55

• Allelic Composition: Ahi1^tm1Xjl/Ahi1^tm1Xjl; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

behavior/neurological

behavior/neurological phenotype ( J:166236 )

N • mice do not exhibit increased anxiety in an open field, dark/light box, or elevated plus maze

behavioral despair ( J:166236 )

• at 7 to 9 months and 12 to 15 months, mice spend more time immobile in a forced swim test (FTS) or tail suspension test (TST) than wild-type mice

• mice exhibit less escape activity from a water tank compared with wild-type mice

• however, treatment with antidepressants improves mobility in FTS and TST

Genotype
MGI:2679378

cn56

• Allelic Composition: Fos^tm7Wag/Fos^tm7Wag; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129P2/OlaHsd

behavior/neurological

abnormal associative learning ( J:85928 )

abnormal contextual conditioning behavior ( J:85928 )

• deficiencies in contextual fear response

abnormal spatial learning ( J:85928 )

• spatial learning anomalies were indicated in a Morris water test

nervous system

reduced long-term potentiation ( J:85928 )

• in the CA1 and CA3 regions long term potentiation is reduced after a single tetanic stimulation but normal LTP after 4 stimuli

Genotype
MGI:3710322

cn57

• Allelic Composition: Cdkn2c^tm1Bbd/Cdkn2c^tm1Bbd; Trp53^tm1Brn/Trp53^tm1Tyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

neoplasm

increased medulloblastoma incidence ( J:102702 )

• 4/4 of mice receiving 4 Gy radiation at P5 develop cerebellar tumors by 5 months of age

nervous system

increased medulloblastoma incidence ( J:102702 )

• 4/4 of mice receiving 4 Gy radiation at P5 develop cerebellar tumors by 5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:102702

Genotype
MGI:5052134

cn58

• Allelic Composition: Met^tm1Cpo/Met^tm1Sst; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL

vision/eye

vision/eye phenotype ( J:173661 )

N • no effect on retinal ganglion cell survival after optic nerve axotomy

Genotype
MGI:3713581

cn59

• Allelic Composition: Braf^tm1Sva/Braf^tm1.1Sva; Raf1^tm1Bacc/Raf1^tm2Bacc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:121660 )

• no double conditional embryos are found live at E14-15, but can be isolated at E13

nervous system

abnormal axon extension ( J:121660 )

• DRG neurons cultured with NGF for 5 days show impaired axon outgrowth

abnormal innervation ( J:121660 )

• sensory nerve trunks form normally, but distal arborization is reduced compared to controls

abnormal dorsal root ganglion morphology ( J:121660 )

• at E13, Ret levels in DRGs are reduced

cellular

abnormal axon extension ( J:121660 )

• DRG neurons cultured with NGF for 5 days show impaired axon outgrowth

Genotype
MGI:3713555

cn60

• Allelic Composition: Braf^tm1Sva/Braf^tm1Sva; Raf1^tm2Bacc/Raf1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:121660 )

• most die before weaning

growth/size/body

postnatal growth retardation ( J:121660 )

• mice are smaller in the postnatal period than Braf conditional knockouts

nervous system

abnormal innervation ( J:121660 )

• deficiency of terminal axonal projections of parvalbumin-positive neurons toward the lateral motor pools of the spinal cord is seen compared to controls

abnormal sensory neuron innervation pattern ( J:121660 )

• proprioceptive axons enter spinal cord normally, but few progress beyond intermediate zone

abnormal dorsal root ganglion morphology ( J:121660 )

• at P12, number of Ret+ neurons in DRG is reduced; numbers of CGRG+ neurons are increased

Genotype
MGI:5285657

cn61

• Allelic Composition: Met^tm1Cpo/Met^tm1Sst; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

nervous system

abnormal motor neuron innervation pattern ( J:174591 )

• mice exhibit reduced motor axon arborization (length and number of branches) in the pectoralis minor muscle compared with wild-type mice

• at P2, endplates in the pectoralis minor exhibit increased partially or completely denervated synapses compared with wild-type endplates

• however, mice exhibit normal innervation of the pectoralis minor muscle at E15.5 and of the pectoralis major

decreased motor neuron number ( J:174591 )

• by P2 in the C8 and T1 region of the spinal cord with no further reduction in adult mice

abnormal neuromuscular synapse morphology ( J:174591 )

• mice exhibit reduced motor axon arborization (length and number of branches) in the pectoralis minor muscle compared with wild-type mice

• at P2, endplates in the pectoralis minor exhibit increased partially or completely denervated synapses compared with wild-type endplates

• however, mice exhibit normal innervation of the pectoralis minor muscle at E15.5 and of the pectoralis major

behavior/neurological

impaired coordination ( J:174591 )

• in a wire hang test but not a rotarod

Genotype
MGI:5308810

cn62

• Allelic Composition: Pitx2^tm1.1Dmm/Pitx2^tm1.1Sac; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

nervous system

abnormal nervous system tract morphology ( J:181058 )

• mammillothalamic tract fibers are truncated or severely diminished compared to in control mice

• PAX6+ cells at the principal mammillary tract-mammillothalamic tract bifurcation are reduced compared to in control mice

• however, mice exhibit intact principal mammillary and mammillotegmental projections

Genotype
MGI:3713654

cn63

• Allelic Composition: Braf^tm1Wds/Braf^tm1.1Wds; Raf1^tm1Bacc/Raf1^tm2Bacc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:121660 )

• no double conditional embryos are found live at E14-15, but can be isolated at E13

nervous system

abnormal axon extension ( J:121660 )

• DRG neurons cultured with NGF for 5 days show impaired axon outgrowth

abnormal innervation ( J:121660 )

• sensory nerve trunks form normally, but distal arborization is reduced compared to controls

abnormal dorsal root ganglion morphology ( J:121660 )

• at E13, Ret levels in DRGs are reduced

cellular

abnormal axon extension ( J:121660 )

• DRG neurons cultured with NGF for 5 days show impaired axon outgrowth

Genotype
MGI:3831341

cn64

• Allelic Composition: Brca2^tm1Brn/Brca2^tm1Brn; Trp53^tm1Tyj/Trp53^tm1Tyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL

neoplasm

increased medulloblastoma incidence ( J:144617 )

• 87% of mice develop medulloblastoma beginning at 13 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 87% of mice develop medulloblastoma beginning at 13 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:144617

Genotype
MGI:5316228

cn65

• Allelic Composition: Atr^tm2Bal/Atr^tm2Bal; Cdkn2a^tm2Brn/Cdkn2a^tm2Brn; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL

nervous system

abnormal nervous system morphology ( J:181920 )

• similar neuropathology to mutant mice wild-type for Cdkn2a

Genotype
MGI:3831340

cn66

• Allelic Composition: Brca2^tm1Brn/Brca2^tm1Brn; Trp53^tm1Tyj/Trp53⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL

neoplasm

abnormal tumor morphology ( J:144617 )

• tumors exhibit a loss of heterozygosity at the Trp53 gene

increased medulloblastoma incidence ( J:144617 )

• 72% of mice develop medulloblastoma beginning at 21 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 72% of mice develop medulloblastoma beginning at 21 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:144617

Genotype
MGI:3710323

cn67

• Allelic Composition: Trp53^tm1Brn/Trp53^tm1Tyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL

neoplasm

increased medulloblastoma incidence ( J:102702 )

• 2/5 (40%) of mice receiving 4 Gy radiation at P5 develop cerebellar tumors by 5 months of age

nervous system

increased medulloblastoma incidence ( J:102702 )

• 2/5 (40%) of mice receiving 4 Gy radiation at P5 develop cerebellar tumors by 5 months of age

Genotype
MGI:3698834

cn68

• Allelic Composition: Ddb1^tm1Spg/Ddb1^tm1Spg; Trp53^tm1Tyj/Trp53^tm1Tyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:117820 )

• mutants do not survive for more than a day

nervous system

abnormal brain morphology ( J:117820 )

• ventricular zone (VZ) and subventricular zone (SVZ) are irregularly enlarged with many abnormal cells; cells show high frequency of mitotic figures, apoptosis and irregularly shaped nuclei

vision/eye

abnormal lens epithelium morphology ( J:117820 )

• loss of lens epithelium cells is rescued compared to Ddb1^tm1Spg;Tg(Nes-cre)1Kln mice; however, cells have abnormally large or small nuclei with irregular shapes and sporadic apoptosis

Genotype
MGI:5306156

cn69

• Allelic Composition: Itgav^tm2Hyn/Itgav^tm2.1Hyn; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6 * FVB * SJL

mortality/aging

increased susceptibility to bacterial infection induced morbidity/mortality ( J:94376 )

• mice have to be euthanized by 8 months due to urinary dysfunction and bacterial bladder infection

premature death ( J:94376 )

• some mice die by 4 weeks of age

• mice have to be euthanized by 8 months due to urinary dysfunction and bacterial bladder infection

nervous system

nervous system phenotype ( J:94376 )

N • mice do not exhibit peripheral nerve abnormalities

seizures ( J:94376 )

• more frequent by 6 months

convulsive seizures ( J:94376 )

abnormal brain vasculature morphology ( J:94376 )

• vascular abnormalities are initiated in the developing ganglionic eminences of the forebrain

• cerebral blood vessels are tortuous and distended compared to in control mice

intracranial hemorrhage ( J:94376 )

• microhemorrhage in the brain at 3 weeks

intracerebral hemorrhage ( J:94376 )

• at E14.5, mice develop small bilateral cerebral hemorrhages that become progressively more severe throughout embryogenesis unlike control mice

• less severe than in null mice

spinal hemorrhage ( J:94376 )

• microhemorrhage in the spinal cord at 3 weeks

abnormal glial cell morphology ( J:94376 )

• glial degeneration in the fasciculus gracilis white matter region

gliosis ( J:94376 )

abnormal embryonic/fetal subventricular zone morphology ( J:94376 )

• vascular abnormalities are initiated in the developing ganglionic eminences of the forebrain

axon degeneration ( J:94376 )

• in the fasciculus gracilis

axonal dystrophy ( J:94376 )

• in the fasciculus gracilis

demyelination ( J:94376 )

• in the spinal cord white matter

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:94376 )

• by 2 to 3 weeks, some mice develop motor dysfunction

• by 2 to 3 months, all mice exhibit hind limb coordination defects

abnormal involuntary movement ( J:94376 )

• mice exhibit involuntary tail wriggling

ataxia ( J:94376 )

impaired coordination ( J:94376 )

• on a rotarod

impaired limb coordination ( J:94376 )

• mice partially drag hind limbs

abnormal posture ( J:94376 )

• rigid at 2 to 3 months

abnormal gait ( J:94376 )

• rigid at 2 to 3 months

• mice exhibit toe-walking

• mice partially drag hind limbs

paraparesis ( J:94376 )

• spastic paraparesis by 6 months

seizures ( J:94376 )

• more frequent by 6 months

convulsive seizures ( J:94376 )

cardiovascular system

abnormal brain vasculature morphology ( J:94376 )

• vascular abnormalities are initiated in the developing ganglionic eminences of the forebrain

• cerebral blood vessels are tortuous and distended compared to in control mice

intracranial hemorrhage ( J:94376 )

• microhemorrhage in the brain at 3 weeks

intracerebral hemorrhage ( J:94376 )

• at E14.5, mice develop small bilateral cerebral hemorrhages that become progressively more severe throughout embryogenesis unlike control mice

• less severe than in null mice

spinal hemorrhage ( J:94376 )

• microhemorrhage in the spinal cord at 3 weeks

muscle

muscle phenotype ( J:94376 )

N • mice do not develop hind limb muscular atrophy

muscle hypertonia ( J:94376 )

• in hind limb muscles at 2 to 3 months

renal/urinary system

abnormal renal/urinary system physiology ( J:94376 )

• mice have to be euthanized by 8 months due to urinary dysfunction and bacterial bladder infection

immune system

increased susceptibility to bacterial infection induced morbidity/mortality ( J:94376 )

• mice have to be euthanized by 8 months due to urinary dysfunction and bacterial bladder infection

Genotype
MGI:4868751

cn70

• Allelic Composition: Fto^tm1.1Pzg/Fto^tm1.1Pzg; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * SJL

growth/size/body

decreased lean body mass ( J:166984 )

decreased body length ( J:166984 )

postnatal growth retardation ( J:166984 )

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:166984 )

abnormal carbon dioxide production ( J:166984 )

• relative to lean mass, mice exhibit increased oxygen consumption and carbon dioxide production compared with wild-type mice

abnormal oxygen consumption ( J:166984 )

• relative to lean mass, mice exhibit increased oxygen consumption and carbon dioxide production compared with wild-type mice

behavior/neurological

abnormal eating behavior ( J:166984 )

• when normalized to lean mass

skeleton

decreased bone mineral density ( J:166984 )

Genotype
MGI:5319079

cn71

• Allelic Composition: Tbxa2r^tm1Cof/Tbxa2r^tm1.1Bhk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 * SJL

respiratory system

abnormal airway resistance ( J:183333 )

• mice exposed to ovalbumin and U-46619 fail to exhibit increased airway resistance unlike control mice

• however, mice exposed to increasing doses of thromboxane receptor agonist U-46619 exhibit dose-dependent increase in airway resistance

Genotype
MGI:4414792

cn72

• Allelic Composition: Plec^tm4Gwi/Plec^tm4.1Gwi; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 * SJL

nervous system

decreased nerve conduction velocity ( J:155511 )

• in the sciatic nerve

Genotype
MGI:3582060

cn73

• Allelic Composition: Gjc1^tm1Weil/Gjc1^tm1Weil; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

vision/eye

abnormal eye physiology ( J:95984 )

• cone bipolar cells are present in mutants but they are void of glycine, indicating that neurotransmitter coupling between ON bipolar cells and glycinergic AII amacrine cells is disrupted in mutants

abnormal eye electrophysiology ( J:95984 )

• scotopic electroretinogram recordings in response to 20 msec white light flashes in dark-adapted mutants showed that b-wave amplitudes were smaller than in wild-type controls but a-waves did not differ, indicating a defect in the rod driven circuitry

Genotype
MGI:3026784

cn74

• Allelic Composition: Efnb2^tm4Kln/Efnb2^tm4Kln; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

nervous system

nervous system phenotype ( J:87398 )

N • normal hippocampal architecture

abnormal long-term depression ( J:87398 )

• reduced long term depression

Genotype
MGI:3582061

cn75

• Allelic Composition: Gjc1^tm1Kwi/Gjc1^tm1Weil; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

vision/eye

abnormal eye electrophysiology ( J:95984 )

• scotopic electroretinogram recordings in response to 20 msec white light flashes in dark-adapted mutants showed that b-wave amplitudes were 40% smaller than in wild-type controls but a-waves did not differ, indicating a defect in the rod driven circuitry

Genotype
MGI:5811146

cn76

• Allelic Composition: Plxnb1^tm1Matl/Plxnb1^tm1Matl; Plxnb2^{tm1c(EUCOMM)Wtsi}/Plxnb2^tm1Matl; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * C57BL/6N * SJL
• Cell Lines: EPD0051_2_D09

nervous system

nervous system phenotype ( J:228347 )

N • mice are born at Mendelian ratios and show no defects in neural tube closure

premature neuronal precursor differentiation ( J:228347 )

• at E15.5, a higher fraction of neural progenitor cells (NPCs) have exited cell cycle in the cortex relative to controls (~60% versus ~40% BrdU+ Ki67- cells per total number of BrdU+ cells), indicating premature exhaustion of the progenitor pool; however, cleavage plane orientation of radial glial progenitors (RGPs) relative to the ventricular zone (VZ) surface is normal

• in culture, NPCs derived from E14.5 forebrains exhibit a higher rate of spontaneous neural differentiation, as shown by an increased fraction of Tuj1+ (neuronal) and GalC+ (oligodendrocytic) cells

• the multi-lineage differentiation potential of cultured NPCs is normal

decreased neuronal precursor proliferation ( J:228347 )

• at E15.5, the number of proliferating NPCs in the caudomedial cortex is reduced by ~30%, as shown by Ki67 or BrdU staining at the VZ

• at E15.5, the number of mitotic phosphorylated histone 3-labeled (pH3+) RGPs at the ventricular surface of the caudomedial cortex is reduced by 26% while the number of phosphorylated vimentin-labeled RGPs is reduced by 21.1%

• in culture, NPCs derived from E14.5 forebrains show a ~55% decrease in the proliferative index of Ki67+ Nestin+ progenitors as well as a significant reduction in Olig2+ progenitors

• however, no significant differences in apoptosis are noted in the caudomedial cortex at E12.5 or E15.5

abnormal cortical ventricular zone morphology ( J:228347 )

• at E15.5, the number of proliferating NPCs in the caudomedial cortex is reduced by ~30%, as shown by Ki67 or BrdU staining at the VZ

• at E15.5, the number of pH3+ RGPs at the ventricular surface of the caudomedial cortex is reduced by 26% while the number of phosphorylated vimentin-labeled RGPs is reduced by 21.1%

• however, no defects are noted in the arrangement of apical cilia of VZ cells facing the ventricular lumen at E14.5

abnormal cerebellar lobule formation ( J:228347 )

• adult mice display underdevelopment of the rostral lobules with fusion of lobules 1-3, similar to Plxnb2^tm1Matl homozygotes

enlarged lateral ventricles ( J:228347 )

• at E15.5 and E17.5, lateral ventricles are often enlarged

decreased corpus callosum size ( J:228347 )

• adult brains display reduced size (thinning) of the corpus callosum

absent corpus callosum ( J:228347 )

• at P10, complete agenesis of the corpus callosum is often observed

abnormal cerebral cortex morphology ( J:228347 )

• at E15.5, cortical thickness and neuronal numbers are proportionally reduced in all layers, including germinal zones at the VZ/subventricular zone (SVZ) as well as distinct laminae in the cortical plate

• at E17.5, the number of early-born TBR1+ deep layer neurons is reduced by 34.6% in the caudomedial cortex; a similar reduction is noted in CTIP2+ deep layer cortical neurons

• at E17.5, the number of late-born SATB2+ upper layer neurons is reduced by 18.2%

• laminar organization of the cortex is normal at E17.5 and in adult mice

• no defects in lineage progression or overt radial or tangential migration defects are observed

thin cerebral cortex ( J:228347 )

• cortical thinning begins at E12.5, becomes more obvious at E15.5 and E17.5, and is more severe in medial than lateral, and caudal than rostral cortical areas with a bias for the caudomedial cortex

• at E15.5, brains exhibit thinning of the medial cortex with a ~21% reduction in overall thickness

• adult brains show less thinning of the caudomedial cortex (~12% reduction)

ectopic cerebellar granule cells ( J:228347 )

• adult mice display ectopias of granule cells in the molecular layer of caudal lobules, similar to Plxnb2^tm1Matl homozygotes

decreased neuronal precursor cell number ( J:228347 )

• at E15.5, the total number of SOX2+ neural progenitor cells in the caudomedial cortex is reduced by 19.2%

• at E15.5, the number of TBR2+ intermediate progenitor (IP) cells within the SVZ is reduced by 15%

cellular

premature neuronal precursor differentiation ( J:228347 )

• at E15.5, a higher fraction of neural progenitor cells (NPCs) have exited cell cycle in the cortex relative to controls (~60% versus ~40% BrdU+ Ki67- cells per total number of BrdU+ cells), indicating premature exhaustion of the progenitor pool; however, cleavage plane orientation of radial glial progenitors (RGPs) relative to the ventricular zone (VZ) surface is normal

• in culture, NPCs derived from E14.5 forebrains exhibit a higher rate of spontaneous neural differentiation, as shown by an increased fraction of Tuj1+ (neuronal) and GalC+ (oligodendrocytic) cells

• the multi-lineage differentiation potential of cultured NPCs is normal

decreased neuronal precursor proliferation ( J:228347 )

• at E15.5, the number of proliferating NPCs in the caudomedial cortex is reduced by ~30%, as shown by Ki67 or BrdU staining at the VZ

• at E15.5, the number of mitotic phosphorylated histone 3-labeled (pH3+) RGPs at the ventricular surface of the caudomedial cortex is reduced by 26% while the number of phosphorylated vimentin-labeled RGPs is reduced by 21.1%

• in culture, NPCs derived from E14.5 forebrains show a ~55% decrease in the proliferative index of Ki67+ Nestin+ progenitors as well as a significant reduction in Olig2+ progenitors

• however, no significant differences in apoptosis are noted in the caudomedial cortex at E12.5 or E15.5

Genotype
MGI:5811236

cn77

• Allelic Composition: Plxnb2^{tm1c(EUCOMM)Wtsi}/Plxnb2^tm1Matl; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * C57BL/6N * SJL
• Cell Lines: EPD0051_2_D09

nervous system

nervous system phenotype ( J:228347 )

N • mice are born at Mendelian ratios and show no defects in neural tube closure or cortical development

abnormal neuronal precursor cell migration ( J:228347 )

• adult mice display migratory defects of neuroblasts in the rostral migratory stream, similar to Plxnb2^tm1Matl homozygotes

abnormal cerebellar lobule formation ( J:228347 )

• adult mice display underdevelopment of the rostral lobules with fusion of lobules 1-3, similar to Plxnb2^tm1Matl homozygotes

abnormal olfactory bulb development ( J:228347 )

abnormal rostral migratory stream morphology ( J:228347 )

• migrating cells in the rostral migratory stream (RMS) persist in chain formation after exiting the RMS, similar to Plxnb2^tm1Matl homozygotes

ectopic cerebellar granule cells ( J:228347 )

• adult mice display ectopias of granule cells in the molecular layer of caudal lobules, similar to Plxnb2^tm1Matl homozygotes

cellular

abnormal neuronal precursor cell migration ( J:228347 )

• adult mice display migratory defects of neuroblasts in the rostral migratory stream, similar to Plxnb2^tm1Matl homozygotes

Genotype
MGI:3818511

cn78

• Allelic Composition: Mapk8ip3^tm1Ysok/Mapk8ip3^tm1Ysok; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:141459 )

• no mice are alive at P2

neonatal lethality, incomplete penetrance ( J:141459 )

• despite being born in Mendelian ratios, fewer than expected mice are found at P0 and P1

nervous system

abnormal dorsal telencephalic commissure morphology ( J:141459 )

• mice lack the telencephalic commissure

Genotype
MGI:5141431

cn79

• Allelic Composition: Dab1^tm1.1Mull/Dab1^tm1.1Mull; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL

nervous system

abnormal neuronal migration ( J:174747 )

• at E16.5, neuron layers is defective compared to in control mice

abnormal telencephalon development ( J:174747 )

• the preplate fails to split unlike in control mice

abnormal cortical marginal zone morphology ( J:174747 )

• at E16.5, mice lack the marginal zone unlike control mice

absent subplate ( J:174747 )

• at E16.5

behavior/neurological

tremors ( J:174747 )

ataxia ( J:174747 )

cellular

abnormal neuronal migration ( J:174747 )

• at E16.5, neuron layers is defective compared to in control mice

Genotype
MGI:3843824

cn80

• Allelic Composition: Pdha1^tm1Ptl/Pdha1^tm1Ptl; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL

mortality/aging

prenatal lethality, incomplete penetrance ( J:94805 )

♀ • 50% fewer than expected mice are born

nervous system

decreased brain weight ( J:94805 )

♀ • at P35

abnormal brain white matter morphology ( J:94805 )

♀ • white matter structures of the forebrain including the commissural anterior (pars anterior), lateral olfactory tract, and corpus callosum are smaller and underdeveloped

decreased corpus callosum size ( J:94805 )

♀ • small and underdeveloped

abnormal cerebellar peduncle morphology ( J:94805 )

♀ • the size of the cerebellar peduncles are smaller than in wild-type mice

abnormal putamen morphology ( J:94805 )

♀ • the nucleus caudatus/putamen exhibit irregular local heterotopias and fibers are less organized and of smaller diameter than in wild-type mice

decreased stria medullaris size ( J:94805 )

♀ • the stria medullaris is smaller and has fewer fibers than in wild-type mice

abnormal thalamus morphology ( J:94805 )

♀ • neurons within the nuclei paraventricularis and anterodorsalis are reduced in density and number compared to in wild-type mice

abnormal paraventricular thalamic nucleus morphology ( J:94805 )

♀

abnormal cerebral cortex pyramidal cell morphology ( J:94805 )

♀ • pyramidal cells are not arranged in a tight cellular layer as in wild-type mice

abnormal neocortex morphology ( J:94805 )

♀ • the thickness of neocortex is reduced with irregularly distributed sites of disturbed cytoarchitecture compared to in wild-type mice

♀ • some mice exhibit neurons clustered in local heterotopia or as single layers with a lower neuronal density in the surrounding areas unlike in wild-type mice

♀ • neuropils appear to have fewer than expected fibers

abnormal olfactory tract morphology ( J:94805 )

♀ • the lateral olfactory tract is smaller and underdeveloped

decreased Purkinje cell number ( J:94805 )

♀

abnormal cerebellar granule layer morphology ( J:94805 )

♀ • the granule cell layer is reduced in an irregular pattern

abnormal cerebellar molecular layer ( J:94805 )

♀ • small with fewer fibers

abnormal cerebellum deep nucleus morphology ( J:94805 )

♀ • the cerebellar nuclei within the white matter exhibits local heterotopias and distributed neuropil

small cerebellum ( J:94805 )

♀

Genotype
MGI:3843822

cn81

• Allelic Composition: Pdha1^tm1Ptl/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL

mortality/aging

prenatal lethality, complete penetrance ( J:94805 )

♂ • mice die prenatally

Genotype
MGI:5495326

cn82

• Allelic Composition: Cdc42^tm1.1Rac/Cdc42^tm1.1Rac; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:197886 )

• mice die within 72 hours of birth

nervous system

intraventricular hemorrhage ( J:197886 )

• more than half of mice exhibit mild or moderate hemorrhage in the lateral ventricle of the brain

abnormal neuronal precursor proliferation ( J:197886 )

• at E14.5, only sporadic proliferating cells are located in the basal ventricular zone and subventricular zone compared with wild-type mice

• at E16.5, proliferating cells are displaced from the ventricular surface and are present randomly in the basal ventricular and subventricular zone compared with wild-type mice

abnormal cortical plate morphology ( J:197886 )

• decreased cell number at E16.5

abnormal cortical ventricular zone morphology ( J:197886 )

• decreased cell number at E16.5

• nuclei lose their apical-basal direction

decreased cortical ventricular zone cell density ( J:197886 )

• decreased cell number at E16.5

abnormal brain ependyma morphology ( J:197886 )

• clustering of the ependymal cells

• lack of lining ependymal cells inside the third ventricle, aqueduct and spinal cord central canal

enlarged brain ventricles ( J:197886 )

• bilateral

abnormal lateral ventricle morphology ( J:197886 )

• more than half of mice exhibit mild or moderate hemorrhage in the lateral ventricle of the brain

• neuronal cells lining the lateral ventricle lack apical membrane domain

abnormal third ventricle morphology ( J:197886 )

• lack of lining ependymal cells

abnormal cerebral aqueduct morphology ( J:197886 )

• lack of lining ependymal cells

cerebral aqueductal stenosis ( J:197886 )

abnormal cerebral cortex morphology ( J:197886 )

• slight increase in cell numbers with disruption of cell polarization at E14.5

• flattened surface with hypoplasia

abnormal neocortex morphology ( J:197886 )

• abnormal orientation at E16.5 indicating a folding problem

thin cerebral cortex ( J:197886 )

• lacking ventricular and sub-ventricular zones

small olfactory bulb ( J:197886 )

• slightly

abnormal glial cell morphology ( J:197886 )

• E18.5 glial cells exhibit a fried egg morphology in culture unlike wild-type cells

decreased neuronal precursor cell number ( J:197886 )

• decreased apical neuronal progenitor cell numbers in the cerebral cortex at E14.5 and E16.5

abnormal spinal cord central canal morphology ( J:197886 )

• collapse of the central canal and lack of differentiated ependymal cells

cellular

abnormal cell nucleus morphology ( J:197886 )

• at E14.5 and E16.5, radial glial cell nuclei exhibit impaired interkinetic nuclear migration compared to in wild-type cells

abnormal neuronal precursor proliferation ( J:197886 )

• at E14.5, only sporadic proliferating cells are located in the basal ventricular zone and subventricular zone compared with wild-type mice

• at E16.5, proliferating cells are displaced from the ventricular surface and are present randomly in the basal ventricular and subventricular zone compared with wild-type mice

behavior/neurological

absent gastric milk in neonates ( J:197886 )

decreased locomotor activity ( J:197886 )

• in neonates

cardiovascular system

intraventricular hemorrhage ( J:197886 )

• more than half of mice exhibit mild or moderate hemorrhage in the lateral ventricle of the brain

respiratory system

respiratory distress ( J:197886 )

• in neonates

Genotype
MGI:2176972

cn83

• Allelic Composition: Nr3c1^tm2Gsc/Nr3c1^tm2Gsc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL

behavior/neurological

abnormal fear/anxiety-related behavior ( J:57315 )

• impaired stress response in Porsolt forced-swim test; mice show normal immobility scores in an initial test, but do not show an increased response in a 24-hour restest

decreased anxiety-related response ( J:57315 )

• in a light-dark crossing task test, mice exhibit a reduced latentcy in entering an aversive bright compartment and spent more time there

• in a zero-maze test, mice demonstrated an increased number of entries into the averse open segment and spent more time there

growth/size/body

decreased body size ( J:57315 )

decreased body weight ( J:57315 )

• mice are 70+/-3% of the weight of control mice at 6-14 weeks of age

decreased body length ( J:57315 )

• mice are 82+/-0.4% of the length of control mice at 6-14 weeks of age

skeleton

decreased bone mineral density ( J:57315 )

• bone density is reduced in the skull and pelvis bones

osteoporosis ( J:57315 )

adipose tissue

abnormal adipose tissue distribution ( J:57315 )

• a displacement of fat tissue towards the head and neck from the rest of the body is apparent

• mice are not obese

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:57315 )

N • the morphology of the adrenal glands is similar to controls

N • levels of adrenaline and noradrenaline in the adrenal glands is similar to controls

homeostasis/metabolism

increased circulating glucocorticoid level ( J:57315 )

• morning levels of circulating glucocorticoids are elevated

• normal circadian rhythm is maintained

decreased circulating adrenocorticotropin level ( J:57315 )

• plasma levels of ACTH are moderately reduced

increased adrenocorticotropin level ( J:57315 )

• in the anterior pituitary, an increase in the level of ACTH and its transcript levels are seen

nervous system

hypersecretion of corticotropin-releasing hormone ( J:57315 )

• elevation of CRH peptide levels in the paraventricular nucleus of the hypothalamus (PVN)

• no change in the level of vasopression (AVP)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary hyperaldosteronism		DOID:446	OMIM:605635 OMIM:613677	J:57315

Genotype
MGI:7424798

cn84

• Allelic Composition: Morc2a^tm1.1Pngr/Morc2a^tm1.1Pngr; Mphosph8^{tm1c(EUCOMM)Wtsi}/Mphosph8^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N * SJL

mortality/aging

premature death ( J:332344 )

• more so than in either single conditional knock-out mouse

nervous system

increased brain size ( J:332344 )

• increased brain to body ratio

abnormal corpora quadrigemina morphology ( J:332344 )

• exposed colliculi

craniofacial

domed cranium ( J:332344 )

growth/size/body

decreased body weight ( J:332344 )

skeleton

domed cranium ( J:332344 )

Genotype
MGI:5504405

cn85

• Allelic Composition: Map2k1^tm1Bacc/Map2k1^tm1.1Bacc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

growth/size/body

postnatal growth retardation ( J:199705 )

• slight after P20

nervous system

nervous system phenotype ( J:199705 )

N • mice exhibit normal gross brain, central and peripheral nervous system anatomy

Genotype
MGI:5816716

cn86

• Allelic Composition: Adk^tm2Bois/Adk^tm2Bois; Adora1^tm1Bbf/Adora1^tm1Bbf; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

behavior/neurological

environmentally induced seizures ( J:237189 )

♂ • mice exhibit increased susceptibility to stress-induced (placement in novel environment) seizures

mortality/aging

premature death ( J:237189 )

♂ • increase in mortality

nervous system

environmentally induced seizures ( J:237189 )

♂ • mice exhibit increased susceptibility to stress-induced (placement in novel environment) seizures

Genotype
MGI:4867644

cn87

• Allelic Composition: Fbxw7^tm1.1Axbe/Fbxw7^tm1.1Axbe; Jun^tm4Wag/Jun⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

abnormal neuron apoptosis ( J:166928 )

• neurosphere apoptosis is decreased compared to in Fbxw7^tm1Axbe/Fbxw7^tm1Axbe Tg(Nes-cre)1Kln mice

abnormal tectum morphology ( J:166928 )

• the cellularity defect in the mantle layer of the midbrain tectum observed in Fbxw7^tm1Axbe/Fbxw7^tm1Axbe Tg(Nes-cre)1Kln mice is rescued

• the number of stem cells in the tectal ventricular zone is increased compared to in wild-type mice

cellular

abnormal neuron apoptosis ( J:166928 )

• neurosphere apoptosis is decreased compared to in Fbxw7^tm1Axbe/Fbxw7^tm1Axbe Tg(Nes-cre)1Kln mice

Genotype
MGI:7424788

cn88

• Allelic Composition: Morc2a^tm1.1Pngr/Morc2a^tm1.1Pngr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

premature death ( J:332344 )

nervous system

increased brain size ( J:332344 )

increased midbrain size ( J:332344 )

• dorsoventral and mediolateral expansion, predominantly of the collicular (tectal) and tegmental regions of the midbrain

abnormal corpora quadrigemina morphology ( J:332344 )

• exposed colliculi

abnormal neuron physiology ( J:332344 )

• increased neuronal activation throughout the cortex and reduced activation in the posterior brain

behavior/neurological

behavior/neurological phenotype ( J:332344 )

N • mice exhibit normal performance in a Y-maze, elevated plus maze, and Morris water maze

enhanced contextual conditioning behavior ( J:332344 )

• improved hippocampal-dependent fear-context memory

impaired coordination ( J:332344 )

• reduced motor performance and impaired motor function on a rotarod

• however, mice do not exhibit ataxia and have normal gaits

decreased grip strength ( J:332344 )

decreased locomotor activity ( J:332344 )

• in PhenoMaster cages and open field tests

craniofacial

domed cranium ( J:332344 )

• varying degrees of cranial alterations from normal to moderately domed

growth/size/body

decreased body size ( J:332344 )

decreased body weight ( J:332344 )

skeleton

domed cranium ( J:332344 )

• varying degrees of cranial alterations from normal to moderately domed

Genotype
MGI:3778635

cn89

• Allelic Composition: Txnrd2^tm1Marc/Txnrd2^tm1Marc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:133173 )

N • mice exhibit normal brain morphology

normal phenotype

no abnormal phenotype detected ( J:133173 )

• mice do not display any overt phenotype

Genotype
MGI:3778634

cn90

• Allelic Composition: Txnrd1^tm1Marc/Txnrd1^tm1Marc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:133173 )

N • most regions of the brain including the olfactory bulb, subventricular zone and cerebral cortex are morphologically normal

abnormal cerebellum morphology ( J:133173 )

abnormal cerebellum development ( J:133173 )

• fissure formation in the anterior cerebellum is reduced

abnormal cerebellar lobule formation ( J:133173 )

• only lobules VII to X form, while lobules I to VI are fused and unlaminated

thin external granule cell layer ( J:133173 )

• from P1

abnormal cerebellar cortex morphology ( J:133173 )

• there is no distinction between the molecular, Purkinje cell and granular layers in the anterior portions of the cerebellar cortex

• however, lamination of the posterior cerebellar cortex is normal

abnormal Purkinje cell dendrite morphology ( J:133173 )

• the dendritic trees of Purkinje cells, in the anterior more so than the posterior cerebellum, are less elaborate than in wild-type mice

ectopic Purkinje cell ( J:133173 )

cerebellum hypoplasia ( J:133173 )

• at weaning the cerebellum is one fourth of wild-type in size

• cell proliferation is 3 times lower than normal at P7 and 2 times lower than normal at P14

• cell density in the granular layer in the anterior end is reduced the posterior lobules are smaller

• however, apoptotic rates are normal

abnormal glial cell morphology ( J:133173 )

• glial cells in the anterior cerebellum are disoriented

abnormal astrocyte morphology ( J:133173 )

• Bergmann glial fibers in the anterior cerebellum are shorter, disoriented and reduced in density compared to in wild-type mice

behavior/neurological

tremors ( J:133173 )

• at P7

ataxia ( J:133173 )

• at P7, mice exhibit an ataxic gait

impaired balance ( J:133173 )

• at P7

impaired coordination ( J:133173 )

• 11 of 14 times mice fail to climb down a pole in a modified pole test unlike wild-type mice

abnormal gait ( J:133173 )

• at P7, mice exhibit an ataxic gait

growth/size/body

decreased body size ( J:133173 )

• although of normal size at birth, within a few days mice are smaller than wild-type mice

slow postnatal weight gain ( J:133173 )

• by 4 weeks of age mice have only reached half the weight of wild-type mice

• mice only grow to adulthood when provided food pellets at the bottom of the cage

reproductive system

reproductive system phenotype ( J:133173 )

N • mice are fertile and able to nurse

Genotype
MGI:3604768

cn91

• Allelic Composition: Ugcg^tm1Hjg/Ugcg^tm1.1Hjg; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:101155 )

• all mutants die by 24 days of age with a median age of lethality of 18 days

homeostasis/metabolism

abnormal lipid homeostasis ( J:101155 )

• ceramide concentration in the brain is decreased about 1.7-fold at P0 and P15, but sphingomyelin levels are consistently increased after birth

behavior/neurological

impaired righting response ( J:101155 )

• when placed on their ridge mutants take about 6 seconds to roll over compared to less than 0.5 seconds for control littermates

limb grasping ( J:101155 )

ataxia ( J:101155 )

• mutants develop severe ataxia with a shuffling gait and strong equilibrium impairments

impaired balance ( J:101155 )

• mutants are unable to balance on a rotating rod

abnormal gait ( J:101155 )

• shuffling gait

nervous system

abnormal Purkinje cell morphology ( J:101155 )

• the dendritic tree shows decreased height and arborization in mutant cerebella

• in culture neurite length and the number of branching points are decreased for Purkinje cells from E15.5 mutant embryos

abnormal axon morphology ( J:101155 )

• surface area of the axon of the femoral nerve is increased

abnormal myelination ( J:101155 )

• myelin surface area of the femoral nerve is increased and in some mutants splitting of the myelin sheath is seen

growth/size/body

decreased body weight ( J:101155 )

• body weight is similar to control littermates at birth, but after birth mutants gain less weight than their control littermates

Genotype
MGI:5285658

cn92

• Allelic Composition: Met^tm1Ics/Met^tm1Sst; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

decreased motor neuron number ( J:174591 )

• by P2 with no further reduction in adult mice

• lacZ+ motor neurons are reduced at P2 in C8 and T1 regions of the spinal cord

Genotype
MGI:6119481

cn93

• Allelic Composition: Tubb5^tm2.1Dak/Tubb5⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

increased neuron apoptosis ( J:240157 )

• at E14.5

decreased brain size ( J:240157 )

• with reduced cortex volume

decreased corpus callosum size ( J:240157 )

• reduced volume

abnormal putamen morphology ( J:240157 )

• reduced volume

small thalamus ( J:240157 )

• reduced volume

small hippocampus ( J:240157 )

• reduced volume

thin cerebral cortex ( J:240157 )

• at P0 and severely reduced in adulthood

• however, cortex thickness is normal at E12.5, E14.5 and E16.

small olfactory bulb ( J:240157 )

• reduced volume

abnormal cerebellar layer morphology ( J:240157 )

• loss of upper neuronal layer

• however, cortical architecture is preserved

small cerebellum ( J:240157 )

• reduced volume

cellular

increased neuron apoptosis ( J:240157 )

• at E14.5

growth/size/body

microcephaly ( J:240157 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microcephaly		DOID:10907		J:240157

Genotype
MGI:6501209

cn94

• Allelic Composition: Atrip^tm1.1Pof/Atrip^tm1.1Pof; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

decreased dorsal striatum total cell area ( J:299031 )

hippocampus hypoplasia ( J:299031 )

• severe developmental growth impairment at age P7

decreased cerebral cortex total cell area ( J:299031 )

• severe developmental growth impairment at age P7

cerebellum hypoplasia ( J:299031 )

• severe developmental growth impairment at age P7

vision/eye

increased lens epithelium apoptosis ( J:299031 )

• in E17.5 embryos

• dysregulated DNA damage response (DDR)

abnormal lens epithelium morphology ( J:299031 )

• abnormal organization of transition zone at age P7

abnormal lens fiber morphology ( J:299031 )

• lack of organelle-free zone (OFZ) in fiber cells at age P7

microphthalmia ( J:299031 )

• ~50% reduction in eye volume at age P7

mortality/aging

mortality/aging ( J:299031 )

N • viable; mice born at expected Mendelian ratio

preweaning lethality, complete penetrance ( J:299031 )

• mice die around age P9

cellular

abnormal cell physiology ( J:299031 )

• dysregulated DNA damage response (DDR)

• normal cell cycle and proportion of mitotic cells of lens progenitor cells in E17.5 embryos

abnormal mitosis ( J:299031 )

• increased number of mitotic defects in lens progenitor cells in E15.5 embryos

increased lens epithelium apoptosis ( J:299031 )

• in E17.5 embryos

• dysregulated DNA damage response (DDR)

growth/size/body

decreased birth weight ( J:299031 )

• lower body mass at birth

decreased body weight ( J:299031 )

• at age P13

microcephaly ( J:299031 )

Genotype
MGI:5317173

cn95

• Allelic Composition: Gjc1^{tm1.1(Gjd2)Kwi}/Gjc1^{tm1.1(Gjd2)Kwi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

vision/eye

vision/eye phenotype ( J:182927 )

N • mice exhibit normal functional neurotransmitter coupling in the retina

N • mice exhibit normal electroretinograms

nervous system

nervous system phenotype ( J:182927 )

N • mice exhibit normal functional neurotransmitter coupling in the retina

Genotype
MGI:5294554

cn96

• Allelic Composition: Jun^tm4Wag/Jun^tm4Wag; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:176956 )

N • cultured neurons exhibit normal degeneration induced by NGF withdrawal

decreased neuron apoptosis ( J:176956 )

• in culture following NGF withdrawal

cellular

decreased neuron apoptosis ( J:176956 )

• in culture following NGF withdrawal

Genotype
MGI:6501211

cn97

• Allelic Composition: Atrip^tm1.1Pof/Atrip^tm1.1Pof; Tg(Nes-cre)1Kln/0; Trp53^tm1Brn/Trp53^tm1Brn
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

vision/eye

microphthalmia ( J:299031 )

• ~50% reduction in eye volume at age P7

growth/size/body

decreased body weight ( J:299031 )

• at age P13

microcephaly ( J:299031 )

• at age P13

cellular

abnormal cell physiology ( J:299031 )

• dysregulated DNA damage response (DDR) of lens progenitor cells in E15.5 embryos

• normal cell cycle and proportion of mitotic cells of lens progenitor cells in E15.5 embryos

• no lens epithelium apoptosis in E15.5 embryos

abnormal mitosis ( J:299031 )

• increased number of mitotic defects in lens progenitor cells in E15.5 embryos

Genotype
MGI:4819847

cn98

• Allelic Composition: Nf2^tm2Gth/Nf2^tm2Gth; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

vision/eye

abnormal lens morphology ( J:162628 )

• ectopic cells accumulate in the equator and posterior of the lens unlike in wild-type mice

abnormal lens epithelium morphology ( J:162628 )

• in the anterior region

cataract ( J:162628 )

Genotype
MGI:3713536

cn99

• Allelic Composition: Braf^tm1Wds/Braf^tm1Wds; Raf1^tm2Bacc/Raf1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:121660 )

• most die before weaning

growth/size/body

postnatal growth retardation ( J:121660 )

• mice are smaller in the postnatal period than Braf conditional knockouts

nervous system

abnormal innervation ( J:121660 )

• deficiency of terminal axonal projections of parvalbumin-positive neurons toward the lateral motor pools of the spinal cord is seen compared to controls

abnormal sensory neuron innervation pattern ( J:121660 )

• proprioceptive axons enter spinal cord normally, but few progress beyond intermediate zone

abnormal dorsal root ganglion morphology ( J:121660 )

• at P12, number of Ret+ neurons in DRG is reduced; numbers of CGRG+ neurons are increased

Genotype
MGI:6119482

cn100

• Allelic Composition: Trp53^tm1Brn/Trp53^tm1Brn; Tubb5^tm2.1Dak/Tubb5⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:240157 )

N • neuronal apoptosis observed in Tubb5^tm2.1Dak / Tubb5⁺ Tg(Nes-cre)1Kln mice is rescued

Genotype
MGI:3770261

cn101

• Allelic Composition: Dbx1^tm1(DTA)Apie/Dbx1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

abnormal cerebral cortex morphology ( J:101434 )

• differences in cortical cytoarchitecture were observed in both rostral and caudal level

• the mutant cortex did not show a typical Reeler phenotype

abnormal olfactory cortex morphology ( J:101434 )

• strong decrease to a complete loss of Reelin expressing cells in the rostrocaudal axis of the telencephalic vesicles and of the olfactory bulb at E11.5 and E12.5

• no significant differences in Reelin expression in cortex of the wild-type and mutant at E14.5

Genotype
MGI:6119483

cn102

• Allelic Composition: Tubb5^tm2.1Dak/Tubb5^tm2.1Dak; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:240157 )

prenatal lethality, incomplete penetrance ( J:240157 )

nervous system

nervous system phenotype ( J:240157 )

N

cellular

abnormal mitosis ( J:240157 )

Genotype
MGI:3624719

cn103

• Allelic Composition: Mecp2^tm1Bird/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

premature death ( J:67910 )

♂

behavior/neurological

limb grasping ( J:67910 )

♂

abnormal gait ( J:67910 )

♂ • develop a stiff, uncoordinated gait

decreased locomotor activity ( J:67910 )

♂

craniofacial

abnormal tooth morphology ( J:67910 )

♂ • frequently exhibit uneven wearing of the teeth

endocrine/exocrine glands

cryptorchism ( J:67910 )

♂

growth/size/body

abnormal tooth morphology ( J:67910 )

♂ • frequently exhibit uneven wearing of the teeth

decreased body weight ( J:67910 )

♂

reproductive system

cryptorchism ( J:67910 )

♂

skeleton

abnormal tooth morphology ( J:67910 )

♂ • frequently exhibit uneven wearing of the teeth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Rett syndrome		DOID:1206	OMIM:312750 OMIM:613454	J:67910

Genotype
MGI:3713540

cn104

• Allelic Composition: Braf^tm1Wds/Braf⁺; Raf1^tm2Bacc/Raf1^tm2Bacc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:121660 )

• mice show no phenotypic abnormalities at any stage

Genotype
MGI:6280694

cn105

• Allelic Composition: Parl^tm1Bdes/Parl^tm1Bdes; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

premature death ( J:269785 )

• similar to in knock-out mice with a 4 week delay

reproductive system

reproductive system phenotype ( J:269785 )

N • mice exhibit normal testis unlike in Parl^tm1.1Bdes homozygotes

nervous system

neurodegeneration ( J:269785 )

• Leigh-like neuropathy as in knock-out mice

• however, apoptosis rates are normal

immune system

abnormal thymus apoptosis ( J:269785 )

• increased

thymus atrophy ( J:269785 )

• in preterminal mice

spleen atrophy ( J:269785 )

• in preterminal mice

cellular

abnormal mitochondrial morphology ( J:269785 )

• as the neurons of Parl^tm1.1Bdes homozygotes

abnormal thymus apoptosis ( J:269785 )

• increased

liver/biliary system

liver degeneration ( J:269785 )

endocrine/exocrine glands

abnormal thymus apoptosis ( J:269785 )

• increased

thymus atrophy ( J:269785 )

• in preterminal mice

hematopoietic system

abnormal thymus apoptosis ( J:269785 )

• increased

thymus atrophy ( J:269785 )

• in preterminal mice

spleen atrophy ( J:269785 )

• in preterminal mice

muscle

muscular atrophy ( J:269785 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leigh disease		DOID:3652	OMIM:256000	J:269785

Genotype
MGI:7703099

cn106

• Allelic Composition: Met^tm1Sst/Met^tm1Sst; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

abnormal cerebral cortex morphology ( J:351261 )

• increased FOS+ infragranular neurons in the medial prefrontal cortex of male and female mice at P90 compared with controls

• however, FOS+ cells are normal in number at P35 during fear memory expression

behavior/neurological

impaired contextual conditioning behavior ( J:351261 )

♀ • at P90 in female mice

♀ • however, female and male mice exhibit normal contextual fear memory formation and persistence at P23 as well as contextual remote fear memory at P35 and 50

Genotype
MGI:3698831

cn107

• Allelic Composition: Ddb1^tm1Spg/Ddb1^tm1Spg; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:117820 )

• newborn mice die within 24 hours

nervous system

abnormal cerebellum external granule cell layer morphology ( J:117820 )

• EGL of cerebellum (proliferative zone) is almost absent in mutants

decreased brain size ( J:117820 )

• overall size of mutant brains is decreased at birth compared to wild-type

abnormal fourth ventricle morphology ( J:117820 )

• the fourth (IV) ventricle is open to the brain surface and filled with blood

abnormal lateral ventricle morphology ( J:117820 )

• nearly complete loss of cells in the ventricular (VZ) and subventricular zones (SVZ) of lateral ventricles

enlarged lateral ventricles ( J:117820 )

• lateral ventricles are dramatically enlarged

abnormal cerebral aqueduct morphology ( J:117820 )

• the aqueduct of Sylvius is open to the brain surface and filled with blood

abnormal cerebral cortex morphology ( J:117820 )

• remaining laminated layers show reduced cellularity and numerous red blood cells

thin cerebral cortex ( J:117820 )

• cortex is much thinner at E16.5 from excess cell death

abnormal olfactory bulb morphology ( J:117820 )

• VZ and SVZ of olfactory bulb are missing

small cerebellum ( J:117820 )

• much smaller than controls

abnormal nervous system physiology ( J:117820 )

• most dorsolateral cortical regions lack any vasculature; remaining vessels are dilated compared to control

• many blood vessels in cerebellum are dilated, but severe hemorrhage is only detected in rostrolateral tip

intracranial hemorrhage ( J:117820 )

• bleeding is restricted to the forebrain mainly

cerebellum hemorrhage ( J:117820 )

• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum

intracerebral hemorrhage ( J:117820 )

• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum

abnormal neuron apoptosis ( J:117820 )

• at E14.5, neuroprogenitor cells (NPC) show massive apoptotic death in SVZ and VZ, including pyknotic cells in ganglionic eminence; peak is at E15.5

• at E16.5, cavitations result from hypocellularity in VZ and SVZ

vision/eye

increased lens epithelium apoptosis ( J:117820 )

• at E15.5, many progenitor epithelial cells are apoptotic

• at E16.5. fewer epithelial cells are present in central pool or equatorial region, with pyknotic nuclei found in whole epithelium layer

abnormal lens morphology ( J:117820 )

• lenses are severely degenerated in newborn mutants

• lens has fewer cells; cells are abnormally shaped and disorganized

cataract ( J:117820 )

• lens is much less transparent than in controls

cardiovascular system

abnormal blood vessel morphology ( J:117820 )

• cerebrovascular vessels are abnormally dilated and many rupture

• in newborn brains, there are ~12-fold fewer vessels compared to controls

intracranial hemorrhage ( J:117820 )

• bleeding is restricted to the forebrain mainly

cerebellum hemorrhage ( J:117820 )

• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum

intracerebral hemorrhage ( J:117820 )

• newborn mutants all exhibit severe hemorrhage within cerebral hemispheres and cerebellum

cellular

increased lens epithelium apoptosis ( J:117820 )

• at E15.5, many progenitor epithelial cells are apoptotic

• at E16.5. fewer epithelial cells are present in central pool or equatorial region, with pyknotic nuclei found in whole epithelium layer

abnormal neuron apoptosis ( J:117820 )

• at E14.5, neuroprogenitor cells (NPC) show massive apoptotic death in SVZ and VZ, including pyknotic cells in ganglionic eminence; peak is at E15.5

• at E16.5, cavitations result from hypocellularity in VZ and SVZ

Genotype
MGI:3713535

cn108

• Allelic Composition: Braf^tm1Wds/Braf^tm1.1Wds; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

lethality at weaning, incomplete penetrance ( J:121660 )

• mice tend to die in third week postnatal, although some survive to P35

growth/size/body

decreased body weight ( J:121660 )

• at P32, body weight is ~25% of littermates

postnatal growth retardation ( J:121660 )

• from P12-14 onwards, mice show severe growth retardation

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:121660 )

• perivascular hypothalamic axonal innervation to anterior lobe is reduced

small adenohypophysis ( J:121660 )

• anterior lobe of pituitary gland is markedly reduced in size compared to controls

behavior/neurological

behavior/neurological phenotype ( J:121660 )

N • mice show normal nociceptive response in hotplate assay

hyperactivity ( J:121660 )

• mice appear hyperactive

nervous system

nervous system phenotype ( J:121660 )

N • dorsal root ganglion neurons survive in mutants; lumbar-vertebral neuron counts at L4 and L5 are similar to wild-type

abnormal adenohypophysis morphology ( J:121660 )

• perivascular hypothalamic axonal innervation to anterior lobe is reduced

small adenohypophysis ( J:121660 )

• anterior lobe of pituitary gland is markedly reduced in size compared to controls

thin cerebral cortex ( J:121660 )

• disproportionate thinning of cortex is observed

homeostasis/metabolism

hypoglycemia ( J:121660 )

• mice display hypoglycemia with blood glucose levels ~70% below normal

abnormal body temperature homeostasis ( J:121660 )

• when separated from other mice, body temperature drops 5 degrees within 15 minutes

abnormal growth hormone level ( J:121660 )

• level is elevated in pituitary relative to controls

• level of growth hormone is elevated in individual pituitary endocrine cells

Genotype
MGI:3835561

cn109

• Allelic Composition: Nrg1^tm1Fej/Nrg1^tm1Fej; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:145464 )

N • brain morphology normal at birth

abnormal Schwann cell morphology ( J:145464 )

• spinal cord ventral root Schwann cell development is blocked

Genotype
MGI:3713653

cn110

• Allelic Composition: Braf^tm1Sva/Braf⁺; Raf1^tm2Bacc/Raf1^tm2Bacc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:121660 )

• mice show no phenotypic abnormalities at any stage

Genotype
MGI:3831339

cn111

• Allelic Composition: Brca2^tm1Brn/Brca2^tm1Brn; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:144617 )

N • compared to germ line deletions of this gene, mice exhibit no increase in apoptosis during neural development

Genotype
MGI:6119480

cn112

• Allelic Composition: Tubb5^tm1.1Dak/Tubb5^tm1.1Dak; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

increased neuron apoptosis ( J:240157 )

• at E14.5

decreased brain size ( J:240157 )

• with reduced cortex volume

decreased corpus callosum size ( J:240157 )

• reduced volume

abnormal putamen morphology ( J:240157 )

• reduced volume

small thalamus ( J:240157 )

• reduced volume

small hippocampus ( J:240157 )

• reduced volume

thin cerebral cortex ( J:240157 )

• at P0 and severely reduced in adulthood

• however, cortex thickness is normal at E12.5, E14.5 and E16.5

small olfactory bulb ( J:240157 )

• reduced volume

abnormal cerebellar layer morphology ( J:240157 )

• loss of upper neuronal layer

• however, cortical architecture is preserved

small cerebellum ( J:240157 )

• reduced volume

abnormal neuron morphology ( J:240157 )

• ectopic neuronal progenitors with an increased percentage of vertically oriented spindles at E14.5

cellular

abnormal mitosis ( J:240157 )

• prolonged M phase in neuronal progenitors at E14.5 with abnormal chromosome elements

abnormal mitotic spindle morphology ( J:240157 )

• increased percentage of vertically oriented spindles in neuronal progenitors at E14.5

increased neuron apoptosis ( J:240157 )

• at E14.5

growth/size/body

microcephaly ( J:240157 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microcephaly		DOID:10907		J:240157

Genotype
MGI:6157968

cn113

• Allelic Composition: Tcf4^tm1Hmb/Tcf4⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:254983 )

microcephaly ( J:254983 )

nervous system

abnormal brain morphology ( J:254983 )

• reduction in brain volume

decreased brain weight ( J:254983 )

enhanced long-term potentiation ( J:254983 )

• mice exhibit enhanced long term potentiation (LTP) after 3 1 second bursts of 100 Hz stimulation and LTP is consistently enhanced over a range of stimulation frequencies

• however, no differences in long term depression (LTD) after 15 min of 1 Hz stimulation are seen, presynaptic function and AMPA receptor-mediated synaptic transmission appear normal in hippocampal area CA1, and short-term plasticity in terms of the paired-pulse ratio appears normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Pitt-Hopkins syndrome		DOID:0060488	OMIM:610954	J:254983

Genotype
MGI:3852117

cn114

• Allelic Composition: Nr3c1^tm2Gsc/Nr3c1^tm2Gsc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

abnormal nervous system electrophysiology ( J:150544 )

• spontaneous firing rate of dopamine neurons is highly reduced in ventral tegmental area (VTA)

Genotype
MGI:6119479

cn115

• Allelic Composition: Tubb5^tm1.1Dak/Tubb5⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:240157 )

N • mice exhibit normal brain size

Genotype
MGI:4838242

cn116

• Allelic Composition: Adam10^tm2Psa/Adam10^tm2Psa; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

perinatal lethality, incomplete penetrance ( J:159624 )

• only small number of mutant mice survived more than 12 h after birth

cardiovascular system

intracranial hemorrhage ( J:159624 )

• seen in dying embryos

• macroscopically mutant embryos did not display gross abnormalities

nervous system

intracranial hemorrhage ( J:159624 )

• seen in dying embryos

• macroscopically mutant embryos did not display gross abnormalities

abnormal embryonic neuroepithelial layer differentiation ( J:159624 )

• a premature differentiation of neural progenitor cells into postmitotic neuron

abnormal embryonic/fetal subventricular zone morphology ( J:159624 )

• reduction of the ganglionic eminence and disrupted organization of the cortical region in E15.5 and later embryos

embryo

abnormal embryonic neuroepithelial layer differentiation ( J:159624 )

• a premature differentiation of neural progenitor cells into postmitotic neuron

Genotype
MGI:5588820

cn117

• Allelic Composition: Tshz1^tm1Garr/Tshz1^tm2.1Garr; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S1/Sv * 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

preweaning lethality, incomplete penetrance ( J:209428 )

• approx. 70% died during the first four postnatal weeks

• mutant mice could suckle and survive during the early postnatal period

growth/size/body

postnatal growth retardation ( J:209428 )

• mutants weighed around half that of their littermates

nervous system

abnormal olfactory bulb development ( J:209428 )

• a substantial reduction in the number of GABAergic cells

abnormal rostral migratory stream morphology ( J:209428 )

abnormal olfactory bulb periglomerular cell morphology ( J:209428 )

abnormal olfactory bulb granule cell layer morphology ( J:209428 )

small olfactory bulb ( J:209428 )

behavior/neurological

abnormal olfactory discrimination memory ( J:209428 )

Genotype
MGI:3831348

cn118

• Allelic Composition: Lig4^tm1Pmc/Lig4^tm1Pmc; Trp53^tm1Tyj/Trp53^tm1Tyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

mortality/aging

premature death ( J:144617 )

• mice die by 32 weeks unlike Lig4^tm1Pmc/Lig4^tm1Pmc Tg(Nes-cre)1Kln mice with wild-type Trp53

neoplasm

increased medulloblastoma incidence ( J:144617 )

• 94% of mice develop medulloblastoma beginning at 16 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 94% of mice develop medulloblastoma beginning at 16 weeks

Genotype
MGI:3831338

cn119

• Allelic Composition: Trp53^tm1Tyj/Trp53^tm1Tyj; Xrcc2^tm2Pmc/Xrcc2^tm2Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

mortality/aging

premature death ( J:144617 )

• mice die by 28 weeks unlike Xrcc2^tm2Pmc/Xrcc2^tm2Pmc Tg(Nes-cre)1Kln mice with wild-type Trp53

neoplasm

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 16 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 16 weeks

Genotype
MGI:4359665

cn120

• Allelic Composition: Xrcc1^tm1Pmc/Xrcc1^tm1Pmc; Trp53^tm1Tyj/Trp53⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

mortality/aging

premature death ( J:152528 )

• mice die by 6 months of age

neoplasm

increased medulloblastoma incidence ( J:152528 )

• in 13% of mice

nervous system

increased medulloblastoma incidence ( J:152528 )

• in 13% of mice

Genotype
MGI:3831355

cn121

• Allelic Composition: Lig4^tm1Pmc/Lig4^tm1Pmc; Trp53^tm1Tyj/Trp53⁺; Xrcc2^tm2Pmc/Xrcc2^tm2Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

mortality/aging

premature death ( J:144617 )

• mice die by 32 weeks

neoplasm

abnormal tumor morphology ( J:144617 )

• tumors exhibit a loss of heterozygosity at the Trp53 gene

increased medulloblastoma incidence ( J:144617 )

• 75% of mice develop medulloblastoma beginning at 23 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 75% of mice develop medulloblastoma beginning at 23 weeks

Genotype
MGI:3831351

cn122

• Allelic Composition: Lig4^tm1Pmc/Lig4^tm1Pmc; Trp53^tm1Tyj/Trp53^tm1Tyj; Xrcc2^tm2Pmc/Xrcc2^tm2Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

mortality/aging

premature death ( J:144617 )

• mice die by 16 weeks

neoplasm

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 14 weeks

nervous system

increased medulloblastoma incidence ( J:144617 )

• 100% of mice develop medulloblastoma beginning at 14 weeks

Genotype
MGI:4359666

cn123

• Allelic Composition: Xrcc1^tm1Pmc/Xrcc1^tm1Pmc; Trp53^tm1Tyj/Trp53^tm1Tyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL

mortality/aging

premature death ( J:152528 )

• mice die by 4 months of age

nervous system

nervous system phenotype ( J:152528 )

N • loss of interneurons in the molecular layer of the cerebellum observed in Xrcc1^tm1.1Pmc/Xrcc1^tm1.1Pmc Tg(Nes-cre)1Kln is rescued with normal distribution of basket and stellate cells

abnormal neuron differentiation ( J:152528 )

• Golgi cells are only partially rescued compared to in Xrcc1^tm1.1Pmc/Xrcc1^tm1.1Pmc Tg(Nes-cre)1Kln

increased medulloblastoma incidence ( J:152528 )

neoplasm

increased medulloblastoma incidence ( J:152528 )

cellular

abnormal neuron differentiation ( J:152528 )

• Golgi cells are only partially rescued compared to in Xrcc1^tm1.1Pmc/Xrcc1^tm1.1Pmc Tg(Nes-cre)1Kln

Genotype
MGI:4831154

cn124

• Allelic Composition: Actb^tm1(INSR)Dac/Actb^tm1(INSR)Dac; Insr^tm1Dac/Insr^tm1Dac; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

premature death ( J:91350 )

• die between 6 and 8 weeks

homeostasis/metabolism

increased circulating glucose level ( J:91350 )

• diabetic in one week

increased circulating insulin level ( J:91350 )

• extremely elevated

Genotype
MGI:6710964

cn125

• Allelic Composition: Gt(ROSA)26Sor^{em1(Tor1b)Wtd}/Gt(ROSA)26Sor⁺; Tor1a^tm2Wtd/Tor1a^tm3.1Wtd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

behavior/neurological

behavior/neurological phenotype ( J:288753 )

N • mice show almost complete rescue of the abnormal postural (squinty eyes and twisted hindpaws) and development phenotypes seen in Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0 mice

growth/size/body

growth/size/body region phenotype ( J:288753 )

N • mice exhibit partial rescue of the postnatal growth retardation seen in Tor1a^tm2Wtd/Tor1a^tm3.1Wtd Tg(Nes-cre)1Kln/0 mice from P8 to P28 and are fully restored to normal weight by P56

nervous system

nervous system phenotype ( J:288753 )

N • mice do not exhibit neurodegeneration or gliosis

Genotype
MGI:5605976

cn126

• Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm3.1Wtd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

behavior/neurological

abnormal involuntary movement ( J:213785 )

limb grasping ( J:213785 )

• forelimb clasping

• action-induced forepaw clenching during tail suspension

dystonia ( J:213785 )

• mice develop spontaneous abnormal movements by second postnatal week

• unilateral twisted hind paw

• bilateral twisted hind paws

• prolonged stiff extension of hind limbs

• abnormal toe postures

• tail extension

tremors ( J:213785 )

impaired coordination ( J:213785 )

• mice exhibit an increase in the number of footslip/cross in beam crossing

abnormal limb posture ( J:288753 )

• 4 of 7 mice show twisted hindpaws at P15

growth/size/body

decreased body size ( J:213785 )

• mice are significantly smaller than littermate controls

postnatal growth retardation ( J:288753 )

• reduced postnatal growth

muscle

dystonia ( J:213785 )

• mice develop spontaneous abnormal movements by second postnatal week

• unilateral twisted hind paw

• bilateral twisted hind paws

• prolonged stiff extension of hind limbs

• abnormal toe postures

• tail extension

nervous system

absent red nucleus ( J:213785 )

• loss of red nucleus by P56

gliosis ( J:213785 , J:288753 )

• minimal gliosis is observed in spinal cord (J:213785)

• reactive gliosis is observed at P56 in deep layers of the sensorimotor cortex, ventral posterior thalamus, globus pallidus, deep cerebellar nuclei, red nucleus and facial nerve nuclei and is less severe than gliosis found in null mice (J:213785)

• reactive gliosis in the cortex and thalamus (J:288753)

neurodegeneration ( J:213785 )

• abnormal accumulation of perinuclear ubiquitin

neuron degeneration ( J:288753 )

• striatal cholinergic interneuron degeneration

vision/eye

narrow eye opening ( J:213785 )

• squinty eyes

Genotype
MGI:5605973

cn127

• Allelic Composition: Tor1a^tm1Wtd/Tor1a^tm3.1Wtd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

behavior/neurological

dystonia ( J:213785 , J:288753 )

• mice exhibit prolonged abnormal twisting movements (J:213785)

• hindpaw twisting (J:213785)

• mice exhibit overtly twisting movements (J:288753)

impaired coordination ( J:213785 )

• increase in the number of footslip/cross in beam walking test

abnormal posture ( J:288753 )

• stiff postures

growth/size/body

decreased body weight ( J:288753 )

weight loss ( J:213785 )

• progressive weight loss

postnatal growth retardation ( J:288753 )

• lack of postnatal weight gain

mortality/aging

postnatal lethality, complete penetrance ( J:213785 , J:288753 )

• mice die by P16 (J:213785)

• early lethality, with 100% lethality by P15 (J:288753)

muscle

dystonia ( J:213785 , J:288753 )

• mice exhibit prolonged abnormal twisting movements (J:213785)

• hindpaw twisting (J:213785)

• mice exhibit overtly twisting movements (J:288753)

nervous system

decreased brain size ( J:288753 )

enlarged lateral ventricles ( J:288753 )

abnormal red nucleus morphology ( J:213785 )

gliosis ( J:213785 , J:288753 )

• reactive gliosis is observed at P10 in deep layers of the sensorimotor cortex, ventral posterior thalamus, globus pallidus, deep cerebellar nuclei, red nucleus and facial nerve nuclei (J:213785)

• gliosis in multiple sensorimotor brain regions, including the cerebral cortex, thalamus, brainstem, and deep cerebellar nuclei (J:288753)

decreased neuron number ( J:213785 )

• near absence of large neuronal perikarya in red nucleus and facial nerve nuclei (7N) observed at P10

abnormal facial nerve morphology ( J:213785 )

neurodegeneration ( J:213785 )

• abnormal accumulation of perinuclear ubiquitin is found in the thalamus and to a lessor degree in the hippocampus

• increased ER stress and activated caspase 3 (observed by immunostaining) are observed in sensorimotor regions as compared to controls

vision/eye

narrow eye opening ( J:213785 )

• squinty eyes

Genotype
MGI:6710962

cn128

• Allelic Composition: Gt(ROSA)26Sor^{em1(Tor1b)Wtd}/Gt(ROSA)26Sor⁺; Tor1a^tm1Wtd/Tor1a^tm3.1Wtd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

normal phenotype

no abnormal phenotype detected ( J:288753 )

• mice do not exhibit lethality, growth defects, or abnormal twisting movements or stiff postures, and exhibit normal brain with no gliosis

Genotype
MGI:4422199

cn129

• Allelic Composition: Vegfa^tm2Gne/Vegfa⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL

vision/eye

abnormal retina morphology ( J:86207 )

• retinas that lack a proper outer vascular plexus are also thin compared to in wild-type mice

abnormal retina vasculature morphology ( J:86207 )

• at P21, retinas lack a proper outer vascular plexus unlike in wild-type mice

abnormal retina outer nuclear layer morphology ( J:86207 )

• between P5 and 3 weeks of age, mice lack clear development of the outer retinal layer compared to in wild-type mice

abnormal retina outer plexiform layer morphology ( J:86207 )

• at P21, mice lack clear development of the outer plexiform layer unlike in wild-type mice

retina degeneration ( J:86207 )

retina gliosis ( J:86207 )

• at P7, some retinas exhibit an increase in microglia/macrophage numbers near the developing veins compared to in wild-type mice

nervous system

abnormal brain vasculature morphology ( J:86207 )

• vascular density and sprouting angiogenesis in the cerebellum, brain stem, and spinal cord are decreased compared to in wild-type mice

• at P1, mice exhibit a decrease in the number of branch points of blood vessels in the forebrain and cortex while the distance between branch points is increased compared with wild-type mice

decreased brain size ( J:86207 )

• cortical brain size is reduced to in wild-type mice

decreased neuron number ( J:86207 )

• neuronal cellularity in the more superficial cortical layers I-III is decreased compared to in wild-type mice

cardiovascular system

abnormal brain vasculature morphology ( J:86207 )

• vascular density and sprouting angiogenesis in the cerebellum, brain stem, and spinal cord are decreased compared to in wild-type mice

• at P1, mice exhibit a decrease in the number of branch points of blood vessels in the forebrain and cortex while the distance between branch points is increased compared with wild-type mice

abnormal retina vasculature morphology ( J:86207 )

• at P21, retinas lack a proper outer vascular plexus unlike in wild-type mice

abnormal vascular branching morphogenesis ( J:86207 )

• at P1, mice exhibit a decrease in the number of branch points of blood vessels in the forebrain and cortex while the distance between branch points is increased compared with wild-type mice

decreased angiogenesis ( J:86207 )

• in the cerebellum, brain stem, and spinal cord

Genotype
MGI:4422207

cn130

• Allelic Composition: Vegfa^tm2Gne/Vegfa^tm2.1Nagy; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CD-1 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:86207 )

• mice die of dehydration within 24 hours of birth

nervous system

abnormal brain vasculature morphology ( J:86207 )

• at P1, the cerebral cortex lacks pial vasculature unlike in wild-type mice

• mice exhibit deficient vascular development in the superficial levels of the cortex near the marginal zone and cortical plate, and in the deep ventricular zone compared with wild-type mice

• mice exhibit defects in blood vessel density compared with wild-type mice

• at P1, mice exhibit a decrease in the number of branch points of blood vessels in the cortex and forebrain while the distance between branch points is increased compared with wild-type mice

hydrocephaly ( J:86207 )

enlarged lateral ventricles ( J:86207 )

• in neonates

abnormal choroid plexus morphology ( J:86207 )

abnormal cerebral cortex morphology ( J:86207 )

• at P1, the cerebral cortex is decreased in size compared to in wild-type mice

• at P1, the cerebral cortex lacks pial vasculature and exhibits cortical degeneration unlike in wild-type mice

• mice exhibit altered cortical neuronal organization compared with wild-type mice

neuron degeneration ( J:86207 )

• at E13.5, mice exhibit neuron degeneration in the forebrain unlike wild-type mice

• mice exhibit neuron degeneration mainly in the subventricular zone unlike wild-type mice

• at E15.5, mice exhibit overt and anterior specific cortical neuronal degeneration unlike wild-type mice

abnormal neuron physiology ( J:86207 )

• by E15.5, mice exhibit an increase in neuron apoptosis in the cortex compared with wild-type mice

abnormal neuron proliferation ( J:86207 )

• mice exhibit a 25% reduction in proliferating neurons compared with wild-type mice

• at E13.5, mice exhibit a 60% reduction in the number of periventricular neurons in the forebrain compared with wild-type mice

cardiovascular system

abnormal brain vasculature morphology ( J:86207 )

• at P1, the cerebral cortex lacks pial vasculature unlike in wild-type mice

• mice exhibit deficient vascular development in the superficial levels of the cortex near the marginal zone and cortical plate, and in the deep ventricular zone compared with wild-type mice

• mice exhibit defects in blood vessel density compared with wild-type mice

• at P1, mice exhibit a decrease in the number of branch points of blood vessels in the cortex and forebrain while the distance between branch points is increased compared with wild-type mice

abnormal retina vasculature morphology ( J:86207 )

• at P1, sprouting angiogenesis into the inner plexiform layer is absent unlike in wild-type mice

abnormal vascular branching morphogenesis ( J:86207 )

• at P1, mice exhibit a decrease in the number of branch points of blood vessels in the cortex and forebrain while the distance between branch points is increased compared with wild-type mice

decreased angiogenesis ( J:86207 )

• at E15.5, decreased vessel density and lack of sprouting is pronounced compared to in wild-type mice

behavior/neurological

absent gastric milk in neonates ( J:86207 )

abnormal motor capabilities/coordination/movement ( J:86207 )

• neonates exhibit spastic uncontrolled movements unlike wild-type mice

• neonates fail to remain upright when placed in a prone position unlike wild-type mice

homeostasis/metabolism

dehydration ( J:86207 )

• mice die of dehydration within 24 hours of birth

hypoxia ( J:86207 )

• between E11.5 and E13.5 in the forebrain and throughout the CNS by E15.5

craniofacial

abnormal craniofacial morphology ( J:86207 )

• as early as E17.5, mice exhibit abnormal cranial morphology compared with wild-type mice

• neonates exhibit altered cranial morphology compared to in wild-type mice

vision/eye

abnormal retina vasculature morphology ( J:86207 )

• at P1, sprouting angiogenesis into the inner plexiform layer is absent unlike in wild-type mice

cellular

abnormal neuron proliferation ( J:86207 )

• mice exhibit a 25% reduction in proliferating neurons compared with wild-type mice

• at E13.5, mice exhibit a 60% reduction in the number of periventricular neurons in the forebrain compared with wild-type mice

Genotype
MGI:6385203

cn131

• Allelic Composition: Wdr45^tm1Beij/Wdr45^tm1Beij; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL

nervous system

axonal spheroids ( J:281235 )

♀ • numerous

homeostasis/metabolism

impaired autophagy ( J:281235 )

♀ • in neurons

cellular

impaired autophagy ( J:281235 )

♀ • in neurons

Genotype
MGI:6385204

cn132

• Allelic Composition: Wdr45^tm1Beij/Wdr45⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL

nervous system

axonal spheroids ( J:281235 )

♀ • intermediate

homeostasis/metabolism

impaired autophagy ( J:281235 )

♀ • intermediate in neurons

cellular

impaired autophagy ( J:281235 )

♀ • intermediate in neurons

Genotype
MGI:6385202

cn133

• Allelic Composition: Wdr45^tm1Beij/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL

nervous system

brain vacuoles ( J:281235 )

♂ • clusters of vacuolated structures in the thalamus, inferior colliculus, and medulla

astrocytosis ( J:281235 )

♂ • mild in the cortex, hippocampus, thalamus, hypothalamus, caudate nucleus, deep cerebellar nuclei, and pons

axon degeneration ( J:281235 )

♂ • occasionally in the deep cerebellar nuclei and medulla

axonal spheroids ( J:281235 )

♂ • Purkinje cell axonal swelling with swollen mitochondria in the deep cerebellar nuclei

♂ • progressive formation at 6 weeks and 4 months

demyelination ( J:281235 )

♂

abnormal excitatory postsynaptic potential ( J:281235 )

♂ • reduced

reduced long-term potentiation ( J:281235 )

♂

behavior/neurological

behavior/neurological phenotype ( J:281235 )

♂N • mice exhibit normal cued memory

impaired contextual conditioning behavior ( J:281235 )

♂

impaired spatial learning ( J:281235 )

♂ • impaired performance in a Morris water maze during training

♂ • impaired retention of spatial memory

abnormal spatial working memory ( J:281235 )

♂ • mice spend less time exploring the alternate arms of a Y-maze compared with wild-type mice

impaired coordination ( J:281235 )

♂ • impaired performance on a rotarod at 11 to 13 months, but not younger

homeostasis/metabolism

impaired autophagy ( J:281235 )

♂ • impaired autophagic flux in neurons

cellular

impaired autophagy ( J:281235 )

♂ • impaired autophagic flux in neurons

Genotype
MGI:3584455

cn134

• Allelic Composition: Gt(ROSA)26Sor^{tm1(HD*103Q)Xwy}/?; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

nervous system

abnormal cerebral cortex pyramidal cell morphology ( J:99759 )

• 35 of 37 neurons display dysmorphic axons compared to only 5 of 40 wild-type axons in cortex in 6-month old mice

cerebral cortex pyramidal cell degeneration ( J:99759 )

• at 1 year of age, an increase in degenerating neurons, including pyramidal neurons, is seen in the cortex compared to wild-type mice

gliosis ( J:99759 )

• the density of GFAP+ cells is increased 9-fold and 6-fold in the cortex and striatum, respectively, compared to wild-type littermates at 6 months

neurodegeneration ( J:99759 )

• at 1 year of age, an increase in degenerating neurons, including pyramidal neurons, is seen in the cortex compared to wild-type mice

abnormal inhibitory postsynaptic currents ( J:99759 )

• spontaneous inhibitory postsynaptic current frequency but not amplitude is significantly decreased; however no change in spontaneous excitatory postsynaptic currents is seen

behavior/neurological

decreased locomotor activity ( J:99759 )

• activity is reduced at 6, 8, and 10 months of age but not at 2 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Huntington's disease		DOID:12858	OMIM:143100	J:99759

Genotype
MGI:3617985

cn135

• Allelic Composition: Shh^tm2Amc/Shh^tm2Amc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:102950 )

• death by P15

growth/size/body

microcephaly ( J:102950 )

decreased body size ( J:147427 )

• animals are smaller than littermates, but are postnatally viable and have relatively normal gross morphology

postnatal growth retardation ( J:102950 )

• marked reduction in growth by the second postnatal week

nervous system

seizures ( J:102950 )

• pronounced extension of the hindlimbs in response to handling and seizure-like behavior by the second postnatal week

abnormal brain interneuron morphology ( J:102950 )

• reductions of somatostatin- and parvalbumin-expressing interneurons in somatosensory cortex

• somatostatin- and Npy-expressing interneurons are also reduced in the striatum

decreased brain size ( J:102950 , J:147427 )

• 10% decrease in cortical thickness at P12 (J:102950)

• animals display slightly smaller brain size than control littermates, but overall morphology of brain is relatively normal (J:147427)

disorganized thalamus ( J:147427 )

• thalamus organization is disrupted in mutants based on molecular marker analysis

abnormal medial ganglionic eminence morphology ( J:102950 )

• reduced interneuron fate determining gene Nkx2.1 expression in progenitors of the medial ganglionic eminence (MGE) cells in S-phase

• a subtle disruption of MGE patterning indicated by reduction of Gli1 and Nkx6.2 expression is observed

• however, other aspects of MGE progenitor identity are maintained

behavior/neurological

seizures ( J:102950 )

• pronounced extension of the hindlimbs in response to handling and seizure-like behavior by the second postnatal week

Genotype
MGI:5519893

cn136

• Allelic Composition: Edn2^tm1.1Nat/Edn2^tm1.1Nat; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

growth/size/body

growth/size/body region phenotype ( J:201436 )

N • mice exhibit normal growth

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:201436 )

N • mice exhibit normal core body temperature, even in a cold environment

Genotype
MGI:4422209

cn137

• Allelic Composition: Kdr^tm1Wag/Kdr^tm1Wag; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:86207 )

N • at E13.5, mice exhibit normal developing CNS

behavior/neurological

behavior/neurological phenotype ( J:86207 )

N • at 1 month, mice exhibit normal behavioral phenotypes

Genotype
MGI:5705240

cn138

• Allelic Composition: Irs2^tm2Mfw/Irs2^tm2Mfw; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

homeostasis/metabolism

increased circulating leptin level ( J:221293 )

♂

decreased oxygen consumption ( J:221293 )

♂

abnormal glucose homeostasis ( J:221293 )

♂

increased circulating glucose level ( J:221293 )

♂ • ad libitum feeding results in insignificantly increased blood glucose

increased fasting circulating glucose level ( J:221293 )

♂ • slightly elevated at 3 months

increased circulating insulin level ( J:221293 )

♂ • slightly increased

impaired glucose tolerance ( J:221293 )

♂ • slight impairment at 3 months

insulin resistance ( J:221293 )

♂ • at 9 months

decreased basal metabolism ( J:221293 )

♂ • reduced heat production

behavior/neurological

increased food intake ( J:221293 )

♂

Genotype
MGI:3764516

cn139

• Allelic Composition: Gba1^tm1Karl/Gba1^tm1Karl; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Gba1^tm1Karl/Gba1^tm1Karl Tg(Nes-cre)1Kln/? mice exhibit a more profound activation and proliferation of microglial cells than Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn/? mice

mortality/aging

premature death ( J:127108 )

• mice reach end stage paralysis later than Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn mice

nervous system

seizures ( J:127108 )

abnormal microglial cell morphology ( J:127108 )

• mice develop microgliosis

• migroglial cells in various parts of the brain including the cortex, thalamus, and cerebellum undergo substantial changes in size, number and morphology compared to in wild-type mice

• however, unlike in Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn mice no lipid-engorged microglial cells could be identified

• mice exhibited more profound proliferation and activation of microglial cells than in Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn mice

abnormal brain morphology ( J:127108 )

• migroglial cells in various parts of the brain including the cortex, thalamus, and cerebellum undergo substantial changes in size, number and morphology compared to in wild-type mice

astrocytosis ( J:127108 )

neuron degeneration ( J:127108 )

behavior/neurological

abnormal gait ( J:127108 )

paralysis ( J:127108 )

• mice develop paralysis at a slower rate than Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn mice

seizures ( J:127108 )

hematopoietic system

abnormal microglial cell morphology ( J:127108 )

• mice develop microgliosis

• migroglial cells in various parts of the brain including the cortex, thalamus, and cerebellum undergo substantial changes in size, number and morphology compared to in wild-type mice

• however, unlike in Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn mice no lipid-engorged microglial cells could be identified

• mice exhibited more profound proliferation and activation of microglial cells than in Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn mice

homeostasis/metabolism

abnormal lipid homeostasis ( J:127108 )

• glucosylceramide accumulates in the brain unlike in wild-type mice

immune system

abnormal microglial cell morphology ( J:127108 )

• mice develop microgliosis

• migroglial cells in various parts of the brain including the cortex, thalamus, and cerebellum undergo substantial changes in size, number and morphology compared to in wild-type mice

• however, unlike in Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn mice no lipid-engorged microglial cells could be identified

• mice exhibited more profound proliferation and activation of microglial cells than in Gba^tm2Karl/Gba^tm2Karl Tg(KRT14-cre)8Brn mice

Genotype
MGI:3713552

cn140

• Allelic Composition: Braf^tm1Sva/Braf^tm1.1Sva; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

lethality at weaning, incomplete penetrance ( J:121660 )

• mice tend to die in third week postnatal, although some survive to P35

growth/size/body

decreased body weight ( J:121660 )

• at P32, body weight is ~25% of littermates

postnatal growth retardation ( J:121660 )

• from P12-14 onwards, mice show severe growth retardation

behavior/neurological

behavior/neurological phenotype ( J:121660 )

N • mice show normal nociceptive response in hotplate assay

hyperactivity ( J:121660 )

• mice appear hyperactive

nervous system

nervous system phenotype ( J:121660 )

N • dorsal root ganglion neurons survive in mutants

abnormal adenohypophysis morphology ( J:121660 )

• perivascular hypothalamic axonal innervation is reduced

small adenohypophysis ( J:121660 )

• anterior lobe of pituitary gland is markedly reduced in size compared to controls

thin cerebral cortex ( J:121660 )

• disproportionate thinning of cortex is observed

endocrine/exocrine glands

abnormal adenohypophysis morphology ( J:121660 )

• perivascular hypothalamic axonal innervation is reduced

small adenohypophysis ( J:121660 )

• anterior lobe of pituitary gland is markedly reduced in size compared to controls

homeostasis/metabolism

hypoglycemia ( J:121660 )

• mice display significantly reduced bolood glucose levels

abnormal body temperature homeostasis ( J:121660 )

• when separated from other mice, body temperature drops rapidly

abnormal growth hormone level ( J:121660 )

• level is elevated in pituitary relative to controls

• level of growth hormone is elevated in individual pituitary endocrine cells

Genotype
MGI:3831188

cn141

• Allelic Composition: Tg(Nes-cre)1Kln/0; Wnt7a^tm1Amc/Wnt7a^tm1Amc; Wnt7b^tm1Parr/Wnt7b^tm2Amc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:142352 )

• all embryos die around E12.5 due to severe hemorrhaging within the central nervous system

cardiovascular system

abnormal vasculogenesis ( J:142352 )

• the number of endothelial cells and pericytes present in the intraneural vascular plexus of E12.5 embryos is greatly reduced

intracranial hemorrhage ( J:142352 )

• hemorrhaging is detected throughout the developing brain of E12.5 embryos

spinal hemorrhage ( J:142352 )

• hemorrhaging is detected throughout the developing spine of E12.5 embryos

abnormal blood-brain barrier function ( J:142352 )

• hemorrhaging and downregulation of the endothelial marker GLUT-1 suggest a defect in the blood brain barrier of developing embryos

nervous system

intracranial hemorrhage ( J:142352 )

• hemorrhaging is detected throughout the developing brain of E12.5 embryos

spinal hemorrhage ( J:142352 )

• hemorrhaging is detected throughout the developing spine of E12.5 embryos

abnormal blood-brain barrier function ( J:142352 )

• hemorrhaging and downregulation of the endothelial marker GLUT-1 suggest a defect in the blood brain barrier of developing embryos

Genotype
MGI:5475097

cn142

• Allelic Composition: Ei24^tm1Hzha/Ei24^tm1Hzha; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Limb-clasping in Ei24^tm1Hzha/Ei24^tm1Hzha Tg(Nes-cre)1Kln/0 mice

homeostasis/metabolism

impaired autophagy ( J:193420 )

• impaired autophagic flux in the brain and spinal cord at 4 months

mortality/aging

premature death ( J:193420 )

• 50% of mice die by 16 weeks

• all mice die by 19 weeks

nervous system

nervous system phenotype ( J:196603 )

N • mice do not exhibit accumulation of TDP-43 (Tardbp) aggregates in motor neurons

increased neuron apoptosis ( J:193420 )

• massive

abnormal nervous system morphology ( J:193420 )

• neural abnormalities increase progressively with age

reduced cerebellar foliation ( J:193420 )

enlarged lateral ventricles ( J:193420 )

abnormal brain white matter morphology ( J:193420 )

• thin white matter between the cortex and hippocampal pyramidal cells

abnormal hippocampus pyramidal cell layer ( J:193420 )

• thin

abnormal cerebral cortex morphology ( J:193420 )

• atrophic

thin cerebral cortex ( J:193420 )

• reduced ratio of cortical to dorsoventral thickness

abnormal Purkinje cell morphology ( J:193420 )

• shrunken appearance

decreased Purkinje cell number ( J:193420 )

• with age

thin cerebellar molecular layer ( J:193420 )

abnormal cerebellum fissure morphology ( J:193420 )

• reduced

brain vacuoles ( J:193420 )

• vacuolated cells in the cingulate cortex and to a lesser extent in other cortices, hippocampus, thalamus, and hypothalamus

• vacuolated cells in the white matter regions including the corpus callosum, the alveus of the hippocampus and the internal capsule

astrocytosis ( J:193420 )

• in the cerebrum, cerebellum and spinal cord

abnormal oligodendrocyte morphology ( J:193420 )

• numerous vacuolated cells in the spinal cord gray and white matter

abnormal axon morphology ( J:193420 )

• irregularly arranged in the alveus of the hippocampus

decreased myelin sheath thickness ( J:193420 )

• thinned and split in the deep cerebellar nuclei axons

decreased neuron number ( J:193420 )

• in cortical layers 1 through 4

• reduced interneuron numbers in the anterior horn of the lumbar spinal cord

• however, the number of motor neurons is normal

decreased hippocampus pyramidal cell number ( J:193420 )

decreased cerebral cortex pyramidal cell number ( J:193420 )

• in the fifth layers of the motor and sensory cortices

neuronal cytoplasmic inclusions ( J:193420 )

• in the cerebrum, cerebellum and spinal cord that increase in number and size with age

axon degeneration ( J:193420 )

• massive

• of Purkinje cell axons

axonal dystrophy ( J:193420 )

• of Purkinje cell axon terminals

axonal spheroids ( J:193420 )

• eosinophilic spheroids in the cortex

• large eosinophilic spheroids in the deep cerebellar nuclei

behavior/neurological

abnormal behavior ( J:193420 )

• motor and behavioral deficits beginning at 6 weeks and progressively worsening

abnormal motor capabilities/coordination/movement ( J:193420 )

• beginning at 6 weeks and progressively worsening

abnormal involuntary movement ( J:193420 )

• hyperextended position of hind limbs

limb grasping ( J:193420 )

• in 8 of 12 mice at 6 weeks

• in all mice at 8 weeks

tremors ( J:193420 )

• at 8 weeks

ataxia ( J:193420 )

• at 12 weeks

impaired coordination ( J:193420 )

• at 3 months

growth/size/body

decreased body weight ( J:193420 )

• by 3 months

postnatal growth retardation ( J:193420 )

• at 2 weeks

cellular

impaired autophagy ( J:193420 )

• impaired autophagic flux in the brain and spinal cord at 4 months

increased neuron apoptosis ( J:193420 )

• massive

Genotype
MGI:5660861

cn143

• Allelic Composition: Nlgn3^tm4.1Sud/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

behavior/neurological

increased locomotor activity ( J:214636 )

♂ • mice are hyperactive during open-field tests, showing increased total distance traveled and increased number of ambulatory episodes

Genotype
MGI:3719686

cn144

• Allelic Composition: Lhx1^tm4Bhr/Lhx1^tm4Bhr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:123471 )

• die soon after birth

Genotype
MGI:5052135

cn145

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Actb-Met)Fmai}/?; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

vision/eye

vision/eye phenotype ( J:173661 )

N • no effect on retinal ganglion cell survival after optic nerve axotomy

Genotype
MGI:3719689

cn146

• Allelic Composition: Lhx1^tm1Tmj/Lhx1^tm4Bhr; Lhx5^tm1Lmgd/Lhx5^tm1Lmgd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

nervous system

absent cerebellar foliation ( J:123471 )

• absent at E18.5

decreased Purkinje cell number ( J:123471 )

• largely absent at E18.5

• however, granule cells are specified properly

absent Purkinje cell layer ( J:123471 )

• layer is absent at E18.5

small cerebellum ( J:123471 )

• small at E14.5 and E18.5 compared to controls (mice with at least 1 wild-type allele)

Genotype
MGI:5566781

cn147

• Allelic Composition: Hsd11b1^tm1.2Awhi/Hsd11b1^tm1.2Awhi; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

behavior/neurological

abnormal food intake ( J:207713 )

• in mice fed a high fat diet compared with Nes mice

• intake in mice fed a high fat diet is lower than in Hsd11b1^tm1.2Awhi homozygotes or C57BL/6J mice

growth/size/body

growth/size/body region phenotype ( J:207713 )

N • mice fed a high fat diet exhibit normal increase in weight and changes in body composition

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:207713 )

N • mice exhibit normal circulating corticosterone levels

N • mice fed a high fat diet exhibit normal changed in glucose metabolism

Genotype
MGI:4440460

cn148

• Allelic Composition: Dag1^tm2Kcam/Dag1^tm2Kcam; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

vision/eye

mydriasis ( J:158199 )

• pupils are dilated but responsive to light

anterior iris synechia ( J:158199 )

• synechia of the iris and cornea

cornea opacity ( J:158199 )

• corneal opacities

buphthalmos ( J:158199 )

microphthalmia ( J:158199 )

abnormal rod electrophysiology ( J:158199 )

• the positive scotopic threshold response is significantly reduced

• the b-wave responses are severely attenuated

blindness ( J:158199 )

• in the Morris water maze and visual cliff test

Genotype
MGI:5705238

cn149

• Allelic Composition: Irs2^tm2Mfw/Irs2^tm2Mfw; Irs4^tm1.1Mfw/Y; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

growth/size/body

increased body weight ( J:221293 )

♂ • 60% heavier than controls

♂ • 20% heavier than Irs2^tm2Mfw / Tg(Nes-cre)1Kln male mice

adipose tissue

abnormal adipose tissue amount ( J:221293 )

♂ • increased adipose tissue relative to Irs2^tm2Mfw / Tg(Nes-cre)1Kln male mice

increased brown fat cell lipid droplet size ( J:221293 )

♂ • larger lipid filled vacuoles in brown adipose tissue compared to Irs2^tm2Mfw / Tg(Nes-cre)1Kln male mice

♂ • resembles white adipose tissue

liver/biliary system

hepatic steatosis ( J:221293 )

♂

homeostasis/metabolism

increased circulating leptin level ( J:221293 )

♂ • greatly elevated

decreased oxygen consumption ( J:221293 )

♂

abnormal glucose homeostasis ( J:221293 )

♂

increased circulating glucose level ( J:221293 )

♂ • ad libitum feeding results in increased blood glucose

increased fasting circulating glucose level ( J:221293 )

♂ • dramatically elevated at 3 months

increased circulating insulin level ( J:221293 )

♂ • 5 fold elevation

impaired glucose tolerance ( J:221293 )

♂ • dramatically impaired at 3 months

insulin resistance ( J:221293 )

♂ • at 3 months and persisting to at least 9 months

decreased basal metabolism ( J:221293 )

♂ • reduced heat production

behavior/neurological

increased food intake ( J:221293 )

♂ • food intake increased 10% more than in Irs2^tm2Mfw / Tg(Nes-cre)1Kln male mice

Genotype
MGI:3665560

cn150

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL * Swiss Webster

mortality/aging

postnatal lethality, incomplete penetrance ( J:108507 )

• about 10% of mice survive to 3 weeks of age

nervous system

decreased brain size ( J:108507 )

• overall size of mutant brains is smaller than wild-type

abnormal cerebellum morphology ( J:108507 )

• four principal fissures are very shallow

abnormal cerebellar foliation ( J:108507 )

• in lateral regions, foliation is limited to slight indentations only in central and posterior regions

small cerebellum ( J:108507 )

• at E16.5, cerebella appear grossly normal, but reduced in size

• at P21, cerebella shows more pronounced reduction in size vs wild-type

• AP axis is more dramatically reduced than ML axis

Genotype
MGI:5795748

cn151

• Allelic Composition: Pnkp^tm1.1Pmc/Pnkp^tm1.1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:226703 )

• mice do not survive past 5 days of age

cellular

increased brain apoptosis ( J:226703 )

• mice show abundant cell death from E13 onwards throughout the developing nervous system

• apoptosis is seen in the developing cerebellum

decreased cell proliferation ( J:226703 )

• reduction in proliferation is seen in the developing nervous system

abnormal DNA repair ( J:226703 )

abnormal double-strand DNA break repair ( J:226703 )

• primary astrocytes show a defect in the repair of DNA double strand breaks after bleomycin treatment

abnormal single-strand DNA break repair ( J:226703 )

• primary cortical non-replicating astrocytes show a deficiency in the repair of DNA damage after treatment with ionizing radiation, hydrogen peroxide, or camptothecin

nervous system

intracranial hemorrhage ( J:226703 )

• hemorrhage in the brain

increased brain apoptosis ( J:226703 )

• mice show abundant cell death from E13 onwards throughout the developing nervous system

• apoptosis is seen in the developing cerebellum

abnormal brain interneuron morphology ( J:226703 )

• reduction in cerebellar interneurons

abnormal cerebellar cortex morphology ( J:226703 )

• smaller cortex

• however, the layering of the cortex still occurs

decreased neuron number ( J:226703 )

• reduction in numbers of neurons in the cortex, particularly in later-born upper cortical layers

cardiovascular system

intracranial hemorrhage ( J:226703 )

• hemorrhage in the brain

homeostasis/metabolism

abnormal DNA repair ( J:226703 )

abnormal double-strand DNA break repair ( J:226703 )

• primary astrocytes show a defect in the repair of DNA double strand breaks after bleomycin treatment

abnormal single-strand DNA break repair ( J:226703 )

• primary cortical non-replicating astrocytes show a deficiency in the repair of DNA damage after treatment with ionizing radiation, hydrogen peroxide, or camptothecin

Genotype
MGI:4359667

cn152

• Allelic Composition: Xrcc1^tm1Pmc/Xrcc1^tm1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

mortality/aging

premature death ( J:152528 )

• mice die by 4 months of age of uncertain causes

nervous system

seizures ( J:152528 )

• seizures or episodic epilepsy

increased neuron apoptosis ( J:152528 )

• at P7, apoptosis in the external granule layer is increased compared to in wild-type mice

• however, no apoptosis in white mater is observed

abnormal neuron differentiation ( J:152528 )

• at E13.5, neural progenitor cells in the proliferative ventricular zone exhibit increased apoptosis compared to in wild-type mice

• from P0 onward, the number of Pax2+ interneuron progenitor cells is decreased compared to in wild-type mice

• from birth, the number of Pax3+ cells in the white matter are decreased and are absent by P7 unlike in wild-type mice

• however, Pax3+ cells in the external germinal layer are less effected

abnormal brain interneuron morphology ( J:152528 )

• cerebellar GABAergic interneurons in the molecular layer (mainly basket and stellate cells) and Golgi cells in the granule cell layer are almost absent

• however, cerebellum populations of unipolar brush and Lugaro cells are intact and interneuron populations in other areas of the brain are normal

decreased brain size ( J:152528 )

abnormal brain white matter morphology ( J:152528 )

• white matter contains fewer proliferating cells than in wild-type mice without an increase in apoptosis from birth to P10

small cerebellum ( J:152528 )

• reduced 30% compared to in wild-type mice

loss of GABAergic neurons ( J:152528 )

• cerebellar GABAergic interneurons in the molecular layer (mainly basket and stellate cells) are almost absent unlike in wild-type mice

homeostasis/metabolism

abnormal DNA repair ( J:145730 , J:152528 )

• primary quiescent astrocytes treated with MMS or hydrogen peroxide exhibit increased accumulation of DNA strand breaks compared with similarly treated wild-type cells (J:145730)

• neurons from P15 cerebella subjected to alkaline comet analysis exhibit a 4-fold increase in global DNA strand breaks compared to in similarly treated wild-type neurons (J:152528)

• DNA strand breaks in postmitotic cerebellar granule cell neurons and quiescent cortical astrocytes exposed to ionizing radiation or hydrogen peroxide remain unrepaired after a prolonged recovery unlike similarly treated wild-type cells (J:152528)

• DNA damage markers accumulate in the brain throughout development unlike in wild-type mice (J:152528)

• the hippocampus displays increased unrepaired DNA damage compared to in wild-type mice (J:152528)

growth/size/body

decreased body size ( J:152528 )

• adult mice are 75% the size and weight of wild-type mice

decreased body weight ( J:152528 )

• adult mice are 75% the size and weight of wild-type mice

postnatal growth retardation ( J:152528 )

behavior/neurological

ataxia ( J:152528 )

• mice exhibit progressive and mild ataxia accompanied by episodic spasms unlike wild-type mice

seizures ( J:152528 )

• seizures or episodic epilepsy

cellular

cellular phenotype ( J:226703 )

N • primary astrocytes show normal repair of DNA double strand breaks after bleomycin treatment

increased neuron apoptosis ( J:152528 )

• at P7, apoptosis in the external granule layer is increased compared to in wild-type mice

• however, no apoptosis in white mater is observed

abnormal neuron differentiation ( J:152528 )

• at E13.5, neural progenitor cells in the proliferative ventricular zone exhibit increased apoptosis compared to in wild-type mice

• from P0 onward, the number of Pax2+ interneuron progenitor cells is decreased compared to in wild-type mice

• from birth, the number of Pax3+ cells in the white matter are decreased and are absent by P7 unlike in wild-type mice

• however, Pax3+ cells in the external germinal layer are less effected

abnormal DNA repair ( J:145730 , J:152528 )

• primary quiescent astrocytes treated with MMS or hydrogen peroxide exhibit increased accumulation of DNA strand breaks compared with similarly treated wild-type cells (J:145730)

• neurons from P15 cerebella subjected to alkaline comet analysis exhibit a 4-fold increase in global DNA strand breaks compared to in similarly treated wild-type neurons (J:152528)

• DNA strand breaks in postmitotic cerebellar granule cell neurons and quiescent cortical astrocytes exposed to ionizing radiation or hydrogen peroxide remain unrepaired after a prolonged recovery unlike similarly treated wild-type cells (J:152528)

• DNA damage markers accumulate in the brain throughout development unlike in wild-type mice (J:152528)

• the hippocampus displays increased unrepaired DNA damage compared to in wild-type mice (J:152528)

Genotype
MGI:5771800

cn153

• Allelic Composition: Smarcb1^tm2Sho/Smarcb1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

mortality/aging

prenatal lethality, incomplete penetrance ( J:226786 )

• most embryos die in utero

reproductive system

decreased litter size ( J:226786 )

Genotype
MGI:5771799

cn154

• Allelic Composition: Smarcb1^tm2Sho/Smarcb1^tm2Sho; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

mortality/aging

prenatal lethality, complete penetrance ( J:226786 )

Genotype
MGI:3831346

cn155

• Allelic Composition: Lig4^tm1Pmc/Lig4^tm1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

cellular

abnormal double-strand DNA break repair ( J:226703 )

• primary astrocytes show a defect in the repair of DNA double strand breaks after bleomycin treatment

nervous system

nervous system phenotype ( J:144617 )

N • compared to germ line deletions of this gene, mice exhibit no increase in apoptosis during neural development

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:226703 )

• primary astrocytes show a defect in the repair of DNA double strand breaks after bleomycin treatment

Genotype
MGI:5795758

cn156

• Allelic Composition: Atm^tm2Pmc/Atm^tm2Pmc; Pnkp^tm1.1Pmc/Pnkp^tm1.1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

cardiovascular system

intracranial hemorrhage ( J:226703 )

• hemorrhage in the brain

cellular

increased brain apoptosis ( J:226703 )

• apoptosis in the developing cerebellum is similar to single conditional Pnkp mutants

nervous system

intracranial hemorrhage ( J:226703 )

• hemorrhage in the brain

increased brain apoptosis ( J:226703 )

• apoptosis in the developing cerebellum is similar to single conditional Pnkp mutants

abnormal brain interneuron morphology ( J:226703 )

• reduction in cerebellar interneurons

Genotype
MGI:3831335

cn157

• Allelic Composition: Xrcc2^tm2Pmc/Xrcc2^tm2Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:144617 )

N • compared to germ line deletions of this gene, mice exhibit no increase in apoptosis during neural development

Genotype
MGI:4946938

cn158

• Allelic Composition: Xrcc1^tm1Pmc/Xrcc1^tm1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/Sv * FVB/N

cellular

abnormal DNA repair ( J:170077 )

• astrocytes exhibit unrepaired DNA damage in response to ionizing radiation, hydrogen peroxide, and ultraviolet irradiation compared with similarly treated wild-type cells

homeostasis/metabolism

abnormal DNA repair ( J:170077 )

• astrocytes exhibit unrepaired DNA damage in response to ionizing radiation, hydrogen peroxide, and ultraviolet irradiation compared with similarly treated wild-type cells

Genotype
MGI:3831179

cn159

• Allelic Composition: Lig4^tm1Pmc/Lig4^tm1Pmc; Mre11a^tm1Jpt/Mre11a^tm1Jpt; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/SvImJ * 129S7/SvEvBrd * C57BL/6 * SJL

behavior/neurological

ataxia ( J:144172 )

• at 7 to 9 months, mice develop severe hind-limb ataxia or unknown etiology

nervous system

nervous system phenotype ( J:144172 )

N • unlike in mice with Lig4^tm1Pmc/Lig4^tm1Pmc Tg(Nes-cre)1Kln, mice do not exhibit any increased apoptosis in the nervous system, and microencephaly is rescued

Genotype
MGI:3831185

cn160

• Allelic Composition: Lig4^tm1Pmc/Lig4^tm1Pmc; Nbn^tm1Jpt/Nbn^tm1Jpt; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/SvImJ * 129S7/SvEvBrd * C57BL/6 * SJL

nervous system

abnormal brain development ( J:144172 )

• at E13.5 and E15.5, neural tissue apoptosis is increased compared to in wild-type mice

decreased brain weight ( J:144172 )

growth/size/body

microcephaly ( J:144172 )

Genotype
MGI:3831182

cn161

• Allelic Composition: Atm^tm1Pmc/Atm^tm1Pmc; Lig4^tm1Pmc/Lig4^tm1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/SvImJ * C57BL/6 * SJL

behavior/neurological

ataxia ( J:144172 )

• at 7 to 9 months, mice develop severe hind-limb ataxia or unknown etiology

nervous system

nervous system phenotype ( J:144172 )

N • unlike in mice with Lig4^tm1Pmc/Lig4^tm1Pmc Tg(Nes-cre)1Kln, mice do not exhibit any increased apoptosis in the nervous system, and microcephaly is rescued

Genotype
MGI:3831178

cn162

• Allelic Composition: Lig4^tm1Pmc/Lig4^tm1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S1/SvImJ * C57BL/6 * SJL

nervous system

abnormal brain development ( J:144172 )

• at E13.5 and E15.5, neural tissue apoptosis is increased compared to in wild-type mice

• however, brain morphology is otherwise normal

decreased brain size ( J:144172 )

• brain size is reduced as much as 40% compared to in littermate controls

decreased brain weight ( J:144172 )

homeostasis/metabolism

abnormal DNA repair ( J:144172 )

• DNA damage in the brain accumulates with age unlike in wild-type mice

• mice fail to repair ionizing radiation-induced DNA damage after 1 week compared to similarly treated wild-type mice that exhibit repair after 24 hours

behavior/neurological

ataxia ( J:144172 )

• at 7 to 9 months, mice develop severe hind-limb ataxia or unknown etiology

cellular

abnormal DNA repair ( J:144172 )

• DNA damage in the brain accumulates with age unlike in wild-type mice

• mice fail to repair ionizing radiation-induced DNA damage after 1 week compared to similarly treated wild-type mice that exhibit repair after 24 hours

growth/size/body

microcephaly ( J:144172 )

Genotype
MGI:5291908

cn163

• Allelic Composition: Rbfox1^tm1.1Dblk/Rbfox1^tm1.1Dblk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:176189 )

• in mice treated with kainic acid

reproductive system

reduced fertility ( J:176189 )

nervous system

nervous system phenotype ( J:176189 )

N • mice exhibit normal gross brain morphology

seizures ( J:176189 )

• infrequent spontaneous seizures

increased susceptibility to pharmacologically induced seizures ( J:176189 )

• increased incidence and duration of tonic-clonic seizures resulting in death in response to kainic acid treatment

tonic-clonic seizures ( J:176189 )

• in mice treated with kainic acid

decreased dendritic spine density ( J:176189 )

• very modest decrease in spine density in the dentate gyrus

abnormal excitatory postsynaptic potential ( J:176189 )

• mice require lower stimulus intensities to evoke field excitatory postsynaptic potentials compared with control mice

growth/size/body

decreased body size ( J:176189 )

• slightly

behavior/neurological

seizures ( J:176189 )

• infrequent spontaneous seizures

increased susceptibility to pharmacologically induced seizures ( J:176189 )

• increased incidence and duration of tonic-clonic seizures resulting in death in response to kainic acid treatment

tonic-clonic seizures ( J:176189 )

• in mice treated with kainic acid

homeostasis/metabolism

increased susceptibility to xenobiotic induced morbidity/mortality ( J:176189 )

• in mice treated with kainic acid

Genotype
MGI:5291909

cn164

• Allelic Composition: Rbfox1^tm1.1Dblk/Rbfox1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:176189 )

• in mice treated with kainic acid

nervous system

increased susceptibility to pharmacologically induced seizures ( J:176189 )

• increased incidence resulting in death in response to kainic acid treatment

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:176189 )

• increased incidence resulting in death in response to kainic acid treatment

homeostasis/metabolism

increased susceptibility to xenobiotic induced morbidity/mortality ( J:176189 )

• in mice treated with kainic acid

Genotype
MGI:2682063

cn165

• Allelic Composition: Ext1^tm1Yama/Ext1⁺; Slit2^tm1Matl/Slit2^tm1Matl; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * 129S5/SvEvBrd * C57BL/6 * SJL

nervous system

abnormal axon guidance ( J:86465 )

• 59-67% of retinal axons project ectopically into the contralateral optic nerve

cellular

abnormal axon guidance ( J:86465 )

• 59-67% of retinal axons project ectopically into the contralateral optic nerve

Genotype
MGI:5526849

cn166

• Allelic Composition: Trp53^tm1Tyj/Trp53^tm1Tyj; Usp7^tm2Wgu/Usp7^tm2Wgu; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:203102 )

nervous system

nervous system phenotype ( J:203102 )

N • mice exhibit normal forebrain, midbrain and cerebellum size, cerebellum thickness and neural cell density

open neural tube ( J:203102 )

• in some mice

embryo

open neural tube ( J:203102 )

• in some mice

Genotype
MGI:5294457

cn167

• Allelic Composition: Crhr1^tm2Wrst/Crhr1^tm2Wrst; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

behavior/neurological

behavior/neurological phenotype ( J:176339 )

N • mice exhibit normal anxiety-related behavior

Genotype
MGI:5466593

cn168

• Allelic Composition: Mbd5^tm1.1Gxu/Mbd5^tm1.1Gxu; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:192212 )

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:192212 )

decreased circulating growth hormone level ( J:192212 )

growth/size/body

decreased body size ( J:192212 )

postnatal growth retardation ( J:192212 )

Genotype
MGI:5291910

cn169

• Allelic Composition: Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

mortality/aging

lethality, incomplete penetrance ( J:181631 )

• mice that develop hydrocephalus require euthanasia

postnatal lethality, incomplete penetrance ( J:181631 )

• about 40% of males die by 1 month of age

nervous system

hydrocephaly ( J:181631 )

• some surviving mice (12 of 33) develop hydrocephalus at 8 - 12 weeks of age

increased Purkinje cell number ( J:181631 )

• about 20% more Purkinje cells per unit area at P5 in the cerebellum

• however, at later stages cell numbers do not differ

ectopic Purkinje cell ( J:181631 )

• more than 10% of the Purkinje cells are ectopically located in the internal granule cell layer at P10

thin cerebellar molecular layer ( J:181631 )

• at P10

small cerebellum ( J:181631 )

abnormal neuron physiology ( J:181631 )

• Purkinje cells show a moderate decrease in firing frequency

increased neuron apoptosis ( J:181631 )

• three fold increase in apoptosis per unit are at P5 in the cerebellum

abnormal Purkinje cell migration ( J:181631 )

• at E18 many Purkinje cells remain near their origin in the ventricular zone

decreased cerebellar granule cell precursor proliferation ( J:181631 )

• minor decrease in proliferation in the external granule cell layer

• marked reduction in proliferation in the internal granule cell layer

behavior/neurological

behavior/neurological phenotype ( J:176189 )

N • mice exhibit normal susceptibility to spontaneous or induced seizures

abnormal posture ( J:181631 )

• worsens with age

abnormal locomotor activation ( J:181631 )

• impaired locomotion that worsens with age

growth/size/body

decreased body weight ( J:181631 )

• males weigh only 44% of wild-type males at P21

• females weigh only 59% of wild-type females at P21

cellular

increased neuron apoptosis ( J:181631 )

• three fold increase in apoptosis per unit are at P5 in the cerebellum

abnormal Purkinje cell migration ( J:181631 )

• at E18 many Purkinje cells remain near their origin in the ventricular zone

decreased cerebellar granule cell precursor proliferation ( J:181631 )

• minor decrease in proliferation in the external granule cell layer

• marked reduction in proliferation in the internal granule cell layer

Genotype
MGI:5318255

cn170

• Allelic Composition: Rbfox1^tm1.1Dblk/Rbfox1^tm1.1Dblk; Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

mortality/aging

perinatal lethality, complete penetrance ( J:181631 )

Genotype
MGI:5318256

cn171

• Allelic Composition: Rbfox1^tm1.1Dblk/Rbfox1⁺; Rbfox2^tm1.1Dblk/Rbfox2^tm1.1Dblk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:181631 )

• euthanasia due to immobility by 3?4 weeks of age

nervous system

ectopic Purkinje cell ( J:181631 )

small cerebellum ( J:181631 )

abnormal neuron physiology ( J:181631 )

• Purkinje cells show a marked decrease in firing frequency

behavior/neurological

ataxia ( J:181631 )

• develop severe ataxia by 2 weeks of age becoming immobile by 3-4 weeks of age

growth/size/body

decreased body size ( J:181631 )

• very small

Genotype
MGI:4366028

cn172

• Allelic Composition: Pkd1^tm2.2Bol/Pkd1^tm3.1Bol; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac * SJL

Hydrocephalus in Pkd1^tm2.2Bol/Pkd1^tm3.1Bol Tg(Nes-cre)1Kln/0 mice

mortality/aging

postnatal lethality, complete penetrance ( J:153606 )

• around P12

nervous system

hydrocephaly ( J:153606 )

• at P8

abnormal brain ventricle morphology ( J:153606 )

• at P10, mice exhibit a triventricular phenotype unlike wild-type mice

dilated lateral ventricle ( J:153606 )

dilated third ventricle ( J:153606 )

• at P8

renal/urinary system

kidney cyst ( J:153606 )

kidney failure ( J:153606 )

growth/size/body

kidney cyst ( J:153606 )

Genotype
MGI:3044602

cn173

• Allelic Composition: Tg(ACTB-NOTCH1)1Shn/0; Tg(Nes-cre)1Kln/0; Trp53^tm1Tyj/Trp53⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

cellular

abnormal apoptosis ( J:90392 )

• at E10 - 11.5 the number of apoptotic cells in the brain is increased

Genotype
MGI:3044601

cn174

• Allelic Composition: Tg(ACTB-NOTCH1)1Shn/0; Tg(Nes-cre)1Kln/0; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

mortality/aging

prenatal lethality, incomplete penetrance ( J:90392 )

• fewer than expected double transgenic homozygous mutants are found due to incomplete penetrance of Trp53^tm1Tyj embryonic lethality

cellular

cellular phenotype ( J:90392 )

N • at E10 - 11.5 no increase in the number of apoptotic cells in the brain is found unlike in double transgenics with wild-type Trp53

Genotype
MGI:5316227

cn175

• Allelic Composition: Atr^tm2Bal/Atr^tm2Bal; Trp53^tm1Tyj/Trp53^tm1Tyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

nervous system

abnormal neuron apoptosis ( J:181920 )

• attenuated apoptosis in the external granule layer and ganglionic eminence compared to mutant mice wild-type for Trp53

• partial rescue of apoptosis in the forebrain compared to mutant mice wild-type for Trp53

abnormal neuron proliferation ( J:181920 )

• substantial enhancement of neurosphere size and growth compared to mutant mice wild-type for Trp53

• however, after 7 days in culture expansion stops and cells fail to survive

abnormal nervous system morphology ( J:181920 )

• similar neuropathology to mutant mice wild-type for Trp53

cellular

abnormal neuron apoptosis ( J:181920 )

• attenuated apoptosis in the external granule layer and ganglionic eminence compared to mutant mice wild-type for Trp53

• partial rescue of apoptosis in the forebrain compared to mutant mice wild-type for Trp53

abnormal neuron proliferation ( J:181920 )

• substantial enhancement of neurosphere size and growth compared to mutant mice wild-type for Trp53

• however, after 7 days in culture expansion stops and cells fail to survive

Genotype
MGI:3807708

cn176

• Allelic Composition: Gja1^tm8Kwi/Gja1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:132032 )

N • deletion of Gja1 in early neurons does not affect survival of mice; number of mutants per litter and average litter size do not differ from expected

Genotype
MGI:5304330

cn177

• Allelic Composition: Ccne1^tm3.1Pisc/Ccne1^tm3.1Pisc; Ccne2^tm1Pisc/Ccne2^tm1Pisc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:178882 )

N • mice exhibit normal proliferation rates throughout embryonic brain development, numbers of proliferating progenitor cells in the subventricular zone, and numbers of neural stem/progenitor cells

abnormal dendritic spine morphology ( J:178882 )

• adult mice exhibit reduced spine length, width, and estimated spine volume compared with control mice

abnormal postsynaptic density morphology ( J:178882 )

• in the CA1 stratum radiatum, neurons exhibit reduced length of postsynaptic densities compared with control neurons

decreased excitatory postsynaptic current frequency ( J:178882 )

• spontaneous excitatory postsynaptic current frequency in CA1 pyramidal neurons is reduced compared to in control neurons

abnormal excitatory postsynaptic potential ( J:178882 )

• field excitatory postsynaptic potential amplitude and slope are decreased compared to in control mice

reduced NMDA-mediated synaptic currents ( J:178882 )

reduced long-term potentiation ( J:178882 )

behavior/neurological

abnormal spatial learning ( J:178882 )

• mice exhibit impaired performance in a Morris water maze and spatial reversal learning compared with control mice

Genotype
MGI:3815323

cn178

• Allelic Composition: Gt(ROSA)26Sor^tm1(Crh)Jde/Gt(ROSA)26Sor^tm1(Crh)Jde; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

nervous system

abnormal seizure response to pharmacological agent ( J:140968 )

• onset and duration of kainate -induced seizure activity is altered in these mice

• onset of seizures occurs significantly faster with mutant mice having high seizure scores within twenty minutes of injection compared to the moderate scores of wild-type mice

• mutant mice recover from induced seizures within 2 hours of induction compared to 4 hours for wild-type mice

• two of nine mutant mice died within 30 minutes of kainate injection compared to none of the wild-type mice

decreased susceptibility to neuronal excitotoxicity ( J:140968 )

• mice are protected from extensive pyramidal cell loss in the hippocampal CA3 region resulting from kainate injection

• the mice are also protected from neuroinflammation induced by kainate

• the neuronal damage score of this brain region is half that of wild-type mice injected with the same amount of kainate

• no injury is detectable in the CA1 region and in the granule cell layer of the dentate gyrus while in wild-type mice injury is sometimes observed

behavior/neurological

abnormal seizure response to pharmacological agent ( J:140968 )

• onset and duration of kainate -induced seizure activity is altered in these mice

• onset of seizures occurs significantly faster with mutant mice having high seizure scores within twenty minutes of injection compared to the moderate scores of wild-type mice

• mutant mice recover from induced seizures within 2 hours of induction compared to 4 hours for wild-type mice

• two of nine mutant mice died within 30 minutes of kainate injection compared to none of the wild-type mice

homeostasis/metabolism

decreased susceptibility to neuronal excitotoxicity ( J:140968 )

• mice are protected from extensive pyramidal cell loss in the hippocampal CA3 region resulting from kainate injection

• the mice are also protected from neuroinflammation induced by kainate

• the neuronal damage score of this brain region is half that of wild-type mice injected with the same amount of kainate

• no injury is detectable in the CA1 region and in the granule cell layer of the dentate gyrus while in wild-type mice injury is sometimes observed

cellular

decreased susceptibility to neuronal excitotoxicity ( J:140968 )

• mice are protected from extensive pyramidal cell loss in the hippocampal CA3 region resulting from kainate injection

• the mice are also protected from neuroinflammation induced by kainate

• the neuronal damage score of this brain region is half that of wild-type mice injected with the same amount of kainate

• no injury is detectable in the CA1 region and in the granule cell layer of the dentate gyrus while in wild-type mice injury is sometimes observed

Genotype
MGI:4840349

cn179

• Allelic Composition: Ntrk2^tm2Kln/Ntrk2^tm2Kln; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

premature death ( J:132562 )

• mice die between 3 and 8 months

nervous system

abnormal neuron differentiation ( J:132562 )

• expression of parvalbumin in the entorhinal cortex and the hippocampus is reduced compared to in wild-type mice

• in the most superficial layers of the neocortex dendrites are fasiculated and poorly stained while in the deepest layers (V-VI) staining is reduced compared to in wild-type mice

abnormal axon fasciculation ( J:132562 )

• in the most superficial layers of the neocortex dendrites are fasiculated and poorly stained while in the deepest layers (V-VI) staining is reduced compared to in wild-type mice

abnormal neuronal migration ( J:132562 )

• delayed at E18.5

abnormal brain morphology ( J:132562 )

• mice exhibit severe caudal retraction of the cortical hemisphere compared to in wild-type mice

• however, the olfactory bulb and cerebellum are normal

abnormal cortical plate morphology ( J:132562 )

• at E18.5, proliferating cells are more diffusely disturbed in the central part of the cortical plate compared to in wild-type mice

abnormal cerebral cortex morphology ( J:132562 )

• the thickness of all layers is reduced compared to in wild-type mice

• layer II/III is slightly compressed with tightly packed neurons compared to in wild-type mice

• however, lamination is normal

abnormal somatosensory cortex morphology ( J:132562 )

• severely compressed

abnormal visual cortex morphology ( J:132562 )

• severely compressed

abnormal myelin sheath morphology ( J:132562 )

• reduced

demyelination ( J:132562 )

• in the central nervous system

behavior/neurological

hyperactivity ( J:132562 )

growth/size/body

postnatal growth retardation ( J:132562 )

• after P21

cellular

abnormal neuron differentiation ( J:132562 )

• expression of parvalbumin in the entorhinal cortex and the hippocampus is reduced compared to in wild-type mice

• in the most superficial layers of the neocortex dendrites are fasiculated and poorly stained while in the deepest layers (V-VI) staining is reduced compared to in wild-type mice

abnormal axon fasciculation ( J:132562 )

• in the most superficial layers of the neocortex dendrites are fasiculated and poorly stained while in the deepest layers (V-VI) staining is reduced compared to in wild-type mice

abnormal neuronal migration ( J:132562 )

• delayed at E18.5

Genotype
MGI:5316221

cn180

• Allelic Composition: Atr^tm2Bal/Atr^tm2Bal; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:181920 )

• die by P7

nervous system

increased neuron apoptosis ( J:181920 )

• elevated apoptosis is detected in the external granule cell layer at E16.5

• high levels of DNA damage and elevated apoptosis in the ganglionic eminence at E15.5

abnormal neuron proliferation ( J:181920 )

• striking decrease in proliferation at E16.5 in the rhombic lip

• decrease in the size and growth of neurospheres indicating a defect in proliferation

decreased cerebellar granule cell precursor proliferation ( J:181920 )

• striking decrease in proliferation at E16.5 in the cerebellar external granule cell layer

abnormal cerebellum development ( J:181920 )

• marked defects in cerebellar development

abnormal rhombic lip morphology ( J:181920 )

• striking decrease in proliferation at E16.5 in the rhombic lip

decreased brain size ( J:181920 )

abnormal corpus callosum morphology ( J:181920 )

• decreased cellularity

abnormal cerebral cortex morphology ( J:181920 )

• decreased cellularity, especially in the upper layers

abnormal olfactory bulb granule cell layer morphology ( J:181920 )

• depleted

ectopic Purkinje cell ( J:181920 )

• mislocalization of Purkinje cells

abnormal cerebellar granule layer morphology ( J:181920 )

• defects in foliation and mislocalization of Purkinje cells

decreased cerebellar granule cell number ( J:181920 )

abnormal embryonic/fetal subventricular zone morphology ( J:181920 )

• high levels of DNA damage and elevated apoptosis in the ganglionic eminence at E15.5

growth/size/body

decreased body size ( J:181920 )

postnatal growth retardation ( J:181920 )

cellular

increased neuron apoptosis ( J:181920 )

• elevated apoptosis is detected in the external granule cell layer at E16.5

• high levels of DNA damage and elevated apoptosis in the ganglionic eminence at E15.5

abnormal neuron proliferation ( J:181920 )

• striking decrease in proliferation at E16.5 in the rhombic lip

• decrease in the size and growth of neurospheres indicating a defect in proliferation

decreased cerebellar granule cell precursor proliferation ( J:181920 )

• striking decrease in proliferation at E16.5 in the cerebellar external granule cell layer

Genotype
MGI:5608593

cn181

• Allelic Composition: Ptbp2^tm1.1Dblk/Ptbp2^tm1.1Dblk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:207976 )

• pups die within one hour after birth

homeostasis/metabolism

cyanosis ( J:207976 )

nervous system

abnormal brain white matter morphology ( J:207976 )

• major axonal tracts are absent or diminished

abnormal brain commissure morphology ( J:207976 )

• anterior commissure is absent

abnormal brain internal capsule morphology ( J:207976 )

• axonal fiber tracts in the internal and external capsules are reduced

abnormal olfactory tract morphology ( J:207976 )

• lateral olfactory tract is reduced

Genotype
MGI:5316230

cn182

• Allelic Composition: Atm^tm2Pmc/Atm^tm2Pmc; Atr^tm2Bal/Atr^tm2Bal; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

nervous system

abnormal neuron apoptosis ( J:181920 )

• decrease in apoptosis in the external granule layer and ganglionic eminence compared to mutant mice wild-type for Atm

abnormal nervous system morphology ( J:181920 )

• similar neuropathology to mutant mice wild-type for Atm

cellular

decreased cellular sensitivity to ionizing radiation ( J:181920 )

• resistance to radiation induced DNA damage-induced apoptosis in neural tissues

abnormal neuron apoptosis ( J:181920 )

• decrease in apoptosis in the external granule layer and ganglionic eminence compared to mutant mice wild-type for Atm

Genotype
MGI:5304839

cn183

• Allelic Composition: Ptpn1^tm2Bbk/Ptpn1^tm2Bbk; Ptpn2^tm1.1Ttig/Ptpn2^tm1.1Ttig; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL

homeostasis/metabolism

decreased circulating leptin level ( J:179621 )

• when fed standard chow

increased energy expenditure ( J:179621 )

• when fed standard chow

decreased susceptibility to diet-induced obesity ( J:179621 )

• when fed a high-fat diet

increased oxygen consumption ( J:179621 )

• when fed standard chow

abnormal respiratory quotient ( J:179621 )

• when fed standard chow, respiratory exchange ratio is decreased in the light cycle and increased in the dark cycle compared with wild-type mice

abnormal glucose homeostasis ( J:179621 )

• glucose homeostasis is improved in mice fed a high-fat diet compared to in wild-type mice

decreased circulating glucose level ( J:179621 )

• in fasted mice fed standard chow

increased insulin sensitivity ( J:179621 )

• when fed standard chow

increased response to leptin ( J:179621 )

• whether fed standard chow or a high-fat diet, leptin-treated mice exhibit enhanced leptin sensitivity compared with wild-type mice

growth/size/body

decreased body weight ( J:179621 )

• when fed standard chow

decreased body length ( J:179621 )

• when fed standard chow

decreased susceptibility to diet-induced obesity ( J:179621 )

• when fed a high-fat diet

behavior/neurological

abnormal eating behavior ( J:179621 )

• when fed standard chow

Genotype
MGI:3583775

cn184

• Allelic Composition: Insr^tm1Khn/Insr^tm1Khn; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * SJL

adipose tissue

increased white adipose tissue amount ( J:64790 )

• in females, a two-fold increase in perigonadal adipose tissue is seen

• in males, a 1.5-fold increase in adipose tissue is seen

cellular

oligozoospermia ( J:64790 )

♂ • 30% reduced in epididymal sperm content

behavior/neurological

polyphagia ( J:64790 )

• females exhibit a 20% increase in food intake per gram of body weight

• males did not exhibit any differences in food intake when compared to controls

endocrine/exocrine glands

decreased corpora lutea number ( J:64790 )

♀

decreased tertiary ovarian follicle number ( J:64790 )

♀ • reduced number of antral follicles

abnormal seminiferous tubule morphology ( J:64790 )

♂ • 20% of seminiferous tubules lacked a lumen and had few maturing spermatogonia

♂ • normal seminal vesicles, prostate, and epididymis

decreased Leydig cell number ( J:64790 )

♂

growth/size/body

increased body weight ( J:64790 )

• males do not exhibit weight differences on a standard chow diet, but females exhibit a 10-15% increase over controls

• on a high-fat diet, male mice exhibit a 10% weight increase at 14 weeks of age and females exhibit a 20% increase over controls

homeostasis/metabolism

decreased circulating luteinizing hormone level ( J:64790 )

• 20% of seminiferous tubules lacked a lumen and had few maturing spermatogonia

• normal pituitary morphology and LH content; treatment with lupron indicated that LH is expressed, but not secreted from the pituitary in mutant mice

increased circulating insulin level ( J:64790 )

• at 4-6 months of age, mice exhibit a 1.5 fold increase in circulating insulin levels and females exhibit a 2 fold increase

• normal glucose tolerance

increased circulating leptin level ( J:64790 )

• 2.5 fold increased in females

• 1.5 fold increased in males

• normal cholesterol concentrations

increased circulating triglyceride level ( J:64790 )

• both males and females exhibit a 30% increase in circulating triglycerides

insulin resistance ( J:64790 )

• females exhibit blunted response when injected with insulin and males performed similarly to controls

nervous system

nervous system phenotype ( J:64790 )

N • brain weights and general brain histology appeared similar to controls

reproductive system

decreased corpora lutea number ( J:64790 )

♀

decreased tertiary ovarian follicle number ( J:64790 )

♀ • reduced number of antral follicles

abnormal seminiferous tubule morphology ( J:64790 )

♂ • 20% of seminiferous tubules lacked a lumen and had few maturing spermatogonia

♂ • normal seminal vesicles, prostate, and epididymis

decreased Leydig cell number ( J:64790 )

♂

abnormal spermatogenesis ( J:64790 )

♂ • impaired

oligozoospermia ( J:64790 )

♂ • 30% reduced in epididymal sperm content

reduced male fertility ( J:64790 )

♂

Genotype
MGI:5317892

cn185

• Allelic Composition: Akt1^tm2Mbb/Akt1^tm2Mbb; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * SJL

growth/size/body

growth/size/body region phenotype ( J:182721 )

N • mice fed a high fat diet exhibit normal alternations in body weight and composition

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:182721 )

N • mice fed a high fat diet exhibit normal oxygen consumption

Genotype
MGI:3692537

cn186

• Allelic Composition: Mc4r^tm1Lowl/Mc4r^tm1Lowl; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:115192 )

• mice homozygous for reactivated Mc4r in neurons show normal body weights and rescue of the increased snout-anus length observed in Mc4r^tm1Lowl homozygotes

Genotype
MGI:4441341

cn187

• Allelic Composition: Mapk8^tm1Jcbr/Mapk8^tm1Jcbr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

homeostasis/metabolism

increased circulating triiodothyronine level ( J:158650 )

• in mice fed a standard diet

decreased circulating insulin-like growth factor I level ( J:158650 )

• in fed or fasted mice on a standard diet

decreased circulating growth hormone level ( J:158650 )

• in mice fed a standard diet

increased oxygen consumption ( J:158650 )

• in mice fed a high-fat diet

abnormal glucose homeostasis ( J:158650 )

decreased circulating glucose level ( J:158650 )

• in fasted and fed mice on a high-fat diet

decreased circulating insulin level ( J:158650 )

• in mice fed a standard or high-fat diet

improved glucose tolerance ( J:158650 )

• in mice fed a high-fat diet

increased insulin sensitivity ( J:158650 )

• whether fed a standard or high-fat diet, intracerebroventricular insulin treatment reduces food intake, triggers weight loss, and improves hypothalamic insulin action unlike in similarly treated wild-type mice

• mice fed a high fat diet exhibit improved performance in an insulin tolerance test compared with wild-type mice

increased circulating adiponectin level ( J:158650 )

• in mice fed a high-fat diet

decreased liver triglyceride level ( J:158650 )

• in mice fed a high-fat diet

liver/biliary system

decreased liver triglyceride level ( J:158650 )

• in mice fed a high-fat diet

decreased liver weight ( J:158650 )

• in mice fed a high-fat diet

decreased susceptibility to diet-induced hepatic steatosis ( J:158650 )

• mice fed a high-fat diet exhibit reduced hepatic triglyceride levels compared with similarly treated wild-type mice

growth/size/body

decreased body weight ( J:158650 )

• beginning at 4 weeks, mice fed a standard or high-fat diet exhibit decreased body weight compared with wild-type mice

• however, reduced body weight in response to leptin treatment is normal

weight loss ( J:158650 )

• following intracerebroventricular insulin treatment whether fed a standard or high-fat diet

decreased body length ( J:158650 )

• whether fed a standard or high-fat diet, mice exhibit reduced naso-anal length compared with similarly treated wild-type mice

• mice fed a high-fat diet fail to exhibit as much of an increase in naso-anal length as in wild-type mice

behavior/neurological

decreased food intake ( J:158650 )

• following intracerebroventricular insulin treatment whether fed a standard or high-fat diet

• however, decreased food intake induced by leptin treatment is normal

Genotype
MGI:6220891

cn188

• Allelic Composition: Trpm7^tm1Clph/Trpm7^tm1Clph; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:181963 )

• mice are born in normal Mendelian ratios and survive to adulthood with no differences in overall appearance, size, fertility or behavior relative to control mice

• brain histology is normal at 12 weeks of age, suggesting that late disruption of brain-specific Trpm7 after E10.5 does not affect brain development

Genotype
MGI:3629045

cn189

• Allelic Composition: Insr^tm1Khn/Insr^tm1Khn; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

homeostasis/metabolism

abnormal glucose homeostasis ( J:109359 )

• insulin-induced suppression of hepatic glucose productionas assessed with a euglycemic hyperinsulinemic clamp is attenuated

Genotype
MGI:3764896

cn190

• Allelic Composition: Ptger3^tm1Csml/Ptger3^tm1Csml; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

homeostasis/metabolism

impaired adaptive thermogenesis ( J:127396 )

• unlike wild-type mice, mice exhibit mild hypothermia when injected with PGE3 or LPS

impaired febrile response ( J:127396 )

• fever response induced by LPS and PGE3 is attenuated

Genotype
MGI:3664098

cn191

• Allelic Composition: Ptpn1^tm2Bbk/Ptpn1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:111969 )

• male mice heterozygous for Ptpn1^tm2Bbk show reduced body weight on a high fat diet between 9 and 17 weeks of age compared to Ptpn1-sufficient controls

homeostasis/metabolism

decreased circulating glucose level ( J:111969 )

• mutants have lower fed blood glucose on regular chow and HFD vs controls

decreased circulating insulin level ( J:111969 )

• mutants have lower seurm insulin levels on regular chow and HFD vs controls

Genotype
MGI:3664097

cn192

• Allelic Composition: Ptpn1^tm2Bbk/Ptpn1^tm2Bbk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:111969 )

• male neuronal Ptpn1-deficient mice show significantly reduced body weight on a high fat diet compared to control Ptpn1-sufficient (undeleted Ptpn1^tm2Bbk homozygous) animals between 9 and 17 weeks of age; females show reduced body weight but less markedly so than control female mice on a high fat diet

• neuronal Ptpn1-deficient mice also weigh less than controls when fed a regular chow diet (decrease of 4.5% fat by weight)

decreased susceptibility to diet-induced obesity ( J:179621 )

• when fed a high-fat diet

homeostasis/metabolism

decreased susceptibility to diet-induced obesity ( J:179621 )

• when fed a high-fat diet

decreased circulating glucose level ( J:111969 )

• mutants have lower fed blood glucose on regular chow and HFD vs controls

increased oxygen consumption ( J:111969 )

decreased respiratory quotient ( J:111969 )

• mice display greater oxygen consumption and a decreased respiratory quotient

improved glucose tolerance ( J:111969 )

• male mice at 8-10 weeks of age show enhanced glucose tolerance compared to littermate comtrols

increased insulin sensitivity ( J:111969 , J:179621 )

• male mice at 8-10 weeks of age show improved insulin sensitivity compared to littermate controls (J:111969)

• female mice also show significantly improved insulin sensitivity even though weight at 8 weeks of age is the same as controls; insulin sensitivity and glucose tolerance are similar to whole body deficient Ptpn1^tm1Bbk mice (J:111969)

abnormal hormone level ( J:111969 )

• leptin protein is elevated in white adipose tissue of these mice, suggesting that increased serum leptin levels are due to increased adipocyte leptin production

decreased circulating insulin level ( J:111969 )

• mutants have lower seurm insulin levels on regular chow and HFD vs controls

decreased circulating leptin level ( J:179621 )

increased circulating leptin level ( J:111969 )

• neuronal Ptpn1-deficient mice show increased serum leptin levels (2.3 -fold on a regular chow diet, 4.4-fold higher on a HFD) compared to Ptpn1-undeleted littermates, detected 4 weeks after birth

increased circulating adiponectin level ( J:111969 )

• adiponectin levels are elevated and resistin levels are unexpectedly normal in mutants on regular and HFD diets

decreased triglyceride level ( J:111969 )

• mice show reduced adiposity after high-fat feeding based on lower carcass triglyceride content compared to controls

increased response to leptin ( J:111969 , J:179621 )

• intake is slightly less in mutants than controls (J:111969)

• when treated with leptin twice per day over a 60 hour period, male mice show enhanced suppression of food intake vs controls (J:111969)

• whether fed standard chow or a high-fat diet, leptin-treated mice exhibit enhanced leptin sensitivity compared with wild-type mice (J:179621)

behavior/neurological

decreased food intake ( J:111969 )

♂ • male mice injected with leptin show decreased food intake during the period of treatment compared to controls

abnormal motor capabilities/coordination/movement ( J:111969 )

• neuronal Ptpn1-deficient mice display increased ambulatory movement vs control

skeleton

decreased bone mineral density ( J:111969 )

• when treated with leptin twice per day over a 60 hour period, male mice show reduced bone mineral density

adipose tissue

abnormal fat pad morphology ( J:111969 )

Genotype
MGI:5471750

cn193

• Allelic Composition: Drd2^tm1.1Mrub/Drd2^tm1.1Mrub; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

growth/size/body

postnatal growth retardation ( J:194227 )

♂ • reduced body weight and body length in males

♂ • body length at weaning is reduced 10.2% in males

slow postnatal weight gain ( J:194227 )

♂ • body weight of males is 14.2% lower than controls at 2 months and 21.7% lower at 6 months

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:194227 )

N • prolactin levels are normal

abnormal hormone level ( J:194227 )

• growth hormone releasing hormone (GHRH) levels are reduced 30%

decreased circulating insulin-like growth factor I level ( J:194227 )

• serum levels are reduced 18.7%

decreased growth hormone level ( J:194227 )

• 63.2% reduction in growth hormone in the pituitary

decreased urine major urinary protein level ( J:194227 )

♂ • 45.6% reduction in MUP levels

♂ • male MUP levels are similar to female control levels

decreased physiological sensitivity to xenobiotic ( J:194227 )

• haloperidol fails to induce catatonia

behavior/neurological

behavior/neurological phenotype ( J:194227 )

N • food intake is normal

abnormal social/conspecific interaction behavior ( J:194227 )

♂ • in social dominance tests control C57BL/6 males respond to mutant male mice as if they were females - no social dominance

♂ • resident male C57BL/6 confronted with castrated males swabbed with urine from mutant mice showed reduced aggression

♂ • reduced scent marking of C57NL/6 male mice when placed in cages previously occupied by mutant mice

endocrine/exocrine glands

decreased somatotroph cell number ( J:194227 )

• 28.1% reduction in the number of growth hormone containing cells in the pituitary

renal/urinary system

decreased urine major urinary protein level ( J:194227 )

♂ • 45.6% reduction in MUP levels

♂ • male MUP levels are similar to female control levels

nervous system

decreased somatotroph cell number ( J:194227 )

• 28.1% reduction in the number of growth hormone containing cells in the pituitary

Genotype
MGI:6459277

cn194

• Allelic Composition: Cc2d1a^tm1.1Thkn/Cc2d1a^tm1.1Thkn; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:236761 )

• Background Sensitivity: all mice on a mixed background die within 12 hours of birth compared with mice on a background with increased C57BL/6 that die at birth

respiratory system

respiratory distress ( J:236761 )

• severe in 4 of 12 mice at birth

homeostasis/metabolism

cyanosis ( J:236761 )

• Background Sensitivity: in 4 of 12 mice on a mixed background at birth compared with 5 of 5 mice on a background with increased C57BL/6

Genotype
MGI:5816717

cn195

• Allelic Composition: Adk^tm2Bois/Adk^tm2Bois; Adora2a^tm1Jfc/Adora2a^tm1Jfc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

nervous system

decreased susceptibility to induction of seizure by inducing agent ( J:237189 )

♂ • mice exhibit a resistance to stress-induced (placement in novel environment) seizures

behavior/neurological

behavior/neurological phenotype ( J:237189 )

♂N • mice exhibit normal associative learning and contextual learning

decreased susceptibility to induction of seizure by inducing agent ( J:237189 )

♂ • mice exhibit a resistance to stress-induced (placement in novel environment) seizures

Genotype
MGI:4819394

cn196

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Kcnj11*V59M)Fmas}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

mortality/aging

perinatal lethality, incomplete penetrance ( J:162008 )

• mice, especially females, are born at less than Mendelian frequency

growth/size/body

decreased body weight ( J:162008 )

• trend towards lower body weight

behavior/neurological

impaired balance ( J:162008 )

• impaired balance control at 12 weeks of age

• take three times longer than controls to turn around on a thin rod suspended above the ground, and many fell off while attempting to do so

impaired coordination ( J:162008 )

• fall off a rotating rod earlier than control mice at 12 weeks of age

decreased grip strength ( J:162008 )

• unable to hang as long from an inverted screen or a horizontal bar at 12 weeks of age

hyperactivity ( J:162008 )

• more spontaneous activities than controls at 12 weeks of age

• stay significantly longer than controls in free-running wheels at 12 weeks of age

• run longer distance over a 23-hour period on a free-running wheel

nervous system

abnormal nervous system electrophysiology ( J:162008 )

• more hyperpolarized resting membrane potential of cerebellar Purkinje cells in acute brain slices than in controls

• restored by tolbutamide, a specific inhibitor of KATP channels

abnormal action potential ( J:162008 )

• substantially lower action potential frequency of cerebellar Purkinje cells in acute brain slices in both cell-attached and whole-cell recordings

• restored by tolbutamide

abnormal channel response ( J:162008 )

• the ATP sensitivity of the native muscle ATP-sensitive potassium (KATP) channel is reduced compared with that of control mice in patch-clamp recordings of isolated muscle fibers

muscle

muscle weakness ( J:162008 )

• unable to lift weights as effectively or to hang as long from an inverted screen or a horizontal bar at 12 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
permanent neonatal diabetes mellitus		DOID:0060639	OMIM:606176	J:162008

Genotype
MGI:5431979

cn197

• Allelic Composition: Vps18^tm1.1Wtao/Vps18^tm1.1Wtao; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * SJL

Small size of Vps18^tm1.1Wtao/Vps18^tm1.1Wtao Tg(Nes-cre)1Kln/0 mice at P10

mortality/aging

postnatal lethality, complete penetrance ( J:186307 )

• despite being born at Mendelian ratios, all mice die before P12

nervous system

decreased brain size ( J:186307 )

• especially in the cerebral cortex and cerebellum region

abnormal hippocampus morphology ( J:186307 )

• at P10, the hippocampus losses its morphological structure

abnormal hippocampus CA3 region morphology ( J:186307 )

• at P1, the CA3 region is split into two layers with more loosely associated neurons compared with wild-type mice

abnormal cerebellum morphology ( J:186307 )

• reduced foliation at P1 and P10

small cerebellum ( J:186307 )

• at P1 and P10

neurodegeneration ( J:186307 )

• severe at P10

abnormal neuron physiology ( J:186307 )

• neurons exhibit reduced apoptosis and endocytosis compared with control cells

increased neuron apoptosis ( J:186307 )

abnormal neuronal migration ( J:186307 )

• impaired

growth/size/body

decreased body size ( J:186307 )

• at P10

postnatal growth retardation ( J:186307 )

cellular

abnormal autophagy ( J:186307 )

• dramatically reduced in neurons

increased neuron apoptosis ( J:186307 )

abnormal neuronal migration ( J:186307 )

• impaired

homeostasis/metabolism

abnormal autophagy ( J:186307 )

• dramatically reduced in neurons

Genotype
MGI:7331610

cn198

• Allelic Composition: Tg(Nes-cre)1Kln/0; Unk^{tm1c(KOMP)Wtsi}/Unk^{tm1c(KOMP)Wtsi}
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * SJL

behavior/neurological

behavior/neurological phenotype ( J:309451 )

N • mice show similar locomotor activity in the open field and elevated plus maze as controls, perform similarly to controls in the Y maze and in the Morris water maze indicating normal short-term spatial memory and acquisition learning and reference memory, respectively, and show a non-significant trend towards decreased anxiety

abnormal cognition ( J:309451 )

• in the Morris water maze reversal learning test, mice show reduced latency to find the platform and spend more time in the probe quadrant and turn significantly more acutely towards the probe quadrant indicating enhanced memory formation and cognitive flexibility to re-learn

growth/size/body

decreased body weight ( J:309451 )

• adult mice weigh slightly less than controls

nervous system

nervous system phenotype ( J:309451 )

N • neuroanatomy of the brain appears normal at E16.5 and neurogenesis and overall brain development appears unaffected

N • neuroanatomy of the mature brain appears normal

Genotype
MGI:5545906

cn199

• Allelic Composition: Dab1^tm1Cpr/Dab1^tm1Cpr; Rnf7^{tm1c(EUCOMM)Wtsi}/Rnf7^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * SJL

nervous system

abnormal cortical marginal zone morphology ( J:205551 )

• absent as in Dab1^tm1Cpr homozygotes

abnormal cortical plate morphology ( J:205551 )

• inverted cortical plate as in Dab1^tm1Cpr homozygotes

abnormal cerebellum development ( J:205551 )

• underdeveloped as in Dab1^tm1Cpr homozygotes

Genotype
MGI:5545907

cn200

• Allelic Composition: Dab1^tm1Cpr/Dab1⁺; Rnf7^{tm1c(EUCOMM)Wtsi}/Rnf7^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N * SJL

nervous system

nervous system phenotype ( J:205551 )

N • Purkinje cell positioning and cerebellum size are rescued compared to in Rnf7^{tm1c(EUCOMM)Wtsi}/Rnf7^{tm1c(EUCOMM)Wtsi} Tg(Nes-cre)1Kln mice

Genotype
MGI:3698137

cn201

• Allelic Composition: Rasgrf1^tm4.1Pds/Rasgrf1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * SJL

cellular

cellular phenotype ( J:117666 )

N • loss of paternal repeats does not affect expression of Rasgrf1 in neonatal brain

N • loss of paternal repeats at E11 in the central nervous system does not result in changes to methylation state of the paternal allele, in contrast with deletion earlier in development

Genotype
MGI:5428947

cn202

• Allelic Composition: Id1^tm3Bene/Id1^tm3Bene; Id2^tm1Xdz/Id2⁺; Id3^tm1Zhu/Id3^tm1Zhu; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:185426 )

N • neural stem cells exhibit normal self-renewal and proliferation

Genotype
MGI:5428946

cn203

• Allelic Composition: Id1^tm3Bene/Id1^tm3Bene; Id2^tm1Xdz/Id2^tm1Xdz; Id3^tm1Zhu/Id3^tm1Zhu; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * SJL

mortality/aging

neonatal lethality, incomplete penetrance ( J:185426 )

• nearly all mice die within the first 24 hours after birth

nervous system

abnormal neuron differentiation ( J:185426 )

• at E18.5, neuronal stem cells exhibit altered shape at the apical border compared with control cells

• cultured neural stem cells fail to form primary and secondary neurospheres unlike control cells

premature neuronal precursor differentiation ( J:185426 )

• of neural stem cells in vitro and in vivo as determined by marker expression

abnormal neuronal precursor proliferation ( J:185426 )

• at E18.5, neural stem cell proliferation is reduced with prolonged cell cycle timing and increased probability of exiting the cell cycle compared with control cells

abnormal brain morphology ( J:185426 )

• hypocellular at E18.5 and P0

abnormal cortical ventricular zone morphology ( J:185426 )

• disrupted pseudo-stratified architecture at E18.5

thin external granule cell layer ( J:185426 )

• at E18.5 and P0

enlarged brain ventricles ( J:185426 )

• at E18.5 and P0

cellular

abnormal cell cycle ( J:185426 )

• at E18.5, neural stem cell proliferation is reduced with prolonged cell cycle timing and increased probability of exiting the cell cycle compared with control cells

abnormal neuron differentiation ( J:185426 )

• at E18.5, neuronal stem cells exhibit altered shape at the apical border compared with control cells

• cultured neural stem cells fail to form primary and secondary neurospheres unlike control cells

premature neuronal precursor differentiation ( J:185426 )

• of neural stem cells in vitro and in vivo as determined by marker expression

abnormal neuronal precursor proliferation ( J:185426 )

• at E18.5, neural stem cell proliferation is reduced with prolonged cell cycle timing and increased probability of exiting the cell cycle compared with control cells

Genotype
MGI:4818648

cn204

• Allelic Composition: Ndufs4^tm1Rpa/Ndufs4^tm1Rpa; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * SJL

mortality/aging

premature death ( J:161393 )

• mice die between P35 and P50

nervous system

seizures ( J:161393 )

• seizures increase as disease progresses

environmentally induced seizures ( J:161393 )

• in some mice when handled

tonic-clonic seizures ( J:161393 )

• in some mice

abnormal brain vasculature morphology ( J:161393 )

• vasculature in the vestibular nuclei and posterior cerebellum is increased compared to in wild-type mice

intracranial hemorrhage ( J:161393 )

• at late stages, mice exhibit hemorrhages in the brainstem and occasionally the midbrain unlike in wild-type mice

• mice exhibit a higher frequency of hemorrhage in the midbrain, and of gliosis and spongiform lesions in the anterior cerebellum compared with Ndufs4^tm1.1Rpa homozygotes

brainstem hemorrhage ( J:161393 )

• more often than in Ndufs4^tm1.1Rpa homozygotes

brain vacuoles ( J:161393 )

gliosis ( J:161393 )

• mice exhibit a higher frequency of hemorrhage in the midbrain, and of gliosis and spongiform lesions in the anterior cerebellum compared with Ndufs4^tm1.1Rpa homozygotes

microgliosis ( J:161393 )

astrocytosis ( J:161393 )

optic nerve atrophy ( J:161393 )

• in some mice

spongiform encephalopathy ( J:161393 )

• after P38, mice exhibit spongiform encephalpathy within the vestibular nuclei of the brainstem, inferior olive, fastigial nucleus, caudal cerebellar vermis (nodulus and uvula), and olfactory bulb unlike wild-type mice

• mice exhibit a higher frequency of hemorrhage in the midbrain, and of gliosis and spongiform lesions in the anterior cerebellum compared with Ndufs4^tm1.1Rpa homozygotes

behavior/neurological

lethargy ( J:161393 )

• after P21

abnormal emotion/affect behavior ( J:161393 )

• mice are very submissive and rarely vocalize in response to stress unlike wild-type mice

decreased aggression ( J:161393 )

• mice are docile and not easily provoked compared with wild-type mice

decreased grooming behavior ( J:161393 )

• at late stages, mice groom and scratch rarely unlike wild-type mice

tremors ( J:161393 )

• intermittent

abnormal motor coordination/balance ( J:161393 )

ataxia ( J:161393 )

• starting at P35, mice develop severe ataxia with splayed legs and become unresponsive to a firm nudge unlike wild-type mice

• ataxia worsens between P35 and P50

impaired balance ( J:161393 )

• after P21, mice exhibit deteriorating performance on a balance beam compared with wild-type mice

• starting at P35, mice become unstable, lose their balance, and fall over unlike wild-type mice

• mice are unable to maintain their balance after P40 unlike wild-type mice

impaired coordination ( J:161393 )

• after P21, mice exhibit deteriorating performance on a balance beam compared with wild-type mice

• after P40, mice exhibit deteriorating performance on a rotarod compared with wild-type mice

impaired swimming ( J:161393 )

• in a forced swim test after P21, some mice stall, corkscrew, swim upright, or swim poorly compared with wild-type mice

abnormal posture ( J:161393 )

• mice are sometime prone or unable to remain in a sitting position unlike wild-type mice

trunk curl ( J:161393 )

straub tail ( J:161393 )

• in some mice

tail dragging ( J:161393 )

• in some mice

abnormal gait ( J:161393 )

• after P21, mice exhibit lop-headed, kyphosis, splayed hindlimbs, retropulsion, circling, falling, and difficulty righting unlike wild-type mice

• mice exhibit a progressive deterioration of footprint gait compared with wild-type mice

decreased locomotor activity ( J:161393 )

• mice exhibit reduced nocturnal activity compared with wild-type mice

positive geotaxis ( J:161393 )

• after P40

retropulsion ( J:161393 )

circling ( J:161393 )

abnormal sensory capabilities/reflexes/nociception ( J:161393 )

impaired righting response ( J:161393 )

• slow and awkward starting at P35

hyporesponsive to tactile stimuli ( J:161393 )

• mice are less responsive to handling, touch, and toe pinch than wild-type mice

decreased startle reflex ( J:161393 )

• as mice age

hyperekplexia ( J:161393 )

• in some mice

limb grasping ( J:161393 )

• after P40

abnormal nest building behavior ( J:161393 )

• after middle stage disease, mice exhibit reduced nest building behavior compared with wild-type mice

decreased vocalization ( J:161393 )

• handling, toe pinch, and other stress rarely elicits vocalization unlike similarly treated wild-type mice

seizures ( J:161393 )

• seizures increase as disease progresses

environmentally induced seizures ( J:161393 )

• in some mice when handled

tonic-clonic seizures ( J:161393 )

• in some mice

vision/eye

optic nerve atrophy ( J:161393 )

• in some mice

cataract ( J:161393 )

• in some mice

blepharoptosis ( J:161393 )

• in some mice

abnormal vision ( J:161393 )

• mice exhibit decreased visual acuity measured by Morris water maze, visual cliff test, and visual placing compared with wild-type mice

growth/size/body

decreased body size ( J:161393 )

• at P21

weight loss ( J:161393 )

• between P35 and P50

decreased body length ( J:161393 )

postnatal growth retardation ( J:161393 )

cardiovascular system

abnormal brain vasculature morphology ( J:161393 )

• vasculature in the vestibular nuclei and posterior cerebellum is increased compared to in wild-type mice

intracranial hemorrhage ( J:161393 )

• at late stages, mice exhibit hemorrhages in the brainstem and occasionally the midbrain unlike in wild-type mice

• mice exhibit a higher frequency of hemorrhage in the midbrain, and of gliosis and spongiform lesions in the anterior cerebellum compared with Ndufs4^tm1.1Rpa homozygotes

brainstem hemorrhage ( J:161393 )

• more often than in Ndufs4^tm1.1Rpa homozygotes

decreased heart rate ( J:161393 )

• measured by OxMouse

respiratory system

abnormal breathing pattern ( J:161393 )

• as early as P14, mice exhibit intermittent breathing irregularities including hypo- and hyperventilation and gasping unlike wild-type mice

respiratory distress ( J:161393 )

• intermittent as early as P14

cellular

abnormal respiratory electron transport chain ( J:161393 )

• submitochondrial particles isolated from the liver exhibit little to no complex I activity unlike wild-type samples

• complex I-dependent oxygen consumption in brain tissue is reduced compared to in wild-type mice

• however, mice exhibit normal complex II and IV activity

skeleton

kyphosis ( J:161393 )

homeostasis/metabolism

decreased body temperature ( J:161393 )

• at P30, mice exhibit decreased resting body temperature with spontaneous hypothermia unlike wild-type mice

muscle

abnormal muscle tone ( J:161393 )

• mice exhibit deficient or marked resistance/freezing in either hindlimb unlike wild-type mice

hematopoietic system

microgliosis ( J:161393 )

immune system

microgliosis ( J:161393 )

integument

integument phenotype ( J:161393 )

N • unlike Ndufs4^tm1.1Rpa homozygotes, the hair cycle is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leigh disease		DOID:3652	OMIM:256000	J:161393

Genotype
MGI:2682062

cn205

• Allelic Composition: Ext1^tm1Yama/Ext1^tm1Yama; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:86465 )

• all mice die within 1 day of birth

nervous system

abnormal axon guidance ( J:86465 )

• 60-67% of retinal axons project ectopically into the contralateral optic nerve

• axons from the cortex fail to approach the midline and instead extend ventrally unlike wild-type axons that turn to the midline and cross toward the contralateral side

• axons emerging from the external capsule extend straight toward the ventral surface of the forebrain instead of turning towards the midline to form the anterior commissure

abnormal brain development ( J:86465 )

• differentiation of the caudal midbrain and cerebellum initiated but failed to form the distinct inferior colliculus and cerebellum

abnormal brain commissure morphology ( J:86465 )

• absence of the major commissure tracts

absent corpus callosum ( J:86465 )

absent hippocampal commissure ( J:86465 )

absent anterior commissure ( J:86465 )

absent inferior colliculus ( J:86465 )

abnormal cerebral cortex morphology ( J:86465 )

• overall size and thickness is reduced

• cell proliferation in the cortex is reduced by about 30% compared with controls

thin cerebral cortex ( J:86465 )

absent olfactory bulb ( J:86465 )

absent cerebellum ( J:86465 )

cellular

abnormal axon guidance ( J:86465 )

• 60-67% of retinal axons project ectopically into the contralateral optic nerve

• axons from the cortex fail to approach the midline and instead extend ventrally unlike wild-type axons that turn to the midline and cross toward the contralateral side

• axons emerging from the external capsule extend straight toward the ventral surface of the forebrain instead of turning towards the midline to form the anterior commissure

Genotype
MGI:3652715

cn206

• Allelic Composition: Trp53^tm1Brd/Trp53⁺; Xrcc4^tm2.1Fwa/Xrcc4^tm2Fwa; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:109585 )

N • mice survive beyond 16 months

Genotype
MGI:3652719

cn207

• Allelic Composition: Trp53^tm1Brd/Trp53^tm1Brd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

premature death ( J:109585 )

• 50% of mice are dead by 21-22 weeks

neoplasm

increased tumor incidence ( J:109585 )

• solid tumors are common

increased T cell derived lymphoma incidence ( J:109585 )

• such tumors are common

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:109585 )

• such tumors are common

immune system

increased T cell derived lymphoma incidence ( J:109585 )

• such tumors are common

hematopoietic system

increased T cell derived lymphoma incidence ( J:109585 )

• such tumors are common

Genotype
MGI:3652717

cn208

• Allelic Composition: Trp53^tm1Brd/Trp53^tm1Brd; Xrcc4^tm2.1Fwa/Xrcc4^tm2Fwa; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

premature death ( J:109585 )

• mice become moribund between 12 and 14 weeks of age with 20/23 mice dead by 25 weeks

nervous system

increased medulloblastoma incidence ( J:109585 )

• mice develop medulloblastomas

abnormal cerebellar granule layer morphology ( J:109585 )

• mice at 4 and 8.5 weeks of age show multifocal tumor masses expanding from the granular layer

abnormal cerebellum vermis morphology ( J:109585 )

• at 12-14 weeks mice have aggressive medulloblastomas in the vermis or hemisphere

craniofacial

enlarged cranium ( J:109585 )

• at 12-14 weeks skulls of mice show rapid morphological enlargement

skeleton

enlarged cranium ( J:109585 )

• at 12-14 weeks skulls of mice show rapid morphological enlargement

neoplasm

increased medulloblastoma incidence ( J:109585 )

• mice develop medulloblastomas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
medulloblastoma		DOID:0050902	OMIM:155255	J:109585

Genotype
MGI:5524151

cn209

• Allelic Composition: Stk11^tm1.1Rdp/Stk11^tm1.1Rdp; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:201695 )

N • mice exhibit normal type Ia proprioceptive sensory neuron projections to the ventral horn

Genotype
MGI:5752574

cn210

• Allelic Composition: Bax^tm2Sjk/Bax^tm2Sjk; Scyl2^tm1.1Spel/Scyl2^tm1.1Spel; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

preweaning lethality, incomplete penetrance ( J:225808 )

• fewer than expected mice are present at weaning

growth/size/body

decreased body size ( J:225808 )

behavior/neurological

behavior/neurological phenotype ( J:225808 )

N • mice do not exhibit limb clasping as in Scyl2^tm1.1Spel/Scyl2^tm1.1Spel Tg(Nes-cre)1Kln mice

nervous system

nervous system phenotype ( J:225808 )

N • mice exhibit nor brain abnormalities unlike in Scyl2^tm1.1Spel/Scyl2^tm1.1Spel Tg(Nes-cre)1Kln mice

Genotype
MGI:5469975

cn211

• Allelic Composition: Scyl1^tm1Spel/Scyl1^tm1Spel; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

behavior/neurological

behavior/neurological phenotype ( J:192445 )

N • unlike Scyl1^tm1.1Spel homozygotes, mice do not develop tremors and the majority do not become paralyzed

abnormal motor capabilities/coordination/movement ( J:192445 )

• motor dysfunctions develop more slowly and are not as severe as in Scyl1^tm1.1Spel homozygotes

decreased grip strength ( J:192445 )

• by 4 weeks

abnormal locomotor coordination ( J:192445 )

• posterior waddle by 8 weeks

abnormal gait ( J:192445 )

• by 8 weeks

muscle

muscle phenotype ( J:192445 )

N • unlike Scyl1^tm1.1Spel homozygotes, mice do not develop massive muscle wasting

decreased myocardial fiber size ( J:192445 )

centrally nucleated skeletal muscle fibers ( J:192445 )

nervous system

microgliosis ( J:192445 )

astrocytosis ( J:192445 )

decreased motor neuron number ( J:192445 )

• slight

growth/size/body

decreased body weight ( J:192445 )

postnatal growth retardation ( J:192445 )

skeleton

skeleton phenotype ( J:192445 )

N • unlike Scyl1^tm1.1Spel homozygotes, mice do not develop flattening of the pelvis

cardiovascular system

decreased myocardial fiber size ( J:192445 )

hematopoietic system

microgliosis ( J:192445 )

immune system

microgliosis ( J:192445 )

Genotype
MGI:6415681

cn212

• Allelic Composition: Fgfr2^tm3Cxd/Fgfr2⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

craniofacial

abnormal cranium morphology ( J:286452 )

• in the skull of 4-week old mice, about 5% linear distances are shortened by over 5% but no linear distance is shortened by over 10%

• in the skull of 8-week old mice, about 4% linear distances are increased by over 5%

• the dorsoventral height of caudal skulls is slightly increased and the mediolateral breadth is not affected

• however, mice show no changes in bone volume or bone volume ratio of calvarial bone

short nasal bone ( J:286452 )

• skulls show mildly shortened nasal bone, with the length of the nasal bone decreased by 10% along the rostrocaudal axis in 4-week oldmice but no changes in 8-week old mice

nervous system

abnormal brain size ( J:286452 )

• the rostrocaudal length and dorsoventral height on caudal brain is increased, with a 5.3% increase in dorsoventral height

skeleton

abnormal cranium morphology ( J:286452 )

• in the skull of 4-week old mice, about 5% linear distances are shortened by over 5% but no linear distance is shortened by over 10%

• in the skull of 8-week old mice, about 4% linear distances are increased by over 5%

• the dorsoventral height of caudal skulls is slightly increased and the mediolateral breadth is not affected

• however, mice show no changes in bone volume or bone volume ratio of calvarial bone

short nasal bone ( J:286452 )

• skulls show mildly shortened nasal bone, with the length of the nasal bone decreased by 10% along the rostrocaudal axis in 4-week oldmice but no changes in 8-week old mice

respiratory system

short nasal bone ( J:286452 )

• skulls show mildly shortened nasal bone, with the length of the nasal bone decreased by 10% along the rostrocaudal axis in 4-week oldmice but no changes in 8-week old mice

growth/size/body

short nasal bone ( J:286452 )

• skulls show mildly shortened nasal bone, with the length of the nasal bone decreased by 10% along the rostrocaudal axis in 4-week oldmice but no changes in 8-week old mice

Genotype
MGI:5526848

cn213

• Allelic Composition: Usp7^tm2Wgu/Usp7^tm2Wgu; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:203102 )

• 15 of 21 newborn mice die soon after birth

• all mice die by P1

nervous system

decreased brain size ( J:203102 )

• at E18.5

abnormal forebrain morphology ( J:203102 )

• flat with an almost a right angle at the midbrain junction

decreased forebrain size ( J:203102 )

• at E18.5

enlarged third ventricle ( J:203102 )

• at E18.5

thickened cerebral cortex ( J:203102 )

• at E18.5

absent cerebellum ( J:203102 )

• mostly missing at the midline at E18.5

decreased neuron number ( J:203102 )

• at E18.5

behavior/neurological

absent gastric milk in neonates ( J:203102 )

abnormal motor capabilities/coordination/movement ( J:203102 )

• uncoordinated movement at birth

Genotype
MGI:4831040

cn214

• Allelic Composition: Macf1^tm2.1Liem/Macf1^tm2.2Liem; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:164146 )

• most die within 24 hours of birth due to respiratory insufficiency

• all mice die by 36 hours after birth

nervous system

nervous system phenotype ( J:164146 )

N • mice exhibit normal diaphragm innervation and endplate formation

abnormal neuronal migration ( J:164146 )

• cortical neuronal migration is delayed compared to in mice lacking the cre transgene

• cortical neurons exhibit abnormal positioning in traversing the cortical plate compared to in mice lacking the cre transgene

• however, mice exhibit normal radial glia and inside-out cortical neurons migration

abnormal brain morphology ( J:164146 )

• thalamocortical fibers are less compact and thinner with many axons extending tangentially towards the cortical surface unlike in mice lacking the cre transgene

abnormal lateral ventricle morphology ( J:164146 )

• small and misshaped

small lateral ventricles ( J:164146 )

abnormal hippocampal commissure morphology ( J:164146 )

abnormal anterior commissure morphology ( J:164146 )

abnormal cerebral hemisphere morphology ( J:164146 )

• mice exhibit an abnormal accumulation of cells in the intermediate zone of the dorsal and ventral cerebrum unlike in mice lacking the cre transgene

abnormal dentate gyrus morphology ( J:164146 )

• less compact

abnormal hippocampus pyramidal cell layer ( J:164146 )

• the pyramidal neuronal layer is decreased compared to in mice lacking the cre transgene

• an additional pyramidal layer is positioned outside of the primary pyramidal layer especially in the CA1-CA2 region unlike in mice lacking the cre transgene

• in the caudal regions, the pyramidal cell layer exhibits undulations not observed in mice lacking the cre transgene

ectopic hippocampus pyramidal cells ( J:164146 )

• an additional pyramidal layer is positioned outside of the primary pyramidal layer especially in the CA1-CA2 region unlike in mice lacking the cre transgene

abnormal cerebral cortex morphology ( J:164146 )

• mice exhibit a blurring of the compartmental boundaries in the cortex compared with mice lacking the cre transgene

abnormal stratification in cerebral cortex ( J:164146 )

• at E17.5, mice exhibit disorganization of stratified structures in the cortex with loss of the distinctive tri-laminar appearance compared with mice lacking the cre transgene

• cortical layers are partially mixed unlike in mice lacking the cre transgene

• however, preplate splitting is normal

thin cerebral cortex ( J:164146 )

• the marginal and ventricular zones are thinner than in mice lacking the cre transgene

respiratory system

respiratory distress ( J:164146 )

• most die within 24 hours of birth due to respiratory insufficiency

homeostasis/metabolism

cyanosis ( J:164146 )

cellular

abnormal neuronal migration ( J:164146 )

• cortical neuronal migration is delayed compared to in mice lacking the cre transgene

• cortical neurons exhibit abnormal positioning in traversing the cortical plate compared to in mice lacking the cre transgene

• however, mice exhibit normal radial glia and inside-out cortical neurons migration

Genotype
MGI:3576500

cn215

• Allelic Composition: Irs2^tm1With/Irs2^tm1With; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

homeostasis/metabolism

increased circulating glucose level ( J:97406 )

• fasting blood glucose is moderately increased at 12 weeks and 6 months of age but not increased 4 weeks of age; however mutants do not display overt diabetes

increased circulating insulin level ( J:97406 )

• fasting hyperinsulinemia is seen at 12 weeks and 6 months of age

increased circulating leptin level ( J:97406 )

• at 12 weeks, but not 5 weeks, of age leptin levels are significantly elevated

impaired glucose tolerance ( J:97406 )

• mildly impaired glucose tolerance is seen at 12 weeks and 6 months of age

endocrine/exocrine glands

increased pancreatic beta cell mass ( J:97406 )

• by 12 weeks of age beta cell mass is increased compared to control mice

growth/size/body

increased body weight ( J:97406 )

• body weight is increased by 4 - 5 weeks of age and 20% more by 12 weeks of age compared to controls

increased body length ( J:97406 )

behavior/neurological

polyphagia ( J:97406 )

• at 5 and 12 weeks of age food consumption is increased

adipose tissue

increased total body fat amount ( J:97406 )

• at 16 weeks of age fat mass is significantly increased

Genotype
MGI:6358181

cn216

• Allelic Composition: Mettl14^tm1.1Czhao/Mettl14^tm1.1Czhao; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCrl * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:258043 )

• all mice die within the first neonatal week

nervous system

decreased radial glial cell number ( J:258043 )

• in the cortex at E15.5 and E17.5 due to reduced proliferation

enlarged brain ventricles ( J:258043 )

• at P0

thin cerebral cortex ( J:258043 )

• moderate

• reduced thickness of the Cux1+ layers (II-IV) as early as E17.5

decreased neuron number ( J:258043 )

• reduced late-born neurons within the Cux1+ layers (II-IV) of the cortex as early as E17.5

abnormal glial cell physiology ( J:258043 )

• reduced radial glial cell proliferation at E15.5 and E17.5 due to a disruption in cell cycle progression

• premature radial glial cell differentiation

• however, apoptosis rates are normal

cellular

decreased radial glial cell number ( J:258043 )

• in the cortex at E15.5 and E17.5 due to reduced proliferation

Genotype
MGI:5752573

cn217

• Allelic Composition: Scyl2^tm1.1Spel/Scyl2^tm1.1Spel; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

neonatal lethality, incomplete penetrance ( J:225808 )

• just over half of mice die within 24 h of birth due to malnutrition

reproductive system

priapism ( J:225808 )

• in mice that survive beyond the neonatal period

nervous system

increased neuron apoptosis ( J:225808 )

• of pyramidal CA3 neurons at P4.5, P6.5 and P8.5

• in the granular layer of the cerebellum of P6.5

microgliosis ( J:225808 )

• in the CA3 region

decreased brain size ( J:225808 )

decreased dentate gyrus size ( J:225808 )

• decreased cellularity by P14.5 and P21.5

decreased hippocampus pyramidal cell number ( J:225808 )

• near complete absence of pyramidal CA3 neurons beginning between P6.5 and P8.5

hippocampal neuron degeneration ( J:225808 )

• near complete absence of pyramidal CA3 neurons

• however, CA3 neuron loss is prevented by treatment with MK-801, an irreversible NMDA receptor antagonist

small hippocampus ( J:225808 )

• however, the CA1 region is normal in cellularity

astrocytosis ( J:225808 )

• in the CA3 region

abnormal excitatory postsynaptic potential ( J:225808 )

• decreased field excitatory postsynaptic potential in hippocampal slices

behavior/neurological

abnormal behavior ( J:225808 )

• sensory-motor deficits and abnormal behaviors in mice that survive beyond the neonatal period

abnormal depression-related behavior ( J:225808 )

• depression-like behavior (lower latency to immobility in a tail suspension test) in mice that survive beyond the neonatal period

• however, time spent immobile is normal

limb grasping ( J:225808 )

• in mice that survive beyond the neonatal period

tremors ( J:225808 )

• in mice that survive beyond the neonatal period

decreased grip strength ( J:225808 )

• detected using an inverted cage grid in mice that survive beyond the neonatal period

growth/size/body

decreased body weight ( J:225808 )

• detected at 2 weeks in mice that survive beyond the neonatal period

postnatal growth retardation ( J:225808 )

• detected at 2 weeks in mice that survive beyond the neonatal period

hematopoietic system

microgliosis ( J:225808 )

• in the CA3 region

cellular

increased neuron apoptosis ( J:225808 )

• of pyramidal CA3 neurons at P4.5, P6.5 and P8.5

• in the granular layer of the cerebellum of P6.5

immune system

microgliosis ( J:225808 )

• in the CA3 region

Genotype
MGI:4442808

cn218

• Allelic Composition: Ugcg^tm4Rlp/Ugcg^tm4Rlp; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

behavior/neurological

limb grasping ( J:103415 )

• at 6 months

abnormal gait ( J:103415 )

• aged mice exhibit a labored gait unlike wild-type mice

nervous system

Purkinje cell degeneration ( J:103415 )

• severe at 9 months

• increases with age

Genotype
MGI:4881924

cn219

• Allelic Composition: Sirt1^tm3Fwa/Sirt1^tm3Fwa; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:155802 )

• reduced body weight beginning at 4-5 wk of age

• indistinguishable at birth and for their first month of life

decreased body length ( J:155802 )

• reduced snout-anus body length at 10 wk of age

• normal food consumption

homeostasis/metabolism

decreased circulating glucose level ( J:155802 )

• slight reduction in fasting blood glucose levels in 10-week old mice

• reduced levels of blood glucose throughout the insulin tolerance test (ITT)

• similar performance in glucose tolerance tests, compared with wild-type littermate controls at 3 months of age

abnormal circulating hormone level ( J:155802 )

increased circulating prolactin level ( J:155802 )

• increased serum prolactin

decreased circulating insulin level ( J:155802 )

• trend toward a reduction in fasted insulin levels in 10-week old mice

• similar performance in insulin tolerance tests, compared with wild-type littermate controls at 3 months of age

decreased circulating insulin-like growth factor I level ( J:155802 )

• lower serum insulin-like growth factor I (IGF-1) levels in 10-wk-old mice than in wild-type littermate controls

• no change in serum IGF-1 levels, versus lowered serum IGF-1 levels in wild type after 10 wk of calorie restriction (CR)

decreased circulating growth hormone level ( J:155802 )

• nearly 50% lower serum growth hormone (GH) levels in 4-wk-old mice than in wild-type littermate controls

• normal serum concentrations of adrenocorticotropic hormone, thyroid-stimulating hormone, T3, and T4

impaired glucose tolerance ( J:155802 )

• old mice (10 months) display glucose intolerance

• produce more insulin in response to glucose injection than wild type at 10 months old

increased insulin sensitivity ( J:155802 )

• By ITT, high-fat-fed mice appear to remain somewhat more insulin-sensitive than wild-type mice fed the same diet

• CR induces only a modest improvement in insulin sensitivity

endocrine/exocrine glands

small pituitary gland ( J:155802 )

• smaller pituitaries than those of wild-type littermates

• no major defects upon histological examination

• normal density of GH positive cells

decreased pituitary gland weight ( J:155802 )

• reduced mass of the pituitaries normalized to body mass of 10-wk-old mice

abnormal pituitary gland physiology ( J:155802 )

• each pituitary gland contained significantly less stored GH

behavior/neurological

hyperactivity ( J:155802 )

• more active (on running wheels) than wild-type animals on an ad libitum diet

• no increase and slightly decreased physical activity, versus dramatically up-regulated activity in wild-type animals after 7 mo of CR

nervous system

small pituitary gland ( J:155802 )

• smaller pituitaries than those of wild-type littermates

• no major defects upon histological examination

• normal density of GH positive cells

decreased pituitary gland weight ( J:155802 )

• reduced mass of the pituitaries normalized to body mass of 10-wk-old mice

abnormal pituitary gland physiology ( J:155802 )

• each pituitary gland contained significantly less stored GH

Genotype
MGI:4442419

cn220

• Allelic Composition: Gad1^tm1.1Bgc/Gad1^tm1Rpa; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

craniofacial

cleft secondary palate ( J:158888 )

• at E17.5 in 9 of 11 mice

embryo

umbilical hernia ( J:158888 )

• umbilical hernia is seen at E17.5 in 6 of 11 mice

digestive/alimentary system

cleft secondary palate ( J:158888 )

• at E17.5 in 9 of 11 mice

growth/size/body

cleft secondary palate ( J:158888 )

• at E17.5 in 9 of 11 mice

Genotype
MGI:3803099

cn221

• Allelic Composition: Gli3^tm1Alj/Gli3^tm1Alj; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:137136 )

N • cerebellum normal

abnormal midbrain-hindbrain boundary morphology ( J:137136 )

• isthmus enlarged

enlarged tectum ( J:137136 )

Genotype
MGI:3806277

cn222

• Allelic Composition: Eif2ak4^tm1.1Dron/Eif2ak4^tm1.1Dron; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

behavior/neurological

abnormal food preference ( J:129841 )

• mice have much less of an aversion to diets lacking an essential amino acid

• mice consume more of a leucine-deficient chow after 1 hour compared to wild-type mice that consume almost 30% less

• mice consume under 10% less leucine-deficient chow after 4 hours compared to wild-type mice that consume around 25% less

• similar responses are observed in threonine-deficient diet

Genotype
MGI:3848809

cn223

• Allelic Composition: Zfx^tm1.1Reiz/Zfx^tm1.1Reiz; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:149654 )

♀N • mice survive into adulthood

nervous system

nervous system phenotype ( J:149654 )

♀N • neurogenesis is normal

Genotype
MGI:3713798

cn224

• Allelic Composition: Irs2^tm1With/Irs2^tm1With; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

reproductive system

prolonged diestrus ( J:122064 )

♀ • mildly prolonged diestrus phase

prolonged estrous cycle ( J:122064 )

♀ • extended estrus cycle due to a mildly prolonged diestrus phase

♀ • however, female fertility and fecundity are normal

homeostasis/metabolism

abnormal prolactin level ( J:122064 )

• disestrus pituitary prolactin levels are reduced

Genotype
MGI:4839271

cn225

• Allelic Composition: Tg(Nes-cre)1Kln/0; Trio^tm1Mzhu/Trio^tm1Mzhu
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Growth retardation, ataxia, small brain size, and reduced olfactory bulb size in Trio^tm1Mzhu/Trio^tm1Mzhu Tg(Nes-cre)1Kln/0 mice

mortality/aging

postnatal lethality, complete penetrance ( J:165902 )

• remaining mice die between P5 and P22

neonatal lethality, incomplete penetrance ( J:165902 )

• 90% of mice die within 1 day of birth

nervous system

increased neuron apoptosis ( J:165902 )

• in granule cells

abnormal neuron differentiation ( J:165902 )

• cerebellar granule neurons exhibit impaired neurite growth compared with wild-type cells

• neurite outgrowth is unresponsive to Netrin-1 and Semaphorin 6A induction unlike wild-type cells

• however, neurite ougrowth is normally induced by glutamate and nerve growth factor

abnormal cerebellar granule cell migration ( J:165902 )

• most granules remain outside of the Purkinje cell layer and are randomly at the external granular layer and molecular layer unlike in wild-type mice

• cultured granule cells exhibit decreased migration with random orientations along their abnormal processes compared with similarly treated wild-type mice

abnormal cerebellum external granule cell layer morphology ( J:165902 )

• parallel fibers are thick and non-compact compared to in wild-type mice

• mice lack horizontal beams of parallel fibers in the inner external granule cell layer compared with wild-type mice

abnormal rostral migratory stream morphology ( J:165902 )

• the rostral migratory stream is enlarged compared to in wild-type mice

decreased brain size ( J:165902 )

• at P21

abnormal dentate gyrus morphology ( J:165902 )

abnormal olfactory bulb mitral cell layer morphology ( J:165902 )

• indistinguishable with the internal granule cell layer

small olfactory bulb ( J:165902 )

abnormal Bergmann glial cell morphology ( J:165902 )

• between P8 and P21 glial fibers become progressively sparse unlike in wild-type mice

abnormal cerebellar granule layer morphology ( J:165902 )

• at P0.5, the inner granular layer lacks granule cells compared to in wild-type mice

abnormal cerebellar granule cell morphology ( J:165902 )

• granule cells in the external granule layer exhibit disorganized cell bodies with abnormal organization of parallel fibers compared with wild-type mice

• granules exhibit short and highly branched processes, irregular growth cone with highly branched terminals, and strong filipodia in the axon shaft and the tips of leading process compared with wild-type cells

abnormal cerebellum lobule morphology ( J:165902 )

• some sub-lobules fail to form unlike in wild-type mice

• however, all lobules do form

small cerebellum ( J:165902 )

• at P0.5, P6, and P21

behavior/neurological

absent gastric milk in neonates ( J:165902 )

limb grasping ( J:165902 )

• at P21

ataxia ( J:165902 )

• at P21

growth/size/body

decreased body weight ( J:165902 )

postnatal growth retardation ( J:165902 )

cellular

increased neuron apoptosis ( J:165902 )

• in granule cells

abnormal neuron differentiation ( J:165902 )

• cerebellar granule neurons exhibit impaired neurite growth compared with wild-type cells

• neurite outgrowth is unresponsive to Netrin-1 and Semaphorin 6A induction unlike wild-type cells

• however, neurite ougrowth is normally induced by glutamate and nerve growth factor

abnormal cerebellar granule cell migration ( J:165902 )

• most granules remain outside of the Purkinje cell layer and are randomly at the external granular layer and molecular layer unlike in wild-type mice

• cultured granule cells exhibit decreased migration with random orientations along their abnormal processes compared with similarly treated wild-type mice

Genotype
MGI:3811309

cn226

• Allelic Composition: Xbp1^tm2Glm/Xbp1^tm2Glm; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:131028 )

N • after 139A prion infection, mice show similar survival time (159 days after birth) which is similar to controls (157 days)

nervous system

nervous system phenotype ( J:131028 )

N • mice show no spontaneous neurological dysfunctions (tremors, gait or postural abnormalities, grip strength, paralysis, or body weight changes) between 10 and 22 weeks of age

behavior/neurological

behavior/neurological phenotype ( J:131028 )

N • mice show no spontaneous neurological dysfunctions (tremors, gait or postural abnormalities, grip strength, paralysis, or body weight changes) between 10 and 22 weeks of age

immune system

decreased susceptibility to prion infection ( J:131028 )

• upon prion infection, animals do not exhibit increased neuronal apoptosis compared to uninfected mice

Genotype
MGI:4442809

cn227

• Allelic Composition: Ugcg^tm1Rlp/Ugcg^tm4Rlp; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

behavior/neurological

limb grasping ( J:103415 )

• at 6 months

abnormal gait ( J:103415 )

• aged mice exhibit a labored gait unlike wild-type mice

nervous system

Purkinje cell degeneration ( J:103415 )

• severe at 9 months

• increases with age

Genotype
MGI:5305777

cn228

• Allelic Composition: Gak^tm2Legr/Gak^tm2Legr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:180119 )

• mice die between P3 and P21

nervous system

abnormal neuron differentiation ( J:180119 )

• mice exhibit decreased numbers of neuronal precursors due to reduced proliferation and migration compared with control mice

abnormal neuronal precursor proliferation ( J:180119 )

• reduced

abnormal cortical ventricular zone morphology ( J:180119 )

• at E15.5, cellular density in the forebrain and hindbrain cortex is reduced compared to in control mice

• at P1, mice exhibit reduced cellularity and thickness of the cerebral cortex compared with control mice

abnormal Ammon gyrus morphology ( J:180119 )

• decreased cell density

abnormal dentate gyrus morphology ( J:180119 )

• decreased cell density

decreased neuronal precursor cell number ( J:180119 )

• due to reduced proliferation and migration

behavior/neurological

lethargy ( J:180119 )

• some mice are sluggish at P3

cellular

abnormal neuron differentiation ( J:180119 )

• mice exhibit decreased numbers of neuronal precursors due to reduced proliferation and migration compared with control mice

abnormal neuronal precursor proliferation ( J:180119 )

• reduced

Genotype
MGI:3723507

cn229

• Allelic Composition: Esrrb^tm1.1Nat/Esrrb^tm1.2Nat; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

hearing/vestibular/ear

absent strial marginal cells ( J:124941 )

• loss of strial margenial cells in mutants is observed; this leads to loss of intraepithelial capillaries

increased or absent threshold for auditory brainstem response ( J:124941 )

• ABR thresholds are variably elevated between 1 and 3 months of age

Genotype
MGI:3848803

cn230

• Allelic Composition: Zfx^tm1.1Reiz/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:149654 )

♂N • mice survive into adulthood

nervous system

nervous system phenotype ( J:149654 )

♂N • neurogenesis is normal

Genotype
MGI:5829751

cn231

• Allelic Composition: Ank3^tm3Bnt/Ank3^tm3Bnt; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL/J

mortality/aging

postnatal lethality ( J:218905 )

• mice live up to 20 days

nervous system

abnormal hippocampus neuron morphology ( J:218905 )

• loss of polarity of the proximal axon from hippocampus is observed in 16-20 day old mice

• hippocampal neurons exhibit a complete loss of submembranous fibrillogranular coat

• tight bundling of microtubules is lost

abnormal axon morphology ( J:218905 )

• proximal axon of Purkinje neuron is increased in diameter

• loss of polarity of the proximal axon from hippocampus is observed in 16-20 day old mice

• proximal axons from hippocampal neurons develop dendritic properties such as dendritic spines, however, in culture axon characteristics resume 50-100 um from the soma and distal axon polarity is maintained

abnormal Purkinje cell axon morphology ( J:218905 )

• proximal axon of Purkinje neuron is increased in diameter

abnormal axon initial segment morphology ( J:218905 )

abnormal node of Ranvier morphology ( J:218905 )

• 80% decrease in number of nodes of Ranvier in corpus callosum

• remaining nodes are malformed with greatly increased lengths

abnormal paranodal axoglial junction morphology ( J:218905 )

• increase in isolated (unpaired) paranodal axo-glial junctions

abnormal nervous system electrophysiology ( J:218905 )

abnormal action potential ( J:218905 )

• peak frequency of action potential firing is decreased in cortex and striatum

• single action potentials exhibit an increase in tau for both rise and decay

abnormal brain wave pattern ( J:218905 )

• increase in alpha oscillations in motor cortex as compared to controls

• decrease in cortical gamma oscillations as compared to

Genotype
MGI:4359070

cn232

• Allelic Composition: Aplp2^tm1Dbo/Aplp2^tm1Dbo; App^tm1.1Zhe/App^tm1.1Zhe; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL

nervous system

abnormal neuromuscular synapse morphology ( J:152457 )

• at E16.5, endplate band width and number are increased compared to in wild-type mice but not as severely as in Aplp2^tm1Dbo App^tm1.2Zhe double homozygotes

• at P0, presynaptic and postsynaptic terminal distribution is diffuse and nerve terminal sprouting occurs unlike in wild-type mice that is not as severe as in Aplp2^tm1Dbo App^tm1.2Zhe double homozygotes

abnormal miniature endplate potential ( J:152457 )

• reduced frequency

Genotype
MGI:5431704

cn233

• Allelic Composition: Sptbn1^tm1.1Mnr/Sptbn1^tm1.1Mnr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6J * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:186168 )

• most mice die by P14

• however, some mice survive for more than 5 months

nervous system

abnormal axon initial segment morphology ( J:186168 )

• severely disrupted

Genotype
MGI:3713123

cn234

• Allelic Composition: Atg5^tm1Myok/Atg5^tm1Myok; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

mortality/aging

premature death ( J:110050 )

• some mice die after 3 weeks

nervous system

abnormal brain morphology ( J:110050 )

• ubiquitin-positive inclusions are found in the thalamus pon, medulla, dorsal root ganglion, midbrain, cerebral cortex, hippocampus (especially in CA3 and CA4), striatum and olfactory bulb autophagosomes formation in the brain is impaired

abnormal inferior colliculus morphology ( J:110050 )

• axonal swelling

abnormal thalamus morphology ( J:110050 )

• axonal swelling in the posterior thalamic nucleus

abnormal hippocampus morphology ( J:110050 )

• axonal swelling

abnormal cerebral cortex morphology ( J:110050 )

• axonal swelling

decreased cerebral cortex pyramidal cell number ( J:110050 )

• loss of pyramidal cells in the cerebral cortex

abnormal cerebellar granule cell morphology ( J:110050 )

• apoptosis is detected in granular cells

abnormal axon morphology ( J:110050 )

• axonal swelling in the cerebral cortex, nucleus gracilis, posterior thalamic nucleus, hippocampus, inferior colliculus, tricaudal pons and reticular nucleus

neuron degeneration ( J:110050 )

Purkinje cell degeneration ( J:110050 )

• however, few degenerating Purkinje cells exhibit inclusions

neuronal intranuclear inclusions ( J:110050 )

• ubiquitin-positive inclusions are found in the thalamus pon, medulla, dorsal root ganglion, midbrain, cerebral cortex, hippocampus (especially in CA3 and CA4), striatum and olfactory bulb

• inclusions are time-dependent and are more limited in newborns than in adults

behavior/neurological

abnormal behavior ( J:110050 )

• progressive motor and behavioral deficits after three weeks of age

abnormal suckling behavior ( J:110050 )

abnormal motor capabilities/coordination/movement ( J:110050 )

• progressive motor deficits after three weeks of age including ataxia and a decrease in mean stride length

limb grasping ( J:110050 )

• when suspended by their tails

tremors ( J:110050 )

• at 12 weeks

ataxia ( J:110050 )

impaired coordination ( J:110050 )

• coordination, balance and grip strength are impaired in a rotarod and wire hang task

decreased grip strength ( J:110050 )

• grip strength is impaired in a rotarod and wire hang task

short stride length ( J:110050 )

cellular

abnormal cell physiology ( J:110050 )

• autophagosomes formation in the brain is impaired

growth/size/body

decreased body weight ( J:110050 )

• body weight is about 1.5-times lower than that of wild-type

postnatal growth retardation ( J:110050 )

Genotype
MGI:3830067

cn235

• Allelic Composition: Crk^tm1Cur/Crk^tm1Cur; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:143049 )

• mice weigh 23% less than wild-type mice

postnatal growth retardation ( J:143049 )

nervous system

nervous system phenotype ( J:143049 )

N • mice exhibit normal cerebellum, hippocampus and cerebral cortex morphology

Genotype
MGI:3830068

cn236

• Allelic Composition: Crkl^tm1Cur/Crkl^tm1Cur; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

growth/size/body

decreased body weight ( J:143049 )

• mice weigh 23% less than wild-type mice

postnatal growth retardation ( J:143049 )

nervous system

nervous system phenotype ( J:143049 )

N • mice exhibit normal cerebellum, hippocampus and cerebral cortex morphology

Genotype
MGI:5691953

cn237

• Allelic Composition: Tbp^tm1Xjl/Tbp^tm1Xjl; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

behavior/neurological

impaired coordination ( J:221703 )

♀ • significantly decreased rotarod performance in females older than 12 months

hunched posture ( J:221703 )

• by 22 months

decreased locomotor activity ( J:221703 )

• night time locomotor function reduced in older animals

abnormal nest building behavior ( J:221703 )

• reduced nest building in mice of both sexes

growth/size/body

decreased body size ( J:221703 )

• by 22 months

slow postnatal weight gain ( J:221703 )

• reduced weight gain starting around 12 months

• more prominent in males

nervous system

cerebellum hypoplasia ( J:221703 )

• degeneration of cerebellar cells, particularly Purkinje cells

• cell loss observed at 16 and 23 months but not at 3 months

• losses observed at higher magnifications at 12 months

Genotype
MGI:3830069

cn238

• Allelic Composition: Crk^tm1Cur/Crk^tm1Cur; Crkl^tm1Cur/Crkl^tm1Cur; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

mortality/aging

postnatal lethality ( J:143049 )

• mice require water gel for survival

nervous system

abnormal cortical plate morphology ( J:143049 )

• the preplate fails to split into the marginal zone and the subplate unlike in wild-type mice

• subplate neurons intermingle with cortical plate neurons in a superficial superplate structure unlike in wild-type mice

abnormal cerebellum development ( J:143049 )

• foliation development and layer formation are abnormal

• the boundary between layers is unclear and the granule cells are scattered, particularly in the subcortical region unlike in wild-type mice

• Purkinje cell migration is reduced (41% of cells fail to migrate and 31% migrate partially) compared to in wild-type mice

abnormal cerebellar foliation ( J:143049 )

abnormal hippocampus morphology ( J:143049 )

• cell bodies are scattered in the hippocampus and interspersed among dendrites that are shorter than normal and exhibit abnormal orientations

abnormal dentate gyrus morphology ( J:143049 )

• the dentate gyrus is diffuse, and the separation between the suprapyramidal blade, hilus and infrapyramidal blade is all but gone unlike in wild-type mice

• proliferating subgranule cells are located throughout the dentate gyrus unlike in wild-type mice

abnormal hippocampus pyramidal cell layer ( J:143049 )

• the pyramidal cell layer in CA1 is split, and neurons are scattered with poor discrimination of the stratum oriens, stratum pyramidale, and stratum radiatum

• proliferating subgranule cells are located throughout the dentate gyrus unlike in wild-type mice

abnormal cerebral cortex morphology ( J:143049 )

• laminar structures are absent and cells are distributed randomly

• unlike in wild-type mice, neuronal cell bodies are located below the pial surface

• cortical layering appears to be inverted, as determined by marker expression

• cells infiltrate the marginal zone, the subplate is absent and the superplate structure forms near the pial surface unlike in wild-type mice

• however, ventricular zone cell arrangements are normal

abnormal cerebral cortex pyramidal cell morphology ( J:143049 )

• dendrites of pyramidal neurons are shorter and heterogeneous in orientation in the cerebral cortex unlike in wild-type mice

abnormal Purkinje cell dendrite morphology ( J:143049 )

• only 29% of Purkinje cells reach their final destination and extend shorter, less elaborate dendrites into the reduced molecular layer compared to in wild-type mice

ectopic cerebellar granule cells ( J:143049 )

thin cerebellar molecular layer ( J:143049 )

small cerebellum ( J:143049 )

growth/size/body

decreased body weight ( J:143049 )

• at 2 to 4 weeks, mice weigh 39% to 59% less than wild-type mice

• after weaning, surviving mice are 15% to 29% smaller than wild-type mice by weight

postnatal growth retardation ( J:143049 )

• severe

Genotype
MGI:3609116

cn239

• Allelic Composition: Itgb8^tm1Lfr/Itgb8^tm2Lfr; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * 129X1/SvJ * C57BL/6 * SJL

cardiovascular system

abnormal blood vessel morphology ( J:102190 )

• blood vessels in the brain do not run parallel to the astroglia

abnormal vascular endothelial cell morphology ( J:102190 )

• vessels in the brain develop large irregular endothelial cell clusters

intracranial hemorrhage ( J:102190 )

• at P0 hemorrhages are seen in the dorsal cortex, thalamus, and in the ganglionic eminence near the deep mesencephalic nucleus; however hemorrhages are not seen in adult mutants and no cortical lamination defects are seen in adults

• hemorrhaging is less severe than in mice homozygous for Itgb8^tm1Lfr

nervous system

intracranial hemorrhage ( J:102190 )

• at P0 hemorrhages are seen in the dorsal cortex, thalamus, and in the ganglionic eminence near the deep mesencephalic nucleus; however hemorrhages are not seen in adult mutants and no cortical lamination defects are seen in adults

• hemorrhaging is less severe than in mice homozygous for Itgb8^tm1Lfr

abnormal astrocyte morphology ( J:102190 )

• at E14.5 radial glia near the ganglionic eminence (where hemorrhaging could be seen) are disorganized but those in the developing cortex (where hemorrhages are not yet present) appear normal

• at P0 astroglia appear disorganized and lack the normal parallel organization

• blood vessels in the brain do not run parallel to the astoglia

Genotype
MGI:3662908

cn240

• Allelic Composition: Lhx1^tm1Tmj/Lhx1⁺; Ret^tm1Kln/Ret^tm1Kln; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL

nervous system

abnormal axon guidance ( J:110955 )

• peroneal nerve at E12.5 is rerouted to the path of the tibial nerve

• trajectory of small branch emerging from PN in mutants does not match stereotyped path of dorsal growing PN axons in controls

• phenotype of mice is more severe than in wild-type Lhx1 background

cellular

abnormal axon guidance ( J:110955 )

• peroneal nerve at E12.5 is rerouted to the path of the tibial nerve

• trajectory of small branch emerging from PN in mutants does not match stereotyped path of dorsal growing PN axons in controls

• phenotype of mice is more severe than in wild-type Lhx1 background

Genotype
MGI:3662906

cn241

• Allelic Composition: Ret^tm1Kln/Ret^tm1Kln; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * CBA/J * SJL

nervous system

abnormal innervation pattern to muscle ( J:110955 )

• mutants have peroneal nerves (PN) of reduced length (~40% of control) at E11.5 and nerves are reduced in complexity at E12.5; diameter of peroneal nerve is also reduced

• phenotype at E12.5 is somewhat less severe than in Ret^tm1Kln; Tg(Pgk1-cre)1Lni mice

limbs/digits/tail

clubfoot ( J:110955 )

• clubbed feet are observed in mutants after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
clubfoot		DOID:11836	OMIM:119800	J:110955

Genotype
MGI:4999656

cn242

• Allelic Composition: Gmnn^tm1Tjm/Gmnn^tm1Tjm; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:171716 )

N • mice exhibit normal survival

reproductive system

decreased litter size ( J:171716 )

• slightly

nervous system

nervous system phenotype ( J:171716 )

N • mice exhibit normal neuroanatomy

N • neuron stem cells exhibit normal proliferation and differentiation

N • neurosphere cells exhibit normal DNA replication

behavior/neurological

behavior/neurological phenotype ( J:171716 )

N • mice exhibit normal locomotion, feeding, avoidance behavior, and response to noxious stimuli

Genotype
MGI:4440899

cn243

• Allelic Composition: Bhlhe22^tm2.1Meg/Bhlhe22^tm2.1Meg; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

behavior/neurological

excessive scratching ( J:158273 )

• resulting in skin lesions in most animals

integument

skin lesions ( J:158273 )

• animals display self-inflicted skin lesions

Genotype
MGI:4999657

cn244

• Allelic Composition: Gmnn^tm1Tjm/Gmnn⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

reproductive system

decreased litter size ( J:171716 )

• slightly from male mice

• however, female mice produce normal litters

Genotype
MGI:6275803

cn245

• Allelic Composition: Lgi1^tm2.1Jkc/Lgi1^tm2.1Jkc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

behavior/neurological

seizures ( J:269784 )

• mice develop seizures between P12 and P20

nervous system

seizures ( J:269784 )

• mice develop seizures between P12 and P20

abnormal cerebral cortex morphology ( J:269784 )

• cortical dysplasia

abnormal neocortex morphology ( J:269784 )

• hypercellularity of neuronal cells in layers 2-4

Genotype
MGI:6451067

cn246

• Allelic Composition: Ahr^tm3.1Bra/Ahr^tm3.1Bra; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

nervous system

decreased susceptibility to ischemic brain injury ( J:292713 )

• increased proliferative neural progenitor cells (NPCs) at the ipsilesional neurogenic zones after MCAO

• decreased GFAP-positive astrogliosis and Iba1-positive microgliosis at the peri-infarct cortex after MCAO

• shorter time to remove adhesive from affected forepaws in adhesive removal test, successfully retrieved more pasta pieces in skilled reaching task and explored novel object more than familiar object in novel object recognition test for non-spatial working memory, at 48 h and 7 days after middle cerebral artery occlusion (MCAO)

abnormal glial cell morphology ( J:292713 )

• decreased GFAP-positive astrogliosis and Iba1-positive microgliosis at the peri-infarct cortex after MCAO

increased neuronal precursor cell number ( J:292713 )

• increased proliferative neural progenitor cells (NPCs) at the ipsilesional neurogenic zones after MCAO

homeostasis/metabolism

decreased susceptibility to ischemic brain injury ( J:292713 )

• increased proliferative neural progenitor cells (NPCs) at the ipsilesional neurogenic zones after MCAO

• decreased GFAP-positive astrogliosis and Iba1-positive microgliosis at the peri-infarct cortex after MCAO

• shorter time to remove adhesive from affected forepaws in adhesive removal test, successfully retrieved more pasta pieces in skilled reaching task and explored novel object more than familiar object in novel object recognition test for non-spatial working memory, at 48 h and 7 days after middle cerebral artery occlusion (MCAO)

Genotype
MGI:3665562

cn247

• Allelic Composition: Gli2^tm1Alj/Gli2^tm6Alj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL * Swiss Webster

nervous system

abnormal cerebellar foliation ( J:108507 )

• foliation occurs to a greater extent, with the vermis having a more defined intercrural structure and thicker IGL than in Gli2;En1 conditional knockouts

Genotype
MGI:6382637

cn248

• Allelic Composition: Tmem30a^tm1.1Xjz/Tmem30a^tm1.1Xjz; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129/SvEv * C57BL/6 * SJL

mortality/aging

embryonic lethality, complete penetrance ( J:253580 )

Genotype
MGI:5636606

cn249

• Allelic Composition: Pex13^tm1Crne/Pex13^tm1.1Crne; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129T2/SvEms * C57BL/6 * C57BL/6J * SJL

mortality/aging

premature death ( J:167578 )

• 70.5% of mice die by 5 weeks of age, while 29.5% of mice die between 9-26 weeks of age

• body weight at time of weaning and litter size impact survival of mutants

growth/size/body

decreased body weight ( J:167578 )

• mice that die by 5 weeks of age exhibit a lower body weight than mice that survive to 9-26 weeks of age

weight loss ( J:167578 )

• 29.5% of mice show post-weaning onset of weight loss and die between 9-26 weeks of age

postnatal growth retardation ( J:167578 )

• 70.5% of mice exhibit growth retardation during the pre-weaning period and die by 5 weeks of age

behavior/neurological

abnormal reflex ( J:167578 )

• mice at P20 exhibit a delay in the pattern of acquisition of the majority of tested behaviors (negative geotaxis, cliff avoidance, vibrissa placing, grasp reflex, hyperkinesias, crossed extensor, acceleration righting and bar holding) with gradual improvement, suggesting a delay rather than ablation of reflex development

limb grasping ( J:167578 )

• mice exhibit an inability to splay hind limbs when lifted by the tail

impaired coordination ( J:167578 )

• 7 of 11 mice show impaired performance on the rotarod, which is still seen at P30

cellular

abnormal Purkinje cell differentiation ( J:167578 )

abnormal cerebellar granule cell migration ( J:167578 )

• by P15, migration of granule cells from the external granule layer through the molecular layer to the internal granule layer is delayed

homeostasis/metabolism

abnormal fatty acids level ( J:167578 )

• very-long-chain-fatty acid levels (C26:0/C22:0 ratio) in the brain are normal, however the C24:0/C22:0 ratio is reduced by 40%

decreased brain plasmalogen level ( J:167578 )

• levels of brain C16:0 and C18:0 plasmalogens are reduced 20- and 40-fold, respectively in the brain

increased plasmalogen level ( J:167578 )

• levels of liver C16:0 plasmalogens are elevated 3-fold and C18:0 plasmalogens are slight increased

abnormal enzyme/coenzyme activity ( J:167578 )

• brain peroxisomal enzymes dihydroxyacetone phosphate acyltransferase (DHAP-AT) and alkyl-DHAP synthase are reduced

• 5-fold increase in liver DHAP-AT activity

nervous system

abnormal cerebellar granule cell migration ( J:167578 )

• by P15, migration of granule cells from the external granule layer through the molecular layer to the internal granule layer is delayed

decreased brain plasmalogen level ( J:167578 )

• levels of brain C16:0 and C18:0 plasmalogens are reduced 20- and 40-fold, respectively in the brain

abnormal cerebellum development ( J:167578 )

• formation of cerebellar layers is delayed

reduced cerebellar foliation ( J:167578 )

• at P20, mutants show only partial development of the declival, intercrural and uvular fissures and impaired cerebellum foliation persists beyond P20, until at least P30

abnormal cerebellum external granule cell layer morphology ( J:167578 )

• the external granule layer is thicker at P15 and still is more evident at P20, the internal granule layer is thinner at P20, and the molecular layer is thinner at P20 and P30

abnormal cerebellar Purkinje cell layer ( J:167578 )

• mutants do not exhibit a distinct Purkinje cell monolayer and show only small dendritic processes without forming a main dendrite at P5

• at P10, Purkinje cell somata are not aligned in a strict monolayer and small dendritic processes and spines arise randomly

abnormal Purkinje cell morphology ( J:167578 )

• total length of Purkinje cells is decreased at P15, P20, and P30

abnormal Purkinje cell differentiation ( J:167578 )

abnormal Purkinje cell dendrite morphology ( J:167578 )

• at P10, Purkinje cells show two main dendritic processes, the degree of branching is irregular and less complex, and dendrites are not in parallel alignment

thin cerebellar molecular layer ( J:167578 )

• thinner at P20 and P30

abnormal cerebellum fissure morphology ( J:167578 )

• some mutants at P10 lack the declival, intercrural and uvular fissures that develop in controls and show shallower intercrural, precentral, primary, and prepyramidal fissures

• by P15, the declival, intercrural and uvular fissures have still not formed in some mutants and P20 mutants show shallower declival, intercrural, uvular and posterolateral fissures

gliosis ( J:167578 )

• reactive gliosis in the cerebellum, cortex, and brain stem

astrocytosis ( J:167578 )

skeleton

kyphosis ( J:167578 )

• older mice exhibit a hunchback posture

Genotype
MGI:6790222

cn250

• Allelic Composition: Ano3^tm1.1Lyj/Ano3^tm1.1Lyj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6

behavior/neurological

environmentally induced seizures ( J:310618 )

• mice exhibit increased susceptibility to hyperthermia-induced seizure, with mice reaching phase 4 (tonic convulsions with loss of consciousness) seizures at lower core temperature than wild-type mice and heat exposure causing their core temperature to increase more rapidly

• however, merely raising the ambient temperature to 37 degrees Celsius is not sufficient to induce seizures

homeostasis/metabolism

abnormal body temperature homeostasis ( J:310618 )

• P11 mice exhibit lower core temperature at ambient temperature of 22 or 30 degrees C, but core temperature is comparable to wild-type controls when the ambient temperature is held at 37 degrees C and during the following recovery period at 22 degrees C, indicating that pups experience a more rapid increase of core temperature than wild-type littermates when the ambient temperature is raised from 30 degrees C to 37 degrees C

nervous system

environmentally induced seizures ( J:310618 )

• mice exhibit increased susceptibility to hyperthermia-induced seizure, with mice reaching phase 4 (tonic convulsions with loss of consciousness) seizures at lower core temperature than wild-type mice and heat exposure causing their core temperature to increase more rapidly

• however, merely raising the ambient temperature to 37 degrees Celsius is not sufficient to induce seizures

Genotype
MGI:3044600

cn251

• Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * SJL

cellular

abnormal apoptosis ( J:90392 )

• at E10 the total number of apoptotic cells and relative percentage of apoptotic cells to progenitor cells in the forebrain-midbrain junction is significantly reduced compared to littermate controls

nervous system

increased neuron number ( J:90392 )

• the number of postmitotic neurons is increased in the telencephalon at E11.5 - 12.5 compared to littermate controls

Genotype
MGI:3703619

cn252

• Allelic Composition: Itgb1^tm1Lscd/Itgb1^tm1Mll; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

mortality/aging

premature death ( J:71122 )

• majority of mutants die prematurely at varying ages during adulthood

neonatal lethality, complete penetrance ( J:71122 )

• a small fraction of mutants die shortly after birth

growth/size/body

postnatal growth retardation ( J:71122 )

• mutants grow more slowly than controls

nervous system

abnormal cortical marginal zone morphology ( J:71122 )

• perturbed cortical marginal zone, where the anchorage of glial endfeet, the remodeling of basement membrane, and the extension of the meningeal cell layer are perturbed

abnormal Cajal-Retzius cell morphology ( J:71122 )

• at E15.5, small gaps in the Cajal-Retzius cell layer are seen; defects get worse with age such that Cajal-Retzius neurons form ectopia within the cortical wall and cell bodies are randomly oriented

abnormal cerebral cortex morphology ( J:71122 )

• cerebral cortical hemispheres are reduced in size and fused at the midline

• the layers of the cerebral cortex have a wavy appearance at E15.5

• cortical neurons invade the marginal zone in some areas and accumulate deep in the cortical wall

• at P2, layers I-IV and sometimes layer V are disrupted

• cell bodies of cortical neurons are less tightly packed within cortical layers

abnormal cerebellum morphology ( J:71122 )

abnormal cerebellum development ( J:71122 )

• a large number of granule cells form ectopia along the fusion lines of adjacent folia and at the cerebellar surface underlying the meninges

abnormal cerebellar foliation ( J:71122 )

• development of cerebellar folia is defective, with mutants exhibiting fusion between adjacent folia

• with age, folia become progressively more distorted with decreased depth of the folia

abnormal cerebellum vermis morphology ( J:71122 )

• the vermis lacks fissures

small cerebellum ( J:71122 )

• reduction in cerebellum size with age

abnormal CNS glial cell morphology ( J:71122 )

• glial fibers in cortical sections between E18.5 and P14 do not develop glial endfeet but terminate at varying positions within the marginal zone close to the meningeal layer

• glial endfeet are absent at the surface of the cerebellum and within the folia, glial fibers occasionally invade the granule cell layer but do not form expanded endfeet at any age

abnormal meninges morphology ( J:71122 )

• the meningeal cell layer does not extend into the developing cerebellar folia and between the cortical hemispheres

• remodeling of the meningeal basement membrane is defective starting at E15.5 and becomes progressively worse such that by P7, extracellular matrix molecules are absent from areas of the brain surface underlying the meninges

vision/eye

abnormal eyelid morphology ( J:71122 )

• mutants exhibit partially closed eyes

behavior/neurological

ataxia ( J:71122 )

Genotype
MGI:3720627

cn253

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:106707 )

• mice die between 2 and 3 weeks after birth

nervous system

abnormal neuron differentiation ( J:106707 )

• apical-junctional complexes and cell polarity is lost in neuronal progenitor cells

• some cells are non-polarized, round and loosely connected to each other

• at E13.5, neuronal progenitor cells have shorter cell cycles

• however, treatment with cyclopamine rescues normal cell cycling

abnormal brain morphology ( J:106707 )

• mice brains are dysplastic

• ventricular cells are scattered throughout the developing brain forming invasive tumor-like masses that displayed widespread pseudopalisading and the formation of rosettes

abnormal brain development ( J:106707 )

• starting at E13.5, embryonic brains are hyperplastic with twice as many cells at birth compared to in wild-type brains

• however, hyperplasia can be reversed by treating embryos with cyclopamine

increased brain weight ( J:106707 )

• brain weight and brain-weight-relative-to-body-weight are increased

abnormal lateral ventricle morphology ( J:106707 )

• the lateral ventricle is shifted posteriorly and ventrally

thickened cerebral cortex ( J:106707 )

• at E13.5, size and thickness of the cortex is increased

• apoptosis in the cortex is reduced by half

• however, treatment with cyclopamine rescues increased apoptosis rates

growth/size/body

megacephaly ( J:106707 )

• mice are born with enlarged heads

postnatal growth retardation ( J:106707 )

• despite mice having large heads that continue to grow, their bodies exhibit growth retardation

cellular

abnormal mitosis ( J:106707 )

• at E13.5, neuronal progenitor cells have shorter cell cycles

• however, treatment with cyclopamine rescues normal cell cycling

abnormal neuron differentiation ( J:106707 )

• apical-junctional complexes and cell polarity is lost in neuronal progenitor cells

• some cells are non-polarized, round and loosely connected to each other

• at E13.5, neuronal progenitor cells have shorter cell cycles

• however, treatment with cyclopamine rescues normal cell cycling

Genotype
MGI:3844934

cn254

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:147427 )

• animals die by the end of the first postnatal day (P0)

nervous system

increased brain size ( J:147427 )

• in all embryos, brain size is larger than in controls, especially in the dorsal telencephalon

abnormal thalamus morphology ( J:147427 )

• based on cell fate analysis and molecular marker analysis, the intergeniculate leaflet (IGL) nucleus is expanded caudodorsally along the surface of the diencephalon at E16.5

abnormal lateral geniculate nucleus morphology ( J:147427 )

• based on cell fate analysis and molecular marker analysis, the dorsal lateral geniculate (dLG) nucleus is expanded caudodorsally along the surface of the diencephalon at E16.5

Genotype
MGI:3789472

cn255

• Allelic Composition: Itgb1^tm1Mll/Itgb1^tm1Mll; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

nervous system

abnormal neuronal precursor cell migration ( J:120076 )

• cultured neuroblasts fail to form a chain and migrate as single cells unlike wild-type neuroblasts

• glial tube integrity is perturbed and neuroblasts migrate ectopically into the tissue surrounding the rostral migratory stream

abnormal rostral migratory stream morphology ( J:120076 )

• the rostral migratory stream is less compact than in wild-type mice and cells do not form chains as in wild-type mice

• neuroblasts within the rostral migratory stream are more dispersed than in wild-type mice and only occasionally for contacts with each other

• glial tube integrity is perturbed and neuroblasts migrate ectopically into the surrounding tissue

small olfactory bulb ( J:120076 )

• the olfactory bulb is reduced in size due to a reduction in cell migration from the subventricular zone to the olfactory bulb

cellular

abnormal neuronal precursor cell migration ( J:120076 )

• cultured neuroblasts fail to form a chain and migrate as single cells unlike wild-type neuroblasts

• glial tube integrity is perturbed and neuroblasts migrate ectopically into the tissue surrounding the rostral migratory stream

Genotype
MGI:3844949

cn256

• Allelic Composition: Smo^tm2Amc/Smo^tm2Amc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

nervous system

abnormal thalamus morphology ( J:147427 )

Genotype
MGI:5829760

cn257

• Allelic Composition: Ank3^tm2.1Bnt/Ank3^tm2.1Bnt; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL/J

mortality/aging

perinatal lethality ( J:218905 )

• mice die immediately after birth

nervous system

abnormal axon morphology ( J:218905 )

• proximal axon develops dendritic properties such as dendritic spines, however, in hippocampal cultures axon characteristics resume 50-100 um from the soma

Genotype
MGI:6307059

cn258

• Allelic Composition: Celf2^tm1Yjin/Celf2^tm1Yjin; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: BALB/c * C57BL/6 * SJL

nervous system

abnormal neuron physiology ( J:269731 )

• in an in vitro regeneration assay, adult dorsal root ganglia exhibit defective regeneration compared with control mice

growth/size/body

decreased body size ( J:269731 )

Genotype
MGI:5306353

cn259

• Allelic Composition: Kitl^tm2.1Sjm/Kitl^tm2.2Sjm; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: BALB/cJ * C57BL/6 * C57BL/Ka * SJL

hematopoietic system

hematopoietic system phenotype ( J:180431 )

N • mice exhibit normal blood cell counts, bone marrow composition, bone marrow and spleen cellularity, and reconstitution capacity

N • unlike Kitl^tm2.2Sjm heterozygotes, mice exhibit normal numbers of hematopoietic stem cells in the spleen

Genotype
MGI:5285556

cn260

• Allelic Composition: Foxj1^tm1.1Ctk/Foxj1^tm1.2Ctk; Tg(FOXJ1-EGFP)85Leo/0; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C3H * C57BL/6 * C57BL/6J * SJL

nervous system

abnormal neuron differentiation ( J:174694 )

• postnatal radial glial progenitors fail to organize into clusters unlike in wild-type mice

• neural stem cells fail to form ependymal niches unlike in wild-type mice

• however, RC2+ radial glial cells transition into neural stem cells

cellular

abnormal neuron differentiation ( J:174694 )

• postnatal radial glial progenitors fail to organize into clusters unlike in wild-type mice

• neural stem cells fail to form ependymal niches unlike in wild-type mice

• however, RC2+ radial glial cells transition into neural stem cells

Genotype
MGI:6474216

cn261

• Allelic Composition: Pqbp1^tm1.1Hiok/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J

growth/size/body

microcephaly ( J:279053 )

♂ • males exhibit obvious microcephaly at 2 months of age

♂ • intraperitoneal injection of a PQBP1-AAV vector in pregnant mothers at E10 rescues the microcephaly phenotype at 10 weeks of age

nervous system

nervous system phenotype ( J:279053 )

♂N • macroscopically, adult brains show normal cortical, subcortical and brain stem structures

♂N • at the histological level, cortical layer structures are well preserved in both adult and embryonic brains

♂N • at P90, two-photon microscopy revealed no significant changes in single-cell volume and total dendrite length of a neuron (retrosplenial dysgranular cortex, layer V) relative to control mice

♂N • no increased neurogenesis from the neural stem progenitor cell (NSPC) pool is observed at E15 by co-staining with BrdU and Ki67

♂N • levels of cell death in the cerebral cortex are normal at E10, E15, E18, P0 and P60 as assessed by TUNEL staining

decreased brain size ( J:279053 )

♂ • at 2 months of age, males show a significant reduction in brain size relative to control mice

decreased brain weight ( J:279053 )

♂ • at 2 months of age, males show a significant reduction in brain weight relative to control mice

♂ • intraperitoneal injection of a PQBP1-AAV vector in pregnant mothers at E10 results in a significant increase in brain weight at 10 weeks of age with preserved cortical structures

abnormal hippocampus CA1 region morphology ( J:279053 )

♂ • at 2 months of age, males show a significant reduction in CA1 pyramidal layer thickness relative to control mice

abnormal dentate gyrus morphology ( J:279053 )

♂ • at 2 months of age, males show a significant reduction in both the molecular and granular cell layer thickness of the dentate gyrus relative to control mice

abnormal hippocampus pyramidal cell layer ( J:279053 )

♂ • at 2 months of age, males show a significant reduction in CA1 pyramidal layer thickness relative to control mice

thin cerebral cortex ( J:279053 )

♂ • cortical layer thickness is decreased in both adult and embryonic brains

♂ • notably, thickness of the telencephalon is already decreased at E10

abnormal neuronal stem cell morphology ( J:279053 )

♂ • size of the stem cell pool is already small at E10, when neurogenesis has not yet started

♂ • after E11, when neuroepithelial cells start switching from symmetric proliferative to asymmetric neurogenic division, delayed cell cycle time keeps both apical progenitor (AP) and basal progenitor (BP) stem cell pools equally reduced at E15

♂ • reduction of stem cell pool leads to a decrease in the number of differentiated neurons

cellular

abnormal cell cycle ( J:279053 )

♂ • at E14, total cell cycle time (Tc) of neural stem progenitor cells (NSPCs) is increased (+2.2 h, +12%), primarily due to a longer M phase

abnormal cell cycle checkpoint function ( J:279053 )

♂ • at E14, a significant extension of the G2/M phase (+67%) and a slight extension of G1 (+6%) are observed in NSPCs; however, the S phase (Ts) of NSPCs is normal

♂ • expression profiles of NSPCs revealed significant changes in gene groups that control the M phase, including anaphase-promoting complex genes, via aberrant transcription and RNA splicing

♂ • exogenous Anapc4 (aka Apc4), a hub protein in the network of affected genes, results in recovery of the cell cycle, proliferation, and cell phenotypes of NSPCs

abnormal mitosis ( J:279053 )

♂ • at E14, the M phase of NSPCs is markedly increased (+1.4 h, +67%) while the length of the G2 phase is unchanged

♂ • no abnormal centrosomes or mitotic spindles are detected, and the percentage of asymmetric cell division is normal

behavior/neurological

impaired cued conditioning behavior ( J:279053 )

♂ • at 3 months of age, males exhibit a significant reduction of total freezing time (%) in a fear conditioning test relative to control mice

♂ • intraperitoneal injection of a PQBP1-AAV vector in pregnant mothers at E10 results in partial but significant recovery of the freezing response at 10 weeks of age

impaired balance ( J:279053 )

♂ • at 3 months of age, males exhibit significantly less time spent on the rotarod than control mice on Day 1, 2 and 3

♂ • intraperitoneal injection of a PQBP1-AAV vector in pregnant mothers at E10 results in a significant increase of time spent on the rotarod on Day 3 at 10 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Renpenning syndrome		DOID:0060179	OMIM:309500	J:279053

Genotype
MGI:6474219

cn262

• Allelic Composition: Pqbp1^tm1.1Hiok/Pqbp1⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J

nervous system

decreased brain size ( J:279053 )

♀ • at 2 months of age, females show only a slight reduction in brain size with no significant changes in brain weight relative to control mice

Genotype
MGI:7494277

cn263

• Allelic Composition: Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6N * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:242933 )

• born at expected Mendelian ratios but only only 2 mice survived to P21

nervous system

abnormal cerebellar foliation ( J:242933 )

• highly irregular foliation with apparently misdirected folia

• vermis folia IV-V and IX extend abnormally into the lateral hemispheres

• at P14 irregular foliation includes the expansion of vermis lobules IV-V and IX into the hemispheres

decreased brain size ( J:242933 )

• in surviving mice at P21

ectopic cerebellar granule cells ( J:242933 )

• ectopic clusters of granule cells around clusters of Purkinje cells

abnormal cerebellum fissure morphology ( J:242933 )

• at P0 the vermis hypoplasia is associated with failure to initiate the formation of most of the cardinal cerebellar fissures

abnormal cerebellum vermis lobule morphology ( J:242933 )

• at P0 the vermis hypoplasia is associated with failure to initiate the formation of most of the cardinal cerebellar fissures

abnormal cerebellum vermis lobule IV morphology ( J:242933 )

abnormal cerebellum vermis lobule V morphology ( J:242933 )

abnormal cerebellum vermis lobule IX morphology ( J:242933 )

cerebellum vermis hypoplasia ( J:242933 )

• at P0, hypoplasia is most clearly present in the cerebellar vermis

small cerebellum ( J:242933 )

• disproportionate reduction in cerebellar size at P21

cerebellum hypoplasia ( J:242933 )

• pronounced hypoplasia of all cerebellar lobules in the vermis

• hypoplastic cerebellar hemispheres

• growth retardation is first evident at E16.5

growth/size/body

decreased body size ( J:242933 )

• survivors are smaller than control littermates

Genotype
MGI:5770262

cn264

• Allelic Composition: Gys1^{tm1c(EUCOMM)Wtsi}/Gys1^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6N * SJL
• Cell Lines: EPD0069_4_A05

homeostasis/metabolism

decreased brain glycogen level ( J:218886 )

♂ • glycogen levels are nearly absent in brain extracts

nervous system

nervous system phenotype ( J:218886 )

♂N • at 5 months of age, male mice exhibit normal brain morphology, as shown by histologic analyses of the cortex, cerebellum and hippocampus with neuronal and astrocytic markers

decreased brain glycogen level ( J:218886 )

♂ • glycogen levels are nearly absent in brain extracts

impaired synaptic plasticity ( J:218886 )

♂ • analysis of fEPSPs evoked at the hippocampal CA3-CA1 synapse during the learning process in Skinner box modules revealed a significantly smaller change in synaptic strength relative to control mice

reduced long-term potentiation ( J:218886 )

♂ • after a high frequency stimulation session, mice fail to present any significant LTP evoked in the CA3-CA1 synapse on the first recording day, unlike control mice

♂ • LTP values are significantly smaller and shorter lasting than those of control mice

enhanced paired-pulse facilitation ( J:218886 )

♂ • in response to paired pulses of increasing intensity, mutant hippocampal pyramidal CA1 neurons exhibit a larger facilitation (greater fEPSP slope) to the second pulse than control mice; however, similar increases in fEPSP slope are evoked by the first pulse

♂ • mice exhibit a significantly larger facilitation to paired pulses, especially at short interpulse intervals

behavior/neurological

abnormal operant conditioning behavior ( J:218886 )

♂ • mice exhibit significantly impaired performance in an operant conditioning task (Skinner box)

Genotype
MGI:7767876

cn265

• Allelic Composition: Trim71^tm1695Arte/Trim71^tm1695Arte; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6NTac * SJL

nervous system

abnormal neuron proliferation ( J:335575 )

• subventricular zone neural proliferation is reduced in hydrocephalic mice at P0

hydrocephaly ( J:335575 )

cerebral aqueductal stenosis ( J:335575 )

• P0 hydrocephalic mice exhibit patency of the midbrain cerebral aqueduct (aqueductal stenosis)

• however, ependymal and choroid plexus cells appear morphologically normal in P0 hydrocephalic mice

enlarged brain ventricles ( J:335575 )

• approximately 16% of mice exhibit ventriculomegaly

thin cerebral cortex ( J:335575 )

• hydrocephalic mice exhibit a thinned cerebral cortex at P0 with reduced thickness of the superficial and deep cortical layers

decreased neuron number ( J:335575 )

• marker analysis shows reduced numbers of neurons in cortical layers in hydrocephalic mice at P0

cellular

abnormal neuron proliferation ( J:335575 )

• subventricular zone neural proliferation is reduced in hydrocephalic mice at P0

Genotype
MGI:7624363

cn266

• Allelic Composition: Fars2^em3Chenk/Fars2^em3Chenk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:339244 )

• born with a slight purple color and die shortly after birth

nervous system

decreased brain weight ( J:339244 )

• brain weight but not volume is reduced

enlarged brain ventricles ( J:339244 )

• at E17.5

abnormal cerebral cortex morphology ( J:339244 )

• red lesions present of the cortex of neonates

loss of cortex neurons ( J:339244 )

• scattered apoptotic cells are seen at E14.5 in the dorsal and ventral cortices, with more widespread cells detected at E17.5

thin cerebral cortex ( J:339244 )

• at E17.5

• at E15.5 all formed layers of the cortex are thinner

cellular

abnormal cell morphology ( J:339244 )

• significantly lower total NAD pool level in the cortex rpimarily due to reduced NAD+ level in the mitochondria

decreased cellular ATP level ( J:339244 )

abnormal mitochondrial crista morphology ( J:339244 )

• linearized and forms various geometric shapes

• the phenotype deteriorates overtime

increased apoptosis ( J:339244 )

• scattered apoptotic cells are seen at E14.5 in the dorsal and ventral cortices, with more widespread cells detected at E17.5

abnormal mitochondrial physiology ( J:339244 )

• expression analysis indicates mitochondrial protein biosynthesis is disrupted with reduced levels of complexes CI and CIV at E14.5 and E17.5

• however, no change in mitochondrial mass is detected

• JC-1 staining analysis indicates reduced mitochondrial membrane potential

abnormal oxidative phosphorylation ( J:339244 )

• impaired OXPHOS biogenesis with reduced ATP levels and increased reactive oxygen species levels at E17.5

homeostasis/metabolism

decreased cellular ATP level ( J:339244 )

Genotype
MGI:4438714

cn267

• Allelic Composition: Dnm1l^tm1.1Miha/Dnm1l^tm1.1Miha; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:158142 )

• mice die within days of birth

craniofacial

abnormal posterior cranial fossa morphology ( J:158142 )

• at E18.5, subdural and subarachnoid spaces in the posterior fossa are enlarged compared to in wild-type mice

nervous system

increased neuron apoptosis ( J:158142 )

• at E18.5, mice exhibit an increase in apoptotic neurons in the brain compared to in wild-type mice

abnormal brain morphology ( J:158142 )

• at E15.5, mice exhibit milder brain defects than at E18.5

• at E18.5, subdural and subarachnoid spaces in the posterior fossa are enlarged compared to in wild-type mice

forebrain hypoplasia ( J:158142 )

• at E18.5

enlarged brain ventricles ( J:158142 )

• enlarged at E18.5

abnormal brain white matter morphology ( J:158142 )

• at E18.5, mice exhibit white matter hypoplasia compared with wild-type mice

• mice exhibit periventricular leukomalia unlike wild-type mice

abnormal brainstem morphology ( J:158142 )

• small at E20

small cerebellum ( J:158142 )

• at E20

abnormal subarachnoid space morphology ( J:158142 )

• at E18.5, subarachnoid spaces in the posterior fossa are enlarged compared to in wild-type mice

decreased CNS synapse formation ( J:158142 )

• cultured neuronal progenitor cells from E17.5 exhibit compromised synapse formation compared with similarly treated wild-type cells

abnormal neurite morphology ( J:158142 )

• cultured neurons exhibit fewer neurites and neurite branches compared with wild-type cells

skeleton

abnormal posterior cranial fossa morphology ( J:158142 )

• at E18.5, subdural and subarachnoid spaces in the posterior fossa are enlarged compared to in wild-type mice

cellular

abnormal mitochondrial morphology ( J:158142 )

• in cultured forebrain cells, mitochondria are decreased in number, irregularly localized within the cell body, and heterogenously localized in large clumps in the neurites unlike in wild-type cells

increased neuron apoptosis ( J:158142 )

• at E18.5, mice exhibit an increase in apoptotic neurons in the brain compared to in wild-type mice

Genotype
MGI:5703890

cn268

• Allelic Composition: Ncaph^tm1.1Hiran/Ncaph^tm1.2Hiran; Ncaph2^tm1.1Hiran/Ncaph2^tm1.2Hiran; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

cellular

abnormal cell nucleus morphology ( J:222181 )

• hyperclustering of chromocenters in neurons

abnormal mitosis ( J:222181 )

• mice exhibit postmitotic cells with tail-like structures, indicative of defective chromosome segregation

• mitotic chromosomes are highly disorganized at prometaphase in 87.8% of cells

• cells with abnormal chromosomes progress through mitosis, exhibiting chromosome bridges in anaphase and dumbbell-shaped nucleus in subsequent G1 phase

• hyperclustering of chromocenters (the nuclear structure that forms from the association of pericentric heterochromatin from several different chromosomes during interphase) in neurons

nervous system

abnormal cerebral cortex morphology ( J:222181 )

• cerebral cortices are disorganized at E16.5

• massive apoptosis in developing cortices at E13.5

thin cerebral cortex ( J:222181 )

• cerebral cortices are extremely thin at E16.5

abnormal neuronal stem cell morphology ( J:222181 )

• Sox2+ neural stem cells largely disappear

decreased neuron number ( J:222181 )

• neurons in the cortical plate are reduced at E16.5

• Brn2+ upper-layer (later born) neurons are depleted more severely than the Tbr1+ deep-layer (early born) neurons

Genotype
MGI:5703889

cn269

• Allelic Composition: Ncaph2^tm1.1Hiran/Ncaph2^tm1.2Hiran; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

cellular

abnormal cell nucleus morphology ( J:222181 )

• the numbers of chromocenters per nucleus in the ventricular zone are greatly decreased; this is due to hyperclustering of chromocenters and not due to loss of chromocenters

• hyperclustering of chromocenters occurs in neural stem cells and in postmitotic neurons

abnormal nucleolus morphology ( J:222181 )

• structure of nucleoli within the interphase nucleus is largely disorganized and the number of nucleoli per nucleus in the ventricular zone is decreased

• decrease in number of nucleoli occurs in neural stem cells and in postmitotic neurons

abnormal mitosis ( J:222181 )

• neural stem cells show unusually large, Hoechst-dense structures at prophase, however the kinetics of mitotic progression is normal

• chromosome segregation defects at anaphase and postmitotic cells at E16.5

• defects in mitotic chromosome architecture and segregation are more prominent than in mice conditionally deleted for Ncaph

• the numbers of chromocenters (the nuclear structure that forms from the association of pericentric heterochromatin from several different chromosomes during interphase) per nucleus in the ventricular zone are greatly decreased; this is due to hyperclustering of chromocenters and not due to loss of chromocenters

• hyperclustering of chromocenters occurs in neural stem cells and in postmitotic neurons

nervous system

abnormal cortical plate morphology ( J:222181 )

• apoptotic cells are seen in the cortical plate

abnormal cerebral cortex morphology ( J:222181 )

• cerebral cortices are highly disorganized by E19.5

• some apoptosis is seen in the developing cortices at E13.5

abnormal neuronal stem cell morphology ( J:222181 )

• numbers of neural stem cells are decreased at E16.5

decreased neuron number ( J:222181 )

• numbers of neurons are decreased at E16.5

abnormal neuronal stem cell physiology ( J:222181 )

• neural stem cells undergo apoptosis in the ventricular zone at E16.5

Genotype
MGI:5703887

cn270

• Allelic Composition: Ncaph^tm1.1Hiran/Ncaph^tm1.2Hiran; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

cellular

abnormal mitosis ( J:222181 )

• the frequencies of mitotic neural stem cells is increased, indicating that mitotic progression is slowed down

• E16.5 neural stem cells show an increase in the proportion of prometaphase and metaphase cells

• defects in mitotic chromosome architecture and segregation are less prominent than in mice conditionally deleted for Ncaph2

nervous system

abnormal cerebral cortex morphology ( J:222181 )

• cerebral cortices are highly disorganized by E19.5

• some apoptosis is seen in the developing cortices at E13.5

abnormal neuronal stem cell morphology ( J:222181 )

• numbers of neural stem cells are decreased at E16.5

decreased neuron number ( J:222181 )

• numbers of neurons are decreased at E16.5

abnormal neuronal stem cell physiology ( J:222181 )

• neural stem cells undergo apoptosis in the ventricular zone at E16.5

Genotype
MGI:5634286

cn271

• Allelic Composition: Prlh^tm2Smln/Prlh^tm2Smln; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

behavior/neurological

behavior/neurological phenotype ( J:215557 )

N • mice exhibit normal food intake

growth/size/body

growth/size/body region phenotype ( J:215557 )

N • mice exhibit normal body weight

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:215557 )

N • mice exhibit normal response to leptin and Cck

Genotype
MGI:5703894

cn272

• Allelic Composition: Smc2^tm1.1Hiran/Smc2^tm1.2Hiran; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

cellular

abnormal cell nucleus morphology ( J:222181 )

• hyperclustering of chromocenters in neurons

abnormal mitosis ( J:222181 )

• mice exhibit postmitotic cells with tail-like structures, indicative of defective chromosome segregation

• mitotic chromosomes are highly disorganized at prometaphase in 88.6% of cells

• hyperclustering of chromocenters (the nuclear structure that forms from the association of pericentric heterochromatin from several different chromosomes during interphase) in neurons

nervous system

abnormal cerebral cortex morphology ( J:222181 )

• cerebral cortices are disorganized at E16.5 and no recognizable cortex is seen by E19.5

thin cerebral cortex ( J:222181 )

• cerebral cortices are extremely thin at E16.5

abnormal neuronal stem cell morphology ( J:222181 )

• Sox2+ neural stem cells largely disappear

decreased neuron number ( J:222181 )

• neurons in the cortical plate are reduced at E16.5

• Brn2+ upper-layer (later born) neurons are depleted more severly than the Tbr1+ deep-layer (early born) neurons

abnormal neuronal stem cell physiology ( J:222181 )

• neural stem cells cultures show cells with limited proliferation capacities as seen by decreased neurosphere formation and cell population sizes

Genotype
MGI:7341389

cn273

• Allelic Composition: Gpr161^tm1.2Smuk/Gpr161^tm1.2Smuk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

nervous system

enlarged tectum ( J:316181 )

• all fetuses exhibit protrusive tectal defects (tectal hypertrophy) at E13.5-E17.5

limbs/digits/tail

polydactyly ( J:316181 )

• at E13.5

Genotype
MGI:5304838

cn274

• Allelic Composition: Ptpn2^tm1.1Ttig/Ptpn2^tm1.1Ttig; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:179621 )

• in fed mice fed standard chow

decreased circulating leptin level ( J:179621 )

• in fed mice fed standard chow

decreased circulating growth hormone level ( J:179621 )

• in fed mice fed standard chow

increased energy expenditure ( J:179621 )

• in the dark phase when mice are fed standard chow

decreased susceptibility to diet-induced obesity ( J:179621 )

• when fed a high-fat diet

increased oxygen consumption ( J:179621 )

• in fed mice fed standard chow

abnormal glucose homeostasis ( J:179621 )

• glucose utilization is increased compared to in wild-type mice

decreased circulating glucose level ( J:179621 )

• in fasted mice whether fed standard chow or a high-fat diet

decreased circulating insulin level ( J:179621 )

• in fasted mice whether fed standard chow or a high-fat diet

increased insulin sensitivity ( J:179621 )

• in mice fed standard chow or a high-fat diet

increased adiponectin level ( J:179621 )

• in mice fed a high-fat diet, but not when mice are fed standard chow

increased response to leptin ( J:179621 )

• whether fed standard chow or a high-fat diet, leptin-treated mice exhibit enhanced leptin sensitivity with lower body weight and decreased food intake compared with wild-type mice

skeleton

decreased bone mineral content ( J:179621 )

• in fed mice fed standard chow

decreased bone mineral density ( J:179621 )

• in fed mice fed standard chow

decreased trabecular bone volume ( J:179621 )

• in fed mice fed standard chow

decreased bone trabecula number ( J:179621 )

• in fed mice fed standard chow

growth/size/body

decreased body weight ( J:179621 )

• at 3 and 8 weeks of age in mice fed standard chow

• in leptin-treated mice

• in mice fed a high fat diet

decreased body length ( J:179621 )

• in fed mice fed standard chow

decreased susceptibility to diet-induced obesity ( J:179621 )

• when fed a high-fat diet

behavior/neurological

abnormal eating behavior ( J:179621 )

• in leptin-treated mice

• at 8 to 10 weeks of age when fed standard chow

decreased locomotor activity ( J:179621 )

• in fed mice fed standard chow

adipose tissue

increased total body fat amount ( J:179621 )

• relative adiposity is increased in male and female mice in mice fed standard chow

• in mice fed a high-fat diet

hematopoietic system

decreased bone marrow cell number ( J:179621 )

• in fed mice fed standard chow

Genotype
MGI:4939887

cn275

• Allelic Composition: Ren1^tm1.1Sig/Ren1^tm1.1Sig; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

mortality/aging

mortality/aging ( J:168753 )

N • mice exhibit normal survival unlike Ren1^tm1.2Sig homozygotes

renal/urinary system

renal/urinary system phenotype ( J:168753 )

N • mice exhibit normal renal morphology and function

cardiovascular system

cardiovascular system phenotype ( J:168753 )

N • mice exhibit normal blood pressure

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:168753 )

N • mice exhibit normal metabolism

Genotype
MGI:6377095

cn276

• Allelic Composition: Marveld1^tm1.1Liy/Marveld1^tm1.1Liy; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

nervous system

abnormal cerebellar granule cell migration ( J:279065 )

• accumulation of granule cells in the EGL of mice at 4 weeks of age

abnormal Purkinje cell morphology ( J:279065 )

• shrinking cell bodies in the cerebellum

abnormal Purkinje cell dendrite morphology ( J:279065 )

• dramatic reduction in the apical dendritic arbor

abnormal CNS glial cell morphology ( J:279065 )

• glial scaffolds are severely disorganized and the fiber density is reduced in the cerebellum

• fibers are also tiny and disarranged lacking connection with the basement membrane in the cerebellum

cellular

abnormal cerebellar granule cell migration ( J:279065 )

• accumulation of granule cells in the EGL of mice at 4 weeks of age

Genotype
MGI:5882503

cn277

• Allelic Composition: Cpeb2^tm1.1Yshu/Cpeb2^tm1.1Yshu; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL/J

respiratory system

abnormal whole-body plethysmography ( J:237513 )

• whole-body plethysmography revealed severe respiratory defects, similar to those observed in Cpeb2^tm1.2Yshu homozygotes

• however, tidal volume is normal at P1

abnormal breathing pattern ( J:237513 )

• pups exhibit aberrant respiration patterns at P1

decreased pulmonary respiratory rate ( J:237513 )

• significantly reduced respiratory frequency at P1

apnea ( J:237513 )

• significantly increased apneic episodes at P1

respiratory failure ( J:237513 )

homeostasis/metabolism

increased acetylcholine level ( J:237513 )

• pulmonary acetylcholine level is significantly increased at P1

increased brain choline acetyltransferase activity ( J:237513 )

• choline acetyltransferase (ChAT) expression is increased by ~20% in the dorsal motor nucleus of vagus (DMNV)

Genotype
MGI:6480015

cn278

• Allelic Composition: Atg7^tm1Tchi/Atg7^tm1Tchi; Tg(Nes-cre)1Kln/0; Wdr45b^{tm1c(EUCOMM)Hmgu}/Wdr45b^{tm1c(EUCOMM)Hmgu}
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

behavior/neurological

impaired coordination ( J:298097 )

♂ • motor deficits at age 4 weeks

nervous system

Purkinje cell degeneration ( J:298097 )

♂ • many dead cells at age 4 weeks

abnormal cerebellar granule cell morphology ( J:298097 )

♂ • many dead cells at age 4 weeks

cerebellum atrophy ( J:298097 )

♂ • severe cerebellar degeneration at age 4 weeks

♂ • many dead Purkinje and granule cells at age 4 weeks

abnormal axon morphology ( J:298097 )

♂ • dense fibrils and severely damaged myelinated nerve fibers in cerebellum at age 4 weeks

growth/size/body

postnatal growth retardation ( J:298097 )

♂ • severe growth retardation of the few mice that are born

mortality/aging

lethality during fetal growth through weaning, complete penetrance ( J:298097 )

♂ • the few mice that are born die within 4 weeks

prenatal lethality, incomplete penetrance ( J:298097 )

♂ • most embryos die

cellular

abnormal Golgi apparatus morphology ( J:298097 )

♂ • accumulation of small fragmented and swollen rod-shaped Golgi membranes in cerebellar Purkinje cells at age 4 weeks

abnormal endoplasmic reticulum morphology ( J:298097 )

♂ • highly enriched smooth ER membranes in cerebellar Purkinje cells and myelinated nerve fibers at age 4 weeks

Genotype
MGI:7493444

cn279

• Allelic Composition: Chd7^{tm2c(EUCOMM)Wtsi}/Chd7^{tm2c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

mortality/aging

perinatal lethality, incomplete penetrance ( J:243947 )

• display largely perinatal lethality

nervous system

cerebellum hypoplasia ( J:243947 )

• conspicuous hypoplasia in surviving homozygous mice

Genotype
MGI:5545908

cn280

• Allelic Composition: Socs7^{tm1c(EUCOMM)Wtsi}/Socs7^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

nervous system

nervous system phenotype ( J:205551 )

N • mice exhibit normal cerebellar development

abnormal neocortex morphology ( J:205551 )

Genotype
MGI:5702324

cn281

• Allelic Composition: Ctsd^tm1.1Thre/Ctsd^tm1.1Thre; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

mortality/aging

premature death ( J:227618 )

• median survival is 31.5 days

nervous system

gliosis ( J:227618 )

• at P26

microgliosis ( J:227618 )

• at P26 but less than in knock-out mice

astrocytosis ( J:227618 )

• at P26 and increased at P31

neuron degeneration ( J:227618 )

• severe loss of neurons in the thalamic region and hippocampus at P26

growth/size/body

decreased body weight ( J:227618 )

• from P18 onward

digestive/alimentary system

decreased small intestinal villus height ( J:227618 )

• at P31, mice exhibit shortening of small intestinal villi compared with wild-type mice

small intestinal villus atrophy ( J:227618 )

• at P31, mice exhibit atrophy of small intestinal villi compared with wild-type mice

endocrine/exocrine glands

abnormal thymus morphology ( J:227618 )

• morphologically impaired at P31

hematopoietic system

abnormal thymus morphology ( J:227618 )

• morphologically impaired at P31

decreased double-positive T cell number ( J:227618 )

• at P31

• however, numbers are normal at P14

microgliosis ( J:227618 )

• at P26 but less than in knock-out mice

immune system

abnormal thymus morphology ( J:227618 )

• morphologically impaired at P31

decreased double-positive T cell number ( J:227618 )

• at P31

• however, numbers are normal at P14

microgliosis ( J:227618 )

• at P26 but less than in knock-out mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 10		DOID:0110725	OMIM:610127	J:227618

Genotype
MGI:5897781

cn282

• Allelic Composition: Rcor2^{tm1c(EUCOMM)Wtsi}/Rcor2^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

nervous system

decreased brain size ( J:235702 )

• at E13.5 and E15.5

abnormal cerebral cortex morphology ( J:235702 )

• abnormalities in lamination at E15.5

decreased cerebral cortex pyramidal cell number ( J:235702 )

• expression analysis indicates a dramatic decrease at E15.5

thin cerebral cortex ( J:235702 )

• at E15.5

decreased neuronal precursor cell number ( J:235702 )

• at E15.5

abnormal neuron physiology ( J:235702 )

• cortical neural progenitor cells appear to exit the cell cycle earlier compared to controls

decreased neuronal precursor proliferation ( J:235702 )

• cortical neural progenitor cells form smaller neurospheres in culture

• inhibition of SHH with Cyclopamine increases neurosphere size

cellular

abnormal cell cycle ( J:235702 )

• cortical neural progenitor cells appear to exit the cell cycle earlier compared to controls

decreased neuronal precursor proliferation ( J:235702 )

• cortical neural progenitor cells form smaller neurospheres in culture

• inhibition of SHH with Cyclopamine increases neurosphere size

Genotype
MGI:5545905

cn283

• Allelic Composition: Rnf7^{tm1c(EUCOMM)Wtsi}/Rnf7^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

nervous system

decreased cerebellar granule cell precursor proliferation ( J:205551 )

• fewer mitotic granule cell in the cerebellum at P5

hydrocephaly ( J:205551 )

• progressive in most mice by 3 to 6 months

enlarged brain ventricles ( J:205551 )

• in most mice at P10 to P15

abnormal cerebellar layer morphology ( J:205551 )

• ectopic lamination at E17.5

• intermingling layers at P5

ectopic Purkinje cell ( J:205551 )

• at E17.5

• in the white matter at P5

delaminated Purkinje cell layer ( J:205551 )

• at P5

small cerebellum ( J:205551 )

• reduced area at P5

growth/size/body

postnatal growth retardation ( J:205551 )

• mice fail to thrive

cellular

decreased cerebellar granule cell precursor proliferation ( J:205551 )

• fewer mitotic granule cell in the cerebellum at P5

Genotype
MGI:6201595

cn284

• Allelic Composition: Slc9a9^{tm2c(KOMP)Wtsi}/Slc9a9⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

behavior/neurological

abnormal social investigation ( J:258593 )

• reduced in juveniles

abnormal social play behavior ( J:258593 )

• juveniles display reduced play soliciting

Genotype
MGI:6279163

cn285

• Allelic Composition: Ufm1^tm1.1Kmts/Ufm1^tm1.1Kmts; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:240522 )

• mice are viable and overtly normal at birth but die within 1 day of birth

growth/size/body

microcephaly ( J:240522 )

• mice delivered by Caesarean section at E18.5 exhibit microcephaly

nervous system

increased neuron apoptosis ( J:240522 )

• double immunofluorescence analysis using antibodies against betaIII tubulin (a neuronal marker) and cleaved Caspase-3 revealed increased neuron apoptosis in the occipital region of neopallium at E18.5

increased brain apoptosis ( J:240522 )

• a significant increase in the number of cleaved Caspase-3-positive cells is noted in the occipital region of neopallium at E18.5

• however, no apoptotic cells are detected in other brain regions

abnormal brain development ( J:240522 )

• at E18.5, both transverse and longitudinal distances in the brain are significantly shorter than those in control brains

• however, cellular organization is relatively normal

decreased midbrain size ( J:240522 )

• at E18.5

small thalamus ( J:240522 )

• at E18.5

decreased neocortex size ( J:240522 )

• at E18.5, the occipital region of neopallium is smaller than normal while the difference in the parietal region is less apparent

cellular

increased neuron apoptosis ( J:240522 )

• double immunofluorescence analysis using antibodies against betaIII tubulin (a neuronal marker) and cleaved Caspase-3 revealed increased neuron apoptosis in the occipital region of neopallium at E18.5

increased brain apoptosis ( J:240522 )

• a significant increase in the number of cleaved Caspase-3-positive cells is noted in the occipital region of neopallium at E18.5

• however, no apoptotic cells are detected in other brain regions

Genotype
MGI:6157765

cn286

• Allelic Composition: Manf^{tm1c(KOMP)Wtsi}/Manf^{tm1c(KOMP)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL
• Cell Lines: EPD0162_3_D06

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:211812 )

N • normal glucose homeostasis and insulin levels

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:211812 )

N • normal glucose homeostasis

Genotype
MGI:6201594

cn287

• Allelic Composition: Slc9a9^{tm2c(KOMP)Wtsi}/Slc9a9^{tm2c(KOMP)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

behavior/neurological

behavior/neurological phenotype ( J:258593 )

N • no gross defects in motor behavior

abnormal habituation ( J:258593 )

• adults fail to habituate to a novel mouse upon repeated exposures

• however, adults spend more time with a novel mouse than a novel object or familiar mouse suggesting similar interest in social interactions compared to controls

abnormal olfactory behavior ( J:258593 )

• fail to respond differently to non-social (food), social, and aversive scents unlike controls

• however, mice are similar to wild-type controls in the ability to find a buried cookie indicating the absence of a gross defect in olfaction

abnormal allogrooming behavior ( J:258593 )

• reduced in juveniles

increased stereotypic behavior ( J:258593 )

• increase in repetitive digging behavior

abnormal social/conspecific interaction behavior ( J:258593 )

• reduced in juveniles

abnormal social investigation ( J:258593 )

• reduced in juveniles

abnormal social recognition ( J:258593 )

• impaired in adults

abnormal social play behavior ( J:258593 )

• juveniles display reduced play soliciting

growth/size/body

decreased body weight ( J:258593 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:258593

Genotype
MGI:5554943

cn288

• Allelic Composition: Taok2^tm1.1Dkap/Taok2^tm1.1Dkap; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6NTac * SJL

behavior/neurological

behavior/neurological phenotype ( J:206781 )

N • water consumption is normal

increased alcohol consumption ( J:206781 )

• during the drinking in the dark study

enhanced behavioral response to alcohol ( J:206781 )

• increased recovery time from the sedative effects of ethanol

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:206781 )

N • mice exhibit normal blood ethanol content after ethanol treatment

Genotype
MGI:6360739

cn289

• Allelic Composition: Sfpq^tm1.1Takea/Sfpq^tm1.1Takea; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * CBA/JNCrlj * SJL

mortality/aging

postnatal lethality ( J:271630 )

• viable at E18.5 but no viable postnatal mice are found

nervous system

nervous system phenotype ( J:271630 )

N • no abnormalities in proliferation of neuronal progenitor cells is seen at E13.5 in cortical regions

increased neuron apoptosis ( J:271630 )

• increase in the number of TUNEL positive cells in the thalamus and developing cerebrocortical regions of the brain at E14.5

• increase in the number of apoptotic cells in the thalamus but not the cortical regions at E13.5

abnormal brain morphology ( J:271630 )

• unusual dark red structures are visible in the brain at E18.5

• most dorsal parts including the cerebral cortex are lost at E18.5; however, most medioventral Tuj1 positive regions remain

enlarged third ventricle ( J:271630 )

• wider at E13.5

abnormal thalamus morphology ( J:271630 )

• abnormal shape at E13.5

small thalamus ( J:271630 )

• severely reduced thickness at E14.5

abnormal cerebral cortex morphology ( J:271630 )

• loss of the cerebral cortex at E18.5

• abnormal shape at E13.5

thin cerebral cortex ( J:271630 )

• severely reduced thickness at E14.5

vision/eye

microphthalmia ( J:271630 )

• at E18.5

cellular

increased neuron apoptosis ( J:271630 )

• increase in the number of TUNEL positive cells in the thalamus and developing cerebrocortical regions of the brain at E14.5

• increase in the number of apoptotic cells in the thalamus but not the cortical regions at E13.5

Genotype
MGI:7312058

cn290

• Allelic Composition: Sh3rf1^em1Bcgen/Sh3rf1^em1Bcgen; Tg(Nes-cre)1Kln/0; Tg(Thy1-EGFP)MJrs/0
• Genetic Background: involves: C57BL/6 * CBA * SJL

nervous system

decreased dendritic spine density ( J:326378 )

• reduction in the number and volume of mushroom, thin, and filopodium spines

• however, stubby spine numbers are normal

decreased dendritic spine length ( J:326378 )

• with reduced complexity

Genotype
MGI:4820735

cn291

• Allelic Composition: Psmg1^tm1.1Smta/Psmg1^tm1.1Smta; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * CBA * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:162790 )

• mice die by P21

nervous system

decreased cerebellar granule cell precursor proliferation ( J:162790 )

abnormal cerebral hemisphere morphology ( J:162790 )

• as early as P3, cerebrum weight is decreased compared to in wild-type mice

• however, the formation of pyramidal cell and granular cell layers is normal

decreased dentate gyrus size ( J:162790 )

• reduced

small hippocampus ( J:162790 )

thin cerebral cortex ( J:162790 )

abnormal cerebellum morphology ( J:162790 )

• as early as P3, cerebellum weight is decreased compared to in wild-type mice

abnormal cerebellum development ( J:162790 )

• mice lack the normal three layers observed in wild-type mice

behavior/neurological

limb grasping ( J:162790 )

tremors ( J:162790 )

ataxia ( J:162790 )

growth/size/body

postnatal growth retardation ( J:162790 )

cellular

decreased cerebellar granule cell precursor proliferation ( J:162790 )

Genotype
MGI:5487466

cn292

• Allelic Composition: Sqstm1^tm2.1Jmos/Sqstm1^tm2.1Jmos; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * DBA

growth/size/body

growth/size/body region phenotype ( J:194291 )

N • mice fed standard chow or a high fat diet exhibit normal body weight and composition

behavior/neurological

behavior/neurological phenotype ( J:194291 )

N • mice fed standard chow or a high fat diet exhibit normal food intake

Genotype
MGI:3719691

cn293

• Allelic Composition: Ldb1^tm2Lmgd/Ldb1^tm2Lmgd; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * FVB/N * SJL

nervous system

absent cerebellar foliation ( J:123471 )

• absent at E18.5

decreased Purkinje cell number ( J:123471 )

• greatly reduced in number at E18.5

small cerebellum ( J:123471 )

• small at E18.5 compared to controls

Genotype
MGI:5760304

cn294

• Allelic Composition: Htra2^tm1.1Hohj/Htra2^tm1.1Hohj; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6J

mortality/aging

premature death ( J:225666 )

• all mice die by P40 or are euthanized by P35 due to paralysis and lack of response to stimuli

growth/size/body

decreased body weight ( J:225666 )

• mice fail to gain weight past P18

postnatal growth retardation ( J:225666 )

• mice develop normally until P18 but fail to thrive and subsequently are smaller than controls

behavior/neurological

lethargy ( J:225666 )

• after ~P25

tremors ( J:225666 )

• after ~P25

ataxia ( J:225666 )

• after ~P25

impaired balance ( J:225666 )

• loss of balance and rolling after ~P25

decreased grip strength ( J:225666 )

• mice exhibit significantly reduced grip strength at P22-P26 relative to controls

paralysis ( J:225666 )

• by P35

no spontaneous movement ( J:225666 )

• lack of response to stimuli by P35

muscle

muscle weakness ( J:225666 )

• in the hind limb suspension test, neonates show reduced muscle strength performance, with a consistently shorter hang time and decreased number of pull attempts starting at P8 and continuing to P10

immune system

thymus atrophy ( J:225666 )

spleen atrophy ( J:225666 )

cellular

abnormal mitochondrial morphology ( J:225666 )

• mice exhibit an accumulation of structurally abnormal mitochondria in cerebellar granule cells that is associated with defective processing of OPA1, a key molecule for mitochondrial fusion and cristae remodeling, leading to depletion of the L-isoform

• abnormal OPA1 processing is brain-specific and can be detected at P25

increased brain apoptosis ( J:225666 )

• mice show a significant increase in the number of TUNEL+ cells in discrete brain regions, i.e. striatum, cerebellum and entorhinal cortex, at P30 relative to controls

• cell death in the striatum and cerebellum is detectable by P25 and progressively worsens over time

• dying cells in the entorhinal cortex are seen at P30 but not at P25

• whereas cell death is widespread in the striatum, cerebellar cell death appears to be localized in the granule cell layer with a prominent amount of TUNEL+ cells

abnormal respiratory electron transport chain ( J:225666 )

• at P25, Complex I and Complex II enzyme levels are reduced in the cerebellar granule cell layer and in the striatum, but not in the cerebral cortex, relative to controls, suggesting that electron transport chain function is impaired

• reduction in the levels of respiratory enzymes is confined to the regions that undergo cell death

hematopoietic system

thymus atrophy ( J:225666 )

spleen atrophy ( J:225666 )

endocrine/exocrine glands

thymus atrophy ( J:225666 )

nervous system

nervous system phenotype ( J:225666 )

N • despite increased cerebellar cell death, P30-P35 cerebella appear grossly unaffected, with no signs of demyelination, and normal Purkinje cell organization, neuronal populations and granule cell layer morphology relative to wild-type controls

increased brain apoptosis ( J:225666 )

• mice show a significant increase in the number of TUNEL+ cells in discrete brain regions, i.e. striatum, cerebellum and entorhinal cortex, at P30 relative to controls

• cell death in the striatum and cerebellum is detectable by P25 and progressively worsens over time

• dying cells in the entorhinal cortex are seen at P30 but not at P25

• whereas cell death is widespread in the striatum, cerebellar cell death appears to be localized in the granule cell layer with a prominent amount of TUNEL+ cells

Genotype
MGI:6404011

cn295

• Allelic Composition: Prdm15^{tm1c(EUCOMM)Wtsi}/Prdm15^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: EPD0114_3_G01

normal phenotype

no abnormal phenotype detected ( J:285408 )

• embryos exhibit no apparent brain defects at E12.5, and mice are born at the expected Mendelian ratios and develop into healthy adults

Genotype
MGI:3044597

cn296

• Allelic Composition: Tg(Actb-NOTCH1)2Shn/0; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6J * SJL

cellular

abnormal apoptosis ( J:90392 )

• at E11.5 a 60% increase in apoptotic cells is seen in the telencephalon

Genotype
MGI:4939153

cn297

• Allelic Composition: S1pr1^tm1Jch/S1pr1^tm1Jch; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6J * SJL

immune system

decreased susceptibility to experimental autoimmune encephalomyelitis ( J:168824 )

• Experimental Autoimmune Encephalitis induced by Myelin Oligodendrocyte Glycoprotein is reduced in severity as compared to controls

nervous system

astrocytosis ( J:168824 )

• does not develop in Experimental Autoimmune Encephalitis

abnormal axon morphology ( J:168824 )

• reduced axonal damage in Experimental Autoimmune Encephalitis

demyelination ( J:168824 )

• reduced in Experimental Autoimmune Encephalitis

Genotype
MGI:5466414

cn298

• Allelic Composition: Tg(Nes-cre)1Kln/0; Zfp568^tm1Ckjs/Zfp568^tm1Ckjs
• Genetic Background: involves: C57BL/6J * SJL

nervous system

nervous system phenotype ( J:192224 )

N • mice exhibit normal cortical layering and neuronal migration

abnormal neuronal precursor proliferation ( J:192224 )

• reduced average size of primary and secondary neurospheres grown from neural stem cells due to reduced proliferation

• reduced proliferation in subventricular zone but not in the dentate gyrus

decreased brain weight ( J:192224 )

• at birth but not in adult mice

behavior/neurological

behavior/neurological phenotype ( J:192224 )

N • mice exhibit normal performance in a Morris water maze

increased aggression ( J:192224 )

pup cannibalization ( J:192224 )

♀

cellular

abnormal neuronal precursor proliferation ( J:192224 )

• reduced average size of primary and secondary neurospheres grown from neural stem cells due to reduced proliferation

• reduced proliferation in subventricular zone but not in the dentate gyrus

Genotype
MGI:6367628

cn299

• Allelic Composition: Pdxp^tm1.1Ango/Pdxp^tm1.1Ango; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6J * SJL

behavior/neurological

decreased grip strength ( J:270551 )

• hind paw grip strength is reduced in young mice

Genotype
MGI:5306399

cn300

• Allelic Composition: Tg(ACTB-eGFP,-RAMP1)#Afru/0; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6J * SJL/J

immune system

increased inflammatory response ( J:120077 )

• following injection of the neuropeptide calcitonin gene-related peptide (CGRP), mutants exhibit a greater dye leakage in the whiskerpads than control mice, indicating enhanced subcutaneous facial plasma extravasation, a measure of neurogenic inflammation, in response to CGRP receptor activity

behavior/neurological

photophobia ( J:179493 )

• mutants exhibit a light-aversive behavior (photophobic phenotype), spending less time in the light than controls

• light-aversive behavior is seen in untreated mutants and is enhanced by CGRP treatment

• mutants exhibit decreased mobility in response to CGRP in the dark, but not the light side of the chamber

homeostasis/metabolism

photophobia ( J:179493 )

• mutants exhibit a light-aversive behavior (photophobic phenotype), spending less time in the light than controls

• light-aversive behavior is seen in untreated mutants and is enhanced by CGRP treatment

• mutants exhibit decreased mobility in response to CGRP in the dark, but not the light side of the chamber

vision/eye

photophobia ( J:179493 )

• mutants exhibit a light-aversive behavior (photophobic phenotype), spending less time in the light than controls

• light-aversive behavior is seen in untreated mutants and is enhanced by CGRP treatment

• mutants exhibit decreased mobility in response to CGRP in the dark, but not the light side of the chamber

Genotype
MGI:6480014

cn301

• Allelic Composition: Atg7^tm1Tchi/Atg7^tm1Tchi; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj * SJL

nervous system

nervous system phenotype ( J:298097 )

♂N • no iron depositions in cerebellum at age 5 weeks

cellular

cellular phenotype ( J:298097 )

♂N • normal Golgi apparatus morphology in cerebellar Purkinje cells at age 5 weeks

♂N • normal mitochondrial morphology in cerebellum at age 5 weeks

abnormal endoplasmic reticulum morphology ( J:298097 )

♂ • highly enriched smooth ER membranes in cerebellar Purkinje cells and myelinated nerve fibers at age 5 weeks

Genotype
MGI:7657714

cn302

• Allelic Composition: Tg(Nes-cre)1Kln/0; Ube4b^em1Bcgen/Ube4b^em1Bcgen
• Genetic Background: involves: C57BL/6N * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:332423 )

• half of mice do not survive beyond the first week after birth

• mice suffer sudden deaths with few mice reaching adulthood

• mice often died the day after epileptic episode

nervous system

tonic-clonic seizures ( J:332423 )

• with tail curling, back hunching, rhythmic twitching and rolling behaviors

decreased neuronal precursor proliferation ( J:332423 )

abnormal brain morphology ( J:332423 )

• reduced cell density at P0

• however, brain size and cortex thickness are normal

abnormal dendrite arborization pattern ( J:332423 )

• mild disorganization in the cerebral cortex

behavior/neurological

tonic-clonic seizures ( J:332423 )

• with tail curling, back hunching, rhythmic twitching and rolling behaviors

growth/size/body

decreased body weight ( J:332423 )

cellular

decreased neuronal precursor proliferation ( J:332423 )

Genotype
MGI:6455415

cn303

• Allelic Composition: Kansl3^tm1.1Max/Kansl3^tm1.1Max; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6N * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:291094 )

• no mice are present after birth

nervous system

intraventricular hemorrhage ( J:291094 )

• at E14.5

enlarged lateral ventricles ( J:291094 )

cardiovascular system

hemorrhage ( J:291094 )

• severe in all mice at E14.5

• most severe in the region of the ganglionic eminence

intraventricular hemorrhage ( J:291094 )

• at E14.5

Genotype
MGI:7424789

cn304

• Allelic Composition: Mphosph8^{tm1c(EUCOMM)Wtsi}/Mphosph8^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6N * SJL

mortality/aging

premature death ( J:332344 )

• more so than in either single conditional knock-out mouse

nervous system

increased brain size ( J:332344 )

• increased brain to body ratio

abnormal corpora quadrigemina morphology ( J:332344 )

• exposed colliculi

craniofacial

domed cranium ( J:332344 )

growth/size/body

decreased body weight ( J:332344 )

skeleton

domed cranium ( J:332344 )

Genotype
MGI:6367647

cn305

• Allelic Composition: Rsf1^{tm1c(EUCOMM)Wtsi}/Rsf1^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6N * SJL
• Cell Lines: EPD0103_1_F12

nervous system

nervous system phenotype ( J:267928 )

N • mice exhibit normal brain development

decreased neuron apoptosis ( J:267928 )

• in etoposide-treated embryonic brains

• however, response to hydroxyurea treatment is normal

cellular

decreased neuron apoptosis ( J:267928 )

• in etoposide-treated embryonic brains

• however, response to hydroxyurea treatment is normal

abnormal double-strand DNA break repair ( J:267928 )

• etoposide-treated embryonic exhibit persistence of double-strand breaks in surviving cells unlike wild-type mice

behavior/neurological

behavior/neurological phenotype ( J:267928 )

N • mice do not show signs of ataxia

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:267928 )

• etoposide-treated embryonic exhibit persistence of double-strand breaks in surviving cells unlike wild-type mice

Genotype
MGI:6368613

cn306

• Allelic Composition: Snx6^tm1.1Nju/Snx6^tm1.1Nju; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6NTac * SJL

nervous system

nervous system phenotype ( J:240866 )

N • mice exhibit normal structure of the cortex, hippocampus and cerebellum

N • mice exhibit normal NMDAR-mediated eEPSCs and pair-pulse ratio of AMPAR eEPSCs

decreased dendritic spine density ( J:240866 )

• in distal apical dendrites of hippocampal CA1 pyramidal neurons

abnormal asymmetric synapse morphology ( J:240866 )

• decreased asymmetric/excitatory synapses in the CA1, but not in the CA3 region

abnormal excitatory synapse morphology ( J:240866 )

• decreased asymmetric/excitatory synapses in the CA1, but not in the CA3 region

reduced AMPA-mediated synaptic currents ( J:240866 )

• reduced evoked excitatory postsynaptic current

behavior/neurological

behavior/neurological phenotype ( J:240866 )

N • mice exhibit normal sociability and social novelty and performance in elevated plus maze, tail suspension, forced swimming, and Y maze and shuttle box tests

impaired spatial learning ( J:240866 )

• in a Morris water maze test

abnormal spatial working memory ( J:240866 )

• severely impaired in a Morris water maze test

Genotype
MGI:3842575

cn307

• Allelic Composition: Use1^tm1.1Aha/Use1^tm1.1Aha; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

neonatal lethality ( J:147771 )

nervous system

dilated brain ventricle ( J:147771 )

• dilated ventricles

thin cerebral cortex ( J:147771 )

• decrease in the thickness of the cerebral cortices

abnormal neuron morphology ( J:147771 )

• enlargement of the endoplasmic reticulum is seen

abnormal nervous system physiology ( J:147771 )

• increase in the number of apoptotic cells in the brain at E17.5

Genotype
MGI:6480012

cn308

• Allelic Composition: Tg(Nes-cre)1Kln/0; Wdr45b^{tm1c(EUCOMM)Hmgu}/Wdr45b^{tm1c(EUCOMM)Hmgu}
• Genetic Background: involves: C57BL/6 * SJL

nervous system

abnormal brain morphology ( J:298097 )

♂ • severe reduction in cell number in first fissure of cerebellum at age 10 weeks

♂ • neuronal damage in cerebral cortex

♂ • increased Gfap protein expression in cerebral cortex and Iba1 protein expression in cerebellum

increased brain iron level ( J:298097 )

♂ • iron depositions in cerebellar Purkinje and granule cells

Purkinje cell degeneration ( J:298097 )

♂ • severe reduction in cell number in first fissure of cerebellum at age 10 weeks

decreased Purkinje cell number ( J:298097 )

♂ • severe reduction in cell number in first fissure of cerebellum at age 10 weeks

cerebellum atrophy ( J:298097 )

♂ • severe reduction in cell number in first fissure of cerebellum at age 10 weeks

♂ • presence of dead cells, collapsed myelinated nerve fibers and lamellar bodies

abnormal axon morphology ( J:298097 )

♂ • dense fibrils in cerebellar myelinated nerve fibers

cellular

cellular phenotype ( J:298097 )

♂N • normal canonical autophagy in brain

♂N • normal endoplasmic reticulum morphology in cerebellar Purkinje cells at age 10 weeks

abnormal Golgi apparatus morphology ( J:298097 )

♂ • accumulation of small fragmented and swollen rod-shaped Golgi membranes in cerebellar Purkinje cells at age 10 weeks

dilated mitochondrion ( J:298097 )

♂ • swollen mitochondria in cerebellar Purkinje cells, myelinated nerve fibers, glomeruli and granule cells

behavior/neurological

limb grasping ( J:298097 )

♂ • abnormal limb-clasping reflexes at age 10 weeks

impaired coordination ( J:298097 )

♂ • lower latency to fall in rotarod test at age 10, 15 and 20 weeks

impaired limb coordination ( J:298097 )

♂ • abnormal footprint assay patterns at age 10 weeks

homeostasis/metabolism

increased brain iron level ( J:298097 )

♂ • iron depositions in cerebellar Purkinje and granule cells

growth/size/body

postnatal growth retardation ( J:298097 )

♂ • from age 8 weeks

Genotype
MGI:4939481

cn309

• Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-Rheb*)Pfw}/Gt(ROSA)26Sor⁺; Rheb^tm1Pfw/Rheb^tm1Pfw; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

nervous system phenotype ( J:168571 )

N • brain size, myelination, and oligodendrocyte numbers are similar to controls unlike in mutant mice without the knock-in allele in Gt(ROSA)26Sor

Genotype
MGI:5052327

cn310

• Allelic Composition: Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:173947 )

• born alive with no obvious defects when the conditional deletion occurs in neural and glial tissue

Genotype
MGI:3783343

cn311

• Allelic Composition: Stat3^tm1Flv/Stat3^tm1Flv; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

Neural-specific STAT3 deletion results in severe obesity in Stat3^tm1Flv/Stat3^tm1Flv Tg(Nes-cre)1Kln/0 mice similar to that seen in Lepr^db/Lepr^db mice

mortality/aging

neonatal lethality, incomplete penetrance ( J:89242 )

• reducing the number of pups to lower the competition for milk rescues a substantial proportion of mutants from neonatal lethality

growth/size/body

obese ( J:89242 )

• mutants that survive the neonatal period develop obesity by 6-9 weeks of age and weigh twice as much as controls as adults

decreased body length ( J:89242 )

• mutants are about 8% shorter than controls

enlarged liver ( J:89242 )

liver/biliary system

enlarged liver ( J:89242 )

hepatic steatosis ( J:89242 )

adipose tissue

increased total body fat amount ( J:89242 )

• total fat content is increased 5-fold compared to controls, however lean mass is unchanged

abnormal brown adipose tissue morphology ( J:89242 )

• brown adipose tissue becomes diffuse and the structure resembles white adipose tissue

abnormal white adipose tissue morphology ( J:89242 )

• white adipose cells are larger in mutants

homeostasis/metabolism

impaired adaptive thermogenesis ( J:89242 )

• after a 12 hour fast mutants become hypothermic, however this is reversed after 1.5 hours of refeeding

• mutants housed at 4 degrees C for 3.5 hours cannot maintain their body temperature like wild-type and drop about 1 degree in body temperature every 30 min until they reach 34 degrees C, at which point they stabilize this temperature, indicating decreased sympathetic activity

increased circulating corticosterone level ( J:89242 )

increased circulating leptin level ( J:89242 )

increased circulating triglyceride level ( J:89242 )

decreased body temperature ( J:89242 )

• in the fed state, mutants show a slight but significantly lowered body temperature

abnormal body temperature homeostasis ( J:89242 )

• in the fed state, mutants show a slight but significantly lowered body temperature, however mutants are able to stabilize their body temperature by consuming twice as much food

decreased energy expenditure ( J:89242 )

abnormal glucose homeostasis ( J:89242 )

hyperglycemia ( J:89242 )

• plasma fasting glucose concentrations are increased

increased circulating insulin level ( J:89242 )

• plasma insulin concentrations are as much as 14- and 10-fold higher in the fed and fasted state, respectively

impaired glucose tolerance ( J:89242 )

• plasma glucose and insulin concentrations increase 5-fold after glucose challenge compared to controls

insulin resistance ( J:89242 )

• plasma insulin concentrations are as much as 14- and 10-fold higher in the fed and fasted state, respectively, indicating insulin resistance

behavior/neurological

decreased food intake ( J:89242 )

• pups contain reduced amount of milk in stomachs

polyphagia ( J:89242 )

• mutants consume twice as much food as wild-type

• administration of a malanocortin-3/4 receptor, MTII, reverses their hyperphagia over a 4 hour period

endocrine/exocrine glands

small seminal vesicle ( J:89242 )

♂

absent corpus luteum ( J:89242 )

♀

small testis ( J:89242 )

♂

reproductive system

small seminal vesicle ( J:89242 )

♂

absent corpus luteum ( J:89242 )

♀

small testis ( J:89242 )

♂

short uterine horn ( J:89242 )

♀ • reduced size of uterine horns

anovulation ( J:89242 )

♀ • corpa lutea are never observed indicating that ovulation does not occur

female infertility ( J:89242 )

♀

male infertility ( J:89242 )

♂

Genotype
MGI:5285555

cn312

• Allelic Composition: Foxj1^tm1.1Ctk/Foxj1^tm1.2Ctk; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

abnormal brain morphology ( J:174694 )

• after P7, maturing ependymal cells lack multicilia unlike in wild-type mice

hydrocephaly ( J:174694 )

• after P7

Genotype
MGI:4950280

cn313

• Allelic Composition: Ccl2^tm1.1Pame/Ccl2^tm1.1Pame; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

immune system

abnormal leukocyte migration ( J:171379 )

• LPS-treated mice exhibit reduced percent of circulating Ly6C^hi monocyte compared with similarly treated wild-type mice

• mice exposed to L. monocytogenes exhibit reduced Ly6C^hi monocyte emigration from the bone marrow compared with similarly treated wild-type mice

increased susceptibility to bacterial infection ( J:171379 )

• mice exposed to L. monocytogenes exhibit reduced Ly6C^hi monocyte emigration from the bone marrow and diminished bacterial clearance compared with similarly treated wild-type mice

cellular

abnormal leukocyte migration ( J:171379 )

• LPS-treated mice exhibit reduced percent of circulating Ly6C^hi monocyte compared with similarly treated wild-type mice

• mice exposed to L. monocytogenes exhibit reduced Ly6C^hi monocyte emigration from the bone marrow compared with similarly treated wild-type mice

hematopoietic system

abnormal leukocyte migration ( J:171379 )

• LPS-treated mice exhibit reduced percent of circulating Ly6C^hi monocyte compared with similarly treated wild-type mice

• mice exposed to L. monocytogenes exhibit reduced Ly6C^hi monocyte emigration from the bone marrow compared with similarly treated wild-type mice

Genotype
MGI:3777346

cn314

• Allelic Composition: Nr2e1^tm1Rev/Nr2e1^tm1Rev; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

abnormal dentate gyrus morphology ( J:132664 )

• hypomorphic

vision/eye

vision/eye phenotype ( J:132664 )

N • visual function remains at 2-4 months

behavior/neurological

behavior/neurological phenotype ( J:132664 )

N • contextual fear conditioning is normal

abnormal spatial learning ( J:132664 )

• profoundly impaired in a Morris water maze test

abnormal short-term spatial reference memory ( J:132664 )

• deficient short term memory but normal long term memory in a Morris water maze

Genotype
MGI:6455414

cn315

• Allelic Composition: Kansl2^{tm1c(EUCOMM)Wtsi}/Kansl2^{tm1c(EUCOMM)Wtsi}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:291094 )

• no mice are present after birth

nervous system

intraventricular hemorrhage ( J:291094 )

• at E14.5

enlarged lateral ventricles ( J:291094 )

cardiovascular system

hemorrhage ( J:291094 )

• severe in all mice at E14.5

• most severe in the region of the ganglionic eminence

intraventricular hemorrhage ( J:291094 )

• at E14.5

Genotype
MGI:3769794

cn316

• Allelic Composition: Nck1^tm1Paw/Nck1^tm1Paw; Nck2^tm1Paw/Nck2^tm3Paw; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:129166 )

• mice die within a few days of birth with empty stomachs likely due to suckling defects

• one mouse survived to P12 and was small, severely ataxic, and its hindlimbs respond to stimulation with rhythmic extension/flexion seizure-like activity

nervous system

abnormal axon guidance ( J:129166 )

• axons aberrantly re-cross the midline of the grey matter of the spinal cord

• interneurons aberrantly re-cross the midline of the spinal cord

abnormal brain commissure morphology ( J:129166 )

• reduced development of the posterior commissure noted at 12 weeks of age

abnormal spinal cord grey matter morphology ( J:129166 )

• axons aberrantly re-cross the midline of the grey matter of the spinal cord

abnormal spinal cord dorsal column morphology ( J:129166 )

• mice exhibit a shallow dorsal funiculus and does not widen in adulthood compared to controls

abnormal central pattern generator function ( J:129166 )

• mice exhibit synchronous firing of bilateral ventral motor neurons

behavior/neurological

ataxia ( J:129166 )

• one mouse survived to P12 and was small, severely ataxic, and its hindlimbs respond to stimulation with rhythmic extension/flexion seizure-like activity

abnormal gait ( J:129166 )

• mice exhibit a hoping gait that is maintained to adulthood

growth/size/body

decreased body size ( J:129166 )

• one mouse survived to P12 and was small, severely ataxic, and its hindlimbs respond to stimulation with rhythmic extension/flexion seizure-like activity

cellular

abnormal axon guidance ( J:129166 )

• axons aberrantly re-cross the midline of the grey matter of the spinal cord

• interneurons aberrantly re-cross the midline of the spinal cord

Genotype
MGI:4939482

cn317

• Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-Rheb*)Pfw}/Gt(ROSA)26Sor^{tm1(CAG-Rheb*)Pfw}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

increased brain size ( J:168571 )

increased brain weight ( J:168571 )

abnormal cerebral cortex morphology ( J:168571 )

• increase in the size of the soma of cortical neurons

thickened cerebral cortex ( J:168571 )

increased oligodendrocyte number ( J:168571 )

• increase in the number of mature oligodendrocytes at P7 but not at P14

neuron hypertrophy ( J:168571 )

• increase in the size of the soma of cortical neurons

hypermyelination ( J:168571 )

• during early postnatal stages but not at 4-6 weeks or 3 months of age

Genotype
MGI:6368206

cn318

• Allelic Composition: Wdr91^tm2Bcgen/Wdr91^tm2Bcgen; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

premature death ( J:247712 )

• beginning at P21 with all mice dying by 28 weeks

nervous system

increased neuron apoptosis ( J:247712 )

• at P21

abnormal neuron differentiation ( J:247712 )

• with increased enlarged intermediate endosomes

decreased brain size ( J:247712 )

• at P21, but no P10

decreased brain weight ( J:247712 )

• progressive at P10 and P21

• however, weight is normal at P0

thin cerebral cortex ( J:247712 )

abnormal neurite morphology ( J:247712 )

• reduced length and complexity

abnormal dendrite morphology ( J:247712 )

• reduced length and complexity of granular neurons at P21

• reduced branching in both the hippocampal dentate gyrus and the cortex neurons

• however, dendrite length is normal at P10

growth/size/body

postnatal growth retardation ( J:247712 )

• progressive at P21

• however, growth is normal at P0 and P10

cellular

increased neuron apoptosis ( J:247712 )

• at P21

abnormal neuron differentiation ( J:247712 )

• with increased enlarged intermediate endosomes

Genotype
MGI:5488608

cn319

• Allelic Composition: Cxcl12^tm1.1Sjm/Cxcl12^tm1.1Sjm; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: C57BL/6 * SJL

hematopoietic system

hematopoietic system phenotype ( J:194748 )

N • hematopoietic stem cells and hematopoietic lineage composition are both normal

N • bone marrow/spleen cellularity is normal

Genotype
MGI:4867643

cn320

• Allelic Composition: Fbxw7^tm1.1Axbe/Fbxw7^tm1.1Axbe; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

perinatal lethality ( J:166928 )

nervous system

nervous system phenotype ( J:166928 )

N • mice exhibit normal gliogenesis

abnormal neuron differentiation ( J:166928 )

• the number of neuroblasts in the cortex is reduced compared to in wild-type mice

• at E16.5, neuron progenitor apoptosis in the tectal mantle layer is increased compared to in wild-type mice

• neurosphere apoptosis is increased compared to in wild-type mice

• differentiation of neurospheres in culture is blocked compared to cultured wild-type cells

abnormal brain development ( J:166928 )

• mice exhibit a reduction in the number of cells in regions of the brain occupied by committed progenitors and differentiated cells compared with wild-type mice

• areas containing immature cells exhibit normal or increased numbers of cells compared to in wild-type mice

abnormal cortical intermediate zone morphology ( J:166928 )

• the intermediate zone contains fewer cells than in wild-type mice

abnormal cortical plate morphology ( J:166928 )

• the cortical plate contains fewer cells than in wild-type mice

abnormal cerebellum development ( J:166928 )

• the cerebellar anlage contains fewer cells than in wild-type mice

abnormal tectum morphology ( J:166928 )

• the midbrain tectum, especially the tectal mantle, contains fewer cells than in wild-type mice

• the number of cells in the tectal ventricular zone is increased compared to in wild-type mice

thalamus hypoplasia ( J:166928 )

• the thalamus contains fewer cells than in wild-type mice

abnormal cerebral cortex morphology ( J:166928 )

• the forebrain cortex contains fewer cells than in wild-type mice

abnormal embryonic/fetal subventricular zone morphology ( J:166928 )

• the cortical subventricular zone contains fewer cells than in wild-type mice

decreased neuronal precursor cell number ( J:166928 )

• smaller and fewer without a defect in proliferation

cellular

abnormal neuron differentiation ( J:166928 )

• the number of neuroblasts in the cortex is reduced compared to in wild-type mice

• at E16.5, neuron progenitor apoptosis in the tectal mantle layer is increased compared to in wild-type mice

• neurosphere apoptosis is increased compared to in wild-type mice

• differentiation of neurospheres in culture is blocked compared to cultured wild-type cells

Genotype
MGI:6724441

cn321

• Allelic Composition: Prrc2a^tm1Fcw/Prrc2a^tm1Fcw; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

premature death ( J:301796 )

nervous system

abnormal brain morphology ( J:301796 )

• however, neuron number is normal

abnormal brain development ( J:301796 )

• impaired oligodendrocyte progenitor cell generation and proliferation with increased oligodendrocyte differentiation

decreased oligodendrocyte progenitor number ( J:301796 )

increased brain weight ( J:301796 )

enlarged lateral ventricles ( J:301796 )

abnormal corpus callosum morphology ( J:301796 )

• increased signal density on MRIs

• hypomyelination in the corpus callosum at 4 weeks of age and in adults

decreased astrocyte number ( J:301796 )

• slight

decreased oligodendrocyte number ( J:301796 )

abnormal astrocyte physiology ( J:301796 )

• reduced proliferation

dysmyelination ( J:301796 )

• in the corpus callosum at 4 weeks of age and in adults

• reduced myelinated axons and myelin thickness in different brain regions

decreased nerve conduction velocity ( J:301796 )

• impaired callosal conduction velocity

growth/size/body

decreased body weight ( J:301796 )

behavior/neurological

impaired spatial learning ( J:301796 )

• learning and memory defects

impaired coordination ( J:301796 )

• on a rotarod

decreased grip strength ( J:301796 )

cellular

decreased oligodendrocyte progenitor number ( J:301796 )

Genotype
MGI:4939480

cn322

• Allelic Composition: Rheb^tm1Pfw/Rheb^tm1Pfw; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

premature death ( J:168571 )

• most die at 5-6 weeks of age

nervous system

abnormal brain development ( J:168571 )

• increase in the number of oligodendrocyte precursors in the cortex and hippocampus at 3 weeks of age

decreased brain weight ( J:168571 )

• a decrease in brain weight is detected at P5-P9 but not at P1

• by 2-3 weeks of age brain weight is about 50% that of controls

thin cerebral cortex ( J:168571 )

• at 4 weeks of age cortical thickness is about 65% that of controls

• however, no reduction in neuronal counts is detected at P1, P5 or P28

decreased oligodendrocyte number ( J:168571 )

• the number of mature oligodendrocytes is reduced by 60-70% in multiple regions of the brain, including the corpus callosum, cortex, and hippocampus

• the total number of oligodendrocytes (OLIG2+ cells) is reduced especially in the corpus callosum and to a lesser extent in the cortex and hippocampus

abnormal myelin sheath morphology ( J:168571 )

• widespread loss of fine myelin binding protein reactive fibers in all cortical layers and in neuropil regions of the hippocampus

• decrease in the number of meylinated axons in the corpus callosum

demyelination ( J:168571 )

• prominent at 4 weeks of age

• reduced levels of myelin proteins are detected throughout the brain

• decrease in myelination in the dense white matter tracts

growth/size/body

postnatal growth retardation ( J:168571 )

Genotype
MGI:5085298

cn323

• Allelic Composition: Smad2^tm1.1Nomu/Smad2^tm1.1Nomu; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

Cerebellar ataxia in Smad2^tm1.1Nomu/Smad2^tm1.1Nomu Tg(Nes-cre)1Kln/0 mice

mortality/aging

premature death ( J:173787 )

• mice do not survive beyond P24

nervous system

nervous system phenotype ( J:173787 )

N • granule cell proliferation is normal

increased neuron apoptosis ( J:173787 )

• in the cerebellum and cerebrum at P7

abnormal cerebellar granule cell migration ( J:173787 )

abnormal cerebellum morphology ( J:173787 )

• at P14, cerebellum morphology is severely compromised along the anteroposterior axis compared with wild-type mice

• however, morphology is normal at E16.5

abnormal cerebellar foliation ( J:173787 )

• at E18.5, cerebellar foliation is abnormal compared with wild-type mice

• at P5, the cerebella lacks uvular sulcus 1 unlike wild-type mice

abnormal Purkinje cell dendrite morphology ( J:173787 )

• at P7, dendritogenesis in the cerebella is retarded compared to in wild-type mice

• at P7 and P14, dendritic length is less than in wild-type mice

• at P14, dendritic arbors are less elaborate with fewer primary and secondary branches than in wild-type mice

• however, Purkinje cell dendrite length is restored by P14

abnormal cerebellar granule cell morphology ( J:173787 )

• mice exhibit abnormal granule cell maturation compared with wild-type mice

abnormal cerebellum vermis lobule IX morphology ( J:173787 )

• at P18, lobule IX is missing the uvular sulcus 1 unlike in wild-type mice

abnormal cerebellum vermis lobule X morphology ( J:173787 )

• extra fissure at P5

• divided in two at P14

decreased CNS synapse formation ( J:173787 )

• in the molecular layer at P7

behavior/neurological

limb grasping ( J:173787 )

tremors ( J:173787 )

• when walking

impaired balance ( J:173787 )

• mice maintain body balance by spreading their limbs farther apart than wild-type mice

abnormal posture ( J:173787 )

• at P18

abnormal locomotor coordination ( J:173787 )

• mice exhibit irregular step alternation compared with wild-type mice

ataxia ( J:173787 )

abnormal gait ( J:173787 )

• at 1 week of age, mice walk slowly and often lose their balance and stop unlike wild-type mice

short stride length ( J:173787 )

growth/size/body

decreased body size ( J:173787 )

• by P7

slow postnatal weight gain ( J:173787 )

• by P7, mice exhibit an inability to gain body weight unlike wild-type mice

cellular

increased neuron apoptosis ( J:173787 )

• in the cerebellum and cerebrum at P7

abnormal cerebellar granule cell migration ( J:173787 )

Genotype
MGI:5515334

cn324

• Allelic Composition: Prkar2b^tm3Gsm/Prkar2b^tm2Gsm; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

behavior/neurological phenotype ( J:196157 )

N • locomotor behavior restored to normal

growth/size/body

growth/size/body region phenotype ( J:196157 )

N • body weight restored to normal

adipose tissue

adipose tissue phenotype ( J:196157 )

N • major fat pads are comparable to controls

Genotype
MGI:6121121

cn325

• Allelic Composition: Gt(ROSA)26Sor^{em1(CAG-TMEM14B,-EGFP)Xqw}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

abnormal brain morphology ( J:253976 )

• cortical sulci and gyri in newborn (P0) mice

abnormal cortical intermediate zone morphology ( J:253976 )

• increased subventricular zone (SVZ) in E15.5 embryos

• two-fold increase (15% to 30%) in number of Pax6+ neural progenitor (NP) cells in SVZ

• significant increase in Pax6+ outer radial glia (oRG) cells visualized by phospho-Vimentin staining in SVZ

• increase in Sox2+ and Tbr2+ intermediate progenitor (IP) cells in SVZ

• increased proliferation and shortened cell cycle of NP cells in SVZ

• doubling of oblique cell divisions (14% to 28%) of ventricular radial glia (vRG) cells in SVZ

abnormal cortical plate morphology ( J:253976 )

• thickened in P0 mice

increased brain size ( J:253976 )

• in newborn (P0) mice

• increased cortical area, volume and perimeter, anterior-posterior and mediolateral size

abnormal neocortex morphology ( J:253976 )

• increased proliferation and shortened cell cycle of NP cells in SVZ

• doubling of oblique cell divisions (14% to 28%) of ventricular radial glia (vRG) cells in subventricular zone (SVZ)

• cortical sulci and gyri in newborn (P0) mice

• proliferation of NP cells in ventricular zone (VZ)

• increase in Sox2+ and Tbr2+ intermediate progenitor (IP) cells in SVZ

• significant increase in Pax6+ outer radial glia (oRG) cells visualized by phospho-Vimentin staining in SVZ

• Pax6+ progenitor cells expanded radially toward intermediate zone (IZ)

• two-fold increase (15% to 30%) in number of Pax6+ neural progenitor (NP) cells in SVZ

• age E15.5 embryos

increased neocortex size ( J:253976 )

• thickening due to increased subventricular zone (SVZ) in E15.5 embryos

• thickened cortical plate (CP) in P0 mice

• increase in Satb2+ (upper layer II/III marker) cells in P0 mice

• increase in Ctip2+ (deep layer V marker) cells in P0 mice

• increase in Foxp2+ (deep layer VI marker) cells in P0 mice

thickened cerebral cortex ( J:253976 )

• in newborn (P0) mice

• increased cortical area, volume and perimeter, anterior-posterior and mediolateral size

abnormal embryonic/fetal subventricular zone morphology ( J:253976 )

• increased subventricular zone (SVZ) in E15.5 embryos

• two-fold increase (15% to 30%) in number of Pax6+ neural progenitor (NP) cells

• significant increase in Pax6+ outer radial glia (oRG) cells visualized by phospho-Vimentin staining

• increase in Sox2+ and Tbr2+ intermediate progenitor (IP) cells

• increased proliferation and shortened cell cycle of NP cells

• doubling of oblique cell divisions (14% to 28%) of ventricular radial glia (vRG) cells

Genotype
MGI:3837439

cn326

• Allelic Composition: Ptgs2^tm1Wlf/Ptgs2^tm1Wlf; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

abnormal chemical nociception ( J:146193 )

• mice treated with formalin exhibit a small decrease in the duration of pain behavior compared to similarly treated wild-type mice

• however, onset and peak of formalin induced pain is normal

abnormal nociception after inflammation ( J:146193 )

• however, thermal nociception threshold following inflammation is normal

• mice fail to exhibit a decrease in the threshold of mechanical nociception following induction of inflammation unlike in similarly treated wild-type mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:146193 )

N • LPS-treated mice develop fevers as in wild-type mice

Genotype
MGI:6198662

cn327

• Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-MFN2*T105M)Dple}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

short stride length ( J:251584 )

♂ • mice exhibit a decrease in hind limb footprint length that is similar to the pes cavus foot deformity in humans

cellular

decreased mitochondrial number ( J:251584 )

♂ • diminished number of mitochondria in peripheral nerve axons, with fewer mitochondria per tibial axon

♂ • however, no mitochondrial aggregation is seen

muscle

abnormal soleus morphology ( J:251584 )

♂ • soleus muscle shows evidence of peripheral satellite cell fusion with soleus muscle fibers

♂ • both small angulated myofibers and fiber grouping is absent in the soleus muscle

abnormal skeletal muscle fiber morphology ( J:251584 )

♂ • soleus muscle exhibits a decrease in sarcomeric actin immunostaining and disruption of the normal striatal mitochondrial organization

decreased skeletal muscle fiber diameter ( J:251584 )

♂ • fast muscle fiber diameter of the tibialis and slow/mixed muscle fiber diameter of the soleus are reduced

skeletal muscle fiber atrophy ( J:251584 )

♂ • fast muscle fiber atrophy in the anterior tibialis musculature

♂ • myofiber atrophy in soleus muscle

abnormal skeletal muscle fiber type ratio ( J:251584 )

♂ • conversion of slow to mixed slow/fast fibers

nervous system

nervous system phenotype ( J:251584 )

♂N • no abnormal myelination is seen and the number of myelinating axons, their diameters, and degree of myelination in sciatic nerve is normal

limbs/digits/tail

abnormal soleus morphology ( J:251584 )

♂ • soleus muscle shows evidence of peripheral satellite cell fusion with soleus muscle fibers

♂ • both small angulated myofibers and fiber grouping is absent in the soleus muscle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2A2A		DOID:0110155	OMIM:609260	J:251584

Genotype
MGI:5563084

cn328

• Allelic Composition: Tg(CAG-EGFP,-dsRed2/RNAi:Tardbp)6Zxu/0; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

growth/size/body

microcephaly ( J:207750 )

Genotype
MGI:5313247

cn329

• Allelic Composition: Ndfip1^tm1Sest/Ndfip1^tm1Sest; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

Ndfip1^tm1Sest/Ndfip1^tm1Sest Tg(Nes-cre)1Kln/0 mice show increased infract size after hypoxia-ischemia

nervous system

increased cerebral infarct size ( J:180657 )

• following cerebral hypoxia-ischemia

homeostasis/metabolism

increased cerebral infarct size ( J:180657 )

• following cerebral hypoxia-ischemia

Genotype
MGI:7312057

cn330

• Allelic Composition: Sh3rf1^em1Bcgen/Sh3rf1^em1Bcgen; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

decreased excitatory postsynaptic current amplitude ( J:326378 )

• NMDAR-mediated

• however, AMPAR-evoked currents are normal

reduced long-term potentiation ( J:326378 )

behavior/neurological

impaired contextual conditioning behavior ( J:326378 )

impaired spatial learning ( J:326378 )

• in a Morris water maze task, mice take a longer time to reach a hidden platform compared with wild-type mice

abnormal spatial reference memory ( J:326378 )

• impaired in an eight-armed maze test

hypoactivity ( J:326378 )

• slight in an open field

increased stereotypic behavior ( J:326378 )

• increased time digging under a novel condition

• however, no increase in grooming is observed

abnormal nest building behavior ( J:326378 )

• impaired

decreased social investigation ( J:326378 )

• reduced interactions in free same-sex social interactions

decreased vocalization ( J:326378 )

• less frequent and shorter vocalizations in female and male mice

growth/size/body

decreased body weight ( J:326378 )

• slightly

taste/olfaction

taste/olfaction phenotype ( J:326378 )

N • mice exhibit normal olfaction

Genotype
MGI:4868763

cn331

• Allelic Composition: Atmin^tm1Axbe/Atmin^tm1Axbe; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

Decreased body size and reduced dopaminergic neurons in Atmin^tm1Axbe/Atmin^tm1Axbe Tg(Nes-cre)1Kln/0 mice

mortality/aging

premature death ( J:167331 )

• after 1 year of age

nervous system

astrocytosis ( J:167331 )

loss of dopaminergic neurons ( J:167331 )

decreased neuron number ( J:167331 )

• in aging mice

neurodegeneration ( J:167331 )

• associated with increased DNA damage

behavior/neurological

increased anxiety-related response ( J:167331 )

• in a light/dark test

hyperactivity ( J:167331 )

growth/size/body

decreased body weight ( J:167331 )

• from the first week after birth and onward

Genotype
MGI:5425229

cn332

• Allelic Composition: Zbtb18^tm1.1Nda/Zbtb18^tm1.1Nda; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

postnatal lethality ( J:184434 )

• die at about 3 weeks of age

nervous system

increased neuron apoptosis ( J:184434 )

• increased in the neocortex at E16.5, E18.5 and P2

abnormal neuronal migration ( J:184434 )

• widespread deficit in neuronal positioning during cortical plate formation

decreased brain size ( J:184434 )

• striking reduction in brain size

enlarged brain ventricles ( J:184434 )

• at P2

absent corpus callosum ( J:184434 )

• at P2

abnormal cerebral cortex morphology ( J:184434 )

• drastic decrease in cortical size

• small and disorganized at P2

abnormal stratification in cerebral cortex ( J:184434 )

• loss of ER81+ layer V, RORb+ layer IV and cux2+ layers II-IV

• layer V-VI neurons are detectable but fail to distribute properly

thin cerebral cortex ( J:184434 )

• progressive thinning beginning at E15.5

abnormal cerebellar cortex morphology ( J:184434 )

• drastic decrease in cortical size

• small and disorganized at P2

• progressive thinning beginning at E15.5

abnormal nervous system development ( J:184434 )

• increase in gliogenic differentiation

• increase in astrocyte production during early gliogenesis

• coherent and persistent expression of neurogenic genes

abnormal neuron differentiation ( J:184434 )

• general deficit in neuron differentiation

abnormal radial glial cell morphology ( J:184434 )

• expression analysis indicates persistence of early precursors

growth/size/body

decreased body size ( J:184434 )

• visible after 2 weeks of age

cellular

increased neuron apoptosis ( J:184434 )

• increased in the neocortex at E16.5, E18.5 and P2

abnormal neuron differentiation ( J:184434 )

• general deficit in neuron differentiation

abnormal radial glial cell morphology ( J:184434 )

• expression analysis indicates persistence of early precursors

abnormal neuronal migration ( J:184434 )

• widespread deficit in neuronal positioning during cortical plate formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant intellectual developmental disorder		DOID:0060307	OMIM:PS156200	J:184434

Genotype
MGI:5569526

cn333

• Allelic Composition: Mirc31^tm1.1Sjm/Mirc31^tm1.1Sjm; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

nervous system phenotype ( J:207231 )

N • at E18.5 and P60, mice exhibit normal multipotent neurospheres, neurosphere size and self-renewal potential

Genotype
MGI:5052329

cn334

• Allelic Composition: Ccm2^tm1Kwhi/Ccm2^tm1Kwhi; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:173947 )

• born alive with no obvious defects when the conditional deletion occurs in neural and glial tissue

Genotype
MGI:5646277

cn335

• Allelic Composition: Gt(ROSA)26Sor^{tm2(CAG-Lancl1)Pfw}/Gt(ROSA)26Sor^{tm2(CAG-Lancl1)Pfw}; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

decreased susceptibility to neuronal excitotoxicity ( J:214805 )

• cortical neurons treated with oxidative stress inducing agents (H2O2) show reduced cell death compared to wild-type controls

homeostasis/metabolism

decreased susceptibility to neuronal excitotoxicity ( J:214805 )

• cortical neurons treated with oxidative stress inducing agents (H2O2) show reduced cell death compared to wild-type controls

cellular

decreased susceptibility to neuronal excitotoxicity ( J:214805 )

• cortical neurons treated with oxidative stress inducing agents (H2O2) show reduced cell death compared to wild-type controls

Genotype
MGI:5762853

cn336

• Allelic Composition: Camta1^tm1.1Eno/Camta1^tm1.1Eno; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

Degeneration of Purkinje cells and cerebellar atrophy in Camta1^tm1.1Eno/Camta1^tm1.1Eno Tg(Nes-cre)1Kln/0 mice

mortality/aging

mortality/aging ( J:212232 )

N • mice exhibit normal survival up to 1 year of age, unlike Camta1^tm1.2Eno homozygotes

growth/size/body

decreased body size ( J:212232 )

• runting is seen in only a subset of mice and is less severe than in Camta1^tm1.2Eno homozygotes

behavior/neurological

ataxia ( J:212232 )

• severe ataxia by 6 weeks of age, as determined by several motor tasks and general observation

• fully penetrant at >3 months of age

impaired coordination ( J:212232 )

• impaired motor performance on the accelerating rotarod and beam walk tests by 6 weeks of age

• by 3 months, loss of motor coordination is fully penetrant and more pronounced in the hindlimbs

nervous system

abnormal Purkinje cell morphology ( J:212232 )

• Purkinje cells are reduced in size and disarrayed at 6 months of age

Purkinje cell degeneration ( J:212232 )

• severe loss of Purkinje cells at 3 months of age

• however, Purkinje cell number is normal at age 2-3 weeks of age

thin cerebellar granule layer ( J:212232 )

• significant decrease in the width of the cerebellar granular layer at 3 months of age

thin cerebellar molecular layer ( J:212232 )

• significant decrease in the width of the cerebellar molecular layer at 3 months of age

cerebellum atrophy ( J:212232 )

• progressive cerebellar atrophy with significant reduction in cerebellar size at 3 months of age

• however, cerebellar architecture is normal at 2-3 weeks of age

reproductive system

reduced fertility ( J:212232 )

• young mice breed at a reduced frequency

Genotype
MGI:3605043

cn337

• Allelic Composition: Ncdn^tm2Afu/Ncdn^tm2Afu; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

abnormal spatial learning ( J:99914 )

• at 8-10 weeks of age results from both training and probe sessions in a Morris water maze indicate spatial learning is impaired

impaired coordination ( J:99914 )

• at 6 months but not at 2-3 months of age, mutants display impaired performance in both the wire-hanging and rod-walking tests

seizures ( J:99914 )

• at 6 months of age, about 24% of mutants have epileptic seizures frequently observed when mice are placed into a new cage

nervous system

seizures ( J:99914 )

• at 6 months of age, about 24% of mutants have epileptic seizures frequently observed when mice are placed into a new cage

abnormal dentate gyrus morphology ( J:99914 )

• newborn neuroblasts generated from the subgranular zone of the dentate gyrus are increased and increased numbers of reactive astrocyte-like cells are seen in the hilus of the dentate gyrus

abnormal hippocampal mossy fiber morphology ( J:99914 )

• ectopic innervation of mossy fibers into the stratum oriens in the CA3 region is seen

abnormal astrocyte morphology ( J:99914 )

• GFAP- and S100B-expressing cells appear hypertrophic with thick processes from a large cell body

Genotype
MGI:7443114

cn338

• Allelic Composition: Cap1^tm1.1Mbrst/Cap1^tm1.1Mbrst; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:333563 )

nervous system

impaired neuron differentiation ( J:333563 )

• less fiber tracks in the cortical intermediate zone or in the striatum than in wild-type mice

• impaired neuron differentiation in a cellular system

• impaired growth cone morphology and motility

abnormal hippocampus morphology ( J:333563 )

• determined by Nissl-staining

• however, the cerebral cortex is normal at E18.5

abnormal Ammon gyrus morphology ( J:333563 )

• reduced length

abnormal neurite morphology ( J:333563 )

• reduced length and increased width

• however, neurite numbers and branching are normal

cellular

impaired neuron differentiation ( J:333563 )

• less fiber tracks in the cortical intermediate zone or in the striatum than in wild-type mice

• impaired neuron differentiation in a cellular system

• impaired growth cone morphology and motility

Genotype
MGI:3769122

cn339

• Allelic Composition: Map2k4^tm1Ctr/Map2k4^tm1Ctr; Tg(Nes-cre)1Kln/?
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:129038 )

• mice die by 21 days

nervous system

abnormal neuron differentiation ( J:129038 )

• radial migration of late-born neurons is delayed

• however, lamination of the cerebral cortex and radial glial cell formations are normal

decreased corpus callosum size ( J:129038 )

• at P20, the thickness of the corpus callosum is decreased due to defasciulation of cortical afferents

decreased anterior commissure size ( J:129038 )

• at P20, the thickness of the anterior commissure is decreased due to defasciulation of cortical afferents

abnormal cerebellar Purkinje cell layer ( J:129038 )

• unlike in wild-type mice, Purkinje cells that normally align beneath the inner granule layer are malpositioned

• at P20, the Purkinje cell layer is disorganized

• however, arborization of dendrites is normal

abnormal Purkinje cell morphology ( J:129038 )

• Purkinje cell size is reduced by 25% compared to wild-type

abnormal cerebellar granule layer morphology ( J:129038 )

• unlike in wild-type mice, the inner granule layer is loosely packed and Purkinje cells that normally align beneath it are malpositioned

behavior/neurological

impaired righting response ( J:129038 )

• at P14, mice exhibit impaired righting reflex when placed on their backs indicating decreased motor balance and coordination

tremors ( J:129038 )

• between P13 and P15, mice exhibit whole-body tremors

ataxia ( J:129038 )

• between P13 and P15

impaired coordination ( J:129038 )

• in a hanging wire test, mice are 5 times less able to hold onto a hanging wire

abnormal gait ( J:129038 )

• between P13 and P15, mice exhibit an awkward gait

growth/size/body

decreased body weight ( J:129038 )

• mice are noticeably smaller 7 days after birth and weight 40% of wild-type by day 20

postnatal growth retardation ( J:129038 )

• although mice are born normal they stop growing a few days after birth

cellular

abnormal neuron differentiation ( J:129038 )

• radial migration of late-born neurons is delayed

• however, lamination of the cerebral cortex and radial glial cell formations are normal

Genotype
MGI:5697531

cn340

• Allelic Composition: Auts2^tm1.1Dare/Auts2^tm1.1Dare; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

decreased food intake ( J:217675 )

• knockouts showed a significantly smaller milk band at P1

impaired righting response ( J:217675 )

• knockout mice show impairment in righting reflex relative to wild type from P3-P9, whereas heterozygotes are not impaired

positive geotaxis ( J:217675 )

• knockout mice took significantly longer to orient their nose to an upward position (turn 180o and face upwards on a slanted platform)

decreased vocalization ( J:217675 )

• knockout mice show significantly less ultrasonic vocalizations (USVs) than wild type following maternal separation across the majority of developmental time points measured

growth/size/body

decreased body length ( J:217675 )

• a striking visual and quantitative reduction in the body length of the knockout mice is sen relative to control littermates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant intellectual developmental disorder		DOID:0060307	OMIM:PS156200	J:217675

Genotype
MGI:7328688

cn341

• Allelic Composition: Kif2c^em1Nju/Kif2c^em1Nju; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

nervous system phenotype ( J:322820 )

N • mice exhibit normal prepulse inhibition

abnormal dendritic mushroom spine morphology ( J:322820 )

• reduced mushroom spine density in basal and apical dendrites of hippocampal neurons

decreased dendritic spine density ( J:322820 )

• reduced mushroom spine density in basal and apical dendrites of hippocampal neurons

increased dendritic spine density ( J:322820 )

• increased density of filopodia-type spines

abnormal synapse morphology ( J:322820 )

• reduced length and thickness of postsynaptic density fraction in the hippocampus

abnormal excitatory postsynaptic currents ( J:322820 )

• increased AMPAR-mediated EPSCs with increased surface AMPAR receptors

increased excitatory postsynaptic current amplitude ( J:322820 )

• of mEPSCs

abnormal miniature excitatory postsynaptic currents ( J:322820 )

• increased amplitude

• however, mice exhibit normal frequency of mEPSCs and PPRs

reduced long-term depression ( J:322820 )

• following single high-frequency stimulation (1x HFS) or 4-train LTP (4x HFS)

behavior/neurological

impaired conditioned place preference behavior ( J:322820 )

• in response to context or tone conditioned stimulus, mice exhibit less freezing time compared with wild-type mice

impaired cued conditioning behavior ( J:322820 )

• in response to context or tone conditioned stimulus, mice exhibit less freezing time compared with wild-type mice

abnormal spatial working memory ( J:322820 )

• impaired spontaneous alternation in a Y maze

decreased freezing behavior ( J:322820 )

• in response to context or tone conditioned stimulus, mice exhibit less freezing time compared with wild-type mice

abnormal response to social novelty ( J:322820 )

• mice exhibit reduced investigation of a novel stranger compared with the familiar mouse

• however, mice exhibit normal social investigation and over-expression restores normal interaction in the novel stranger test

Genotype
MGI:5816712

cn342

• Allelic Composition: Adk^tm2Bois/Adk^tm2Bois; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:237189 )

♂ • mice show increased susceptibility to induced seizures with the adenosine A1 receptor antagonist DPCPX, and a single high dose of DPCPX consistently triggers lethal status epilepticus in mutants but not controls

♂ • pretreatment with antagonists to adenosine A2a receptor (SCH58261) and TrkB (Ana-12) significantly extend the survival time after DPCPX-induced seizures

abnormal associative learning ( J:237189 )

♂ • associative learning in the conditioned freezing paradigm is decreased during conditioned stimulus 2

♂ • however, the percentage time freezing during conditioned stimulus 3 and 4 is increased compared with baseline conditioned stimulus 1 freezing indicating that mice show a general ability to learn

impaired contextual conditioning behavior ( J:237189 )

♂ • mice show a deficit in contextual memory with freezing rates comparable to baseline

♂ • however, mutants show no differences from controls in the elevated plus maze, acoustic startle response, or spatial working memory and the response to foot shock is normal

environmentally induced seizures ( J:237189 )

♂ • from 2 months of age, mice exhibit increased susceptibility to stress-induced seizures (placement in novel environment) which are characterized by tonic-clonic convulsions

♂ • by 3 months of age, 44% of mutants react with a seizure when placed into a novel environment, by 4 months, seizure incidence is 89% and by 6 months, 100%

♂ • the probability of an evoked seizure response rises from 7.4% at 2 months to 77% at 6 months

convulsive seizures ( J:237189 )

♂ • EEG recordings indicate spontaneous seizures with average seizure rate of 0.85 seizures per day and average duration of 43.6 +/- 7.4 seconds

nervous system

increased susceptibility to pharmacologically induced seizures ( J:237189 )

♂ • mice show increased susceptibility to induced seizures with the adenosine A1 receptor antagonist DPCPX, and a single high dose of DPCPX consistently triggers lethal status epilepticus in mutants but not controls

♂ • pretreatment with antagonists to adenosine A2a receptor (SCH58261) and TrkB (Ana-12) significantly extend the survival time after DPCPX-induced seizures

environmentally induced seizures ( J:237189 )

♂ • from 2 months of age, mice exhibit increased susceptibility to stress-induced seizures (placement in novel environment) which are characterized by tonic-clonic convulsions

♂ • by 3 months of age, 44% of mutants react with a seizure when placed into a novel environment, by 4 months, seizure incidence is 89% and by 6 months, 100%

♂ • the probability of an evoked seizure response rises from 7.4% at 2 months to 77% at 6 months

convulsive seizures ( J:237189 )

♂ • EEG recordings indicate spontaneous seizures with average seizure rate of 0.85 seizures per day and average duration of 43.6 +/- 7.4 seconds

abnormal synaptic plasticity ( J:237189 )

♂ • mice have increased adenosine A2a receptor-mediated synaptic plasticity

abnormal CNS synaptic transmission ( J:237189 )

♂ • mice have increased levels of synaptic adenosine

♂ • treatment of hippocampal slices from epileptic mutants with the adenosine A1 receptor antagonist DPCPX results in a higher disinhibition of synaptic transmission than controls

abnormal excitatory postsynaptic potential ( J:237189 )

♂ • maximum fEPSP slope is higher in mutant hippocampal slices than in controls

enhanced long-term potentiation ( J:237189 )

♂ • hippocampal slices show an increase in theta-burst-induced LTP magnitude

♂ • treatment with the adenosine A2a receptor-selective antagonist SCH58261resverses the LTP magnitude

♂ • treatment with the tyrosine kinase inhibitor K25a abolishes the increased LTP magnitude

Genotype
MGI:5517371

cn343

• Allelic Composition: Nr2c2^tm1Bbm/Nr2c2^tm1Bbm; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

behavior/neurological phenotype ( J:197895 )

N • mice exhibit normal performance in the Morris Water Maze and the open field test

decreased anxiety-related response ( J:197895 )

• mice exhibit a small increase in the time spent in the open arms of a zero maze compared with wild-type mice

impaired coordination ( J:197895 )

• mice exhibit impaired performance on a ledge test compared with wild-type mice

• however, mice exhibit normal performance on a rotarod unlike Nr2c2^tm1Chc homozygotes

abnormal touch/ nociception ( J:197895 )

• following nerve-injury induced persistent pain, mice exhibit less mechanical hyperalegsia with greater sensitized threshold compared with wild-type mice

• in a model of nerve injury-induced neuropathic pain or in the spared nerve injury model of neuropathic pain, mice exhibit a decreased magnitude of thermal hyperalgesia with absent mechanical hyperalgesia compared with wild-type mice

increased chemical nociceptive threshold ( J:197895 )

• in response to capsaicin or formalin

abnormal mechanical nociception ( J:197895 )

• mice exhibit increased reflex withdrawal thresholds in the von Frey test of mechanical pain compared with wild-type mice

increased thermal nociceptive threshold ( J:197895 )

• mice exhibit high response latencies in a hot plate test compared with wild-type mice

• however, mice exhibit normal response in the Hargreaves and tail immersion reflex withdrawal tests

nervous system

abnormal sympathetic afferent fiber morphology ( J:197895 )

• alteration of primary afferent terminations in the dorsal horn

decreased neuron number ( J:197895 )

• neuronal loss in the superficial dorsal horn

• selective loss of excitatory neurons in the superficial dorsal horn

• however, projection neurons are spared

abnormal neuron physiology ( J:197895 )

• mice exhibit decreased noxious stimulus-induced responsiveness of presumptive dorsal horn projection neurons compared with wild-type mice

growth/size/body

decreased body size ( J:197895 )

integument

decreased pruritus ( J:197895 )

• puritogen-induced itch is absent

Genotype
MGI:6455752

cn344

• Allelic Composition: Cic^tm1.1Jip/Cic^tm1.1Jip; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

decreased brain weight ( J:294338 )

• decreased brain volume by age P14

abnormal dentate gyrus morphology ( J:294338 )

• reduced neuronal density

thin cerebral cortex ( J:294338 )

• at age P14

abnormal cerebellar layer morphology ( J:294338 )

• thin cortex at age P14

mortality/aging

preweaning lethality, complete penetrance ( J:294338 )

• no pups survive beyond age P20-22

growth/size/body

postnatal growth retardation ( J:294338 )

• growth retardation from age P6, severe growth retardation by age P14

• normal size at birth

Genotype
MGI:3041706

cn345

• Allelic Composition: Pnpla6^tm1Mvc/Pnpla6^tm1Mvc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

abnormal thalamus morphology ( J:89288 )

abnormal hippocampus morphology ( J:89288 )

abnormal corticospinal tract morphology ( J:152759 )

• mice exhibit numerous axonal lesions in the corticospinal tract, especially in the major lateral tracts, unlike in wild-type mice

• axonal lesions are present in the lateral and ventral tracts at early ages and display Wallerian-like morphology unlike in wild-type mice

• in older mice, axons in the lumbar tracts are swollen unlike in wild-type mice

abnormal lateral corticospinal tract morphology ( J:152759 )

• at early ages, mice exhibit axonal lesions and in older mice the area of disordered structure becomes progressively larger unlike in wild-type mice

abnormal neuron morphology ( J:89288 )

• disruption of the endoplasmic reticulum

• vacuolation of nerve cell bodies

• abnormal reticular aggregates

decreased Purkinje cell number ( J:89288 )

abnormal axon morphology ( J:152759 )

• at P18 to P19, mice exhibit axonal lesions in the gracile nucleus in the medulla oblongata unlike wild-type mice

• by 3 months, the axonal lesions are at least twice as numerous

• degenerative axonal lesion consist of dark-staining axons with dense bodies comprising multilamellar figures or ovoids, translucent intra-axonal vacuoles and cytoskeletal elements

• mice exhibit swollen axons that progressively increase in size

neurodegeneration ( J:89288 )

• hippocampal neuron degeneration

behavior/neurological

abnormal motor coordination/balance ( J:89288 )

• impaired performance on rotarod at 6 months of age

• when tested at 1 month of age, performance was similar to wild-type

abnormal voluntary movement ( J:152759 )

• mice exhibit progressive hind limb dysfunction including clenching of hind limb digits, inability to support lower body in a been walking test at 4 months, and abnormal movement in an open field test at 14 months unlike wild-type mice

homeostasis/metabolism

abnormal phospholipid level ( J:152759 )

• at 1 to 3 months and 6 to 12 months, neural phosphatidylcholine levels are increased compared to in wild-type mice

growth/size/body

decreased body weight ( J:89288 )

Genotype
MGI:3641104

cn346

• Allelic Composition: Fgfr1^tm1Upir/Fgfr1^tm1Upir; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

abnormal dorsal telencephalic commissure morphology ( J:110263 )

• mice have defects in the dorsal telencephalic commissures

• all mutants have a complete absence of midline crossing at the most anterior and posterior region

abnormal corpus callosum morphology ( J:110263 )

• about 20% of mice have a small number of callosal fibers in the region above the hippocampal commissure

abnormal frontal lobe morphology ( J:110263 )

• axons are absent in the contralateral cortex or white matter

• the cortical fibers are trapped within Probst bundles

Genotype
MGI:4946935

cn347

• Allelic Composition: Lig3^tm1.1Pmc/Lig3^tm1.1Pmc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:170077 )

• mice do not survive beyond 20 days of age

nervous system

abnormal neuron differentiation ( J:170077 )

• granule neuron progenitors exhibit reduced proliferation and increased apoptosis compared to in wild-type mice

abnormal neuronal precursor proliferation ( J:170077 )

• reduced in the cerebellum

abnormal cerebellum development ( J:170077 )

decreased brain size ( J:170077 )

decreased cerebellar granule cell number ( J:170077 )

small cerebellum ( J:170077 )

abnormal astrocyte morphology ( J:170077 )

• cortical astrocytes exhibit mitochondrial defects, decreased mitochondrial DNA, and increased lactic acid compared to in wild-type mice

decreased oligodendrocyte number ( J:170077 )

abnormal astrocyte physiology ( J:170077 )

• DNA repair in response to ultraviolet irradiation or methylmethanesulphonate compared with wild-type astrocyte

• however, astrocytes exhibit normal DNA repair in response to ionizing radiation and hydrogen peroxide

cellular

abnormal neuron differentiation ( J:170077 )

• granule neuron progenitors exhibit reduced proliferation and increased apoptosis compared to in wild-type mice

abnormal neuronal precursor proliferation ( J:170077 )

• reduced in the cerebellum

abnormal cellular respiration ( J:170077 )

• brain cells exhibit defective mitochondria complex I activity and reduced oxidative metabolism compared with wild-type cells

abnormal DNA repair ( J:170077 )

• DNA repair in response to ultraviolet irradiation or methylmethanesulphonate compared with wild-type astrocyte

• however, astrocytes exhibit normal DNA repair in response to ionizing radiation and hydrogen peroxide

growth/size/body

microcephaly ( J:170077 )

postnatal growth retardation ( J:170077 )

• at 2 weeks of age

behavior/neurological

ataxia ( J:170077 )

• at 2 weeks of age

homeostasis/metabolism

abnormal DNA repair ( J:170077 )

• DNA repair in response to ultraviolet irradiation or methylmethanesulphonate compared with wild-type astrocyte

• however, astrocytes exhibit normal DNA repair in response to ionizing radiation and hydrogen peroxide

Genotype
MGI:6507211

cn348

• Allelic Composition: Phf6^tm1.1Avo/Y; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

growth/size/body

decreased body size ( J:299742 )

♂

decreased body weight ( J:299742 )

♂ • reduction in body weight evident by 3 weeks of age, corresponding to a 43% reduction in body weight

Genotype
MGI:4939605

cn349

• Allelic Composition: Mycbp2^tm1.1Klsc/Mycbp2^tm1.1Klsc; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

abnormal survival ( J:168745 )

• mice exhibit a lethal phenotype (no time point of death given)

Genotype
MGI:6887923

cn350

• Allelic Composition: Mios^tm1Pfw/Mios^tm1Pfw; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

decreased brain size ( J:320720 )

• slightly

abnormal forebrain morphology ( J:320720 )

• reduced gray and white matter

decreased oligodendrocyte number ( J:320720 )

dysmyelination ( J:320720 )

• in the corpus callosum and cortex

Genotype
MGI:4941467

cn351

• Allelic Composition: Srgap3^tm1Ssod/Srgap3^tm1Ssod; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

abnormal learning/memory/conditioning ( J:169533 )

• mice exhibit impaired long term memory in a novel recognition, water maze, and passive avoidance assay compared with wild-type mice

impaired passive avoidance behavior ( J:169533 )

• mice exhibit impaired long term memory in a novel recognition, water maze, and passive avoidance assay compared with wild-type mice

impaired long-term object recognition memory ( J:169533 )

• mice exhibit impaired long term memory in a novel recognition, water maze, and passive avoidance assay compared with wild-type mice

abnormal long-term spatial reference memory ( J:169533 )

• mice exhibit impaired long term memory in a novel recognition, water maze, and passive avoidance assay compared with wild-type mice

Genotype
MGI:3831434

cn352

• Allelic Composition: Gt(ROSA)26Sor^{tm4(Wnt7a)Amc}/?; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

abnormal vascular endothelial cell morphology ( J:142352 )

• ectopic expression of Wnt7a in the vascular endothelium outside the CNS of E12.5 embryos leads to expression of GLUT-1, a marker normally associated with the blood-brain barrier

Genotype
MGI:6455413

cn353

• Allelic Composition: Kat8^tm1.2Avo/Kat8^tm1.2Avo; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:291094 )

• no mice are present at 3 weeks after birth

lethality during fetal growth through weaning, incomplete penetrance ( J:291094 )

• nearly all mice die between E16.5 and birth

nervous system

abnormal brain vasculature morphology ( J:291094 )

• mice exhibit dilated brain microvessels and thinning of extracellular matrix with rare collapse and pericyte detachment compared with wild-type mice

enlarged lateral ventricles ( J:291094 )

abnormal cerebral cortex morphology ( J:291094 )

• severely disorganized at E16.5

• however, the cortex is normal at E14.5

abnormal embryonic/fetal subventricular zone morphology ( J:291094 )

• disorganized and hemorrhaging in the ganglionic eminence with extensive cell death

• however, no significant cell death is observed in the cortex at E14.5

cardiovascular system

abnormal brain vasculature morphology ( J:291094 )

• mice exhibit dilated brain microvessels and thinning of extracellular matrix with rare collapse and pericyte detachment compared with wild-type mice

abnormal pericyte morphology ( J:291094 )

• pericyte detachment from brain microvessels

• however, total number of pericytes are normal

hemorrhage ( J:291094 )

• in all mice at E14.5, in brain parenchyma

• most severe in the region of the ganglionic eminence

homeostasis/metabolism

increased fatty acids level ( J:291094 )

• in neurospheres

Genotype
MGI:5697533

cn354

• Allelic Composition: Auts2^tm1.1Dare/Auts2⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

decreased vocalization ( J:217675 )

• heterozygous mice show significantly less ultrasonic vocalizations (USVs) than wild type following maternal separation across the majority of developmental time points measured

growth/size/body

decreased body length ( J:217675 )

• a reduction in the body length of the heterozygous mice is seen relative to controls but heterozygotes show an intermediate phenotype relative to knockout littermates

Genotype
MGI:5467518

cn355

• Allelic Composition: Ric8a^tm1.1Zhua/Ric8a^tm1.1Zhua; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:191222 )

nervous system

abnormal cerebellum development ( J:191222 )

• however, granule cell precursor proliferation is normal

abnormal cerebellar foliation ( J:191222 )

• as in Ric8^tm1Zhua/Ric8^tm1Zhua Tg(GFAP-cre)25Mes mice

abnormal Bergmann glial cell morphology ( J:191222 )

• between E17.0 and E17.5, the interaction between Bergmann glia and basement membrane is disrupted

abnormal cerebellum lobule morphology ( J:191222 )

• no basement membrane separates neighboring lobules in the cerebellum and remains on the surface

cellular

abnormal basement membrane morphology ( J:191222 )

• no basement membrane separates neighboring lobules in the cerebellum and remains on the surface

Genotype
MGI:6719551

cn356

• Allelic Composition: Agap3^tm1Ygi/Agap3^tm1Ygi; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:306994 )

• survival is similar to in Agap3^tm1.1Ygi homozygotes

growth/size/body

decreased body size ( J:306994 )

decreased body weight ( J:306994 )

behavior/neurological

hyperactivity ( J:306994 )

• hyperactivity and increased distance traveled in an open-field test

increased locomotor activity ( J:306994 )

• in an open field test

Genotype
MGI:4399058

cn357

• Allelic Composition: Lhx2^tm1.1Ddmo/Lhx2^tm1.1Ddmo; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

abnormal neocortex morphology ( J:154611 )

• at P7, the cortices are half the size of the cortices in wild-type mice

• however, the piriform cortex and lateral cortex are positioned normally

Genotype
MGI:5528849

cn358

• Allelic Composition: Acot7^tm1.1Mwol/Acot7^tm1.1Mwol; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

homeostasis/metabolism

decreased susceptibility to induced hypothermia ( J:203753 )

• cold-challenged mice with or without an overnight fast maintain a higher body temperature compared with control mice

increased energy expenditure ( J:203753 )

• during a 24 hour fasting period

abnormal glucose homeostasis ( J:203753 )

• 2-fold increase in brain glucose with increased fructose-1,6-biphosphate and decreased 3-phosphoglycerate indicating altered glucose metabolism

• increased rate of glucose oxidation into carbon dioxide in the brain of fasted mice

abnormal lipid homeostasis ( J:203753 )

• increased fatty acid flux into complex lipids in the brains of fasted mice

abnormal circulating lipid level ( J:203753 )

increased fatty acids level ( J:203753 )

• nonesterified fatty acid content in the brain of fasted mice

increased circulating free fatty acids level ( J:203753 )

• in fasted mice

abnormal phospholipid level ( J:203753 )

• increased in the brain of fasted mice

increased triglyceride level ( J:203753 )

• in the brain of fasted mice

increased circulating triglyceride level ( J:203753 )

• in fasted mice

increased liver triglyceride level ( J:203753 )

• in fasted mice

behavior/neurological

behavior/neurological phenotype ( J:203753 )

N • mice fed standard chow or a high fat diet exhibit normal food intake

abnormal behavior ( J:203753 )

• during a ledge and clasp test, aged mice exhibit greater scores indicating a neurological defect compared with wild-type mice

• however, mice do not exhibit increased anxiety in an open field test

impaired coordination ( J:203753 )

• in aged mice

decreased locomotor activity ( J:203753 )

• fewer beam breaks in aged mice

hyperactivity ( J:203753 )

• during a 24 hour fasting period in young mice

nervous system

gliosis ( J:203753 )

• at 24 and 40, but not 8, weeks of age

decreased neuron number ( J:203753 )

• lower neuron cell density in the cerebellum of aged mice

neurodegeneration ( J:203753 )

• progressive

decreased prepulse inhibition ( J:203753 )

adipose tissue

increased total body fat amount ( J:203753 )

increased gonadal fat pad weight ( J:203753 )

increased inguinal fat pad weight ( J:203753 )

growth/size/body

decreased lean body mass ( J:203753 )

• without a change in fasting serum creatine kinase

liver/biliary system

increased liver triglyceride level ( J:203753 )

• in fasted mice

hepatic steatosis ( J:203753 )

Genotype
MGI:3839916

cn359

• Allelic Composition: Gt(ROSA)26Sor^{tm2(GFP/tetX)Gld}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

nervous system

abnormal CNS synaptic transmission ( J:147245 )

• block of synaptic transmission between spinal neurons that is necessary for fictive locomotion

Genotype
MGI:3838804

cn360

• Allelic Composition: Ccm2^tm1Kwhi/Ccm2^tm1.1Kwhi; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:146527 )

• no vasculature defects are observed during development

• homozygote mice are born at the expected ratios

Genotype
MGI:6514806

cn361

• Allelic Composition: Eva1a^tm1Nju/Eva1a^tm1Nju; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

cellular

impaired autophagy ( J:301660 )

homeostasis/metabolism

impaired autophagy ( J:301660 )

nervous system

abnormal neurite morphology ( J:301660 )

• short

abnormal neuronal stem cell physiology ( J:301660 )

• impaired neural stem cells differentiation

• however, overexpression of wild-type protein or treatment with methylpyruvate and rapamycin restores differentiation

decreased neuronal stem cell self-renewal ( J:301660 )

• fewer newborn neural stem cells (NSCs) in E12.5 mice without an increase in apoptosis

• NSCs produce smaller-sized neurospheres compared with control cells

• however, overexpression of wild-type protein restores self-renewal

Genotype
MGI:3587022

cn362

• Allelic Composition: Gt(ROSA)26Sor^{tm1(rtTA,EGFP)Nagy}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0; Tg(tetO-Vegfa)90Ala/0
• Genetic Background: mixed

cardiovascular system

intracranial hemorrhage ( J:99607 )

• administration of doxycycline to pregnant dam starting at day E1.5 and consequent VEGF-A164 expression in neural cell lineage caused vascular abnormalities by E12.5 associated with spinal cord and brain hemorrhages

spinal hemorrhage ( J:99607 )

• administration of doxycycline to pregnant dam starting at day E1.5 and consequent VEGF-A164 expression in neural cell lineage caused vascular abnormalities by E12.5 associated with spinal cord and brain hemorrhages

nervous system

intracranial hemorrhage ( J:99607 )

• administration of doxycycline to pregnant dam starting at day E1.5 and consequent VEGF-A164 expression in neural cell lineage caused vascular abnormalities by E12.5 associated with spinal cord and brain hemorrhages

spinal hemorrhage ( J:99607 )

• administration of doxycycline to pregnant dam starting at day E1.5 and consequent VEGF-A164 expression in neural cell lineage caused vascular abnormalities by E12.5 associated with spinal cord and brain hemorrhages

behavior/neurological

behavior/neurological phenotype ( J:99607 )

N • administration of doxycycline in the drinking water to 3-4 month old mice and consequent VEGF-A164 expression in neural cell lineage did not cause obvious gross behavioral or phenotypic abnormalities in brain after 5 days of treatment

Genotype
MGI:3767836

cn363

• Allelic Composition: Fgfr1^tm1Upir/Fgfr1^tm1Upir; Tg(Mnx1-GFP)1Slp/?; Tg(Nes-cre)1Kln/?
• Genetic Background: Not Specified

nervous system

abnormal axon guidance ( J:122940 )

• mice display motor axon guidance defects in the area where medial-class spinal motor neuron axons turn from the spinal nerve towards the dermomyotome

abnormal motor neuron morphology ( J:122940 )

• mice display motor axon guidance defects in the area where medial-class spinal motor neuron axons turn from the spinal nerve towards the dermomyotome

• motor neuron axons are less fasciculated than in heterozygotes

• unlike in wild-type mice, motor neuron axons growth far into the dorsal root ganglia

cellular

abnormal axon guidance ( J:122940 )

• mice display motor axon guidance defects in the area where medial-class spinal motor neuron axons turn from the spinal nerve towards the dermomyotome

Genotype
MGI:5004891

tg364

• Allelic Composition: Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

behavior/neurological

behavior/neurological phenotype ( J:232071 )

N • locomotion, general exploratory activity, learning and memory, sociability, startle response, and sensorimotor gating are similar to controls

impaired contextual conditioning behavior ( J:232071 , J:351261 )

• reduction in freezing response to context (J:232071)

♂ • in male, but not female, mice at P90, but not P23 (J:351261)

impaired cued conditioning behavior ( J:232071 )

• reduction in freezing response to cue(tone)

decreased food intake ( J:207713 )

growth/size/body

decreased body weight ( J:207713 , J:232071 )

• body weight is reduced by 11.2% as compared to littermate controls (J:232071)

adipose tissue

decreased mesenteric fat pad weight ( J:207713 )

homeostasis/metabolism

increased insulin sensitivity ( J:207713 )