Phenotypes associated with this allele

• Allele Symbol: Tg(Tek-cre)1Ywa
• Allele Name: transgene insertion 1, Masashi Yanagisawa
• Allele ID: MGI:2450311
• Summary: 158 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nras^tm1Tyj/Nras^+ Tg(Tek-cre)1Ywa/0	B6.Cg-Nras^tm1Tyj Tg(Tek-cre)1Ywa	MGI:7544842
cn2	Snai1^tm1.1Stjw/Snai1^tm1.1Stjw Tg(Tek-cre)1Ywa/0	B6.Cg-Snai1^tm1.1Stjw Tg(Tek-cre)1Ywa	MGI:5659607
cn3	Arg1^tm1Pmu/Arg1^tm1Pmu Tg(Tek-cre)1Ywa/?	B6.Cg-Tg(Tek-cre)1Ywa Arg1^tm1Pmu	MGI:3826863
cn4	Ccm2^tm1Etl/Ccm2^tm1Etl Tg(Tek-cre)1Ywa/0	B6.Cg-Tg(Tek-cre)1Ywa Ccm2^tm1Etl	MGI:3837692
cn5	Fcgrt^tm1Esw/Fcgrt^tm1Esw Tg(Tek-cre)1Ywa/0	B6.Cg-Tg(Tek-cre)1Ywa Fcgrt^tm1Esw	MGI:3838507
cn6	Igf1r^tm2Arge/Igf1r^+ Tg(Tek-cre)1Ywa/0	B6.Cg-Tg(Tek-cre)1Ywa Igf1r^tm2Arge	MGI:5568546
cn7	Itga5^tm2Hyn/Itga5^tm2Hyn Tg(Tek-cre)1Ywa/0	B6.Cg-Tg(Tek-cre)1Ywa Itga5^tm2Hyn	MGI:4818938
cn8	Nrp1^tm2Ddg/Nrp1^tm2Ddg Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6	MGI:3512126
cn9	Nrp1^tm2Ddg/Nrp1^tm2.1Ddg Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6	MGI:3512130
cn10	Itga5^tm1Hyn/Itga5^tm2Hyn Tg(H2-K1-tsA58)6Kio/0 Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * C57BL/10 * CBA/Ca * SJL	MGI:4818936
cn11	Cd40lg^tm1Parl/Cd40lg^tm1Parl Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5585446
cn12	Cd40lg^tm1Parl/Y Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * CD-1 * SJL	MGI:5585444
cn13	Acvr1^tm1Glh/Acvr1^tm1Vk Gt(ROSA)26Sor^tm1.2(CAG-EGFP)Glh/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * FVB/N * SJL	MGI:7278774
cn14	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5439509
cn15	Sox7^tm1.1Nat/Sox7^tm1.1Nat Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:7550407
cn16	Notch1^tm1Agt/Notch1^tm1Agt Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:3710249
cn17	Itga5^tm1Hyn/Itga5^tm2Hyn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:4818935
cn18	Gt(ROSA)26Sor^tm1Sho/0 Itga5^tm2Hyn/Itga5^tm1Hyn Itgav^tm2Hyn/Itgav^+ Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:4818939
cn19	Gt(ROSA)26Sor^tm1Sho/0 Itga5^tm2Hyn/Itga5^tm1Hyn Itgav^tm1Hyn/Itgav^tm2Hyn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:4818940
cn20	F8^tm1.1Rmnt/F8^tm1.1Rmnt Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5582835
cn21	Gata5^tm1.1Nemr/Gata5^tm1.1Nemr Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5296321
cn22	Gata4^tm1Grg/Gata4^tm1.1Wtp Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5427937
cn23	Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn Ccm2^tm1Mlkn/Ccm2^+ Heg1^tm1Mlkn/Heg1^tm2.1Mlkn Tg(Tek-cre)1Ywa/0	involves: 129 * C57BL/6 * SJL	MGI:5439515
cn24	Jun^tm1Pa/Jun^tm4Wag Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL	MGI:7562249
cn25	Gt(ROSA)26Sor^tm1(PDGFB)Cbet/Gt(ROSA)26Sor^+ Pdgfb^tm1Cbet/Pdgfb^tm1Cbet Tg(Fabp4-lacZ)4Mosh/0 Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * FVB/N * SJL	MGI:4849465
cn26	Gt(ROSA)26Sor^tm1(PDGFB)Cbet/Gt(ROSA)26Sor^tm1(PDGFB)Cbet Pdgfb^tm1Cbet/Pdgfb^tm1Cbet Tg(Fabp4-lacZ)4Mosh/0 Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * FVB/N * SJL	MGI:4849467
cn27	Gt(ROSA)26Sor^tm1(PDGFB)Cbet/Gt(ROSA)26Sor^tm1(PDGFB)Cbet Pdgfb^tm1Cbet/Pdgfb^tm1Cbet Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL	MGI:4849466
cn28	Gt(ROSA)26Sor^tm1(PDGFB)Cbet/Gt(ROSA)26Sor^+ Pdgfb^tm1Cbet/Pdgfb^tm1Cbet Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL	MGI:4849464
cn29	Arap3^tm1.1Sve/Arap3^tm1.2Sve Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 * SJL	MGI:5428758
cn30	Ednrb^tm1Yko/Ednrb^tm1Yko Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * Bkl:BKW * C57BL/6 * SJL	MGI:3804904
cn31	Nrp1^tm1Hfu/Nrp1^tm2Ddg Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL	MGI:5432163
cn32	Gt(ROSA)26Sor^tm18(Zeb2)Jhai/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/0 Trp53^tm1Brn/Trp53^tm1Brn	involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL	MGI:6195748
cn33	Smad5^tm1Huy/Smad5^tm1.1Huy Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL	MGI:3710362
cn34	Tg(Tek-cre)1Ywa/0 Trp53^tm1Brn/Trp53^tm1Brn	involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL	MGI:6195749
cn35	Gt(ROSA)26Sor^tm18(Zeb2)Jhai/Gt(ROSA)26Sor^tm18(Zeb2)Jhai Tg(Tek-cre)1Ywa/0 Trp53^tm1Brn/Trp53^tm1Brn	involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL	MGI:6195747
cn36	Cxcl12^tm1Tng/Cxcl12^tm1.1Link Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL	MGI:5468943
cn37	Jun^tm4Wag/Jun^tm4Wag Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:7562246
cn38	Pik3cb^tm1Bvan/Pik3cb^tm1Bvan Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3796333
cn39	Nus1^tm1.1Qrm/Nus1^tm1.1Qrm Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6361029
cn40	Itgav^tm2Hyn/Itgav^tm2.1Hyn Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:5306154
cn41	Pik3ca^tm3Bvan/Pik3ca^tm3Bvan Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3796332
cn42	Adam10^tm2Psa/Adam10^tm2Psa Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:6852794
cn43	Sox9^tm1Gsr/Sox9^tm1Gsr Tg(Tek-cre)1Ywa/0	involves: 129P2/OlaHsd * C57BL/6 * SJL	MGI:3710208
cn44	Gna13^tm1Soff/Gna13^tm2Cgh Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * SJL	MGI:3590664
cn45	Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:4441398
cn46	Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa Rbpj^tm1Hon/Rbpj^tm1Hon Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:4441397
cn47	Fzd4^tm1Nat/Fzd4^tm2.1Nat Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4948329
cn48	Agrn^tm1Rwb/Agrn^tm1Rwb Tg(APPswe,PSEN1dE9)85Dbo/? Tg(Tek-cre)1Ywa/?	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL	MGI:5692156
cn49	Gata4^tm1.1Sad/Gata4^+ Glyr1^em1Dsr/Glyr1^+ Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL	MGI:7279301
cn50	Cd2bp2^tm1.1Tbh/Cd2bp2^tm1.1Tbh Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL	MGI:6392049
cn51	Ndst1^tm1Je/Ndst1^tm1Je Ndst2^tm1Lkj/Ndst2^tm1Lkj Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3589870
cn52	Agrn^tm1Rwb/Agrn^tm1Rwb Tg(Tek-cre)1Ywa/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5692155
cn53	Hif1a^tm3Rsjo/Hif1a^tm3Rsjo Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4418479
cn54	Ctnnb1^tm2Kem/Ctnnb1^tm2Kem Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5581949
cn55	Fzd4^tm1Nat/Fzd4^tm2.1Nat Tg(Tek-cre)1Ywa/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4412188
cn56	Ctnnb1^tm2Kem/Ctnnb1^+ Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5581948
cn57	Ptges^tm1.1Gaf/Ptges^tm1.1Gaf Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5570546
cn58	Ndst1^tm1Je/Ndst1^tm1Je Robo4^tm1Kzh/Robo4^tm1Kzh Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5562654
cn59	Ndst1^tm1Je/Ndst1^tm1Je Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3589869
cn60	Ndst1^tm1Je/Ndst1^tm1Je Slit3^tm1.1Dor/Slit3^tm1.1Dor Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5562649
cn61	Gt(ROSA)26Sor^tm1(Bmi1)Aiwa/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5496651
cn62	Ndst1^tm1Je/Ndst1^tm1Je Slit3^tm1.1Dor/Slit3^+ Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5562648
cn63	Nf1^tm1Par/Nf1^tm1Par Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3710234
cn64	Ndst1^tm1Je/Ndst1^tm1Je Robo4^tm1Kzh/Robo4^+ Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5562651
cn65	Foxp1^tm2.1Eem/Foxp1^tm2.1Eem Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:4829789
cn66	Prox1^tm1Gco/Prox1^tm2Gco Tg(Tek-cre)1Ywa/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3759503
cn67	Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3710231
cn68	Gata4^tm1.1Sad/Gata4^tm1.1Sad Tg(Tek-cre)1Ywa/?	involves: 129S1/Sv * 129X1/SvJ * CD-1	MGI:3053001
cn69	Prox1^tm2Gco/Prox1^+ Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * C57BL/6 * NMRI * SJL	MGI:3611343
cn70	Zfpm2^tm1Sho/Zfpm2^tm2Sho Tg(Tek-cre)1Ywa/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:3851403
cn71	Rasa3^tm1.1Llp/Rasa3^tm1.1Llp Tg(Tek-cre)1Ywa/?	involves: 129S1/SvImJ * C57BL/6J * SJL/J	MGI:6510800
cn72	Pros1^tm1Grl/Pros1^tm1Grl Tg(Tek-cre)1Ywa/0	involves: 129S1/SvImJ * C57BL/6 * SJL	MGI:5499117
cn73	Nfatc1^tm1Glm/Nfatc1^tm1Glm Tg(Tek-cre)1Ywa/0 Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * SJL	MGI:5432552
cn74	Msx1^tm1Rem/Msx1^tm1Rem Msx2^tm1Yvla/Msx2^tm1Yvla Tg(Tek-cre)1Ywa/0	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * NMRI * SJL	MGI:5297712
cn75	Itgav^tm2Hyn/Itgav^tm2.1Hyn Tg(Tek-cre)1Ywa/?	involves: 129S2/SvPas * C57BL/6 * FVB * SJL	MGI:3759849
cn76	Egr2^tm3Pch/Egr2^tm3Pch Tg(Tek-cre)1Ywa/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5762545
cn77	Tg(Tek-cre)1Ywa/0 Thbd^tm2Rdr/Thbd^tm2Wlr	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3844980
cn78	Xbp1^tm1.1Geno/Xbp1^tm1.1Geno Tg(Tek-cre)1Ywa/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5576524
cn79	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(Tek-cre)1Ywa/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5699726
cn80	Vgll4^tm1b(EUCOMM)Hmgu/Vgll4^tm1c(EUCOMM)Hmgu Yap1^tm1.1Fcam/Yap1^+ Tg(Tek-cre)1Ywa/0	involves: 129S4/SvJae * C57BL/6N * CBA * SJL	MGI:6360911
cn81	Socs1^tm1Ayos/Socs1^tm1Ayos Tg(Tek-cre)1Ywa/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3783710
cn82	Pparg^tm2Rev/Pparg^tm2Rev Tg(Tek-cre)1Ywa/?	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5444193
cn83	Pkd1^tm1Ggg/Pkd1^tm2Ggg Tg(Tek-cre)1Ywa/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:4843167
cn84	Slc25a37^tm1.1Kapl/Slc25a37^tm1.2Kapl Tg(Tek-cre)1Ywa/?	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J * C57BL/6NCr * SJL	MGI:5014818
cn85	Pgp^tm1.1Ango/Pgp^tm1.1Ango Tg(Tek-cre)1Ywa/0	involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL	MGI:6150907
cn86	Pdgfrb^tm14(Pdgfrb)Sor/Pdgfrb^+ Tg(Tek-cre)1Ywa/0	involves: 129S4/SvJaeSor * C57BL/6 * SJL	MGI:5140931
cn87	Cd99l2^tm1.1Dvst/Cd99l2^tm1.1Dvst Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * BALB/c * C57BL/6	MGI:6147345
cn88	Gt(ROSA)26Sor^tm1(ADGRG6)Jlp/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl * SJL	MGI:7442271
cn89	Adgrg6^em2Jlp/Adgrg6^em2Jlp Gt(ROSA)26Sor^tm1(ADGRG6)Jlp/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl * SJL	MGI:7442273
cn90	Krit1^tm1Kwhi/Krit1^tm1.1Kwhi Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl * SJL	MGI:5661914
cn91	Zfpm1^tm4Sho/Zfpm1^tm4Sho Tg(Gata1-Zfpm1)1Sho/0 Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * CD-1 * SJL	MGI:3586390
cn92	Acvr1^tm1Glh/Acvr1^+ Gt(ROSA)26Sor^tm1.2(CAG-EGFP)Glh/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6J * FVB/N * SJL	MGI:7278772
cn93	Vgll4^tm1b(EUCOMM)Hmgu/Vgll4^tm1c(EUCOMM)Hmgu Gt(ROSA)26Sor^tm14(CAG-tdTomato)Hze/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6NCrl * CBA * SJL	MGI:6360909
cn94	S1pr1^tm1Rlp/S1pr1^tm2Rlp Tg(Tek-cre)1Ywa/?	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:2681954
cn95	Edn1^tm1Ywa/Edn1^tm1Ywa Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5490276
cn96	Hdac7^tm1Eno/Hdac7^tm2Eno Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3695494
cn97	Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4947946
cn98	Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4844106
cn99	Stat5a^tm2Mam/Stat5a^tm2Mam Stat5b^tm1Mam/Stat5b^tm1Mam Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4844105
cn100	Hey2^tm1Eno/Hey2^tm2Eno Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:3711336
cn101	Ppp3r1^tm2Grc/Ppp3r1^tm2Grc Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4366032
cn102	Pbx1^tm1Mlc/Pbx1^tm3.1Mlc Tg(Tek-cre)1Ywa/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4352855
cn103	Tbx1^tm1Bld/Tbx1^tm3Bld Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:3046801
cn104	Gja1^tm1Dlg/Gja1^tm1Dlg Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6	MGI:2176965
cn105	Rbpj^tm1Hon/Rbpj^tm1Hon Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:4441396
cn106	Tg(CAG-lacZ,-BMPR1A*,-EGFP)1Mis/0 Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:5444494
cn107	Fkbp1a^tm1.1Shou/Fkbp1a^tm1Zuk Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:5490245
cn108	Tbx1^tm1Bld/Tbx1^tm3Bld Tg(Tek-cre)1Ywa/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:4453460
cn109	Nf1^tm1Fcr/Nf1^tm1Par Tg(Tek-cre)1Ywa/0	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3689709
cn110	Gt(ROSA)26Sor^tm1Fia/Gt(ROSA)26Sor^+ Nf1^tm1Fcr/Nf1^tm1Par Tg(Tek-cre)1Ywa/0	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3689708
cn111	Plxnd1^tm1.1Tmj/Plxnd1^tm1.1Tmj Tg(Tek-cre)1Ywa/0	involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * SJL	MGI:3848821
cn112	Pkd2^tm1.1Tjwt/Pkd2^tm1.1Tjwt Tg(Tek-cre)1Ywa/0	involves: 129S/SvEv * 129X1/SvJ * C57BL/6 * SJL	MGI:4843169
cn113	Ets1^tm1Jml/Ets1^tm1Jml Ets2^tm5.1Rgo/Ets2^tm5.1Rgo Tg(Tek-cre)1Ywa/0	involves: 129S/SvEv * C57BL/6 * FVB/N	MGI:4353416
cn114	Sox7^tm1Dsco/Sox7^tm1.1Dsco Tg(Tek-cre)1Ywa/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:7543476
cn115	Sox7^tm1Dsco/Sox7^tm1Dsco Tg(Tek-cre)1Ywa/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:7543477
cn116	Ppargc1b^tm1.2Rev/Ppargc1b^tm1.2Rev Tg(Tek-cre)1Ywa/0	involves: 129/Sv * C57BL/6 * C57BL/6J * SJL	MGI:4461914
cn117	Ctnnb1^tm1Mmt/Ctnnb1^+ Tg(Tek-cre)1Ywa/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:5581955
cn118	Foxm1^tm1Rhc/Foxm1^tm1Rhc Tg(Tek-cre)1Ywa/0	involves: 129X1/SvJ * C57BL/6 * SJL	MGI:3710341
cn119	Chd7^tm2a(EUCOMM)Wtsi/Chd7^tm2a(EUCOMM)Wtsi Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6J * C57BL/6N * SJL	MGI:7493911
cn120	Eogt^tm1.1Okaj/Eogt^tm1.1Okaj Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:7640065
cn121	Snrk^tm2Rra/Snrk^tm2Rra Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:5792712
cn122	Chd3^tm1.1Cya/Chd3^tm1.1Cya Chd4^tm1.1Kge/Chd4^tm1.1Kge Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:6456933
cn123	Foxc2^tm1.1Miu/Foxc2^tm1.1Miu Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:6879489
cn124	Chd3^tm1.1Cya/Chd3^tm1.1Cya Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6J * SJL	MGI:6456932
cn125	Npr1^tm1.1Kkan/Npr1^tm1.1Kkan Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL	MGI:5792676
cn126	Spns2^tm1.1Nmoc/Spns2^tm1.1Nmoc Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL	MGI:5426398
cn127	Gt(ROSA)26Sor^tm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL	MGI:5527434
cn128	Bcas3^tm1Msin/Bcas3^tm1Msin Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL	MGI:6195768
cn129	Eps15^tm1c(KOMP)Wtsi/Eps15^tm1c(KOMP)Wtsi Eps15l1^tm2.1Noff/Eps15l1^tm2.1Noff Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:6509037
cn130	Hacd2^tm1b(EUCOMM)Hmgu/Hacd2^tm1c(EUCOMM)Hmgu Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:7447126
cn131	Eps15^tm1c(KOMP)Wtsi/Eps15^tm1c(KOMP)Wtsi Eps15l1^tm1.1Noff/Eps15l1^tm1.1Noff Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:6509036
cn132	Commd9^tm1c(KOMP)Wtsi/Commd9^tm1c(KOMP)Wtsi Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:5796350
cn133	Pfn1^tm1Foxp/Pfn1^tm1Foxp Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * C57BL/6NTac * SJL	MGI:5470091
cn134	Gt(ROSA)26Sor^tm18(Zeb2)Jhai/Gt(ROSA)26Sor^tm18(Zeb2)Jhai Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * CD-1 * SJL	MGI:6195746
cn135	Tg(CAG-cat,-Ptpn11*Q510E)#Krnz/0 Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * FVB/N * SJL	MGI:5828598
cn136	Mfsd2a^tm1c(KOMP)Wtsi/Mfsd2a^tm1c(KOMP)Wtsi Tg(Tek-cre)1Ywa/0	involves: C57BL/6J * C57BL/6N	MGI:5806300
cn137	Vgll4^tm1b(EUCOMM)Hmgu/Vgll4^tm1c(EUCOMM)Hmgu Tg(Tek-cre)1Ywa/0	involves: C57BL/6N * CBA * SJL	MGI:6360907
cn138	Anxa3^tm1c(EUCOMM)Hmgu/Anxa3^tm1c(EUCOMM)Hmgu Tg(Tek-cre)1Ywa/0	involves: C57BL/6N * SJL	MGI:6416300
cn139	Irx3^tm3Hui/Irx3^tm3Hui Irx5^tm3Hui/Irx5^tm3Hui Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5444490
cn140	Adgrg6^em3Jlp/Adgrg6^em3Jlp Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:7442264
cn141	Ddah1^tm1Geno/Ddah1^tm1Geno Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5897606
cn142	Ccm2^tm1Kwhi/Ccm2^tm1.1Kwhi Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:3838812
cn143	Sart3^tm1.1Hbro/Sart3^+ Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5052129
cn144	Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi Tg(Tek-cre)1Ywa/?	involves: C57BL/6 * SJL	MGI:5052326
cn145	Ccm2^tm2.1Sbn/Ccm2^tm2.1Sbn Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5085318
cn146	Lama5^tm1Lsor/Lama5^tm1Lsor Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5555041
cn147	Tnfrsf21^tm2Gne/Tnfrsf21^tm2Gne Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5312098
cn148	Adgrg6^em2Jlp/Adgrg6^em3Jlp Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:7442268
cn149	Phf6^tm1.1Avo/Y Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:6507173
cn150	Gt(ROSA)26Sor^tm4(EWSR1/ATF1)Mrc/Gt(ROSA)26Sor^+ Tg(Tek-cre)1Ywa/?	involves: C57BL/6 * SJL	MGI:5495315
cn151	Hprt1^tm1(H1-RNAi:Tmsb4x)Prri/Hprt1^+ Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5487451
cn152	Plekhg5^tm1Jbar/Plekhg5^tm1Jbar Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5484864
cn153	Prkaa2^tm1.1Sjm/Prkaa2^tm1.1Sjm Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:6449118
cn154	Etv2^tm1Vkou/Etv2^tm1Vkou Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5474868
cn155	Lmna^tm1Bliu/Lmna^tm1Bliu Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:6423604
cn156	Tmem100^tm1.1Ysai/Tmem100^tm2.1Ysai Tg(Tek-cre)1Ywa/0	involves: C57BL/6 * SJL	MGI:5432907
cn157	F11r^tm1Dej/F11r^tm1.1Dej Tg(Tek-cre)1Ywa/0	Not Specified	MGI:3054867
tg158	Tg(Tek-cre)1Ywa/Tg(Tek-cre)1Ywa	involves: C57BL/6 * SJL	MGI:6415042

Genotype
MGI:7544842

cn1

• Allelic Composition: Nras^tm1Tyj/Nras⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: B6.Cg-Nras^tm1Tyj Tg(Tek-cre)1Ywa

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:305401 )

• live embryos are recovered at normal numbers at E14.5; however, all embryos die by E17.5

cardiovascular system

myocardial hypertrabeculation ( J:305401 )

• at E13.5, three of 5 hearts exhibit myocardial hypertrabeculation

thin ventricle myocardium compact layer ( J:305401 )

• at E13.5, three of 5 hearts exhibit a thin compact layer with a deeply invaginated trabecular layer

double outlet right ventricle ( J:305401 )

• at E13.5, two of 5 hearts exhibit DORV

ventricular septal defect ( J:305401 )

• at E13.5, two of 5 hearts show ventricular septal defects (VSDs)

pulmonary valve stenosis ( J:305401 )

• at E13.5, two of 5 hearts exhibit pulmonary valve stenosis

muscle

myocardial hypertrabeculation ( J:305401 )

• at E13.5, three of 5 hearts exhibit myocardial hypertrabeculation

thin ventricle myocardium compact layer ( J:305401 )

• at E13.5, three of 5 hearts exhibit a thin compact layer with a deeply invaginated trabecular layer

Genotype
MGI:5659607

cn2

• Allelic Composition: Snai1^tm1.1Stjw/Snai1^tm1.1Stjw; Tg(Tek-cre)1Ywa/0
• Genetic Background: B6.Cg-Snai1^tm1.1Stjw Tg(Tek-cre)1Ywa

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:214991 )

• by E11.5 and E12.5, approximately 50 and 100% of mice die, respectively

cardiovascular system

abnormal brain vasculature morphology ( J:214991 )

• cranial blood vessels fail to undergo remodeling events

abnormal placental labyrinth vasculature morphology ( J:214991 )

• decreased vascularization with fewer fetal blood vessels invading

abnormal angiogenesis ( J:214991 )

abnormal developmental vascular remodeling ( J:214991 )

• cranial blood vessels fail to undergo remodeling events

• at E11.5 about 50% of embryos are necrotic with no intact vascular structures

abnormal vascular branching morphogenesis ( J:214991 )

• intersomitic vessels form but are unable to organize or full infiltrate the somites, displaying significant decreases in vessel length and branch points

decreased angiogenesis ( J:214991 )

• impaired vascularization of the tail with the formation of truncated and disorganized networks

decreased atrioventricular cushion size ( J:214991 )

• decrease in the number of mesenchymal cells in the atrioventricular canal

embryo

abnormal placental labyrinth vasculature morphology ( J:214991 )

• decreased vascularization with fewer fetal blood vessels invading

decreased embryo size ( J:214991 )

• at E10.5 and E11.5 crown to rump length is decreased by 32 and 47%, respectively, compared to control littermates

thin placenta labyrinth ( J:214991 )

abnormal vitelline vascular remodeling ( J:214991 )

• severely defective remodeling of the primary vascular plexus at E10.5

growth/size/body

decreased embryo size ( J:214991 )

• at E10.5 and E11.5 crown to rump length is decreased by 32 and 47%, respectively, compared to control littermates

nervous system

abnormal brain vasculature morphology ( J:214991 )

• cranial blood vessels fail to undergo remodeling events

Genotype
MGI:3826863

cn3

• Allelic Composition: Arg1^tm1Pmu/Arg1^tm1Pmu; Tg(Tek-cre)1Ywa/?
• Genetic Background: B6.Cg-Tg(Tek-cre)1Ywa Arg1^tm1Pmu

immune system

abnormal macrophage physiology ( J:143229 )

• very little urea is produced by peritoneal macrophages in response to IL-4 and IL-10 incubation due to a lack of arginase activity

increased macrophage nitric oxide production ( J:143229 )

• macrophages produce more nitrous oxide in response to LPS stimulation or Mycobacterium bovis infection

decreased susceptibility to bacterial infection ( J:143229 )

• mice infected with M. tuberculosis have lower bacterial counts than wild-type littermates in the lungs after the initial bacterial growth period

• there is also lower bacterial load in the spleens of the mice 70 days after infection with M. tuberculosis

• lung granulomas in these infected mice occupy a smaller fraction of the total lung area and have a more pronounced lymphocytic infiltrate

homeostasis/metabolism

abnormal nitric oxide homeostasis ( J:143229 )

• there is more NO activity in liver granulomas of mice infected with M. tuberculosis

increased macrophage nitric oxide production ( J:143229 )

• macrophages produce more nitrous oxide in response to LPS stimulation or Mycobacterium bovis infection

hematopoietic system

abnormal macrophage physiology ( J:143229 )

• very little urea is produced by peritoneal macrophages in response to IL-4 and IL-10 incubation due to a lack of arginase activity

increased macrophage nitric oxide production ( J:143229 )

• macrophages produce more nitrous oxide in response to LPS stimulation or Mycobacterium bovis infection

Genotype
MGI:3837692

cn4

• Allelic Composition: Ccm2^tm1Etl/Ccm2^tm1Etl; Tg(Tek-cre)1Ywa/0
• Genetic Background: B6.Cg-Tg(Tek-cre)1Ywa Ccm2^tm1Etl

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:146210 )

• embryonic lethality occurs between E10.5 and E11.5

embryo

abnormal placental labyrinth vasculature morphology ( J:146210 )

• E10.5 embryonic blood vessels do not invade the labyrinthine layer to the same extent as seen in control placentas

absent vitelline blood vessels ( J:146210 )

• yolk sac vessels of E10.5 embryos remain in a honeycomb pattern instead of developing into the large vitelline vessels

embryonic growth arrest ( J:146210 )

• 58% of E10.5 embryos have marked general delay of development

• 19% of E10.5 embryos have little to no signs of developmental delays

• 23% of E10.5 embryos have general growth arrest, a failure to complete turning and/or signs of resorption

abnormal somite development ( J:146210 )

• somite vasculature is poorly defined in E10.5 embyros

pale placenta ( J:146210 )

• E10.5 placenta has few nucleated red blood cells

pale yolk sac ( J:146210 )

• E9.5 homozygous embryos can be distinguished from other genotypes by their pale, wrinkled yolk sacs

disorganized extraembryonic tissue ( J:146210 )

• at E10.5, the different layers of the placenta are difficult to define and appear poorly organized

cardiovascular system

abnormal dorsal aorta morphology ( J:146210 )

• at E9.5, the dorsal aorta is irregular in appearance and thinner than controls

• at E10.5, the dorsal aorta is highly irregular in appearance and has narrow lumens

• in most embryos the dorsal aorta fails to fuse and instead remain present as two stenotic DA

• mural cells are hardly detectable in the dorsal aorta of E10.5 embryos

abnormal brain vasculature morphology ( J:146210 )

• in the head of E10.5 embryos, the cephalic plexus vasculature fails to remodel into a hierarchical branched network

• a coarse vascular network with poorly organized vessels makes it difficult to distinguish the internal carotid artery or primary head veins

abnormal placental labyrinth vasculature morphology ( J:146210 )

• E10.5 embryonic blood vessels do not invade the labyrinthine layer to the same extent as seen in control placentas

abnormal cardinal vein morphology ( J:146210 )

• cardinal veins of E10.5 embryos are dilated

absent vitelline blood vessels ( J:146210 )

• yolk sac vessels of E10.5 embryos remain in a honeycomb pattern instead of developing into the large vitelline vessels

abnormal atrioventricular cushion morphology ( J:146210 )

• there is a paucity of cells in the cushions in the atrioventricular canal of E10.5 embryos

abnormal sinus venosus morphology ( J:146210 )

• sinus venosus of E10.5 embryos are dilated

increased heart atrium size ( J:146210 )

• E10.5 embryos have enlarged atria to the degree that the more severe cases have distortion of the embryo

enlarged heart ( J:146210 )

• in E10.5 embryos that do not have severe growth arrest, the heart is 17% bigger than controls

thin ventricular wall ( J:146210 )

• ventricular trabeculations are strongly reduced in E10.5 embryos with, in some extreme cases, detachment of the endocardial cells from the myocardium

pericardial edema ( J:146210 )

• most E10.5 embryos suffer from pericardial edema to varying degrees

• half of E10.5 embryos have hemorrhaging in the pericardial cavity and in the trunk

homeostasis/metabolism

pericardial edema ( J:146210 )

• most E10.5 embryos suffer from pericardial edema to varying degrees

• half of E10.5 embryos have hemorrhaging in the pericardial cavity and in the trunk

nervous system

abnormal brain vasculature morphology ( J:146210 )

• in the head of E10.5 embryos, the cephalic plexus vasculature fails to remodel into a hierarchical branched network

• a coarse vascular network with poorly organized vessels makes it difficult to distinguish the internal carotid artery or primary head veins

abnormal choroid plexus morphology ( J:146210 )

• in the head of E10.5 embryos, the cephalic plexus vasculature fails to remodel into a hierarchical branched network

growth/size/body

enlarged heart ( J:146210 )

• in E10.5 embryos that do not have severe growth arrest, the heart is 17% bigger than controls

Genotype
MGI:3838507

cn5

• Allelic Composition: Fcgrt^tm1Esw/Fcgrt^tm1Esw; Tg(Tek-cre)1Ywa/0
• Genetic Background: B6.Cg-Tg(Tek-cre)1Ywa Fcgrt^tm1Esw

immune system

abnormal humoral immune response ( J:146640 )

• half-life of IgG1 antibodies (measured by clearance of injected human IgG1) is much shorter than controls with a mean half-life of 8.2 hours compared to 169.8 hours for controls

decreased IgG1 level ( J:146640 )

• serum levels of IgG1 are 4-fold less than controls

homeostasis/metabolism

decreased circulating serum albumin level ( J:146640 )

• albumin levels are about half that of controls

hematopoietic system

decreased IgG1 level ( J:146640 )

• serum levels of IgG1 are 4-fold less than controls

Genotype
MGI:5568546

cn6

• Allelic Composition: Igf1r^tm2Arge/Igf1r⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: B6.Cg-Tg(Tek-cre)1Ywa Igf1r^tm2Arge

cardiovascular system

abnormal vascular endothelial cell physiology ( J:208523 )

♂ • blunted endothelial regeneration after arterial injury compared with wild-type cells

abnormal vascular wound healing ( J:208523 )

♂ • blunted endothelial regeneration after arterial injury compared with wild-type cells

homeostasis/metabolism

abnormal vascular wound healing ( J:208523 )

♂ • blunted endothelial regeneration after arterial injury compared with wild-type cells

Genotype
MGI:4818938

cn7

• Allelic Composition: Itga5^tm2Hyn/Itga5^tm2Hyn; Tg(Tek-cre)1Ywa/0
• Genetic Background: B6.Cg-Tg(Tek-cre)1Ywa Itga5^tm2Hyn

mortality/aging

postnatal lethality, incomplete penetrance ( J:161850 )

• 50% die before weaning

cardiovascular system

patent ductus arteriosus ( J:161850 )

• in 90% of 10- to 20-week-old mice

cellular

patent ductus arteriosus ( J:161850 )

• in 90% of 10- to 20-week-old mice

Genotype
MGI:3512126

cn8

• Allelic Composition: Nrp1^tm2Ddg/Nrp1^tm2Ddg; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

perinatal lethality, complete penetrance ( J:93799 )

• 25/25 mutant mice died perinatally

cardiovascular system

abnormal cardiovascular system morphology ( J:93799 )

• exhibit multiple cardiac defects

persistent truncus arteriosus ( J:93799 )

abnormal coronary vessel morphology ( J:93799 )

• misplacement of coronary arteries

ventricular septal defect ( J:93799 )

Genotype
MGI:3512130

cn9

• Allelic Composition: Nrp1^tm2Ddg/Nrp1^tm2.1Ddg; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

prenatal lethality, complete penetrance ( J:93799 )

• mid-to-late embryonic lethality

cardiovascular system

abnormal blood vessel morphology ( J:93799 )

• systemic vascular deficiencies at E12.5 such as distended vessels in the abdominal wall

• brain vessels were large and underdeveloped

failure of vascular branching ( J:93799 )

• lack of medium and small-diameter branched vessels in the abdominal wall and brain vessels were not branched

persistent truncus arteriosus ( J:93799 )

dilated heart atrium ( J:93799 )

• exhibited bilateral atrial enlargement

Genotype
MGI:4818936

cn10

• Allelic Composition: Itga5^tm1Hyn/Itga5^tm2Hyn; Tg(H2-K1-tsA58)6Kio/0; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/10 * CBA/Ca * SJL

cellular

abnormal cell adhesion ( J:161850 )

• endothelial cells showed reduced adhesion to fibronectin

Genotype
MGI:5585446

cn11

• Allelic Composition: Cd40lg^tm1Parl/Cd40lg^tm1Parl; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

hematopoietic system

hematopoietic system phenotype ( J:213459 )

♀N • mice exhibit normal hemograms and response to thromogenesis

decreased IgA level ( J:213459 )

♀

decreased IgG1 level ( J:213459 )

♀

decreased IgG2a level ( J:213459 )

♀

decreased IgG3 level ( J:213459 )

♀

decreased IgM level ( J:213459 )

♀

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:213459 )

♀N • mice exhibit normal prothrombin tine and activated partial thromboplastin time

immune system

decreased IgA level ( J:213459 )

♀

decreased IgG1 level ( J:213459 )

♀

decreased IgG2a level ( J:213459 )

♀

decreased IgG3 level ( J:213459 )

♀

decreased IgM level ( J:213459 )

♀

Genotype
MGI:5585444

cn12

• Allelic Composition: Cd40lg^tm1Parl/Y; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * CD-1 * SJL

hematopoietic system

hematopoietic system phenotype ( J:213459 )

♂N • mice exhibit normal hemograms and response to thromogenesis

decreased IgA level ( J:213459 )

♂

decreased IgG1 level ( J:213459 )

♂

decreased IgG2a level ( J:213459 )

♂

decreased IgG3 level ( J:213459 )

♂

decreased IgM level ( J:213459 )

♂

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:213459 )

♂N • mice exhibit normal prothrombin tine and activated partial thromboplastin time

immune system

decreased IgA level ( J:213459 )

♂

decreased IgG1 level ( J:213459 )

♂

decreased IgG2a level ( J:213459 )

♂

decreased IgG3 level ( J:213459 )

♂

decreased IgM level ( J:213459 )

♂

Genotype
MGI:7278774

cn13

• Allelic Composition: Acvr1^tm1Glh/Acvr1^tm1Vk; Gt(ROSA)26Sor^{tm1.2(CAG-EGFP)Glh}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

homeostasis/metabolism

abnormal response to injury ( J:257905 )

• pinch injury of adult gastrocnemius muscle results in a 50-fold increase in heterotopic ossification volume compared to mice that have one wild-type allele of Acvr1

skeleton

increased bone ossification ( J:257905 )

• pinch injury of adult gastrocnemius muscle results in a 50-fold increase in heterotopic ossification volume compared to mice that have one wild-type allele of Acvr1

Genotype
MGI:5439509

cn14

• Allelic Composition: Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn; Heg1^tm1Mlkn/Heg1^tm2.1Mlkn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:187714 )

• around E11

cardiovascular system

thin myocardium ( J:187714 )

muscle

thin myocardium ( J:187714 )

Genotype
MGI:7550407

cn15

• Allelic Composition: Sox7^tm1.1Nat/Sox7^tm1.1Nat; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

embryo

embryonic growth retardation ( J:306193 )

• at E10.5, embryos show evidence of delayed development

abnormal vitelline vascular remodeling ( J:306193 )

• at E10.5, embryos show failure of yolk sac vascular remodeling

growth/size/body

embryonic growth retardation ( J:306193 )

• at E10.5, embryos show evidence of delayed development

Genotype
MGI:3710249

cn16

• Allelic Composition: Notch1^tm1Agt/Notch1^tm1Agt; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:100449 )

• die at around E10.5

growth/size/body

embryonic growth retardation ( J:100449 )

• embryos show a pronounced delay in posterior development, with some showing incomplete embryonic turning

embryo

abnormal placental labyrinth vasculature morphology ( J:100449 )

• blood vessels fail to invade the placental labyrinth

incomplete embryo turning ( J:100449 )

• seen in some embryos

embryonic growth arrest ( J:100449 )

• at E9.5, embryos display growth arrest at the 16-to 20-somite stage

embryonic growth retardation ( J:100449 )

• embryos show a pronounced delay in posterior development, with some showing incomplete embryonic turning

neural tube degeneration ( J:100449 )

• the forebrain neural tube is degenerated, with abundant pyknotic and fragmented nuclei

abnormal somite development ( J:100449 )

• somites are poorly defined, with signs of apoptosis

abnormal vitelline vascular remodeling ( J:100449 )

• embryos fail to remodel the primary vascular plexus to form large and small blood vessels of the mature yolk sac

cardiovascular system

abnormal intersomitic vessel morphology ( J:100449 )

• intersomitic blood vessels are poorly defined, with signs of apoptosis

abnormal placental labyrinth vasculature morphology ( J:100449 )

• blood vessels fail to invade the placental labyrinth

abnormal angiogenesis ( J:100449 )

• exhibit a marked reduction in vessel organization and a persistent, immature vascular plexus, suggesting a block in vascular maturation and angiogenic remodeling

• intact vasculogenesis but impaired secondary angiogenic sprouting and remodeling

abnormal vascular branching morphogenesis ( J:100449 )

• embryos show a decreased number of branching blood vessels throughout the embryo

abnormal anterior cardinal vein morphology ( J:100449 )

• the anterior cardinal vein appears hypoplastic

thin myocardium ( J:100449 )

delayed heart looping ( J:100449 )

• the heart displays delayed looping beginning at E9.5

pericardial effusion ( J:100449 )

• pericardial effusion is seen at E9.5 but not earlier

hemorrhage ( J:100449 )

• starting at E9.5, there is intraembryonic hemorrhage into the pericardium and tails

hemopericardium ( J:100449 )

• starting at E9.5, there is intraembryonic hemorrhage into the pericardium

cellular

increased apoptosis ( J:100449 )

• widespread apoptosis in neural cells and the inner endothelial lining of the aorta

nervous system

neural tube degeneration ( J:100449 )

• the forebrain neural tube is degenerated, with abundant pyknotic and fragmented nuclei

homeostasis/metabolism

pericardial effusion ( J:100449 )

• pericardial effusion is seen at E9.5 but not earlier

hemopericardium ( J:100449 )

• starting at E9.5, there is intraembryonic hemorrhage into the pericardium

muscle

thin myocardium ( J:100449 )

Genotype
MGI:4818935

cn17

• Allelic Composition: Itga5^tm1Hyn/Itga5^tm2Hyn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:161850 )

Genotype
MGI:4818939

cn18

• Allelic Composition: Gt(ROSA)26Sor^tm1Sho/0; Itga5^tm2Hyn/Itga5^tm1Hyn; Itgav^tm2Hyn/Itgav⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:161850 )

• at P21 fewer mice are alive than wild type

cardiovascular system

patent ductus arteriosus ( J:161850 )

• in several of the mice

ventricular septal defect ( J:161850 )

• ventricular septation defects

cellular

patent ductus arteriosus ( J:161850 )

• in several of the mice

Genotype
MGI:4818940

cn19

• Allelic Composition: Gt(ROSA)26Sor^tm1Sho/0; Itga5^tm2Hyn/Itga5^tm1Hyn; Itgav^tm1Hyn/Itgav^tm2Hyn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:161850 )

• die at E14.5 of severe dorsal edema and sometimes hemorrhage

cardiovascular system

retroesophageal right subclavian artery ( J:161850 )

vascular ring ( J:161850 )

• aorta vascular ring

abnormal ascending aorta morphology ( J:161850 )

• absent ascending aorta

patent ductus arteriosus ( J:161850 )

• in one of two surviving mice

ventricular septal defect ( J:161850 )

• ventricular septation defects

cellular

patent ductus arteriosus ( J:161850 )

• in one of two surviving mice

Genotype
MGI:5582835

cn20

• Allelic Composition: F8^tm1.1Rmnt/F8^tm1.1Rmnt; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

homeostasis/metabolism

decreased circulating factor VIII level ( J:212401 )

Genotype
MGI:5296321

cn21

• Allelic Composition: Gata5^tm1.1Nemr/Gata5^tm1.1Nemr; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

Bicuspid aortic valve in Gata5^tm1.2Nemr/Gata5^tm1.2Nemr Tg(Tek-cre)1Ywa/0 mice

cardiovascular system

abnormal aortic valve cusp morphology ( J:175663 )

• mice exhibit the fusion of the right-coronary and noncoronary valve leaflets unlike in control mice

bicuspid aortic valve ( J:175663 )

• in 3 of 14 mice compared with 1 of 31 control mice

Genotype
MGI:5427937

cn22

• Allelic Composition: Gata4^tm1Grg/Gata4^tm1.1Wtp; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

Hypocellular endocardial cushions in Gata4^tm1.1Wtp/Gata4^tm1Grg Tg(Tek-cre)1Ywa/0 mice

cardiovascular system

abnormal atrioventricular cushion morphology ( J:185124 )

• hypocellular endocardial cushions are noted at E10.5

• however, no myocardial thinning is seen

growth/size/body

growth/size/body region phenotype ( J:185124 )

N • viable with no signs of embryonic growth retardation

Genotype
MGI:5439515

cn23

• Allelic Composition: Ccm2l^tm1Mlkn/Ccm2l^tm1Mlkn; Ccm2^tm1Mlkn/Ccm2⁺; Heg1^tm1Mlkn/Heg1^tm2.1Mlkn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

prenatal lethality, incomplete penetrance ( J:187714 )

• some survivors are detected

Genotype
MGI:7562249

cn24

• Allelic Composition: Jun^tm1Pa/Jun^tm4Wag; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL

embryo

embryo phenotype ( J:199412 )

N • at E10.5, embryos show a similar pattern of Tfap2a expression in the developing cardiac outflow tract (OFT) and pharyngeal arches relative to controls, suggesting normal cardiac neural crest cell migration

Genotype
MGI:4849465

cn25

• Allelic Composition: Gt(ROSA)26Sor^{tm1(PDGFB)Cbet}/Gt(ROSA)26Sor⁺; Pdgfb^tm1Cbet/Pdgfb^tm1Cbet; Tg(Fabp4-lacZ)4Mosh/0; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * FVB/N * SJL

cardiovascular system

abnormal blood vessel morphology ( J:166532 )

• mural cell (pericytes and vascular smooth muscle cells) densities are lower than in wild-type mice

Genotype
MGI:4849467

cn26

• Allelic Composition: Gt(ROSA)26Sor^{tm1(PDGFB)Cbet}/Gt(ROSA)26Sor^{tm1(PDGFB)Cbet}; Pdgfb^tm1Cbet/Pdgfb^tm1Cbet; Tg(Fabp4-lacZ)4Mosh/0; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * FVB/N * SJL

cardiovascular system

cardiovascular system phenotype ( J:166532 )

N • mural cell (pericytes and vascular smooth muscle cells) densities are close to normal

Genotype
MGI:4849466

cn27

• Allelic Composition: Gt(ROSA)26Sor^{tm1(PDGFB)Cbet}/Gt(ROSA)26Sor^{tm1(PDGFB)Cbet}; Pdgfb^tm1Cbet/Pdgfb^tm1Cbet; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL

nervous system

impaired blood-brain barrier function ( J:166532 )

• mice exhibit increased blood-brain barrier (BBB) permeability compared with wild-type mice

• however, imatinib-treatment reverses increased BBB permeability

abnormal astrocyte morphology ( J:166532 )

• astrocyte end-feet are mis-localized compared to in wild-type mice

cardiovascular system

abnormal capillary morphology ( J:166532 )

• capillary diameter is increased compared to in wild-type mice

decreased capillary density ( J:166532 )

• capillary density is reduced compared to in wild-type mice

abnormal pericyte morphology ( J:166532 )

• pericyte coverage is less than in wild-type mice but not as severely as in Pdgfb^tm3.1Cbet homozygotes

impaired blood-brain barrier function ( J:166532 )

• mice exhibit increased blood-brain barrier (BBB) permeability compared with wild-type mice

• however, imatinib-treatment reverses increased BBB permeability

Genotype
MGI:4849464

cn28

• Allelic Composition: Gt(ROSA)26Sor^{tm1(PDGFB)Cbet}/Gt(ROSA)26Sor⁺; Pdgfb^tm1Cbet/Pdgfb^tm1Cbet; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL

nervous system

impaired blood-brain barrier function ( J:166532 )

• mice exhibit increased blood-brain barrier (BBB) permeability compared with wild-type mice

• however, imatinib-treatment reverses increased BBB permeability without improving blood vessel morphology

abnormal astrocyte morphology ( J:166532 )

• astrocyte end-feet are mis-localized compared to in wild-type mice

cardiovascular system

abnormal capillary morphology ( J:166532 )

• capillary diameter is increased compared to in wild-type mice

decreased capillary density ( J:166532 )

• capillary density is reduced compared to in wild-type mice

abnormal pericyte morphology ( J:166532 )

• pericyte coverage is less than in wild-type mice but not as severely as in Pdgfb^tm3.1Cbet homozygotes

impaired blood-brain barrier function ( J:166532 )

• mice exhibit increased blood-brain barrier (BBB) permeability compared with wild-type mice

• however, imatinib-treatment reverses increased BBB permeability without improving blood vessel morphology

Genotype
MGI:5428758

cn29

• Allelic Composition: Arap3^tm1.1Sve/Arap3^tm1.2Sve; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:185401 )

• die around E11

• identical to mice homozygous for Arap3^tm1.2Sve

cardiovascular system

abnormal brain vasculature morphology ( J:185401 )

• the capillary network is replaced with a large accumulation of endothelial cells

abnormal placenta vasculature ( J:185401 )

• identical to mice homozygous for Arap3^tm1.2Sve

abnormal developmental vascular remodeling ( J:185401 )

• defect in vascular maturation and remodeling, especially apparent in the midbrain

abnormal vitelline vasculature morphology ( J:185401 )

• unevenly sized vessel lumens, some of which are large, giving an impression of accumulations of endothelial cells

embryo

abnormal placenta vasculature ( J:185401 )

• identical to mice homozygous for Arap3^tm1.2Sve

abnormal vitelline vasculature morphology ( J:185401 )

• unevenly sized vessel lumens, some of which are large, giving an impression of accumulations of endothelial cells

embryonic growth arrest ( J:185401 )

decreased embryo size ( J:185401 )

• at E10.5

abnormal placenta labyrinth morphology ( J:185401 )

• defect in labyrinth formation

decreased placental labyrinth size ( J:185401 )

• identical to mice homozygous for Arap3^tm1.2Sve

excessive folding of visceral yolk sac ( J:185401 )

• wrinkled yolk sac at E10.5

pale yolk sac ( J:185401 )

abnormal vitelline vascular remodeling ( J:185401 )

• the primary vascular plexus fails to remodel

growth/size/body

decreased embryo size ( J:185401 )

• at E10.5

integument

pallor ( J:185401 )

• at E10.5

nervous system

abnormal brain vasculature morphology ( J:185401 )

• the capillary network is replaced with a large accumulation of endothelial cells

Genotype
MGI:3804904

cn30

• Allelic Composition: Ednrb^tm1Yko/Ednrb^tm1Yko; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * Bkl:BKW * C57BL/6 * SJL

cardiovascular system

cardiovascular system phenotype ( J:135711 )

N • mutants do not develop cardiac hypertrophy on a regular diet or salt-sensitive hypertension

decreased vasodilation ( J:135711 )

• vasodilator response to S6c, a selective Ednrb agonist, is attenuated in mutant aortic rings compared to controls

• acetylcholine-induced vasodilation is impaired

• however, S6c-induced tracheal smooth muscle cell contraction is unaltered

homeostasis/metabolism

abnormal blood homeostasis ( J:135711 )

• plasma endothelin-1 concentration is increased

abnormal nitric oxide homeostasis ( J:135711 )

• decrease in endogenous release of NO

muscle

decreased vasodilation ( J:135711 )

• vasodilator response to S6c, a selective Ednrb agonist, is attenuated in mutant aortic rings compared to controls

• acetylcholine-induced vasodilation is impaired

• however, S6c-induced tracheal smooth muscle cell contraction is unaltered

Genotype
MGI:5432163

cn31

• Allelic Composition: Nrp1^tm1Hfu/Nrp1^tm2Ddg; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

nervous system

abnormal brain vasculature morphology ( J:175836 )

• fewer and larger

decreased neuron number ( J:175836 )

• reduced gonadotropin-releasing hormone neurons

cardiovascular system

abnormal brain vasculature morphology ( J:175836 )

• fewer and larger

Genotype
MGI:6195748

cn32

• Allelic Composition: Gt(ROSA)26Sor^{tm18(Zeb2)Jhai}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0; Trp53^tm1Brn/Trp53^tm1Brn
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL

neoplasm

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop tumors after 15.5 weeks of age, with a complete shift towards hematopoietic neoplastic lesions (100%), mainly precursor T-cell lymphoma (85.7%)

• T-cell antigen receptor rearrangement analysis suggests either mono- or oligoclonal origin for all the thymic tumors

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop tumors after 15.5 weeks of age, with a complete shift towards hematopoietic neoplastic lesions (100%), mainly precursor T-cell lymphoma (85.7%)

• T-cell antigen receptor rearrangement analysis suggests either mono- or oligoclonal origin for all the thymic tumors

hematopoietic system

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop tumors after 15.5 weeks of age, with a complete shift towards hematopoietic neoplastic lesions (100%), mainly precursor T-cell lymphoma (85.7%)

• T-cell antigen receptor rearrangement analysis suggests either mono- or oligoclonal origin for all the thymic tumors

immune system

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop tumors after 15.5 weeks of age, with a complete shift towards hematopoietic neoplastic lesions (100%), mainly precursor T-cell lymphoma (85.7%)

• T-cell antigen receptor rearrangement analysis suggests either mono- or oligoclonal origin for all the thymic tumors

Genotype
MGI:3710362

cn33

• Allelic Composition: Smad5^tm1Huy/Smad5^tm1.1Huy; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL

cardiovascular system

cardiovascular system phenotype ( J:121072 )

N • mutants exhibit normal blood vessel development and blood vessel morphology in adults

Genotype
MGI:6195749

cn34

• Allelic Composition: Tg(Tek-cre)1Ywa/0; Trp53^tm1Brn/Trp53^tm1Brn
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop neoplastic lesions from both vascular (40.5%) and hematopoietic origins (54.8%), mainly T-cell lymphomas, at an average age of 25.5 weeks

neoplasm

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop neoplastic lesions from both vascular (40.5%) and hematopoietic origins (54.8%), mainly T-cell lymphomas, at an average age of 25.5 weeks

immune system

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop neoplastic lesions from both vascular (40.5%) and hematopoietic origins (54.8%), mainly T-cell lymphomas, at an average age of 25.5 weeks

hematopoietic system

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop neoplastic lesions from both vascular (40.5%) and hematopoietic origins (54.8%), mainly T-cell lymphomas, at an average age of 25.5 weeks

Genotype
MGI:6195747

cn35

• Allelic Composition: Gt(ROSA)26Sor^{tm18(Zeb2)Jhai}/Gt(ROSA)26Sor^{tm18(Zeb2)Jhai}; Tg(Tek-cre)1Ywa/0; Trp53^tm1Brn/Trp53^tm1Brn
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1 * SJL

neoplasm

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop tumors after 12.7 weeks of age, with a complete shift towards hematopoietic neoplastic lesions (100%), mainly precursor T-cell lymphoma (87.5%)

• cell antigen receptor rearrangement analysis suggests either mono- or oligoclonal origin for all the thymic tumors

increased leukemia incidence ( J:263520 )

• thymomas have an immature/early T-cell precursor leukemia signature

• 12.5% of tumors are myeloid leukemia

increased thymoma incidence ( J:263520 )

• thymomas have an immature/early T-cell precursor leukemia signature

• thymic tumors lack mature T-cell markers such as surface CD3 and CD8 and exhibit a higher percentage of cells that express the stem/progenitor marker cKit or CD44

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop tumors after 12.7 weeks of age, with a complete shift towards hematopoietic neoplastic lesions (100%), mainly precursor T-cell lymphoma (87.5%)

• cell antigen receptor rearrangement analysis suggests either mono- or oligoclonal origin for all the thymic tumors

immune system

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop tumors after 12.7 weeks of age, with a complete shift towards hematopoietic neoplastic lesions (100%), mainly precursor T-cell lymphoma (87.5%)

• cell antigen receptor rearrangement analysis suggests either mono- or oligoclonal origin for all the thymic tumors

hematopoietic system

increased T cell derived lymphoma incidence ( J:263520 )

• mice develop tumors after 12.7 weeks of age, with a complete shift towards hematopoietic neoplastic lesions (100%), mainly precursor T-cell lymphoma (87.5%)

• cell antigen receptor rearrangement analysis suggests either mono- or oligoclonal origin for all the thymic tumors

Genotype
MGI:5468943

cn36

• Allelic Composition: Cxcl12^tm1Tng/Cxcl12^tm1.1Link; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N * SJL

hematopoietic system

hematopoietic system phenotype ( J:193594 )

N • hematopoietic stem cell numbers and cycling are normal

abnormal bone marrow cell physiology ( J:193594 )

• bone marrow cells exhibit multilineage long-term repopulating defects

• however, self-renewal capacity is restored by transplantation into a wild-type environment

Genotype
MGI:7562246

cn37

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

mortality/aging

mortality/aging ( J:199412 )

N • mice are present at the expected Mendelian ratios at E15.5-P0, indicating normal embryonic survival until late gestation or even until birth

cardiovascular system

cardiovascular system phenotype ( J:199412 )

N • at E15.5-P0, none of 10 mice examined exhibit any aortic arch artery remodeling defects

thin right ventricle myocardium compact layer ( J:199412 )

• at E15.5, three of 7 (43%) embryos show thinning of the compact myocardium of the right ventricle

• however, no compact zone thinning is noted in the left ventricle

double outlet right ventricle ( J:199412 )

• at E15.5-P0, one of 7 (14%) embryos exhibits a double outlet right ventricle (DORV)

thick mitral valve cusps ( J:199412 )

• at E15.5, mitral valve leaflets are thickened and hyperplastic in one embryo

mitral valve hyperplasia ( J:199412 )

• at E15.5-P0, one of 7 (14%) embryos shows mitral valve hyperplasia

perimembraneous ventricular septal defect ( J:199412 )

• at E15.5-P0, three of 7 (43%) embryos show a perimembranous VSD

thick pulmonary valve cusps ( J:199412 )

• at P0, pulmonary valve leaflets are thickened and hyperplastic in one embryo

pulmonary valve hyperplasia ( J:199412 )

• at E15.5-P0, one of 7 (14%) embryos shows pulmonary valve hyperplasia

muscle

thin right ventricle myocardium compact layer ( J:199412 )

• at E15.5, three of 7 (43%) embryos show thinning of the compact myocardium of the right ventricle

• however, no compact zone thinning is noted in the left ventricle

Genotype
MGI:3796333

cn38

• Allelic Composition: Pik3cb^tm1Bvan/Pik3cb^tm1Bvan; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

cardiovascular system

cardiovascular system phenotype ( J:136236 )

N • vascular development is normal

Genotype
MGI:6361029

cn39

• Allelic Composition: Nus1^tm1.1Qrm/Nus1^tm1.1Qrm; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:229464 )

• embryonic lethality at E10.5-E11.5

growth/size/body

decreased embryo size ( J:229464 )

embryo

abnormal vitelline vasculature morphology ( J:229464 )

• E10, but not E9, yolk sac shows aberrant blood vessel development

decreased embryo size ( J:229464 )

cardiovascular system

abnormal brain vasculature morphology ( J:229464 )

• cerebral blood vessels are truncated and exhibit disrupted organization instead of having a well-organized tree-like pattern

• cerebral blood vessels are highly dilated, being normal at E8.5 but becoming dilated by E9.5

abnormal vascular development ( J:229464 )

• cerebral blood vessels are truncated and exhibit disrupted organization instead of having a well-organized tree-like pattern

• the communicating artery is lost and disruption of major artery patterning is seen

• E10, but not E9, yolk sac shows aberrant blood vessel development

• however, no defect in cardiac development is seen and no obvious bronchial arch artery defects are seen

abnormal vitelline vasculature morphology ( J:229464 )

• E10, but not E9, yolk sac shows aberrant blood vessel development

nervous system

abnormal brain vasculature morphology ( J:229464 )

• cerebral blood vessels are truncated and exhibit disrupted organization instead of having a well-organized tree-like pattern

• cerebral blood vessels are highly dilated, being normal at E8.5 but becoming dilated by E9.5

Genotype
MGI:5306154

cn40

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

cardiovascular system

cardiovascular system phenotype ( J:94376 )

N • mice exhibit normal cerebral vasculature

Genotype
MGI:3796332

cn41

• Allelic Composition: Pik3ca^tm3Bvan/Pik3ca^tm3Bvan; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:136236 )

• mice die by E12.5

embryo

abnormal vitelline vascular remodeling ( J:136236 )

• by E10.5, mice exhibit a defective remodeling of the primary yolk sac plexus

cardiovascular system

abnormal vascular development ( J:136236 )

• at E10.5, mice develop vascular abnormalities similar to those observed in Pik3ca^tm1Bvan homozygotes

Genotype
MGI:6852794

cn42

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

reproductive system

abnormal pregnancy ( J:307517 )

♀ • endometrial endothelial cells are unable to support a normal decidualization reaction resulting in pregnancy loss between 5.5 days post conception (dpc) and 6.5 dpc

♀ • genes associated with embryonic and trophoblast lineage development and decidualization are downregulated, consistent with the observed pregnancy loss

♀ • however, corpora lutea (CL) histology and the distribution pattern of endothelial cells in the CL are normal at 5.5 dpc

abnormal decidualization ( J:307517 )

♀ • at 5.5 dpc, the decidualization reaction is less widely distributed throughout the stroma and less organized than in controls; however, the ability of endometrial stromal cells to differentiate into decidual cells is normal

♀ • after induction of artificial decidualization, the weights of scratched uterine horns are significantly lower than those of controls, indicating that decidualization is impaired independently of embryonic signals

abnormal embryo implantation ( J:307517 )

♀ • at 5.5 dpc, implantation sites are round instead of oval and have a smaller diameter than control sites; the area of the proximal decidual zone is significantly reduced and a less developed embryonic body is observed

♀ • at 5.5 dpc, embryonic crypt formation is abnormal and large red blood cell-filled spaces are frequently seen close to the implantation sites, indicating aberrant blood vessel formation

♀ • at 5.5 dpc, the area of the endometrial fraction is significantly reduced, and implantation sites show a disorganized vasculature with an increase in endothelial cell coverage

♀ • however, no significant changes in tissue perfusion, hypoxia levels, cell proliferation in the endometrium, or distribution of immune cells are observed in the implantation site

abnormal embryo invasion ( J:307517 )

♀ • at 5.5 dpc, the implanting embryo remains localized in the anti-mesometrial side of the lumen rather than having invaded the maternal decidua as in controls

abnormal luminal closure ( J:307517 )

♀ • at 5.5 dpc, luminal closure is incomplete

impaired embryo implantation ( J:307517 )

♀ • at 5.5 dpc, all analyzed females are pregnant but show a ~20% reduction in the number of implantation sites relative to control females

♀ • most or all implantation sites are completely resorbed by 6.5 dpc

female infertility ( J:307517 )

♀ • when mated with control Adam10^tm2Psa homozygous males for a total of 4 months, 6 of 8 females fail to give birth

reduced female fertility ( J:307517 )

♀ • when mated with control males for a 4 month-period, 2 of 8 females produce a relatively small number of offspring (9 pups or 10 pups each, over the course of 3 litters); on average, females give birth to a total of 2.3 +/- 4.4 pups per mouse over 4 months versus 22.88 +/- 3.1 pups per control female

♀ • when mated with wild-type males (129S1/SvImj), 2 of 5 females produce a total of 8 pups in 2 litters, with an average of 1.6 +/- 2.6 pups per female over 4 months

decreased litter size ( J:307517 )

♀ • when females are mated with control males for a 4 month-period, average litter size 3.18 +/- 0.8 versus 9.96 +/- 2.2 in control x control matings

♀ • when females are mated with wild-type males (129S1/SvImj), average litter size is only 2.7 +/- 2.1

embryo

abnormal decidualization ( J:307517 )

♀ • at 5.5 dpc, the decidualization reaction is less widely distributed throughout the stroma and less organized than in controls; however, the ability of endometrial stromal cells to differentiate into decidual cells is normal

♀ • after induction of artificial decidualization, the weights of scratched uterine horns are significantly lower than those of controls, indicating that decidualization is impaired independently of embryonic signals

cardiovascular system

abnormal blood vessel morphology ( J:307517 )

♀ • females show a disorganized vasculature during the initiation of decidualization: at 5.5 dpc, vessels closer to the implantation sites are abnormally large, vein-like, and organized in honeycomb-like structures, unlike in controls

♀ • an accumulation of CD31 + cells surrounding the luminal epithelium and increased vascularization of the area proximal to the implantation site are observed, unlike in the control area where vascular density is reduced

♀ • increased endomucin (Emcn) and VEGFR2 staining of the enlarged abnormal vasculature surrounding the embryo in implantation sites is suggestive of a defect in endothelial ADAM10/Notch signaling

increased vascular endothelial cell number ( J:307517 )

♀ • females show a significant increase in the area covered by CD31 + endothelial cells in the endometrium at 5.5 dpc, but not at earlier time points (3.5 or 4.5 dpc) during pregnancy

Genotype
MGI:3710208

cn43

• Allelic Composition: Sox9^tm1Gsr/Sox9^tm1Gsr; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:121352 )

• die between E11.5 and E14.5

cardiovascular system

conotruncal ridge hypoplasia ( J:121352 )

• endocardial cushions within the outflow tract appear grossly reduced in size

abnormal fetal atrioventricular canal morphology ( J:121352 )

• in the atrioventricular canal, there is malalignment of the atrial septum, although the septum does meet the endocardial cushions in more distal areas

abnormal atrioventricular cushion morphology ( J:121352 )

• endocardial cushions are hypoplastic and fail to elongate and form atrioventricular valve primordia at E13.5

• at E12.5, cell proliferation within the endocardial cushion is reduced by 75%

abnormal heart valve development ( J:121352 )

• defects in valve maturation

abnormal atrioventricular valve development ( J:121352 )

• atrioventricular valve primordia do not form at E13.5

abnormal interatrial septum morphology ( J:121352 )

• incomplete formation of the atrial septum

pericardial edema ( J:121352 )

abnormal blood circulation ( J:121352 )

• mutants exhibit increased blood pooling

homeostasis/metabolism

pericardial edema ( J:121352 )

Genotype
MGI:3590664

cn44

• Allelic Composition: Gna13^tm1Soff/Gna13^tm2Cgh; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:99731 )

• at E9.5 36% of mutants are dead and by E11.5 88% are dead

cardiovascular system

abnormal vitelline vasculature morphology ( J:99731 )

• large vessels are missing and unusually large vascular spaces are present; however this phenotype is more obvious in Gna13^tm1Soff homozygous mice

enlarged pericardium ( J:99731 )

• pericardial swelling

hemorrhage ( J:99731 )

• variable bleeding into cavities and tissues is seen; however this phenotype is more obvious in Gna13^tm1Soff homozygous mice

embryo

abnormal vitelline vasculature morphology ( J:99731 )

• large vessels are missing and unusually large vascular spaces are present; however this phenotype is more obvious in Gna13^tm1Soff homozygous mice

embryonic growth retardation ( J:99731 )

excessive folding of visceral yolk sac ( J:99731 )

• the yolk sac is wrinkled

growth/size/body

embryonic growth retardation ( J:99731 )

integument

pallor ( J:99731 )

Genotype
MGI:4441398

cn45

• Allelic Composition: Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * SJL

immune system

decreased lymphatic vessel endothelial cell number ( J:158959 )

• at E10.0, number of Prox1+ve lymphatic endothelial cells is dramatically reduced

Genotype
MGI:4441397

cn46

• Allelic Composition: Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa; Rbpj^tm1Hon/Rbpj^tm1Hon; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

embryonic lethality, incomplete penetrance ( J:158959 )

• fewer embryos than expected are found at E10.0

immune system

decreased lymphatic vessel endothelial cell number ( J:158959 )

• at E10.0, number of Prox1+ve lymphatic endothelial cells is dramatically reduced

Genotype
MGI:4948329

cn47

• Allelic Composition: Fzd4^tm1Nat/Fzd4^tm2.1Nat; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

renal/urinary system

renal/urinary system phenotype ( J:170839 )

N • kidney size is normal

Genotype
MGI:5692156

cn48

• Allelic Composition: Agrn^tm1Rwb/Agrn^tm1Rwb; Tg(APPswe,PSEN1dE9)85Dbo/?; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * SJL

nervous system

amyloid beta deposits ( J:220073 )

♀ • elevated Amyloid beta in females mice

homeostasis/metabolism

amyloid beta deposits ( J:220073 )

♀ • elevated Amyloid beta in females mice

Genotype
MGI:7279301

cn49

• Allelic Composition: Gata4^tm1.1Sad/Gata4⁺; Glyr1^em1Dsr/Glyr1⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL

cardiovascular system

ventricular septal defect ( J:322763 )

• VSD in all newborns, majority with atrio-ventricular septal defects (AVSDs)

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:322763 )

• mice born at below Mendelian ratios

postnatal lethality, incomplete penetrance ( J:322763 )

• 63% newborns die by age P1

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrioventricular septal defect		DOID:0050651	OMIM:606215 OMIM:614430 OMIM:614474	J:322763

Genotype
MGI:6392049

cn50

• Allelic Composition: Cd2bp2^tm1.1Tbh/Cd2bp2^tm1.1Tbh; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:283435 )

• mice die around E11.5

Genotype
MGI:3589870

cn51

• Allelic Composition: Ndst1^tm1Je/Ndst1^tm1Je; Ndst2^tm1Lkj/Ndst2^tm1Lkj; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

prenatal lethality, complete penetrance ( J:100456 )

• no pups carrying the cre transgene are born

Genotype
MGI:5692155

cn52

• Allelic Composition: Agrn^tm1Rwb/Agrn^tm1Rwb; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

nervous system

nervous system phenotype ( J:220073 )

N • expression of the Agrn gene is restricted to endothelial cells

N • no obvious failure of integrity in the blood-brain barrier

cardiovascular system

abnormal blood vessel morphology ( J:220073 )

• decreased diameter of microvessels

Genotype
MGI:4418479

cn53

• Allelic Composition: Hif1a^tm3Rsjo/Hif1a^tm3Rsjo; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

cardiovascular system

decreased angiogenesis ( J:94773 )

• endothelial cells exhibit reduced VEGF-induced angiogenesis compared with similarly treated wild-type mice

• transplanted tumors exhibit a 50% in tumor vessel density compared with tumors transplanted into wild-type mice

• under hypoxic culture conditions, endothelial cells exhibit reduced VEGF-induced capillary structure formation compared with similarly treated wild-type cells

abnormal vascular endothelial cell migration ( J:94773 )

• endothelial cells exhibit reduced VEGF-induced migration in matrigel compared with similarly treated wild-type mice

• endothelial cells exhibit reduced VEGF-directed migration in hypoxic culture conditions compared with similarly treated wild-type cells

• however, random migration is normal

decreased vascular endothelial cell proliferation ( J:94773 )

• VEGF-induced endothelial cell proliferation in matrigel is reduced compared with wild-type mice

neoplasm

decreased tumor growth/size ( J:94773 )

• transplanted tumors are 60% lighter than those transplanted into wild-type mice with severe central necrosis due to decreased tumor angiogenesis

homeostasis/metabolism

delayed wound healing ( J:94773 )

• with reduced capillary sprouting

cellular

abnormal vascular endothelial cell migration ( J:94773 )

• endothelial cells exhibit reduced VEGF-induced migration in matrigel compared with similarly treated wild-type mice

• endothelial cells exhibit reduced VEGF-directed migration in hypoxic culture conditions compared with similarly treated wild-type cells

• however, random migration is normal

decreased vascular endothelial cell proliferation ( J:94773 )

• VEGF-induced endothelial cell proliferation in matrigel is reduced compared with wild-type mice

Genotype
MGI:5581949

cn54

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2Kem; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

prenatal lethality, incomplete penetrance ( J:178340 )

• fewer than expected mice are born

skeleton

decreased osteoclast cell number ( J:178340 )

increased bone volume ( J:178340 )

osteopetrosis ( J:178340 )

decreased bone resorption ( J:178340 )

hematopoietic system

decreased osteoclast cell number ( J:178340 )

immune system

decreased osteoclast cell number ( J:178340 )

Genotype
MGI:4412188

cn55

• Allelic Composition: Fzd4^tm1Nat/Fzd4^tm2.1Nat; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

vision/eye

impaired pupillary reflex ( J:154020 )

• rod and cone signals are not transmitted effectively

abnormal retina vasculature morphology ( J:154020 )

• vascular development on the vitreal face of the retina is retarded

• intra retinal capillaries are completely absent

• vessels from the vitreal surface penetrate the retina and end in ball-like structures

• large vessels are dilated and artery to vein anastomoses develop

• incomplete recombination in retinas creates mosaics in which capillaries form in some region

• vessels from conditionally knocked out regions can integrate into wild type capillary beds

abnormal eye electrophysiology ( J:154020 )

• electroretinogram a wave is relatively normal

• electroretinogram b wave is markedly reduced

behavior/neurological

abnormal optokinetic reflex ( J:154020 )

• rod and cone signals are not transmitted effectively

impaired pupillary reflex ( J:154020 )

• rod and cone signals are not transmitted effectively

nervous system

abnormal brain vasculature morphology ( J:154020 )

• leakage of IgG into the cerebellum

cardiovascular system

abnormal brain vasculature morphology ( J:154020 )

• leakage of IgG into the cerebellum

abnormal retina vasculature morphology ( J:154020 )

• vascular development on the vitreal face of the retina is retarded

• intra retinal capillaries are completely absent

• vessels from the vitreal surface penetrate the retina and end in ball-like structures

• large vessels are dilated and artery to vein anastomoses develop

• incomplete recombination in retinas creates mosaics in which capillaries form in some region

• vessels from conditionally knocked out regions can integrate into wild type capillary beds

Genotype
MGI:5581948

cn56

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

skeleton

increased osteoclast cell number ( J:178340 )

decreased trabecular bone volume ( J:178340 )

osteoporosis ( J:178340 )

increased bone resorption ( J:178340 )

hematopoietic system

increased osteoclast cell number ( J:178340 )

immune system

increased osteoclast cell number ( J:178340 )

Genotype
MGI:5570546

cn57

• Allelic Composition: Ptges^tm1.1Gaf/Ptges^tm1.1Gaf; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

homeostasis/metabolism

abnormal vascular wound healing ( J:210141 )

• following wire injury, mice exhibit accelerated intimal hyperplasia with increased intima to media ratio and stenosis percent compared with control mice

decreased prostaglandin level ( J:210141 )

• decreased IL1beta-stimulated prostaglandin E2

increased prostaglandin level ( J:210141 )

• increased IL1beta-stimulated prostaglandin D2 and I2 levels

cardiovascular system

cardiovascular system phenotype ( J:210141 )

N • whether fed standard chow or a high salt diet, mice exhibit normal modulation of blood pressure and thrombogenesis

abnormal vascular wound healing ( J:210141 )

• following wire injury, mice exhibit accelerated intimal hyperplasia with increased intima to media ratio and stenosis percent compared with control mice

Genotype
MGI:5562654

cn58

• Allelic Composition: Ndst1^tm1Je/Ndst1^tm1Je; Robo4^tm1Kzh/Robo4^tm1Kzh; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

cardiovascular system

abnormal vascular development ( J:208012 )

• diaphragm shows a large avascular region in the anterior tendon and reduced total vessel length and branch point numbers

muscle

abnormal diaphragm morphology ( J:208012 )

• diaphragm shows a large avascular region in the anterior tendon and reduced total vessel length and branch point numbers

diaphragmatic hernia ( J:208012 )

• 92% of mice develop congenital diaphragmatic hernia

Genotype
MGI:3589869

cn59

• Allelic Composition: Ndst1^tm1Je/Ndst1^tm1Je; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

immune system

abnormal leukocyte migration ( J:100456 )

• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type

• chemokine induced-immigration of neutrophils is reduced by about 50%

abnormal leukocyte adhesion ( J:100456 )

• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen

impaired leukocyte tethering or rolling ( J:100456 )

• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm² of shear force

decreased inflammatory response ( J:100456 )

• about 40% fewer neutrophils infiltrate the peritoneal cavity in response to intraperitoneal thioglycollate injection

• about 32% less ear thickening is seen in a model of contact dermatitis induced by oxazolone

cellular

abnormal leukocyte migration ( J:100456 )

• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type

• chemokine induced-immigration of neutrophils is reduced by about 50%

abnormal leukocyte adhesion ( J:100456 )

• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen

impaired leukocyte tethering or rolling ( J:100456 )

• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm² of shear force

decreased endothelial cell proliferation ( J:208012 )

• endothelial cell proliferation is reduced in central tendon

• however, mural cell recruitment is normal

hematopoietic system

abnormal leukocyte migration ( J:100456 )

• in an air-pouch model leukocyte infiltration is reduced to about half that of wild-type

• chemokine induced-immigration of neutrophils is reduced by about 50%

abnormal leukocyte adhesion ( J:100456 )

• a reduction of about 40% in firm adhesion of neutrophils to mutant endothelial cells is seen

impaired leukocyte tethering or rolling ( J:100456 )

• rolling velocity is about 40% greater on mutant endothelial cells at 1 dyne/cm² of shear force

cardiovascular system

abnormal vascular development ( J:208012 )

• vascularization defects in the developing diaphragm

• central tendon of the diaphragm at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete

• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5

• the primary plexus of blood vessels in diaphragmatic muscle shows fewer vascular floors, reduced vascular density, some slender and cord-like capillaries, and capillary density remains reduced at E18.5

• however capillary density appears normal in the brain, liver, kidney, heart, lung, spleen and thymus

decreased angiogenesis ( J:208012 )

• SLIT3-induced angiogenesis is greatly diminished in cornea micropocket experiments

embryo

abnormal septum transversum morphology ( J:208012 )

• adults show reduced branches of large vessels in the anterior muscular region of septum transversum

homeostasis/metabolism

hypoxia ( J:208012 )

• increase in hypoxia in diaphragm

liver/biliary system

herniated liver ( J:208012 )

• in most mice, liver is the only herniated organ although in a few cases, the small intestine is involved

muscle

abnormal diaphragm morphology ( J:208012 )

• diaphragm covering the liver is thinner at P1

• vascularization defects in the developing diaphragm

• the primary plexus of blood vessels in diaphragmatic muscle shows fewer vascular floors, reduced vascular density, some slender and cord-like capillaries, and capillary density remains reduced at E18.5

• increase in apoptosis in the diaphragm tendon

• cell proliferation of tenocytes in the diaphragm is reduced

abnormal diaphragm central tendon morphology ( J:208012 )

• the central tendon and liver remain fused at P1 unlike in wild-type where they are completely separated

• decrease in thickness and disorganized fibrils are seen in the primordial tendon at E15.5, indicating that genesis of the central tendon in the diaphragm is disrupted

• central tendon at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete

• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5

• mice show fewer tip endothelial cells (which guide angiogenic sprouting) in central tendon than in controls

• filopodia of tip cells are fewer in number and much shorter

diaphragmatic hernia ( J:208012 )

• 40% of mice develop congenital diaphragmatic hernia at P2, with penetrance increasing to 60% in adults

• hernia occurs at the anterior midline of the septum transversum in the diaphragm

• hernia size does not progress with age

thin diaphragm muscle ( J:208012 )

• muscular region of the diaphragm is thinner at E15.5

• however, fasciculi in the muscle are organized and sarcomeres appear normal

abnormal tendon cell morphology ( J:208012 )

• cell proliferation of tenocytes in the diaphragm is reduced

abnormal tendon collagen fibril morphology ( J:208012 )

• collagen bundle in the diaphragm is poorly expressed and disorganized, with fewer tenocytes

skeleton

abnormal diaphragm central tendon morphology ( J:208012 )

• the central tendon and liver remain fused at P1 unlike in wild-type where they are completely separated

• decrease in thickness and disorganized fibrils are seen in the primordial tendon at E15.5, indicating that genesis of the central tendon in the diaphragm is disrupted

• central tendon at E15.5 contains a larger avascular region than in controls and at E16.6, formation of the capillary bed in this region remains incomplete

• the central tendon shows reduced vessel density and many missing connections at E15.5 and E16.5

• mice show fewer tip endothelial cells (which guide angiogenic sprouting) in central tendon than in controls

• filopodia of tip cells are fewer in number and much shorter

abnormal tendon cell morphology ( J:208012 )

• cell proliferation of tenocytes in the diaphragm is reduced

abnormal tendon collagen fibril morphology ( J:208012 )

• collagen bundle in the diaphragm is poorly expressed and disorganized, with fewer tenocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:208012

Genotype
MGI:5562649

cn60

• Allelic Composition: Ndst1^tm1Je/Ndst1^tm1Je; Slit3^tm1.1Dor/Slit3^tm1.1Dor; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

muscle

diaphragmatic hernia ( J:208012 )

• 100% of mice develop central tendon congenital diaphragmatic hernia compared to 57% of conditional Ndst1 homozygotes and 86% of Slit3 homozygotes

Genotype
MGI:5496651

cn61

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Bmi1)Aiwa}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

hematopoietic system

hematopoietic system phenotype ( J:198331 )

N • mice exhibit normal steady state hematopoiesis and colony-forming capacity of hematopoietic stem and progenitor cells

increased hematopoietic stem cell number ( J:198331 )

• during serial transplantation

abnormal hematopoietic stem cell physiology ( J:198331 )

• hematopoietic stem cells exhibit enhanced expansion ex vivo and protection against loss of self-renewal capacity during serial transplantation compared with wild-type cells

• hematopoietic stem cells exhibit resistance to oxidative stress compared with wild-type cells

• however, no radioprotection is observed

increased hematopoietic stem cell proliferation ( J:198331 )

• during serial transplantation

cellular

increased hematopoietic stem cell proliferation ( J:198331 )

• during serial transplantation

Genotype
MGI:5562648

cn62

• Allelic Composition: Ndst1^tm1Je/Ndst1^tm1Je; Slit3^tm1.1Dor/Slit3⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

muscle

diaphragmatic hernia ( J:208012 )

• mice develop central tendon congenital diaphragmatic hernia with the same penetrance as seen in single Ndst1 conditional homozygotes

Genotype
MGI:3710234

cn63

• Allelic Composition: Nf1^tm1Par/Nf1^tm1Par; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

cardiovascular system

thin myocardium compact layer ( J:80323 )

thin myocardium ( J:80323 )

• 8 of 11 embryos exhibit a thinned myocardium

increased atrioventricular cushion size ( J:80323 )

• 8 of 11 embryos show an enlarged atrioventricular cushion

double outlet right ventricle ( J:80323 )

• seen in 8 of 11 embryos

ventricular septal defect ( J:80323 )

• 10 of 11 embryos exhibit ventricular septal defects

pericardial effusion ( J:80323 )

homeostasis/metabolism

pericardial effusion ( J:80323 )

muscle

thin myocardium compact layer ( J:80323 )

thin myocardium ( J:80323 )

• 8 of 11 embryos exhibit a thinned myocardium

Genotype
MGI:5562651

cn64

• Allelic Composition: Ndst1^tm1Je/Ndst1^tm1Je; Robo4^tm1Kzh/Robo4⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

cardiovascular system

abnormal vascular development ( J:208012 )

• mice show delayed diaphragm vascularization and have more severe branching defects, including missing connections, lack of sprouting, and formation of coiled ends compared to single conditional Ndst1 homozygotes

muscle

abnormal diaphragm morphology ( J:208012 )

• mice show delayed diaphragm vascularization and have more severe branching defects, including missing connections, lack of sprouting, and formation of coiled ends compared to single conditional Ndst1 homozygotes

diaphragmatic hernia ( J:208012 )

• 88% of mice develop congenital diaphragmatic hernia

Genotype
MGI:4829789

cn65

• Allelic Composition: Foxp1^tm2.1Eem/Foxp1^tm2.1Eem; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:163662 )

• die between E14.5 and E16.5

cardiovascular system

cardiovascular system phenotype ( J:163662 )

N • despite cre expression patterns, coronary vessel development is relatively unperturbed

abnormal cardiac outflow tract development ( J:163662 )

• thickened outflow tract at E14.5

• however, outflow tract septation is normal

increased atrioventricular cushion size ( J:163662 )

• thickened at E14.5

ventricular septal defect ( J:163662 )

• ventricular septal defect at E14.5

thin ventricular wall ( J:163662 )

• display minor ventricular thinning at E12.4

• by E14.5 most mice show extensive ventricular thinning

abnormal fetal cardiomyocyte proliferation ( J:163662 )

• significant reduction in proliferation in the compact zone myocardium and the trabecular myocardium at E12.5

muscle

abnormal fetal cardiomyocyte proliferation ( J:163662 )

• significant reduction in proliferation in the compact zone myocardium and the trabecular myocardium at E12.5

cellular

abnormal fetal cardiomyocyte proliferation ( J:163662 )

• significant reduction in proliferation in the compact zone myocardium and the trabecular myocardium at E12.5

Genotype
MGI:3759503

cn66

• Allelic Composition: Prox1^tm1Gco/Prox1^tm2Gco; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

immune system

absent lymphatic vessels ( J:125507 )

• no deep lymphatic vessels are observed

Genotype
MGI:3710231

cn67

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:85505 )

• 50% die by E11.5 and 100% die by E13.5

cardiovascular system

abnormal blood vessel morphology ( J:85505 )

• in the head, the vascular network is less organized, with vessels of irregular diameter and shape and often blind ending vessels and lacunae-like bifurcations are observed

• cephalic vessels show an inconstant diameter and often form acute turns and branching

abnormal vascular endothelial cell morphology ( J:85505 )

• endocardial and vascular endothelial cells are more elongated, resulting in a continuously thinner endothelial layer

• endothelial cells present a higher degree of fenestration; these structures are discontinuities in the cell membranes

• endothelial cells have altered intercellular junctional organization, with thinner and longer bundles of actin filaments

abnormal placental labyrinth vasculature morphology ( J:85505 )

• the labyrinthine layer is less vascularized, there is a reduction in the number of fetal blood vessels that penetrate into the labyrinthine area and they remain concentrated in the chorionic plate

abnormal vitelline vasculature morphology ( J:85505 )

• vitelline vessels have a smaller diameter

• however, the primary vascular plexus is present and correctly organized

abnormal endocardium morphology ( J:85505 )

• thin endocardium

small heart ( J:85505 )

pericardial edema ( J:85505 )

• frequently have extensive liquid accumulation in the pericardial cavity

hemorrhage ( J:85505 )

• about 50% of embryos have hemorrhages in different vascular areas such as the head and the dorsal vessels

embryo

abnormal vitelline vasculature morphology ( J:85505 )

• vitelline vessels have a smaller diameter

• however, the primary vascular plexus is present and correctly organized

abnormal placenta morphology ( J:85505 )

abnormal placental labyrinth vasculature morphology ( J:85505 )

• the labyrinthine layer is less vascularized, there is a reduction in the number of fetal blood vessels that penetrate into the labyrinthine area and they remain concentrated in the chorionic plate

thin placenta labyrinth ( J:85505 )

• reduced in thickness

abnormal umbilical cord blood vessel morphology ( J:85505 )

• umbilical vessels are often increased in number, have a smaller diameter and are abnormally branched or anastomosed

abnormal visceral yolk sac morphology ( J:85505 )

pale yolk sac ( J:85505 )

• seen at E10.5 but not E8.5

homeostasis/metabolism

pericardial edema ( J:85505 )

• frequently have extensive liquid accumulation in the pericardial cavity

Genotype
MGI:3053001

cn68

• Allelic Composition: Gata4^tm1.1Sad/Gata4^tm1.1Sad; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

cardiovascular system

cardiovascular system phenotype ( J:92434 )

N • despite the absence of Gata4 in the endocardium, trabeculae were found in E10.5 embryos

Genotype
MGI:3611343

cn69

• Allelic Composition: Prox1^tm2Gco/Prox1⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * NMRI * SJL

mortality/aging

postnatal lethality, incomplete penetrance ( J:102652 )

• most mutants die within a few days of birth but some survive to adulthood

immune system

abnormal lymph circulation ( J:102652 )

• leakage of chyle from the mesenteric vessels is seen in neonates that die postnatally, but not in surviving adults

abnormal lymphatic vessel morphology ( J:102652 )

• lymph vessels are mispatterned and dilated similar to Prox1^tm1Gco heterozygotes

digestive/alimentary system

abnormal intestine morphology ( J:102652 )

• accumulation of lipid is seen in the intestine walls

growth/size/body

increased susceptibility to age related obesity ( J:102652 )

• some mutants display weight gain similar to Prox1^tm1Gco heterozygotes, but the occurrence is decreased

homeostasis/metabolism

edema ( J:102652 )

• at E14.5 edema is seen identical to that in Prox1^tm1Gco heterozygotes

chylothorax ( J:102652 )

• mutants that die within a few days of birth have milky chylous ascites in the peritoneal cavity and thoracic cavity; however, leakage is not seen in surviving adults

cardiovascular system

abnormal lymph circulation ( J:102652 )

• leakage of chyle from the mesenteric vessels is seen in neonates that die postnatally, but not in surviving adults

respiratory system

chylothorax ( J:102652 )

• mutants that die within a few days of birth have milky chylous ascites in the peritoneal cavity and thoracic cavity; however, leakage is not seen in surviving adults

Genotype
MGI:3851403

cn70

• Allelic Composition: Zfpm2^tm1Sho/Zfpm2^tm2Sho; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:150452 )

N • survival rate to weaning is normal

cardiovascular system

cardiovascular system phenotype ( J:150452 )

N • coronary plexus, endocardial cushions and compact myocardial layer develop normally

N • adults have normal tricuspid and mitral valves

Genotype
MGI:6510800

cn71

• Allelic Composition: Rasa3^tm1.1Llp/Rasa3^tm1.1Llp; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J * SJL/J

cardiovascular system

hemorrhage ( J:301035 )

mortality/aging

embryonic lethality prior to tooth bud stage ( J:301035 )

• all die in utero at E12.5 and E13.5 with severe hemorrhage and diminished fetal liver erythropoiesis

embryo

abnormal embryonic hematopoiesis ( J:301035 )

hematopoietic system

abnormal embryonic hematopoiesis ( J:301035 )

Genotype
MGI:5499117

cn72

• Allelic Composition: Pros1^tm1Grl/Pros1^tm1Grl; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S1/SvImJ * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:198769 )

N • embryos and adults are viable

cardiovascular system

cardiovascular system phenotype ( J:198769 )

N • mice exhibit normal vascular permeability in the liver

homeostasis/metabolism

abnormal thrombosis ( J:198769 )

• focal fibrin deposits are not associated with vascular occlusion or hemorrhage

Genotype
MGI:5432552

cn73

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm1Glm; Tg(Tek-cre)1Ywa/0; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * SJL

cardiovascular system

abnormal cardiac outflow tract development ( J:185683 )

• boundary of the proximal outflow tract (pOFT) and distal outflow tract (dOFT) at the outflow tract bend is distrupted, with an extension of endocardium-derived mesenchyme into the dOFT cushion in mutants

Genotype
MGI:5297712

cn74

• Allelic Composition: Msx1^tm1Rem/Msx1^tm1Rem; Msx2^tm1Yvla/Msx2^tm1Yvla; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * NMRI * SJL

cardiovascular system

cardiovascular system phenotype ( J:173525 )

N • carotid artery diamter and vascular smooth muscle cell (VSMC) are observed

Genotype
MGI:3759849

cn75

• Allelic Composition: Itgav^tm2Hyn/Itgav^tm2.1Hyn; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB * SJL

mortality/aging

premature death ( J:125508 )

• median lifespan is reduced to 44 weeks compared to wild-type mice that live past 80 weeks

• mice die of intestinal constriction

immune system

abnormal immune system morphology ( J:125508 )

abnormal leukocyte morphology ( J:125508 )

abnormal dendritic cell differentiation ( J:125508 )

• mesenteric lymph node dendritic cells cultured with CD4+CD25- T cells produce only 1% regulatory T cells compared to 4% to 5% by control dendritic cells

• CD11c^highCD103+ dendritic cells implicated in gut-homing are reduced in the mesenteric lymph nodes compared to in Itgav^tm2Hyn heterozygote controls

• however, bone marrow dendritic cells produce normal amount of regulatory T cells when cultured with CD4+CD25- T cells

decreased regulatory T cell number ( J:125508 )

• the number of regulatory T cells in the colon is decreased by 50% compared to in Itgav^tm2Hyn heterozygote controls and are predominantly adaptive regulatory T cells

increased regulatory T cell number ( J:125508 )

• the number of regulatory T cells in the spleen and mesenteric lymph nodes is increased compared to in Itgav^tm2Hyn heterozygote controls and are predominantly natural regulatory T cells

enlarged Peyer's patches ( J:125508 )

• Peyer's patches are enlarged and contain an increased proportion of activated CD4+ cells compared to control mice

enlarged mesenteric lymph nodes ( J:125508 )

• mesenteric lymph nodes are enlarged (15+/-1.1x10⁶ cells compared to 7.1+/-0.23 x10⁶ cells in Itgav^tm2Hyn heterozygote controls at 3 weeks ,and 34.2+/-6.7 x10⁶ cells compared to 8.6+/-1.6 x10⁶ cells in Itgav^tm2Hyn heterozygote controls at 12 weeks) and contain an increased proportion of activated CD4+ cells (20+/-0.81 x10⁶ cells compared to 11+/-1.3 x10⁶ cells in Itgav^tm2Hyn heterozygote controls at week 3, and 31.7+/-0.40 x10⁶ cells compared to 15+/-0.81 x10⁶ cells in Itgav^tm2Hyn heterozygote controls at week 12)

abnormal immune system physiology ( J:125508 )

impaired macrophage phagocytosis ( J:125508 )

• macrophages exhibit impaired ability to phagocytose and remove apoptotic cells with twice as many uncleared apoptotic cells present in the intestine

• macrophages are no longer sensitive to the inhibitory effects of RGD peptide

abnormal interferon level ( J:125508 )

• levels of interferon-gamma in serum and the intestine are elevated compared to in Itgav^tm2Hyn heterozygote controls

abnormal interleukin level ( J:125508 )

• IL-4 levels in serum and the intestine and IL-5 and IL-6 levels in the intestine are elevated compared to in Itgav^tm2Hyn heterozygote controls

• however, IL-12 and IL-23 levels in the intestine are normal

abnormal tumor necrosis factor level ( J:125508 )

• TNF-alpha levels in the intestine are elevated compared to in Itgav^tm2Hyn heterozygote controls

increased autoantibody level ( J:125508 )

• mice contain higher levels of autoantibodies including ones against tropomyosin, phosphotidylserine, double-stranded DNA and anti-nuclear antibodies compared to in Itgav^tm2Hyn heterozygote controls

increased inflammatory response ( J:125508 )

• mice develop inflammation in the peritoneum, in the liver, and 40% of mice nasal cavity and respiratory tract

large intestinal inflammation ( J:125508 )

• after 14 weeks of age, mice exhibit inflammation in the colon and cecum with infiltration of lymphocytes, monocytes and plasma cells

• inflammation is chronic and progressive leading to ulcers, acute inflammatory infiltrate and crypt abscesses by week 20 with extensive epithelial proliferation, regeneration and adenocarcinoma from 40 weeks

colitis ( J:125508 )

digestive/alimentary system

abnormal intestinal epithelium morphology ( J:125508 )

• by 20 weeks of age, mice exhibit extensive epithelial proliferation and regeneration

crypts of Lieberkuhn abscesses ( J:125508 )

• by 20 weeks of age

intestinal ulcer ( J:125508 )

• by 20 weeks of age

increased intestinal adenocarcinoma incidence ( J:125508 )

• after 40 weeks of age

large intestinal inflammation ( J:125508 )

• after 14 weeks of age, mice exhibit inflammation in the colon and cecum with infiltration of lymphocytes, monocytes and plasma cells

• inflammation is chronic and progressive leading to ulcers, acute inflammatory infiltrate and crypt abscesses by week 20 with extensive epithelial proliferation, regeneration and adenocarcinoma from 40 weeks

colitis ( J:125508 )

neoplasm

increased intestinal adenocarcinoma incidence ( J:125508 )

• after 40 weeks of age

growth/size/body

weight loss ( J:125508 )

• despite being born with normal weights and no developmental abnormalities, mice begin to lose weight and body condition at 12 weeks of age

hematopoietic system

impaired macrophage phagocytosis ( J:125508 )

• macrophages exhibit impaired ability to phagocytose and remove apoptotic cells with twice as many uncleared apoptotic cells present in the intestine

• macrophages are no longer sensitive to the inhibitory effects of RGD peptide

abnormal leukocyte morphology ( J:125508 )

abnormal dendritic cell differentiation ( J:125508 )

• mesenteric lymph node dendritic cells cultured with CD4+CD25- T cells produce only 1% regulatory T cells compared to 4% to 5% by control dendritic cells

• CD11c^highCD103+ dendritic cells implicated in gut-homing are reduced in the mesenteric lymph nodes compared to in Itgav^tm2Hyn heterozygote controls

• however, bone marrow dendritic cells produce normal amount of regulatory T cells when cultured with CD4+CD25- T cells

decreased regulatory T cell number ( J:125508 )

• the number of regulatory T cells in the colon is decreased by 50% compared to in Itgav^tm2Hyn heterozygote controls and are predominantly adaptive regulatory T cells

increased regulatory T cell number ( J:125508 )

• the number of regulatory T cells in the spleen and mesenteric lymph nodes is increased compared to in Itgav^tm2Hyn heterozygote controls and are predominantly natural regulatory T cells

endocrine/exocrine glands

crypts of Lieberkuhn abscesses ( J:125508 )

• by 20 weeks of age

homeostasis/metabolism

abnormal interferon level ( J:125508 )

• levels of interferon-gamma in serum and the intestine are elevated compared to in Itgav^tm2Hyn heterozygote controls

abnormal interleukin level ( J:125508 )

• IL-4 levels in serum and the intestine and IL-5 and IL-6 levels in the intestine are elevated compared to in Itgav^tm2Hyn heterozygote controls

• however, IL-12 and IL-23 levels in the intestine are normal

abnormal tumor necrosis factor level ( J:125508 )

• TNF-alpha levels in the intestine are elevated compared to in Itgav^tm2Hyn heterozygote controls

cellular

abnormal dendritic cell differentiation ( J:125508 )

• mesenteric lymph node dendritic cells cultured with CD4+CD25- T cells produce only 1% regulatory T cells compared to 4% to 5% by control dendritic cells

• CD11c^highCD103+ dendritic cells implicated in gut-homing are reduced in the mesenteric lymph nodes compared to in Itgav^tm2Hyn heterozygote controls

• however, bone marrow dendritic cells produce normal amount of regulatory T cells when cultured with CD4+CD25- T cells

impaired macrophage phagocytosis ( J:125508 )

• macrophages exhibit impaired ability to phagocytose and remove apoptotic cells with twice as many uncleared apoptotic cells present in the intestine

• macrophages are no longer sensitive to the inhibitory effects of RGD peptide

Genotype
MGI:5762545

cn76

• Allelic Composition: Egr2^tm3Pch/Egr2^tm3Pch; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

cardiovascular system

aorta stenosis ( J:230306 )

thick pulmonary valve cusps ( J:230306 )

• increase in thickness of pulmonary valve leaflets at E18.5

• however, no obvious anomalies in the atrioventricular valves, mitral or tricuspid valves

abnormal heart left ventricle morphology ( J:230306 )

• mice with accelerated aortic velocity show an increase in left ventricular mass

heart left ventricle hypertrophy ( J:230306 )

• first signs of left ventricular concentric hypertrophy are seen at 3 months of age

abnormal aortic valve cusp morphology ( J:230306 )

• relative surface of the aortic valve is increased

• the number of interstitial cells of the aortic valve is increased on average of 1.97 times

• increase in the intercellular space throughout the leaflets compared with controls

• the extracellular matrix layers of the aortic valve are expanded

• disorganization of the extracellular matrix, with a decrease of collagen deposition, increased proteoglycan deposition, and dispersion of elastin fibers in the distal thickened region of the aortic valve leaflets

thick aortic valve cusps ( J:230306 )

• dysmorphic and enlarged aortic valve leaflets, with thickening restricted to the distal tip of the leaflets

abnormal cardiovascular system physiology ( J:230306 )

• 4 of 11 mice exhibit acceleration of aortic velocity suggesting an increase in aortic stroke volume and/or an obstruction across the aortic valve caused by thickened leaflets

aortic valve regurgitation ( J:230306 )

• aorta shows flow reversal in 100% of 3 month old mice

muscle

heart left ventricle hypertrophy ( J:230306 )

• first signs of left ventricular concentric hypertrophy are seen at 3 months of age

growth/size/body

heart left ventricle hypertrophy ( J:230306 )

• first signs of left ventricular concentric hypertrophy are seen at 3 months of age

Genotype
MGI:3844980

cn77

• Allelic Composition: Tg(Tek-cre)1Ywa/0; Thbd^tm2Rdr/Thbd^tm2Wlr
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

Venous and arterial thrombi and extravascular fibrinogen deposition in the lungs of Thbd^tm2Rdr/Thbd^tm2Wlr Tg(Tek-cre)1Ywa/0 mice

mortality/aging

premature death ( J:71269 )

• by 25 weeks of age, most mice die secondary to consumptive coagulopathy or progressive thrombosis, hemorrhage/necrosis of individual digits, extremities, skin, ears, tongue, or priapism

• male mice exhibit shorter life spans compared with female mice (100% at 20 and 30 weeks, respectively)

• unlike wild-type mice, some mice develop lethal cerebral or intrathoracic hemorrhaging that cannot be prevented by warfarin treatment

• however, gonadectomized mice do not display any gender-specific difference in life span

lethality throughout fetal growth and development, incomplete penetrance ( J:71269 )

• although present in Mendelian ratios at E9.5 and E10.5, fewer than expected mice are present at E14.5 and E16.5

embryonic lethality during organogenesis, incomplete penetrance ( J:71269 )

• 40% of mice die around E10.5

reproductive system

priapism ( J:71269 )

♂ • in 8% of male mice and occasionally associated with necrosis of testis

cardiovascular system

enlarged heart ( J:71269 )

• at 5 to 8 weeks

increased heart weight ( J:71269 )

• beginning at 3 weeks of age

increased heart right ventricle weight ( J:71269 )

cardiac fibrosis ( J:71269 )

• at 8 weeks, mice develop multifoci myocardial fibrosis unlike wild-type mice

hemothorax ( J:71269 )

• some mice exhibit lethal intrathoracic hemorrhaging unlike wild-type mice

• warfarin treatment fails to improve overall survival in these mice

lung hemorrhage ( J:71269 )

• in 10% of mice

gastrointestinal hemorrhage ( J:71269 )

• in 8% of mice

intracerebral hemorrhage ( J:71269 )

• some mice exhibit lethal cerebral hemorrhaging unlike wild-type mice

• warfarin treatment fail to improve overall survival in these mice

liver hemorrhage ( J:71269 )

skin hemorrhage ( J:71269 )

• early skin lesions on extremities, hindlimbs, the perianal region, abdominal skin, and ears consist of small hemorrhagic lesions that increase in size and become necrotic

• 67% of mice exhibit subcutaneous hemorrhage unlike wild-type mice

• however, treatment with warfarin between 3 and 11 weeks prevents development of hemorrhagic or necrotic skin lesions

pulmonary hypertension ( J:71269 )

• due to increased resistance in the pulmonary vascular bed as a consequence of recurrent embolic and/or vascular lung injury

homeostasis/metabolism

increased circulating D-dimer level ( J:71269 )

• plasma D-Dimer levels are increased at 3, 5, and 8 weeks compared to in wild-type mice

increased circulating interleukin-6 level ( J:71269 )

• in older mice due to widespread organ damage

abnormal blood coagulation ( J:71269 )

• in terminal mice, whole-blood clotting time is prolonged compared to in wild-type mice and 6 mice fail to form clots within 60 minutes

• plasma levels of thrombin-antithrombin (TAT) complexes and D-Dimer are increased at 3, 5, and 8 weeks compared to in wild-type mice

abnormal thrombosis ( J:71269 )

• mice develop age- and gender-dependent progression of thrombosis that leads to lethal consumptive coagulopathy

• mice exhibit multiple venous and arterial thrombi that are fibrin-rich with few cellular components

• however, no thrombi occur in the cardiac atria and treatment with warfarin between 3 and 11 weeks prevents thrombosis

abnormal placental thrombosis ( J:71269 )

• at E10.5, 36% of mice exhibit pallor or placenta thrombosis unlike wild-type mice

abnormal acute phase protein level ( J:71269 )

• fibrinogen deposits in the lungs are increased compared to in wild-type mice

• at 3 weeks, mice exhibit increased consumption of fibrinogen compared to wild-type mice

• however, fibrinogen levels increased in older mice due to compensation

hematuria ( J:71269 )

• in 1% of mice

respiratory system

hemothorax ( J:71269 )

• some mice exhibit lethal intrathoracic hemorrhaging unlike wild-type mice

• warfarin treatment fails to improve overall survival in these mice

lung hemorrhage ( J:71269 )

• in 10% of mice

abnormal lung morphology ( J:71269 )

• at 3 weeks, lungs have increased extravascular fibrinogen depositions compared to in wild-type mice associated with increased extracellular matrix and a disruption of the tissue architecture resulting in distention of terminal airways and alveoli, destruction of the alveolar septa, and, in severe cases, formation of bullae

hematopoietic system

increased spleen weight ( J:71269 )

• at 8 weeks, mice exhibit increased spleen weight compared to in wild-type mice

• however, treatment with warfarin between 3 and 11 weeks prevents increased spleen weight

increased megakaryocyte cell number ( J:71269 )

• at 8 weeks, the number of megakaryocytes per splenocytes is increased compared to in wild-type mice

thrombocytopenia ( J:71269 )

• at 3 weeks, mice exhibit lower than normal platelet counts

• however, platelet counts are normalized in older mice due to compensation

immune system

increased spleen weight ( J:71269 )

• at 8 weeks, mice exhibit increased spleen weight compared to in wild-type mice

• however, treatment with warfarin between 3 and 11 weeks prevents increased spleen weight

increased circulating interleukin-6 level ( J:71269 )

• in older mice due to widespread organ damage

abnormal acute phase protein level ( J:71269 )

• fibrinogen deposits in the lungs are increased compared to in wild-type mice

• at 3 weeks, mice exhibit increased consumption of fibrinogen compared to wild-type mice

• however, fibrinogen levels increased in older mice due to compensation

growth/size/body

enlarged heart ( J:71269 )

• at 5 to 8 weeks

increased heart weight ( J:71269 )

• beginning at 3 weeks of age

decreased body size ( J:71269 )

• after weaning, 14% of mice are runted

decreased body weight ( J:71269 )

• from the first week after birth through 8 weeks post-weaning, mice exhibit decreased body weight

• however, treatment with warfarin between 3 and 11 weeks prevents reduced body weight

slow postnatal weight gain ( J:71269 )

• over the 8 weeks following weaning

increased spleen weight ( J:71269 )

• at 8 weeks, mice exhibit increased spleen weight compared to in wild-type mice

• however, treatment with warfarin between 3 and 11 weeks prevents increased spleen weight

liver/biliary system

liver hemorrhage ( J:71269 )

abnormal liver morphology ( J:71269 )

• 36% of mice exhibit liver lesions consisting of liver infarcts or hemorrhagic liver swellings unlike wild-type mice

renal/urinary system

hematuria ( J:71269 )

• in 1% of mice

digestive/alimentary system

gastrointestinal hemorrhage ( J:71269 )

• in 8% of mice

integument

skin hemorrhage ( J:71269 )

• early skin lesions on extremities, hindlimbs, the perianal region, abdominal skin, and ears consist of small hemorrhagic lesions that increase in size and become necrotic

• 67% of mice exhibit subcutaneous hemorrhage unlike wild-type mice

• however, treatment with warfarin between 3 and 11 weeks prevents development of hemorrhagic or necrotic skin lesions

pallor ( J:71269 )

• at E10.5, 36% of mice exhibit pallor or placenta thrombosis unlike wild-type mice

nervous system

intracerebral hemorrhage ( J:71269 )

• some mice exhibit lethal cerebral hemorrhaging unlike wild-type mice

• warfarin treatment fail to improve overall survival in these mice

Genotype
MGI:5576524

cn78

• Allelic Composition: Xbp1^tm1.1Geno/Xbp1^tm1.1Geno; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

cardiovascular system

abnormal retina blood vessel morphology ( J:211440 )

• larger avascular area at P7 without blood vessels extending from inner retina toward the outer retina compared with control mice

• the peripheral part of the outer retina remains nonvascularized at P14

abnormal physiological neovascularization ( J:211440 )

• following hindlimb ischemia and reperfusion, mice exhibit reduced neovascularization compared with control mice

decreased angiogenesis ( J:211440 )

• larger avascular area at P7 without blood vessels extending from inner retina toward the outer retina compared with control mice

• the peripheral part of the outer retina remains nonvascularized at P14

abnormal blood flow velocity ( J:211440 )

• following hindlimb ischemia and reperfusion, mice exhibit reduced blood flow compared with control mice

homeostasis/metabolism

abnormal response to injury ( J:211440 )

• following hindlimb ischemia and reperfusion, mice exhibit reduced blood flow, necrotic paw tip in 8 of 9 mice and reduced neovascularization compared with control mice

• however, transplantation with wild-type bone marrow increases blood reperfusion

vision/eye

abnormal retina blood vessel morphology ( J:211440 )

• larger avascular area at P7 without blood vessels extending from inner retina toward the outer retina compared with control mice

• the peripheral part of the outer retina remains nonvascularized at P14

Genotype
MGI:5699726

cn79

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

cardiovascular system

abnormal cardiac outflow tract development ( J:226941 )

• E9.75 embryos exhibit a near complete absence of epithelial-to-mesenchymal transition in the proximal outflow tract

abnormal atrioventricular cushion morphology ( J:226941 )

• E9.75 embryos exhibit a near complete absence of epithelial-to-mesenchymal transition in the atrioventricular canal cushions

Genotype
MGI:6360911

cn80

• Allelic Composition: Vgll4^{tm1b(EUCOMM)Hmgu}/Vgll4^{tm1c(EUCOMM)Hmgu}; Yap1^tm1.1Fcam/Yap1⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6N * CBA * SJL

cardiovascular system

cardiovascular system phenotype ( J:273437 )

N • hearts are normal morphology and function with normal valve thickness and cardiomyocyte proliferation and apoptosis rates

Genotype
MGI:3783710

cn81

• Allelic Composition: Socs1^tm1Ayos/Socs1^tm1Ayos; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

mortality/aging

premature death ( J:132905 )

• mice die by 50 days of age of diseases similar to those observed in other Socs1 null mice

immune system

decreased CD4-positive, alpha-beta T cell number ( J:132905 )

• mice exhibit decreased numbers of CD4+ T cells in the thymus and spleen compared to in wild-type mice

increased CD8-positive, alpha-beta T cell number ( J:132905 )

• mice exhibit increased numbers of CD8+ T cells compared to in wild-type mice

hematopoietic system

decreased CD4-positive, alpha-beta T cell number ( J:132905 )

• mice exhibit decreased numbers of CD4+ T cells in the thymus and spleen compared to in wild-type mice

increased CD8-positive, alpha-beta T cell number ( J:132905 )

• mice exhibit increased numbers of CD8+ T cells compared to in wild-type mice

Genotype
MGI:5444193

cn82

• Allelic Composition: Pparg^tm2Rev/Pparg^tm2Rev; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

growth/size/body

heart right ventricle hypertrophy ( J:155909 )

• increased in normal air but similar to controls when both are under hypoxia

postnatal growth retardation ( J:123403 )

• low body weight at weaning strictly dependent on maternal genotype

• body weight is normal in the first post natal week

• weight gain ceases completely at 10 days of age and does not resume until after weaning

enlarged spleen ( J:130475 )

• spleen to body weight ratio increases 1.4-2 fold in adults and in 5 and 18 day old pups

integument

skin inflammation ( J:123403 )

• leukocyte infiltration around follicles between 20 and 32 days

• macrophage accumulate in the skin starting at 10 days

abnormal skin adnexa morphology ( J:123403 )

abnormal mammary gland alveolus morphology ( J:123403 )

• fewer lobular alveolar structures in female mammary glands at day 4 of lactation

• more and larger adipocytes in female mammary glands at day 4 of lactation

premature hair loss ( J:123403 )

• near complete hair loss on the trunk strictly dependent on maternal genotype

• fostering on wild-type mothers corrects hair loss

• hair loss begins around 16 days of age and is complete on the trunk at about 18 days

• new hair growth begins 2-3 weeks after weaning and coat remains normal thereafter

abnormal hair follicle morphology ( J:123403 )

• formation of follicular cysts leading to shaft ejection at 20 days

abnormal hair cycle ( J:123403 )

abnormal hair cycle anagen phase ( J:123403 )

• new anagen phase does not begin until around 32 days

abnormal hair shedding ( J:123403 )

• formation of follicular cysts leading to shaft ejection at 20 days

liver/biliary system

pale liver ( J:123403 )

• pale liver with increased lipid accumulation

cardiovascular system

abnormal pulmonary artery morphology ( J:155909 )

• increased number of muscularized distal pulmonary arteries

heart right ventricle hypertrophy ( J:155909 )

• increased in normal air but similar to controls when both are under hypoxia

increased right ventricle systolic pressure ( J:155909 )

• increased in normal air but similar to controls when both are under hypoxia

• less complete recovery from hypoxia than controls 4 weeks after return to normal air

homeostasis/metabolism

increased triglyceride level ( J:155909 )

• higher triglyceride levels

• higher triglyceride/HDL

skeleton

abnormal bone structure ( J:130475 )

• irregular, uneven bone structure

abnormal osteoclast morphology ( J:130475 )

abnormal osteoclast differentiation ( J:160910 )

• fail to produce osteoclasts in response to rosiglitazone treatment

• no increase in osteoclast numbers

decreased osteoclast cell number ( J:130475 )

• fewer osteoclasts in femur sections while osteoblast numbers are unchanged

abnormal bone marrow cavity morphology ( J:130475 )

• decreased medullary cavity space

increased bone mineral density ( J:130475 )

• 30-70% increase

increased bone volume ( J:130475 )

• bone volume/tissue volume ratio is 40-70% higher than controls in both the proximal and distal regions of the femur and tibia

• increased bone volume

abnormal trabecular bone morphology ( J:130475 )

increased trabecular bone volume ( J:130475 )

abnormal bone trabecula morphology ( J:130475 , J:160910 )

• decreased trabecular separation (J:130475)

• no loss of trabecular bone after rosiglitazone treatment as occurs in controls (J:160910)

increased bone trabecula number ( J:130475 )

increased trabecular bone thickness ( J:130475 )

hematopoietic system

hematopoietic system phenotype ( J:130475 )

N • white blood cell, red blood cell, and platelet counts remain normal

extramedullary hematopoiesis ( J:130475 )

abnormal bone marrow cell morphology/development ( J:130475 )

decreased bone marrow cell number ( J:130475 )

• 35% decrease in cellularity

• both erythroid and granulocytic/monocytic

• hematopoietic stem cells reduced 56%

abnormal osteoclast morphology ( J:130475 )

abnormal osteoclast differentiation ( J:160910 )

• fail to produce osteoclasts in response to rosiglitazone treatment

• no increase in osteoclast numbers

decreased osteoclast cell number ( J:130475 )

• fewer osteoclasts in femur sections while osteoblast numbers are unchanged

abnormal spleen morphology ( J:130475 )

enlarged spleen ( J:130475 )

• spleen to body weight ratio increases 1.4-2 fold in adults and in 5 and 18 day old pups

abnormal splenocyte morphology ( J:130475 )

• accumulation of megakaryocytes in the spleen

increased splenocyte number ( J:130475 )

• 63% increase in spleen cellularity

• both erythroid and granulocytic/monocytic

• hematopoietic stem cells increased 275%

immune system

abnormal osteoclast morphology ( J:130475 )

abnormal osteoclast differentiation ( J:160910 )

• fail to produce osteoclasts in response to rosiglitazone treatment

• no increase in osteoclast numbers

decreased osteoclast cell number ( J:130475 )

• fewer osteoclasts in femur sections while osteoblast numbers are unchanged

abnormal spleen morphology ( J:130475 )

enlarged spleen ( J:130475 )

• spleen to body weight ratio increases 1.4-2 fold in adults and in 5 and 18 day old pups

abnormal splenocyte morphology ( J:130475 )

• accumulation of megakaryocytes in the spleen

increased splenocyte number ( J:130475 )

• 63% increase in spleen cellularity

• both erythroid and granulocytic/monocytic

• hematopoietic stem cells increased 275%

skin inflammation ( J:123403 )

• leukocyte infiltration around follicles between 20 and 32 days

• macrophage accumulate in the skin starting at 10 days

cellular

abnormal osteoclast differentiation ( J:160910 )

• fail to produce osteoclasts in response to rosiglitazone treatment

• no increase in osteoclast numbers

endocrine/exocrine glands

abnormal mammary gland alveolus morphology ( J:123403 )

• fewer lobular alveolar structures in female mammary glands at day 4 of lactation

• more and larger adipocytes in female mammary glands at day 4 of lactation

muscle

heart right ventricle hypertrophy ( J:155909 )

• increased in normal air but similar to controls when both are under hypoxia

Genotype
MGI:4843167

cn83

• Allelic Composition: Pkd1^tm1Ggg/Pkd1^tm2Ggg; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

mortality/aging

perinatal lethality, incomplete penetrance ( J:165114 )

• despite Mendelian ratios at E18.5, fewer than expected live born mice are observed

embryo

abnormal placenta vasculature ( J:165114 )

• mice exhibit dilation of maternal vasculature in the placenta unlike in wild-type mice

• fewer fetal vessels and investing pericytes are present in the placenta compared to in wild-type mice

• fewer branched placental vessels are observed compared to in wild-type mice

• however, placental layer size is normal

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:165114 )

N • unlike in null mice, no edema is observed

polyhydramnios ( J:165114 )

cardiovascular system

abnormal placenta vasculature ( J:165114 )

• mice exhibit dilation of maternal vasculature in the placenta unlike in wild-type mice

• fewer fetal vessels and investing pericytes are present in the placenta compared to in wild-type mice

• fewer branched placental vessels are observed compared to in wild-type mice

• however, placental layer size is normal

hemorrhage ( J:165114 )

• in a small fraction of mice

Genotype
MGI:5014818

cn84

• Allelic Composition: Slc25a37^tm1.1Kapl/Slc25a37^tm1.2Kapl; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J * C57BL/6NCr * SJL

mortality/aging

prenatal lethality, complete penetrance ( J:173284 )

• no live mice can be identified

Genotype
MGI:6150907

cn85

• Allelic Composition: Pgp^tm1.1Ango/Pgp^tm1.1Ango; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6J * SJL

embryo

embryo phenotype ( J:259970 )

N • no haemorrhages

growth/size/body

growth/size/body region phenotype ( J:259970 )

N • size and development comparable to wild-type

hematopoietic system

hematopoietic system phenotype ( J:259970 )

N • no haemorrhages during embryonic development

mortality/aging

mortality/aging ( J:259970 )

N • born at expected Mendelian ratio and viable

reproductive system

reproductive system phenotype ( J:259970 )

N • fertile

Genotype
MGI:5140931

cn86

• Allelic Composition: Pdgfrb^{tm14(Pdgfrb)Sor}/Pdgfrb⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:173602 )

• mice exhibit no distinguishable phenotype

Genotype
MGI:6147345

cn87

• Allelic Composition: Cd99l2^tm1.1Dvst/Cd99l2^tm1.1Dvst; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

cellular

cellular phenotype ( J:193021 )

N • wild-type bone marrow-derived leukocyte rolling and tethering within endothelium-specific conditional knockout mouse cremaster venules, 4 h after intrascrotal injection with Il1b

abnormal cellular extravasation ( J:193021 )

• 36.3% reduction in extravasation of wild-type bone marrow-derived neutrophils into endothelium-specific conditional knockout mouse cremaster, 4 h after intrascrotal injection with Il1b

• 43% reduction in extravasation of wild-type bone marrow-derived neutrophils into endothelium-specific conditional knockout mouse peritoneum, 4 h after injection with thioglycollate

hematopoietic system

abnormal cellular extravasation ( J:193021 )

• 36.3% reduction in extravasation of wild-type bone marrow-derived neutrophils into endothelium-specific conditional knockout mouse cremaster, 4 h after intrascrotal injection with Il1b

• 43% reduction in extravasation of wild-type bone marrow-derived neutrophils into endothelium-specific conditional knockout mouse peritoneum, 4 h after injection with thioglycollate

immune system

abnormal cellular extravasation ( J:193021 )

• 36.3% reduction in extravasation of wild-type bone marrow-derived neutrophils into endothelium-specific conditional knockout mouse cremaster, 4 h after intrascrotal injection with Il1b

• 43% reduction in extravasation of wild-type bone marrow-derived neutrophils into endothelium-specific conditional knockout mouse peritoneum, 4 h after injection with thioglycollate

decreased susceptibility to type IV hypersensitivity reaction ( J:193021 )

• reduced delayed-type hypersensitivity (DTH) reaction after injection of DNFB-treated wild-type bone marrow-derived T cells into DNFB-treated endothelium-specific conditional knockout mouse ears: 25% reduced T cell recruitment and 21.5% reduced ear swelling

Genotype
MGI:7442271

cn88

• Allelic Composition: Gt(ROSA)26Sor^{tm1(ADGRG6)Jlp}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl * SJL

normal phenotype

no abnormal phenotype detected ( J:315981 )

• embryos are viable and show normal heart development at E10.5, E13.5 and E16.5

Genotype
MGI:7442273

cn89

• Allelic Composition: Adgrg6^em2Jlp/Adgrg6^em2Jlp; Gt(ROSA)26Sor^{tm1(ADGRG6)Jlp}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:315981 )

• embryos die predominantly at E13.5, similar to embryos homozygous for the Adgrg6^em2Jlp allele

Genotype
MGI:5661914

cn90

• Allelic Composition: Krit1^tm1Kwhi/Krit1^tm1.1Kwhi; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:215458 )

• embryos do not survive beyond E12.5 due to failed vascular development

cardiovascular system

abnormal vascular development ( J:215458 )

• embryos exhibit failed vascular development

abnormal pharyngeal arch artery morphology ( J:215458 )

• branchial arch arteries fail to lumenize properly

abnormal blood circulation ( J:215458 )

• failure of proper embryonic circulation due to disrupted vessel formation

embryo

abnormal pharyngeal arch artery morphology ( J:215458 )

• branchial arch arteries fail to lumenize properly

craniofacial

abnormal pharyngeal arch artery morphology ( J:215458 )

• branchial arch arteries fail to lumenize properly

Genotype
MGI:3586390

cn91

• Allelic Composition: Zfpm1^tm4Sho/Zfpm1^tm4Sho; Tg(Gata1-Zfpm1)1Sho/0; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CD-1 * SJL

cardiovascular system

thin myocardium ( J:99745 )

• variably thinner than wild type but not as thin as that seen in the Zfpm1 knockout embryos

double outlet right ventricle ( J:99745 )

• observe a small degree of conal rotation, resulting in a slightly more rostral origin of the aorta from the right ventricle compared with that of the pulmonary artery

common atrioventricular valve ( J:99745 )

• have a single common atrioventricular valve

atrial septal defect ( J:99745 )

atrioventricular septal defect ( J:99745 )

ventricular septal defect ( J:99745 )

muscle

thin myocardium ( J:99745 )

• variably thinner than wild type but not as thin as that seen in the Zfpm1 knockout embryos

Genotype
MGI:7278772

cn92

• Allelic Composition: Acvr1^tm1Glh/Acvr1⁺; Gt(ROSA)26Sor^{tm1.2(CAG-EGFP)Glh}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N * SJL

homeostasis/metabolism

abnormal response to injury ( J:257905 )

• pinch injury of adult hindlimb skeletal muscle results in heterotopic ossification in 100% of mice; heterotopic skeletal lesions show that lesional tissue is typically embedded in muscle and associated soft tissues, although close apposition or fusion with limb skeletal elements is sometimes seen

• cardiotoxin-mediated injury of skeletal muscle also results in heterotopic ossification, except that this less localized injury stimulus sometimes results in tendon/ligament heterotopic ossification

• unlike in controls, regenerated muscle fibers are rarely seen in areas of lesion formation at 6 days post-injury, and instead injured muscle contains large numbers of chondrocytes and accumulations of fibroblastic cells

• by 14 days post-injury, most cartilage is replaced by bone instead of regenerated muscle fibers as in controls

• activin A injection lowers the threshold for injury-induced heterotopic ossification

• treatment with anti-activin A mAb effectively blocks injury-induced heterotopic ossification

skeleton

increased bone ossification ( J:257905 )

• spontaneous heterotopic ossification is seen as early as 5.5 months of age, and by 1 year of age, 12 of 15 mice develop spontaneous heterotopic ossification

• fibro/adipogenic progenitors represent the predominant cell-of-origin for both heterotopic cartilage and bone

• pinch injury or cardiotoxin-mediated injury of adult hindlimb skeletal muscle results in heterotopic ossification in 100% of mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
fibrodysplasia ossificans progressiva		DOID:13374	OMIM:135100	J:257905

Genotype
MGI:6360909

cn93

• Allelic Composition: Vgll4^{tm1b(EUCOMM)Hmgu}/Vgll4^{tm1c(EUCOMM)Hmgu}; Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCrl * CBA * SJL

cardiovascular system

abnormal heart development ( J:273437 )

• non-cell autonomous, enhanced proliferation of endothelial-derived valvar interstitial cells leading to valve thickening

Genotype
MGI:2681954

cn94

• Allelic Composition: S1pr1^tm1Rlp/S1pr1^tm2Rlp; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

Discontinuous smooth muscle cell coverage around the aorta in S1pr1^tm1Rlp/S1pr1^tm2Rlp Tg(Tek-cre)1Ywa/? mice

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:86450 )

• died before birth and by E14.5 no heartbeat is seen

cardiovascular system

abnormal cardiovascular system morphology ( J:86450 )

poor arterial differentiation ( J:86450 )

• vascular smooth muscle only on ventral side of aorta and vessels of the brain

• dorsal side of aorta incompletely covered with endothelium

abnormal aorta smooth muscle morphology ( J:106055 )

• discontinuous smooth muscle cell coverage is seen around the aorta

abnormal pericardial cavity morphology ( J:86450 )

• enlarged pericardial cavity at E12.5

abnormal cardiovascular system physiology ( J:86450 )

hemorrhage ( J:86450 )

• spots of bleeding on the body by E12.5

• by E13.5, massive bleeding was occuring

embryo

abnormal visceral yolk sac morphology ( J:86450 )

• by E12.5, yolk sac was edematous

• less blood than normal in vessels

limbs/digits/tail

abnormal limb morphology ( J:86450 )

• limbs underdeveloped and rounded at E12.5

muscle

abnormal aorta smooth muscle morphology ( J:106055 )

• discontinuous smooth muscle cell coverage is seen around the aorta

Genotype
MGI:5490276

cn95

• Allelic Composition: Edn1^tm1Ywa/Edn1^tm1Ywa; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

cardiovascular system

cardiovascular system phenotype ( J:196635 )

N • mice exhibit normal heart weight and rate

N • mice exhibit normal response to acute administration of vasoactive substances (captopril, angiotensin II, phenylephrine or bradykinin)

decreased mean systemic arterial blood pressure ( J:196635 )

• in light and dark phases though less pronounced in the dark phase

decreased systemic arterial diastolic blood pressure ( J:196635 )

• in light and dark phases

decreased systemic arterial systolic blood pressure ( J:196635 )

• in light and dark phases

embryo

embryo phenotype ( J:196635 )

N • mice do not exhibit developmental defects

Genotype
MGI:3695494

cn96

• Allelic Composition: Hdac7^tm1Eno/Hdac7^tm2Eno; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

embryonic lethality, complete penetrance ( J:116008 )

• embryos die by E11.5

homeostasis/metabolism

edema ( J:116008 )

cardiovascular system

abnormal cardiovascular system morphology ( J:116008 )

• embryos show all cardiovascular features of the Hdac7a^tm1Eno

dilated dorsal aorta ( J:116008 )

• enlargement of aorta is less severe than in Hdac7a^tm1Eno mutants

abnormal vascular endothelial cell morphology ( J:116008 )

• endothelial elongation is observed

abnormal vascular smooth muscle morphology ( J:116008 )

• embryos show a reduction in number of arterial smooth muscle cells

internal hemorrhage ( J:116008 )

• embryos show multifocal hemorrhages

muscle

abnormal vascular smooth muscle morphology ( J:116008 )

• embryos show a reduction in number of arterial smooth muscle cells

Genotype
MGI:4947946

cn97

• Allelic Composition: Efemp2^tm1.1Hiya/Efemp2^tm1.2Hiya; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:170883 )

• mice are indistinguishable from wild-type mice

Genotype
MGI:4844106

cn98

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

hematopoietic system

hypochromic microcytic anemia ( J:138904 )

• microcytic, hypochromic anemia

decreased erythroid progenitor cell number ( J:138904 )

• red cell hypoplasia in bone marrow at E18.5

abnormal proerythroblast morphology ( J:138904 )

• higher ratio of nucleated erythroid cells in fetuses and neonates

decreased erythrocyte cell number ( J:138904 )

• greatly reduced number of mature red blood cells in fetuses and neonates

decreased hematocrit ( J:138904 )

• decreased hematocrits of approximately 2.5 (25%) in neonates, compared with 4.7 (47%) in controls

• hematocrits in adult mutant mice remain low at 2.9

• decreased hematocrits of approximately 2.6 in mice that receive a transplant of mutant fetal liver cells, compared with 3.8 in controls

decreased mean corpuscular hemoglobin ( J:138904 )

• reduced red cell size (mean corpuscular volume) and hemoglobin content in mutant mice and in mice that receive a transplant of mutant fetal liver cells

increased red blood cell distribution width ( J:138904 )

• increased red cell distribution width

anisocytosis ( J:138904 )

microcytosis ( J:138904 )

poikilocytosis ( J:138904 )

reticulocytosis ( J:138904 )

homeostasis/metabolism

increased circulating iron level ( J:138904 )

• elevated serum iron levels and transferrin saturation in mutant mice and in mice that receive a transplant of mutant fetal liver cells

increased liver iron level ( J:138904 )

• non-heme iron overload in the liver

• periportal hepatocyte iron staining

cellular

increased apoptosis ( J:138904 )

• elevated cell death in survival response of splenic Ter119-positive cells to erythropoietin

liver/biliary system

increased liver iron level ( J:138904 )

• non-heme iron overload in the liver

• periportal hepatocyte iron staining

Genotype
MGI:4844105

cn99

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

hematopoietic system

hypochromic microcytic anemia ( J:138904 )

• microcytic, hypochromic anemia

decreased erythroid progenitor cell number ( J:138904 )

• red cell hypoplasia in bone marrow at E18.5

abnormal proerythroblast morphology ( J:138904 )

• higher ratio of nucleated erythroid cells in fetuses and neonates

decreased erythrocyte cell number ( J:138904 )

• greatly reduced number of mature red blood cells in fetuses and neonates

decreased hematocrit ( J:138904 )

• decreased hematocrits of approximately 2.5 (25%) in neonates, compared with 4.7 (47%) in controls

• hematocrits in adult mutant mice remain low at 2.9

• decreased hematocrits of approximately 2.6 in mice that receive a transplant of mutant fetal liver cells, compared with 3.8 in controls

decreased mean corpuscular hemoglobin ( J:138904 )

• reduced red cell size (mean corpuscular volume) and hemoglobin content in mutant mice and in mice that receive a transplant of mutant fetal liver cells

increased red blood cell distribution width ( J:138904 )

• increased red cell distribution width

anisocytosis ( J:138904 )

microcytosis ( J:138904 )

poikilocytosis ( J:138904 )

reticulocytosis ( J:138904 )

homeostasis/metabolism

increased circulating iron level ( J:138904 )

• elevated serum iron levels and transferrin saturation in mutant mice and in mice that receive a transplant of mutant fetal liver cells

increased liver iron level ( J:138904 )

• non-heme iron overload in the liver

• periportal hepatocyte iron staining

cellular

increased apoptosis ( J:138904 )

• elevated cell death in survival response of splenic Ter119-positive cells to erythropoietin

liver/biliary system

increased liver iron level ( J:138904 )

• non-heme iron overload in the liver

• periportal hepatocyte iron staining

Genotype
MGI:3711336

cn100

• Allelic Composition: Hey2^tm1Eno/Hey2^tm2Eno; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:121577 )

N • mice are viable

cardiovascular system

cardiovascular system phenotype ( J:121577 )

N • no detectable defects of cardiac structure are found

Genotype
MGI:4366032

cn101

• Allelic Composition: Ppp3r1^tm2Grc/Ppp3r1^tm2Grc; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:153636 )

• most embryos die at E13 due to heart valve defects

cardiovascular system

cardiovascular system phenotype ( J:153636 )

N • peripheral vasculature is not observably different from wild-type at E10.5 and 11.5; cranial, intersomitic and dorsal vessels appear normal at E10.5 and 11.5

N • at E12.5, no significant differences in endothelial cell proliferation or apoptosis are detected

abnormal vascular endothelial cell development ( J:153636 )

• coronary endothelial cells are fused and limited to the atrioventricular junction; PECAM1-positive endothelial cells are limited to basal portion of ventricles with no cells reaching the apical region of the heart

abnormal heart development ( J:153636 )

• hearts at E12.5 show limited endothelial branching compared to extensive network of endothelial tubes in wild-type

Genotype
MGI:4352855

cn102

• Allelic Composition: Pbx1^tm1Mlc/Pbx1^tm3.1Mlc; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

hematopoietic system

abnormal thymus morphology ( J:149799 )

• pronounced histological disorganization is seen in young mice

small thymus ( J:149799 )

• seen in young mice

thymus hypoplasia ( J:149799 )

• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells

abnormal definitive hematopoiesis ( J:149799 )

• slight decrease in the number of granulocyte-monocyte progenitor (GMP) cells

• decrease in the frequency of colony forming cells in semi solid culture

• reduction in stem cell and progenitor cell numbers increases progressively with age starting around 2 weeks of age

• in competitive repopulation assays mutant bone marrow cells are unable to compete with wild-type cells

• cells can engraft under noncompetitive conditions but show long term progressive graft failure

decreased common myeloid progenitor cell number ( J:149799 )

• mild decrease

decreased pro-B cell number ( J:149799 )

• decrease in B cell numbers is first significant at the pro-B stage

decreased bone marrow cell number ( J:149799 )

• hypocellular mostly as a result of a decrease in the numbers of B lineage cells

abnormal common lymphocyte progenitor cell morphology ( J:149799 )

• marked reduction in the number of common lymphoid progenitor cells

decreased B cell number ( J:149799 )

• in the bone marrow

decreased pre-B cell number ( J:149799 )

• of the subpopulations of B cells, pre-B cells are the most reduced in number

decreased T cell number ( J:149799 )

• all T cell lineages are reduced in number in the thymus starting from the earliest immature DN1 stage

decreased double-negative T cell number ( J:149799 )

• decrease in the number of DN1 cells

abnormal hematopoietic stem cell morphology ( J:149799 )

• increase in proliferation of long term hematopoietic stem cells suggesting a decrease in the pool of quiescent stem cells

• secondary transplant assays indicate that long term hematopoietic stem cells are impaired in self renewal

decreased hematopoietic stem cell number ( J:149799 )

• marked reduction in the Lin-c^-Kit+Sca-1+ cell population

• significant reduction in the number of long term hematopoietic stem cells

abnormal spleen morphology ( J:149799 )

• pronounced histological disorganization is seen in young mice

small spleen ( J:149799 )

• seen in young mice

spleen hypoplasia ( J:149799 )

• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells

immune system

abnormal thymus morphology ( J:149799 )

• pronounced histological disorganization is seen in young mice

small thymus ( J:149799 )

• seen in young mice

thymus hypoplasia ( J:149799 )

• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells

decreased pro-B cell number ( J:149799 )

• decrease in B cell numbers is first significant at the pro-B stage

decreased B cell number ( J:149799 )

• in the bone marrow

decreased pre-B cell number ( J:149799 )

• of the subpopulations of B cells, pre-B cells are the most reduced in number

decreased T cell number ( J:149799 )

• all T cell lineages are reduced in number in the thymus starting from the earliest immature DN1 stage

decreased double-negative T cell number ( J:149799 )

• decrease in the number of DN1 cells

abnormal spleen morphology ( J:149799 )

• pronounced histological disorganization is seen in young mice

small spleen ( J:149799 )

• seen in young mice

spleen hypoplasia ( J:149799 )

• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells

endocrine/exocrine glands

abnormal thymus morphology ( J:149799 )

• pronounced histological disorganization is seen in young mice

small thymus ( J:149799 )

• seen in young mice

thymus hypoplasia ( J:149799 )

• decrease in size is mainly the result of a decrease in the number of CD45+ hematopoietic cells

Genotype
MGI:3046801

cn103

• Allelic Composition: Tbx1^tm1Bld/Tbx1^tm3Bld; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

cardiovascular system

abnormal aortic arch morphology ( J:91013 )

• at E18.5 only those aortic arch abnormalities present in Tbx1^tm1Bld heterozygotes are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:91013

Genotype
MGI:2176965

cn104

• Allelic Composition: Gja1^tm1Dlg/Gja1^tm1Dlg; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

cardiovascular system

abnormal cardiovascular system physiology ( J:71092 )

• elevation of plasma nitric oxide levels and plasma angiotensin I and II levels

decreased heart rate ( J:71092 )

decreased systemic arterial systolic blood pressure ( J:71092 )

• mean systolic blood pressure is lower

hypotension ( J:71092 )

homeostasis/metabolism

abnormal blood homeostasis ( J:71092 )

• elevation of plasma nitric oxide levels

abnormal circulating hormone level ( J:71092 )

• elevation of plasma angiotensin I and II levels

Genotype
MGI:4441396

cn105

• Allelic Composition: Rbpj^tm1Hon/Rbpj^tm1Hon; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

embryonic lethality, incomplete penetrance ( J:158959 )

• fewer embryos than expected are found at E10.0

Genotype
MGI:5444494

cn106

• Allelic Composition: Tg(CAG-lacZ,-BMPR1A*,-EGFP)1Mis/0; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

cardiovascular system

atrioventricular septal defect ( J:189007 )

• membranous defect

Genotype
MGI:5490245

cn107

• Allelic Composition: Fkbp1a^tm1.1Shou/Fkbp1a^tm1Zuk; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

premature death ( J:195489 )

• most animals survive through gestation, but most survivors die within 8 weeks of birth likely as result of compromised cardiac function

cardiovascular system

enlarged heart ( J:195489 )

• edematous embryos at E13.5-14.5 have enlarged hearts

abnormal heart ventricle morphology ( J:195489 )

• affected mutants phenocopy Fkbp1a^tm1Zuk mice, showing ventricular hypertrabeculation and noncompaction

thin ventricle myocardium compact layer ( J:195489 )

• observed in affected mutants at E13.5-14.5

ventricular septal defect ( J:195489 )

• prominent defects (both membranous and muscular) in origin are observed in ~40% of affected embryos at E13.5-14.5

abnormal interventricular groove morphology ( J:195489 )

• affected embryos at E13.5-14.5 have hearts that are that are 'pumpkin-shaped', lacking the ventricular groove

abnormal cardiovascular system physiology ( J:195489 )

• edematous (affected) embryos at E13.5-14.5 show signs of failing hearts

• surviving mice at 8 weeks display compromised cardiac function

homeostasis/metabolism

edema ( J:195489 )

• about 1/3 of embryos at E13.5-14.5 are edematous

growth/size/body

enlarged heart ( J:195489 )

• edematous embryos at E13.5-14.5 have enlarged hearts

muscle

thin ventricle myocardium compact layer ( J:195489 )

• observed in affected mutants at E13.5-14.5

Genotype
MGI:4453460

cn108

• Allelic Composition: Tbx1^tm1Bld/Tbx1^tm3Bld; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:159824 )

• mice die between P2 and P4

immune system

abnormal lymphatic vessel morphology ( J:159824 )

• at E18.5, mice lack mesenteric lymph vessels unlike wild-type mice

abnormal lymphangiogenesis ( J:159824 )

• development of gastrointestinal lymphatic vasculature fails unlike in wild-type mice

homeostasis/metabolism

dehydration ( J:159824 )

• between P2 and P4

chylous ascites ( J:159824 )

• between P2 and P4, mice exhibit abdominal chylous ascites unlike wild-type mice

growth/size/body

postnatal growth retardation ( J:159824 )

Genotype
MGI:3689709

cn109

• Allelic Composition: Nf1^tm1Fcr/Nf1^tm1Par; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

hematopoietic system

abnormal spleen morphology ( J:114455 )

• normal splenic architecture is lost

enlarged spleen ( J:114455 )

• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors

absent spleen germinal center ( J:114455 )

• germinal centers are absent

spleen fibrosis ( J:114455 )

• splenic fibrosis is observed

immune system

abnormal spleen morphology ( J:114455 )

• normal splenic architecture is lost

enlarged spleen ( J:114455 )

• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors

absent spleen germinal center ( J:114455 )

• germinal centers are absent

spleen fibrosis ( J:114455 )

• splenic fibrosis is observed

growth/size/body

enlarged spleen ( J:114455 )

• mice show markedly enlarged spleens due to overgrowth of granulocytic precursors

Genotype
MGI:3689708

cn110

• Allelic Composition: Gt(ROSA)26Sor^tm1Fia/Gt(ROSA)26Sor⁺; Nf1^tm1Fcr/Nf1^tm1Par; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

prenatal lethality, complete penetrance ( J:114455 )

• 2 embryos are found at later stages, after expected midgestation lethality from cardiovascular failure

hematopoietic system

abnormal spleen morphology ( J:114455 )

• mice display moderate splenic enlargement and partial rescue of splenic architecture

• germinal centers are present

• splenic fibrosis is not observed

immune system

abnormal spleen morphology ( J:114455 )

• mice display moderate splenic enlargement and partial rescue of splenic architecture

• germinal centers are present

• splenic fibrosis is not observed

nervous system

abnormal dorsal root ganglion morphology ( J:114455 )

• marked enlargement of dorsal root ganglia and other neural crest derived tissues is observed

Genotype
MGI:3848821

cn111

• Allelic Composition: Plxnd1^tm1.1Tmj/Plxnd1^tm1.1Tmj; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:143763 )

• all but 1 mouse died by P2

neonatal lethality, incomplete penetrance ( J:143763 )

• many mice die by P1

cardiovascular system

abnormal blood vessel morphology ( J:143763 )

• mice exhibit abnormal microvasculature within bones

• however, large vessels attached to the long bones appear intact

abnormal aorta morphology ( J:143763 )

• the root of the aorta is located more distally from the ascending portion of the truncus arteriosis or from the ascending aorta than in wild-type mice

right aortic arch ( J:143763 )

• in most mice

abnormal intersomitic vessel morphology ( J:143763 )

• at E11.5, mice exhibit poor remodeling of the vascular plexus of the immature intersomitic vessels unlike in wild-type mice

abnormal myocardium layer morphology ( J:143763 )

• mice exhibit abnormally condensed discontinuous atrial myocardial architecture unlike in wild-type mice

• the atrial myocardium is separated from the epicardium unlike in wild-type mice

• the ventricular myocardial wall is abnormal and unusual epicardial blood islands unlike in wild-type mice

abnormal truncus arteriosus septation ( J:143763 )

• the outflow tract is malrotated compared to in wild-type mice

persistent truncus arteriosus ( J:143763 )

• in most mice

abnormal coronary vessel morphology ( J:143763 )

• at E12.5, mice exhibit coronary vessel defects

• originate more distally from the ascending portion of the truncus arteriosus, or from the ascending aorta (when partial or compete septation was present) in all mutant hearts examined (N=5)

abnormal heart atrium morphology ( J:143763 )

• the atria appear raspberry-like

• mice exhibit abnormally condensed discontinuous atrial myocardial architecture unlike in wild-type mice

dilated heart atrium ( J:143763 )

ventricular septal defect ( J:143763 )

detached epicardium ( J:143763 )

• the atrial myocardium is separated from the epicardium unlike in wild-type mice

• the ventricular myocardial wall is abnormal and unusual epicardial blood islands are present unlike in wild-type mice

hemorrhage ( J:143763 )

• mice exhibit subcutaneous hemorrhage, especially in the head, unlike in wild-type mice

• small hemorrhages are observed in the ventricular walls unlike in wild-type mice

intracranial hemorrhage ( J:143763 )

skeleton

rib fusion ( J:143763 )

• at E15.5

abnormal vertebral body morphology ( J:143763 )

• poorly formed and frequently fused or split in the lumbar and thoracic regions

fusion of vertebral bodies ( J:143763 )

• frequently fused in the lumbar and thoracic regions

• in the one mouse that survives into adulthood, vertebral bodies are fused along the entire anterior-posterior axis

nervous system

intracranial hemorrhage ( J:143763 )

homeostasis/metabolism

cyanosis ( J:143763 )

• at birth

growth/size/body

decreased body height ( J:143763 )

limbs/digits/tail

short tail ( J:143763 )

muscle

abnormal myocardium layer morphology ( J:143763 )

• mice exhibit abnormally condensed discontinuous atrial myocardial architecture unlike in wild-type mice

• the atrial myocardium is separated from the epicardium unlike in wild-type mice

• the ventricular myocardial wall is abnormal and unusual epicardial blood islands unlike in wild-type mice

Genotype
MGI:4843169

cn112

• Allelic Composition: Pkd2^tm1.1Tjwt/Pkd2^tm1.1Tjwt; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6 * SJL

mortality/aging

perinatal lethality, incomplete penetrance ( J:165114 )

• fewer than expected mice are recovered in the perinatal period

prenatal lethality, incomplete penetrance ( J:165114 )

• fewer than expected mice are recovered between E8.5 and E15.5

embryo

abnormal placenta vasculature ( J:165114 )

• mice exhibit dilation of maternal vasculature in the placenta unlike in wild-type mice

• fewer fetal vessels and investing pericytes are present in the placenta compared to in wild-type mice

• fewer branched placental vessels are observed compared to in wild-type mice

• however, placental layer size is normal

cardiovascular system

abnormal placenta vasculature ( J:165114 )

• mice exhibit dilation of maternal vasculature in the placenta unlike in wild-type mice

• fewer fetal vessels and investing pericytes are present in the placenta compared to in wild-type mice

• fewer branched placental vessels are observed compared to in wild-type mice

• however, placental layer size is normal

hemorrhage ( J:165114 )

• in a small fraction of mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:165114 )

N • unlike in null mice, no edema is observed

polyhydramnios ( J:165114 )

Genotype
MGI:4353416

cn113

• Allelic Composition: Ets1^tm1Jml/Ets1^tm1Jml; Ets2^tm5.1Rgo/Ets2^tm5.1Rgo; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

mortality/aging

embryonic lethality, complete penetrance ( J:151187 )

• die before E14.5

cellular

increased vascular endothelial cell apoptosis ( J:151187 )

• increase in endothelial cell apoptosis at E11.5 and E13.5

cardiovascular system

abnormal vascular branching morphogenesis ( J:151187 )

• defect in branching seen at E10.5 and E11.5

• increase in inter blood vessel spacing

increased vascular endothelial cell apoptosis ( J:151187 )

• increase in endothelial cell apoptosis at E11.5 and E13.5

Genotype
MGI:7543476

cn114

• Allelic Composition: Sox7^tm1Dsco/Sox7^tm1.1Dsco; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

mortality/aging

prenatal lethality, complete penetrance ( J:338879 )

• most embryos die prior to E15.5; two rare survivors are found at E15.5

cardiovascular system

ventricular septal defect ( J:338879 )

• one of 2 rare embryos that survived to E15.5 show a ventricular septal defect (VSD), not observed in control embryos

Genotype
MGI:7543477

cn115

• Allelic Composition: Sox7^tm1Dsco/Sox7^tm1Dsco; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

mortality/aging

prenatal lethality, complete penetrance ( J:338879 )

• most embryos died prior to E15.5; one rare survivor was found at E15.5

cardiovascular system

atrioventricular cushion hypoplasia ( J:338879 )

• at E10.5, atrioventricular (AV) endocardial cushions were hypocellular with a severe reduction in mesenchymal cell density relative to control embryos

ventricular septal defect ( J:338879 )

• single embryo that survived to E15.5 showed a ventricular septal defect (VSD)

Genotype
MGI:4461914

cn116

• Allelic Composition: Ppargc1b^tm1.2Rev/Ppargc1b^tm1.2Rev; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129/Sv * C57BL/6 * C57BL/6J * SJL

skeleton

abnormal osteoclast differentiation ( J:160910 )

• bone marrow cells in vitro stimulated with rosiglitazone exhibit reduced differentiation into osteoclasts compared with similarly treated bone marrow cells from Ppargc1b^tm1.2Rev homozygotes

decreased bone resorption ( J:160910 )

• mice are resistant to rosiglitazone-induced bone loss unlike Ppargc1b^tm1.2Rev homozygotes

immune system

abnormal osteoclast differentiation ( J:160910 )

• bone marrow cells in vitro stimulated with rosiglitazone exhibit reduced differentiation into osteoclasts compared with similarly treated bone marrow cells from Ppargc1b^tm1.2Rev homozygotes

hematopoietic system

abnormal osteoclast differentiation ( J:160910 )

• bone marrow cells in vitro stimulated with rosiglitazone exhibit reduced differentiation into osteoclasts compared with similarly treated bone marrow cells from Ppargc1b^tm1.2Rev homozygotes

cellular

abnormal osteoclast differentiation ( J:160910 )

• bone marrow cells in vitro stimulated with rosiglitazone exhibit reduced differentiation into osteoclasts compared with similarly treated bone marrow cells from Ppargc1b^tm1.2Rev homozygotes

Genotype
MGI:5581955

cn117

• Allelic Composition: Ctnnb1^tm1Mmt/Ctnnb1⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

mortality/aging

embryonic lethality, complete penetrance ( J:178340 )

Genotype
MGI:3710341

cn118

• Allelic Composition: Foxm1^tm1Rhc/Foxm1^tm1Rhc; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

mortality/aging

lethality during fetal growth through weaning, incomplete penetrance ( J:119481 )

• approximately 20% die in late gestation-postnatally

cardiovascular system

cardiovascular system phenotype ( J:119481 )

N • in the heart, no morphological defects are seen in the structure of coronary vessels and cardiac microcirculation, or in atrioventricular valves and the ventricular outflow tract and mutants have normal numbers of cardiomyocytes

abnormal lung vasculature morphology ( J:119481 )

• mutants that die exhibit vascular abnormalities in the lung

respiratory system

abnormal lung vasculature morphology ( J:119481 )

• mutants that die exhibit vascular abnormalities in the lung

lung inflammation ( J:167773 )

• mutants treated with urethane exhibit chronic lung inflammation unlike control lungs

increased lung adenoma incidence ( J:167773 )

• mutants exhibit increased numbers of lung adenomas and larger tumor diameters 30 weeks after initial urethane injection compared to controls

neoplasm

increased incidence of tumors by chemical induction ( J:167773 )

• mutants exhibit increased numbers of lung tumors (adenomas) and larger tumor diameters 30 weeks after initial urethane injection compared to controls

• mutants exhibit increased lung tumorigenesis after MCA/BHT treatment

• tumors from mutants treated with urethane exhibit increased proliferation compared to tumors from controls

increased lung adenoma incidence ( J:167773 )

• mutants exhibit increased numbers of lung adenomas and larger tumor diameters 30 weeks after initial urethane injection compared to controls

immune system

lung inflammation ( J:167773 )

• mutants treated with urethane exhibit chronic lung inflammation unlike control lungs

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:167773 )

• mutants exhibit increased numbers of lung tumors (adenomas) and larger tumor diameters 30 weeks after initial urethane injection compared to controls

• mutants exhibit increased lung tumorigenesis after MCA/BHT treatment

• tumors from mutants treated with urethane exhibit increased proliferation compared to tumors from controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lung cancer		DOID:1324	OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210	J:167773

Genotype
MGI:7493911

cn119

• Allelic Composition: Chd7^{tm2a(EUCOMM)Wtsi}/Chd7^{tm2a(EUCOMM)Wtsi}; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * C57BL/6N * SJL

mortality/aging

preweaning lethality, incomplete penetrance ( J:225736 )

• number of live pups recorded at P10 is 5 versus expected 8 (based on Mendelian ratios)

cardiovascular system

cardiovascular system phenotype ( J:225736 )

N • no embryos exhibit hemorrhaging at E15.5

N • no double outlet right ventricle (DORV) or common arterial trunk (CAT) are observed at E15.5, suggesting normal arterial pole septation

N • no double inlet left ventricle (DILV) or venous valve defects are observed

N • coronary vein development is normal

interrupted aortic arch, type b ( J:225736 )

• at E15.5, 12.5% of embryos show interrupted aortic arch type B (IAA-B)

abnormal myocardium compact layer morphology ( J:225736 )

• at E15.5, 37.5% of embryos show myocardial non-compaction

atrial septal defect ( J:225736 )

• at E15.5, 12.5% of embryos show an atrial septal defect (ASD) only

atrioventricular septal defect ( J:225736 )

• at E15.5, 12.5% of embryos exhibit an atrioventricular septal defect (AVSD)

ventricular septal defect ( J:225736 )

• at E15.5, 25% of embryos show a ventricular septal defect (VSD) only

homeostasis/metabolism

edema ( J:225736 )

• at E15.5, 18% of embryos display severe edema

muscle

abnormal myocardium compact layer morphology ( J:225736 )

• at E15.5, 37.5% of embryos show myocardial non-compaction

Genotype
MGI:7640065

cn120

• Allelic Composition: Eogt^tm1.1Okaj/Eogt^tm1.1Okaj; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

cardiovascular system

abnormal retina vasculature morphology ( J:254752 )

• vessel branching is increased in P5 and P15 retinas

• however, length of alphaSMA+ vessels and vessel progression in P5 retinas is not altered

increased vascular permeability ( J:254752 )

• retinas show aberrant fibrinogen staining and sulfo-NHS-LC-biotin extravasation indicating reduced vessel integrity

vision/eye

abnormal retina vasculature morphology ( J:254752 )

• vessel branching is increased in P5 and P15 retinas

• however, length of alphaSMA+ vessels and vessel progression in P5 retinas is not altered

Genotype
MGI:5792712

cn121

• Allelic Composition: Snrk^tm2Rra/Snrk^tm2Rra; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

mortality/aging

mortality/aging ( J:218247 )

N

Genotype
MGI:6456933

cn122

• Allelic Composition: Chd3^tm1.1Cya/Chd3^tm1.1Cya; Chd4^tm1.1Kge/Chd4^tm1.1Kge; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

cardiovascular system

abnormal blood vessel morphology ( J:294633 )

• vascular rupture in E11.5 embryos

• normal vasculature in E10.5 embryos

hemorrhage ( J:294633 )

• in E11.5 embryos

mortality/aging

embryonic lethality, complete penetrance ( J:294633 )

• most embryos die between age E10.5-11.5

Genotype
MGI:6879489

cn123

• Allelic Composition: Foxc2^tm1.1Miu/Foxc2^tm1.1Miu; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:316530 )

• all mice die soon after birth; lethality is likely secondary to heart failure

cardiovascular system

cardiovascular system phenotype ( J:316530 )

N • embryos exhibit no detectable aortic arch or ventricular septum defects at E18.5; no aortic arch remodeling defect is seen at E13.5

pericardial effusion ( J:316530 )

• at E14.5

homeostasis/metabolism

pericardial effusion ( J:316530 )

• at E14.5

lymphedema ( J:316530 )

• at E14.5, embryos exhibit severe peripheral edema with fluid accumulation in the lymphatic system

immune system

abnormal lymphatic vessel morphology ( J:316530 )

• presence of peripheral edema at E14.5 suggests altered embryonic lymphatic vessel development

craniofacial

craniofacial phenotype ( J:316530 )

N • newborn pups exhibit no apparent craniofacial defects

skeleton

skeleton phenotype ( J:316530 )

N • newborn pups exhibit no apparent skeletal defects

Genotype
MGI:6456932

cn124

• Allelic Composition: Chd3^tm1.1Cya/Chd3^tm1.1Cya; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

cardiovascular system

cardiovascular system phenotype ( J:294633 )

N • normal embryonic vasculature

abnormal blood vessel morphology ( J:294633 )

• no obvious anomalies

mortality/aging

mortality/aging ( J:294633 )

N • viable; mice born at expected Mendelian ratio

Genotype
MGI:5792676

cn125

• Allelic Composition: Npr1^tm1.1Kkan/Npr1^tm1.1Kkan; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

Npr1^tm1.1Kkan/Npr1^tm1.1Kkan Tg(Tek-cre)1Ywa/0 mice injected with B16/F10 cells show increased number of plumonary and cardiac metastases

cardiovascular system

cardiac hypertrophy ( J:220676 )

• mice exhibit cardiac hypertrophy relative to Npr1^tm1.1Kkan homozygotes

increased systemic arterial blood pressure ( J:220676 )

• mice exhibit a significant increase in blood pressure relative to Npr1^tm1.1Kkan homozygotes

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:220676 )

• after injection of B16/F10 melanoma cells, mice exhibit a significant reduction in overall survival relative to similarly treated Npr1^tm1.1Kkan homozygotes

neoplasm

increased metastatic potential ( J:220676 )

• at 2 weeks after injection of B16/F10 melanoma cells, mice show a significantly higher number of pulmonary metastases (nodules) than Npr1^tm1.1Kkan homozygotes

• in addition, one-third of mice exhibit cardiac metastases, whereas no cardiac metastasis is found in Npr1^tm1.1Kkan homozygotes

growth/size/body

cardiac hypertrophy ( J:220676 )

• mice exhibit cardiac hypertrophy relative to Npr1^tm1.1Kkan homozygotes

Genotype
MGI:5426398

cn126

• Allelic Composition: Spns2^tm1.1Nmoc/Spns2^tm1.1Nmoc; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

immune system

decreased mature B cell number ( J:184558 )

• in the bone marrow

abnormal effector T cell morphology ( J:184558 )

• mice exhibit reduced mature T cells in the peripheral lymph nodes compared with wild-type mice

decreased CD4-positive, alpha-beta T cell number ( J:184558 )

• in the blood, peripheral lymph nodes and spleen

increased CD4-positive, alpha-beta T cell number ( J:184558 )

• in the thymus, but to a lesser extent than in Spns2^tm1.2Nmoc homozygotes

decreased CD8-positive, alpha-beta T cell number ( J:184558 )

• in the blood, peripheral lymph nodes and spleen

increased CD8-positive, alpha-beta T cell number ( J:184558 )

• in the thymus, but to a lesser extent than in Spns2^tm1.2Nmoc homozygotes

abnormal B cell physiology ( J:184558 )

• immature B cells exhibit impaired egression from the bone marrow compared to in wild-type mice

abnormal T cell physiology ( J:184558 )

• single positive T cells exhibit impaired egression from the thymus compared with wild-type cells

vision/eye

vision/eye phenotype ( J:184558 )

N • mice do not develop symblepharon

hematopoietic system

decreased mature B cell number ( J:184558 )

• in the bone marrow

abnormal effector T cell morphology ( J:184558 )

• mice exhibit reduced mature T cells in the peripheral lymph nodes compared with wild-type mice

decreased CD4-positive, alpha-beta T cell number ( J:184558 )

• in the blood, peripheral lymph nodes and spleen

increased CD4-positive, alpha-beta T cell number ( J:184558 )

• in the thymus, but to a lesser extent than in Spns2^tm1.2Nmoc homozygotes

decreased CD8-positive, alpha-beta T cell number ( J:184558 )

• in the blood, peripheral lymph nodes and spleen

increased CD8-positive, alpha-beta T cell number ( J:184558 )

• in the thymus, but to a lesser extent than in Spns2^tm1.2Nmoc homozygotes

abnormal B cell physiology ( J:184558 )

• immature B cells exhibit impaired egression from the bone marrow compared to in wild-type mice

abnormal T cell physiology ( J:184558 )

• single positive T cells exhibit impaired egression from the thymus compared with wild-type cells

Genotype
MGI:5527434

cn127

• Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-Etv2,-GFP)Hkata}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:203163 )

• most mice die around E11.5

cardiovascular system

abnormal vitelline vasculature morphology ( J:203163 )

• dilated at E10.5 to E11.5

• fragile blood vesels

hemorrhage ( J:203163 )

• bleeding in some mice at E10.5 to E11.5

hematopoietic system

abnormal definitive hematopoiesis ( J:203163 )

• abnormal hematopoiesis that biases the developmental program towards endothelial cells

embryo

abnormal vitelline vasculature morphology ( J:203163 )

• dilated at E10.5 to E11.5

• fragile blood vesels

Genotype
MGI:6195768

cn128

• Allelic Composition: Bcas3^tm1Msin/Bcas3^tm1Msin; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:262744 )

• fewer than expected mice are present at E9.5 and only 1 at E13.5 (no mice are present postnatally)

cardiovascular system

abnormal capillary morphology ( J:262744 )

• in head and heart vasculature

abnormal intersomitic vessel morphology ( J:262744 )

• discontinuous and improperly patterned

abnormal vascular development ( J:262744 )

• abnormal head and heart vasculature at E10.5 that is not as severe as in constitutive knock-outs

abnormal dorsal aorta morphology ( J:262744 )

• discontinuous and improperly patterned

abnormal vascular branching morphogenesis ( J:262744 )

• impaired branching in head and heart vasculature

decreased angiogenesis ( J:262744 )

• reduced sprouting in head and heart vasculature and of intersomitic vessels

abnormal endocardium morphology ( J:262744 )

• reduced development

small heart ( J:262744 )

• collapsed, small heart chambers

embryo

abnormal placenta morphology ( J:262744 )

• fetal vessels fail to invade into the developing placenta at E11.5

• however, fetal vessel invasion at E10.5 is normal

small placenta ( J:262744 )

• reduced thickness at E10.5 and E11.5

abnormal visceral yolk sac morphology ( J:262744 )

• reduced branching from major vessels in the yolk sac with vessel fusion and loss of branch hierarchy at E10.5 and E11.5

growth/size/body

abnormal head morphology ( J:262744 )

• at E10.5

Genotype
MGI:6509037

cn129

• Allelic Composition: Eps15^{tm1c(KOMP)Wtsi}/Eps15^{tm1c(KOMP)Wtsi}; Eps15l1^tm2.1Noff/Eps15l1^tm2.1Noff; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

hematopoietic system

abnormal erythropoiesis ( J:272122 )

• maturation of RBCs is impaired

extramedullary hematopoiesis ( J:272122 )

• Perls' Prussian blue staining suggests increased erythropoiesis in the spleen of adult mice

• however, no tissue iron overload is observed in the spleen or liver

anemia ( J:272122 )

• adult mice are anemic as revealed by a significant reduction in all parameters analyzed (RBC, MCV, hematocrit and hemoglobin)

hypochromic microcytic anemia ( J:272122 )

• adult mice suffer from microcytic hypochromic anemia due to a cell-autonomous defect in iron internalization; o-dianisidine staining confirmed that RBCs are hypochromic

decreased erythrocyte cell number ( J:272122 )

decreased hematocrit ( J:272122 )

decreased hemoglobin content ( J:272122 )

decreased mean corpuscular volume ( J:272122 )

anisopoikilocytosis ( J:272122 )

• May-Grunwald-Giemsa staining of blood smears revealed a great variation in the size and shape of RBCs

reticulocytosis ( J:272122 )

• mice exhibit twice as many reticulocytes (thiazole orange-positive cells) in the blood, suggesting that maturation of RBCs is impaired

homeostasis/metabolism

increased circulating iron level ( J:272122 )

• adult mice show increased serum iron levels, indicating that iron absorption is not impaired

• however, serum transferrin and ferritin levels are normal

cellular

abnormal endocytosis ( J:272122 )

• surface transferrin receptor (TfR) expression is retained in ~50% of mature RBCs (thiazole orange-negative cells), whereas it is virtually absent (as expected) in wild-type controls

• a significantly higher fraction of thiazole orange-positive cells retain TfR surface expression relative to wild-type controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypochromic microcytic anemia		DOID:0050642	OMIM:206100 OMIM:615234	J:272122

Genotype
MGI:7447126

cn130

• Allelic Composition: Hacd2^{tm1b(EUCOMM)Hmgu}/Hacd2^{tm1c(EUCOMM)Hmgu}; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

normal phenotype

no abnormal phenotype detected ( J:333944 )

• all mice are viable and overtly normal and reach adulthood in healthy conditions; moreover, E10.5 embryos show normal yolk sac vascularization and cardiovascular development

Genotype
MGI:6509036

cn131

• Allelic Composition: Eps15^{tm1c(KOMP)Wtsi}/Eps15^{tm1c(KOMP)Wtsi}; Eps15l1^tm1.1Noff/Eps15l1^tm1.1Noff; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

hematopoietic system

decreased mean corpuscular volume ( J:272122 )

• newborn mice show a significant reduction of MCV in peripheral blood

increased red blood cell distribution width ( J:272122 )

• newborn mice show a significant increase in RBC distribution width

anisocytosis ( J:272122 )

• May-Grunwald-Giemsa staining of blood smears from newborn mice indicates presence of anisotropic RBCs

reticulocytosis ( J:272122 )

• May-Grunwald-Giemsa staining revealed a significant increase in reticulocyte number

cardiovascular system

abnormal vascular development ( J:272122 )

• mice exhibit only a mild vascular defect

Genotype
MGI:5796350

cn132

• Allelic Composition: Commd9^{tm1c(KOMP)Wtsi}/Commd9^{tm1c(KOMP)Wtsi}; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL
• Cell Lines: EPD0136_6_D10

mortality/aging

mortality/aging ( J:230747 )

N • all mice are viable at birth

Genotype
MGI:5470091

cn133

• Allelic Composition: Pfn1^tm1Foxp/Pfn1^tm1Foxp; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * C57BL/6NTac * SJL

cellular

abnormal vascular endothelial cell migration ( J:193938 )

• endothelial cell planar migration stimulated by VEGF-A is inhibited compared with control cells

cardiovascular system

decreased angiogenesis ( J:193938 )

• angiogenesis after ischemia or skin punch is impaired

• however, mice exhibit normal developmental angiogenesis

abnormal vascular endothelial cell migration ( J:193938 )

• endothelial cell planar migration stimulated by VEGF-A is inhibited compared with control cells

abnormal vascular wound healing ( J:193938 )

• after skin punch, mice exhibit fewer microvessels within the healing wound and larger blood vessels in the region surrounding the injury compared with control mice

homeostasis/metabolism

abnormal vascular wound healing ( J:193938 )

• after skin punch, mice exhibit fewer microvessels within the healing wound and larger blood vessels in the region surrounding the injury compared with control mice

delayed wound healing ( J:193938 )

• after skin punch

Genotype
MGI:6195746

cn134

• Allelic Composition: Gt(ROSA)26Sor^{tm18(Zeb2)Jhai}/Gt(ROSA)26Sor^{tm18(Zeb2)Jhai}; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * CD-1 * SJL

mortality/aging

premature death ( J:263520 )

• mice start to die from 5 months of age onwards, with 53% of mice dying by 15 months

neoplasm

increased thymus tumor incidence ( J:263520 )

• mice develop thymus tumors from 5 months of age

increased T cell acute lymphoblastic leukemia incidence ( J:263520 )

• mice exhibit precursor T-cell lymphoblastic leukemia (CD45/CLA+; CD3+; CD45/B220- and IBA-1- with presence of cKit+ cells)

• the pre T-cell lymphoblastic leukemia likely originates from the thymus with sheets of medium to large-size lymphoid cells infiltrating into surrounding tissues, including lung, heart, and cranial mediastinum and systematically into lymph nodes, liver, spleen, kidney and bone marrow

endocrine/exocrine glands

increased thymus tumor incidence ( J:263520 )

• mice develop thymus tumors from 5 months of age

immune system

increased thymus tumor incidence ( J:263520 )

• mice develop thymus tumors from 5 months of age

hematopoietic system

increased thymus tumor incidence ( J:263520 )

• mice develop thymus tumors from 5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
T-cell adult acute lymphocytic leukemia		DOID:5602		J:263520

Genotype
MGI:5828598

cn135

• Allelic Composition: Tg(CAG-cat,-Ptpn11*Q510E)#Krnz/0; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * FVB/N * SJL

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:237450 )

• all embryos die by E14.5

cardiovascular system

abnormal atrioventricular cushion morphology ( J:237450 )

• endocardial cushion volumes are increased by 81% in E13.5 embryos

abnormal atrioventricular valve morphology ( J:237450 )

• septal leaflets of the atrioventricular valves are thicker in E13.5 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome with multiple lentigines		DOID:14291	OMIM:PS151100	J:237450

Genotype
MGI:5806300

cn136

• Allelic Composition: Mfsd2a^{tm1c(KOMP)Wtsi}/Mfsd2a^{tm1c(KOMP)Wtsi}; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: EPD0853_5_E03

vision/eye

microphthalmia ( J:234197 )

• at 4 months of age, mice exhibit slightly smaller eyeballs than control mice

• however, retina layers and photoreceptor outer segment length are normal

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:234197 )

N • at 7 weeks of age, lipidomics analysis of whole eyes revealed that total levels of docosahexaenoic acid (DHA) and arachidonic acid in eye phospholipids are comparable to those in control mice

Genotype
MGI:6360907

cn137

• Allelic Composition: Vgll4^{tm1b(EUCOMM)Hmgu}/Vgll4^{tm1c(EUCOMM)Hmgu}; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6N * CBA * SJL

cardiovascular system

cardiovascular system phenotype ( J:273437 )

N • neonatal mice exhibit normal capillary vessel distribution and endocardium

increased myocardial fiber size ( J:273437 )

• increased cross sectional area

abnormal heart development ( J:273437 )

• prolonged cell proliferation and reduced apoptosis of endothelial-derived valvar interstitial cells

increased heart weight ( J:273437 )

• relative to body weight

cardiac hypertrophy ( J:273437 )

• severe at 36 weeks of age

thick aortic valve cusps ( J:273437 )

• at P0 and in adult mice

thick pulmonary valve cusps ( J:273437 )

• at P0 and in adult mice

increased heart left ventricle weight ( J:273437 )

cardiac fibrosis ( J:273437 )

decreased cardiac muscle contractility ( J:273437 )

• decreased ejection fraction and fractional shortening

cellular

decreased apoptosis ( J:273437 )

• reduced apoptosis of endothelial-derived valvar interstitial cells

increased cell proliferation ( J:273437 )

• prolonged cell proliferation of endothelial-derived valvar interstitial cells

muscle

increased myocardial fiber size ( J:273437 )

• increased cross sectional area

decreased cardiac muscle contractility ( J:273437 )

• decreased ejection fraction and fractional shortening

growth/size/body

increased heart weight ( J:273437 )

• relative to body weight

cardiac hypertrophy ( J:273437 )

• severe at 36 weeks of age

Genotype
MGI:6416300

cn138

• Allelic Composition: Anxa3^{tm1c(EUCOMM)Hmgu}/Anxa3^{tm1c(EUCOMM)Hmgu}; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6N * SJL

cardiovascular system

abnormal retina blood vessel morphology ( J:287184 )

• retinas with multiple artery-vein crossovers often display bifurcated veins

• retinal vein diameters, but not artery diameters, are slightly increased

• however, mice show no morphological defects in the developing vasculature at E9.5 and no angiogenic defects are seen in P7 retinas

abnormal retina blood vessel pattern ( J:287184 )

• 62.5% of mice exhibit artery-vein alignment defects in P7 retinas, with retinas displaying atypical artery-vein crossovers instead of running parallel to each other, and a few retinas having multiple artery-vein crossovers

• retinal artery-vein crossovers persist into adulthood with 58% of retinas showing crossovers in 4- to 9-month old mice

• artery-vein misalignments happen in all areas of the retina, including both proximal and distal to the optic nerve

• however, blood vessels associated with artery-vein crossovers show no occlusion

vision/eye

abnormal retina blood vessel morphology ( J:287184 )

• retinas with multiple artery-vein crossovers often display bifurcated veins

• retinal vein diameters, but not artery diameters, are slightly increased

• however, mice show no morphological defects in the developing vasculature at E9.5 and no angiogenic defects are seen in P7 retinas

abnormal retina blood vessel pattern ( J:287184 )

• 62.5% of mice exhibit artery-vein alignment defects in P7 retinas, with retinas displaying atypical artery-vein crossovers instead of running parallel to each other, and a few retinas having multiple artery-vein crossovers

• retinal artery-vein crossovers persist into adulthood with 58% of retinas showing crossovers in 4- to 9-month old mice

• artery-vein misalignments happen in all areas of the retina, including both proximal and distal to the optic nerve

• however, blood vessels associated with artery-vein crossovers show no occlusion

Genotype
MGI:5444490

cn139

• Allelic Composition: Irx3^tm3Hui/Irx3^tm3Hui; Irx5^tm3Hui/Irx5^tm3Hui; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

abnormal cardiac outflow tract development ( J:189007 )

• phenocopies abnormalities seen in germ line double null mice

double outlet right ventricle ( J:189007 )

atrial septal defect ( J:189007 )

• appears to be due to a defect in the fusion between the atrioventricular endocardial cushions and the dorsal mesenchymal protrusion

atrioventricular septal defect ( J:189007 )

• atrioventricular canal defect

Genotype
MGI:7442264

cn140

• Allelic Composition: Adgrg6^em3Jlp/Adgrg6^em3Jlp; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:315981 )

• embryos are viable throughout embryogenesis with no resorptions noted from E11.5 to E18.5 and no cardiac defects detected at E15.5

• adult mice show normal electrocardiogram values and left ventricular function with no significant differences in heart size (heart weight-to-tibia length ratio) or in cardiac histology relative to control mice

Genotype
MGI:5897606

cn141

• Allelic Composition: Ddah1^tm1Geno/Ddah1^tm1Geno; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

cardiovascular system phenotype ( J:234529 )

♂N • myography of aortic segments revealed normal vascular reactivity, with no differences in phenylephrine-induced contraction, endothelium-dependent relaxation by acetylcholine, and endothelium-independent relaxation by sodium nitroprusside relative to controls

♂N • male mice show no differences in systolic, diastolic or mean blood pressure relative to controls

abnormal physiological neovascularization ( J:234529 )

♂ • following ligation of the femoral artery, CD31-stained abductor muscles exhibit reduced capillary density (neovascularization) in mutant ischemic limbs relative to controls

decreased angiogenesis ( J:234529 )

♂ • in vitro, mutant aortic rings cultured in Matrigel form significantly fewer vessel sprouts and fewer branches per sprout than control rings; treatment of mutant aortic rings with the NOS substrate l-arginine restores the number of vessel sprouts to control levels, whereas d-arginine has no effect on vessel growth

♂ • in vivo, new vessel growth is reduced in a Matrigel plug assay, as determined by the presence of dextran staining in excised plugs

♂ • in a physiological setting, capillary density in adipose tissue is reduced both basally (on a normal diet) and after high-fat diet-induced adipose expansion

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:234529 )

♂N • at 10-12 weeks of age, male mice show normal plasma levels of asymmetrical dimethylarginine (ADMA), l-arginine, homoarginine, and symmetrical dimethylarginine levels relative to controls

♂N • following overnight culture in Krebs buffer, mutant aortas show normal ADMA and symmetrical dimethylarginine release relative to control aortas

Genotype
MGI:3838812

cn142

• Allelic Composition: Ccm2^tm1Kwhi/Ccm2^tm1.1Kwhi; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:146527 )

• mice die between E9-E10 from failed angiogenesis

embryo

abnormal pharyngeal arch morphology ( J:146527 )

abnormal first pharyngeal arch artery morphology ( J:146527 )

• the first branchial arch artery of E8.5 embryos fail to form a proper lumen

abnormal second pharyngeal arch artery morphology ( J:146527 )

• the second branchial arch artery of E8.5 embryos fail to form a proper lumen

abnormal third pharyngeal arch artery morphology ( J:146527 )

• the third branchial arch artery of E8.5 embryos fail to form a proper lumen

cardiovascular system

abnormal cardiovascular system morphology ( J:146527 )

dilated dorsal aorta ( J:146527 )

• the caudal portion of the dorsal aorta becomes enlarged in 8.5 embryos

abnormal first pharyngeal arch artery morphology ( J:146527 )

• the first branchial arch artery of E8.5 embryos fail to form a proper lumen

abnormal second pharyngeal arch artery morphology ( J:146527 )

• the second branchial arch artery of E8.5 embryos fail to form a proper lumen

abnormal third pharyngeal arch artery morphology ( J:146527 )

• the third branchial arch artery of E8.5 embryos fail to form a proper lumen

aorta stenosis ( J:146527 )

• adjacent portions of the aorta are also narrow and irregular

decreased angiogenesis ( J:146527 )

• the branchial arch arteries, the first essential angiogenic vessels, fail to form a stable lumen in E8.5 embryos

• the heart is not functionally connected with the vasculature, and circulation fails to initiate

poor circulation ( J:146527 )

• circulation is not established in E8.5 embryos

craniofacial

abnormal pharyngeal arch morphology ( J:146527 )

abnormal first pharyngeal arch artery morphology ( J:146527 )

• the first branchial arch artery of E8.5 embryos fail to form a proper lumen

abnormal second pharyngeal arch artery morphology ( J:146527 )

• the second branchial arch artery of E8.5 embryos fail to form a proper lumen

abnormal third pharyngeal arch artery morphology ( J:146527 )

• the third branchial arch artery of E8.5 embryos fail to form a proper lumen

Genotype
MGI:5052129

cn143

• Allelic Composition: Sart3^tm1.1Hbro/Sart3⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

hematopoietic system

abnormal definitive hematopoiesis ( J:173259 )

• hematopoietic progenitor cells (HPCs) in the bone marrow and spleen are slowly or noncycling compared to in wild-type mice

• HPCs from 5-FU-treated mice are more protected than HPCs from wild-type mice

abnormal common myeloid progenitor cell morphology ( J:173259 )

• mice exhibit decreased colony forming units granulocyte, erythrocyte, macrophage, and megakaryocyte (CFU-GEMM) and granulocyte-macrophage (CFU-GM) compared with wild-type mice

• 5-FU-treated mice fail to exhibit a decrease in CFU-GM numbers by day 7 unlike similarly treated wild-type mice

• 5-FU-treated mice exhibit a 14.1-fold increase in CFU-GM at day 11 compared with a 5-fold elevation in similarly treated mice

• 5-FU-treated mice exhibit restored CFU-GEMM numbers after 11 days unlike similarly treated wild-type mice

decreased erythroid progenitor cell number ( J:173259 )

• mice exhibit decreased blast forming units erythrocyte (BFU-E) compared with wild-type mice

• 5-FU-treated mice exhibit a 1.9-fold increase in BFU-E unlike similarly treated wild-type mice

decreased hematopoietic stem cell number ( J:173259 )

• 5-FU-treated mice exhibit a decrease in long and short term repopulating hematopoietic stem cells compared with similarly treated wild-type mice

Genotype
MGI:5052326

cn144

• Allelic Composition: Pdcd10^tm1Kwhi/Pdcd10^tm1Kwhi; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:173947 )

• death due to venous rupture by E13.5

cardiovascular system

cardiovascular system phenotype ( J:173947 )

N • open branchial arch arteries and developed circulatory system at E9.5

abnormal cardinal vein morphology ( J:173947 )

• progressive enlargement of the cardinal vein until E11.5

• death due to venous rupture by E13.5

Genotype
MGI:5085318

cn145

• Allelic Composition: Ccm2^tm2.1Sbn/Ccm2^tm2.1Sbn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

abnormal artery development ( J:174085 )

• expression analysis suggests that arteriogenesis is deficient

abnormal dorsal aorta morphology ( J:174085 )

• at E9.5 no smooth muscle cells are detected around the dorsal aorta and no proper lumen is formed

abnormal developmental vascular remodeling ( J:174085 )

• while the head and vitelline vascular plexi form they are not remodeled

abnormal vascular branching morphogenesis ( J:174085 )

• the dorsal aorta and posterior cardinal veins fuse with relatively little branching unlike in controls

abnormal vascular smooth muscle morphology ( J:174085 )

• at E9.5 no smooth muscle cells are detected around the dorsal aorta

abnormal heart development ( J:174085 )

• failure of endocardium expansion

• no or significantly deficient ventricular trabeculation

failure of heart looping ( J:174085 )

• incomplete looping

embryo

embryonic growth retardation ( J:174085 )

• less severe than in homozygous null mice

abnormal vitelline vascular remodeling ( J:174085 )

• failure of remodeling

growth/size/body

embryonic growth retardation ( J:174085 )

• less severe than in homozygous null mice

muscle

abnormal vascular smooth muscle morphology ( J:174085 )

• at E9.5 no smooth muscle cells are detected around the dorsal aorta

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	cerebral cavernous malformation 2	DOID:0060670	OMIM:603284	J:174085

Genotype
MGI:5555041

cn146

• Allelic Composition: Lama5^tm1Lsor/Lama5^tm1Lsor; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

immune system

decreased transitional stage T2 B cell number ( J:198783 )

decreased marginal zone B cell number ( J:198783 )

• CD23^low/CD21^high

increased B cell number ( J:198783 )

• CD23^low/CD21^low newly formed B cells

increased transitional stage T1 B cell number ( J:198783 )

increased IgM level ( J:198783 )

• after NP-Ficoll immunization

abnormal marginal zone B cell physiology ( J:198783 )

• increased apoptosis

hematopoietic system

decreased transitional stage T2 B cell number ( J:198783 )

decreased marginal zone B cell number ( J:198783 )

• CD23^low/CD21^high

increased B cell number ( J:198783 )

• CD23^low/CD21^low newly formed B cells

increased transitional stage T1 B cell number ( J:198783 )

increased IgM level ( J:198783 )

• after NP-Ficoll immunization

abnormal marginal zone B cell physiology ( J:198783 )

• increased apoptosis

Genotype
MGI:5312098

cn147

• Allelic Composition: Tnfrsf21^tm2Gne/Tnfrsf21^tm2Gne; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

abnormal brain vasculature morphology ( J:181470 )

• embryonic hindbrain radial vessel density is significantly reduced

intracranial hemorrhage ( J:181470 )

• forebrain specific hemorrhages during development

nervous system

abnormal brain vasculature morphology ( J:181470 )

• embryonic hindbrain radial vessel density is significantly reduced

intracranial hemorrhage ( J:181470 )

• forebrain specific hemorrhages during development

Genotype
MGI:7442268

cn148

• Allelic Composition: Adgrg6^em2Jlp/Adgrg6^em3Jlp; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:315981 )

• mice exhibit no evidence of embryonic lethality; no cardiac defects are detected at E16.5

Genotype
MGI:6507173

cn149

• Allelic Composition: Phf6^tm1.1Avo/Y; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

neoplasm

increased leukemia incidence ( J:276228 )

♂ • mice show a modestly accelerated onset of spontaneous hematopoietic malignancy

hematopoietic system

abnormal T cell differentiation ( J:276228 )

♂ • mice show perturbation in early T-cell differentiation

♂ • percentages of double-negative precursor stage 3 (DN3) cells are reduced but their total numbers are not significantly reduced

decreased DN2 thymocyte number ( J:276228 )

♂ • mice have only 58% double-negative precursor stage 2 (DN2) cells compared with controls

♂ • however, the numbers and percentages of downstream populations are not altered in the thymus

increased plasmacytoid dendritic cell number ( J:276228 )

♂ • numbers of plasmacytoid dendritic cells are increased in the bone marrow

abnormal hematopoietic precursor cell morphology ( J:276228 )

♂ • within the HPC-1 population, the percentage of FLT3^hi cells is increased, suggesting an increase in lymphoid-based cells

increased common lymphocyte progenitor cell number ( J:276228 )

♂ • 85% increase in the numbers of common lymphoid progenitor cells

decreased hematopoietic stem cell number ( J:276228 )

♂ • analysis of LSK subsets shows a reduced number of hematopoietic stem cells (HSC)

increased hematopoietic stem cell number ( J:276228 )

♂ • the number of cells within the LSK stem and progenitor cell-enriched population is increased by 27% in the bone marrow

♂ • however, no difference in bone marrow cellularity is seen

increased hematopoietic precursor cell number ( J:276228 )

♂ • analysis of LSK subsets shows an increase in the heterogenous progenitor cell population HPC-1

♂ • however, the numbers of multipotent progenitor cells and HPC-2 populations are not different

abnormal hematopoietic system physiology ( J:276228 )

♂ • bone marrow cells from mutant mice repopulate the hematopoietic system of hosts more efficiently and retain stem cell capacity through serial transplantations

♂ • enhanced hematopoietic reconstitution is due to increased production of differentiated progeny; HSCs show enhanced contribution to peripheral blood posttransplant and multipotent progenitor cells show enhanced contribution to peripheral leukocytes

♂ • HSCs grown in culture show reduced proportion of self-renewing symmetric divisions and a trend toward higher proportion of differentiating divisions

♂ • a reduced proportion of blast colonies and an increased proportion of differentiated colonies are produced from mutant bone marrow in vitro

increased hematopoietic stem cell proliferation ( J:276228 )

♂ • increase in the percentages of Ki67+ cycling cells within the HSC, HPC-1 and overall LSK populations and higher percentages of these cells incorporate BrdU

♂ • however, no changes in cell death are seen in hematopoietic stem cells or progenitor populations

homeostasis/metabolism

increased circulating interferon-alpha level ( J:276228 )

♂ • modest increase in IFN-alpha levels in the plasma

♂ • however, no differences in IFN-gamma or other cytokine levels are seen

immune system

abnormal T cell differentiation ( J:276228 )

♂ • mice show perturbation in early T-cell differentiation

♂ • percentages of double-negative precursor stage 3 (DN3) cells are reduced but their total numbers are not significantly reduced

decreased DN2 thymocyte number ( J:276228 )

♂ • mice have only 58% double-negative precursor stage 2 (DN2) cells compared with controls

♂ • however, the numbers and percentages of downstream populations are not altered in the thymus

increased plasmacytoid dendritic cell number ( J:276228 )

♂ • numbers of plasmacytoid dendritic cells are increased in the bone marrow

increased circulating interferon-alpha level ( J:276228 )

♂ • modest increase in IFN-alpha levels in the plasma

♂ • however, no differences in IFN-gamma or other cytokine levels are seen

endocrine/exocrine glands

decreased DN2 thymocyte number ( J:276228 )

♂ • mice have only 58% double-negative precursor stage 2 (DN2) cells compared with controls

♂ • however, the numbers and percentages of downstream populations are not altered in the thymus

cellular

increased hematopoietic stem cell proliferation ( J:276228 )

♂ • increase in the percentages of Ki67+ cycling cells within the HSC, HPC-1 and overall LSK populations and higher percentages of these cells incorporate BrdU

♂ • however, no changes in cell death are seen in hematopoietic stem cells or progenitor populations

Genotype
MGI:5495315

cn150

• Allelic Composition: Gt(ROSA)26Sor^{tm4(EWSR1/ATF1)Mrc}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/?
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

embryonic lethality, complete penetrance ( J:194308 )

Genotype
MGI:5487451

cn151

• Allelic Composition: Hprt1^{tm1(H1-RNAi:Tmsb4x)Prri}/Hprt1⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:195902 )

♀ • fewer than expected mice are recovered between E10.5 and P1

embryonic lethality during organogenesis, incomplete penetrance ( J:195902 )

♀ • fewer than expected mice are recovered between E10.5 and P1

cardiovascular system

abnormal blood vessel morphology ( J:195902 )

♀ • blood vessel walls exhibit reduced recruitment of mural cells compared to in control mice

internal hemorrhage ( J:195902 )

♀ • in the coelomic cavity in some mice at E10.5

hemopericardium ( J:195902 )

♀ • in some mice at E10.5

intracranial hemorrhage ( J:195902 )

♀ • in some mice at E10.5

homeostasis/metabolism

hemopericardium ( J:195902 )

♀ • in some mice at E10.5

nervous system

intracranial hemorrhage ( J:195902 )

♀ • in some mice at E10.5

Genotype
MGI:5484864

cn152

• Allelic Composition: Plekhg5^tm1Jbar/Plekhg5^tm1Jbar; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

abnormal blood vessel morphology ( J:195233 )

• sparser than in wild-type mice

abnormal vascular endothelial cell morphology ( J:195233 )

• mice exhibit defective endothelial cell junctions compared with wild-type mice

abnormal heart left ventricle morphology ( J:195233 )

• mice exhibit defective endothelial cell junctions compared with wild-type mice

decreased heart ventricle muscle contractility ( J:195233 )

• after partial aortic occlusion, mice exhibit decreased ejection fraction and twice as high ventricle passive stiffness compared with wild-type mice

increased vascular permeability ( J:195233 )

• leaky blood vessels with higher extravasation of fluorescent beads

homeostasis/metabolism

edema ( J:195233 )

impaired skin barrier function ( J:195233 )

• in untreated mice (3-fold) or mice treated with Ang1 (9-fold)

• however, treatment with VEGF does not exacerbate impaired skin barrier function

integument

impaired skin barrier function ( J:195233 )

• in untreated mice (3-fold) or mice treated with Ang1 (9-fold)

• however, treatment with VEGF does not exacerbate impaired skin barrier function

muscle

decreased heart ventricle muscle contractility ( J:195233 )

• after partial aortic occlusion, mice exhibit decreased ejection fraction and twice as high ventricle passive stiffness compared with wild-type mice

Genotype
MGI:6449118

cn153

• Allelic Composition: Prkaa2^tm1.1Sjm/Prkaa2^tm1.1Sjm; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

cardiovascular system

pulmonary hypertension ( J:286356 )

• mice subjected to SU5416/hypoxia-reoxygenation show aggravated pulmonary hypertension compared to wild-type mice, characterized by elevated right ventricular systolic pressure, increased Fulton index, and aggravated vasculature

• treatment with metformin does not alleviate the induced pulmonary hypertension as in wild-type mice

Genotype
MGI:5474868

cn154

• Allelic Composition: Etv2^tm1Vkou/Etv2^tm1Vkou; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:194572 )

• mice are viable, grossly normal and fertile

Genotype
MGI:6423604

cn155

• Allelic Composition: Lmna^tm1Bliu/Lmna^tm1Bliu; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

premature death ( J:287256 )

• shorter median life span of 24 weeks

• mice treated with IS70, a recombinant AAV serotype 1 cassette with Sirt7 gene expression driven by a synthetic ICAM2 promoter show an expansion of median life span by 76%, from 25 to more than 44 weeks

premature aging ( J:287256 )

• mice show accelerated aging in various tissues/organs

• mice treated with IS70 ameliorates aging features

growth/size/body

weight loss ( J:287256 )

• mice exhibit weight loss

• mice treated with IS70 show a slight rescue in body weight loss

behavior/neurological

impaired exercise endurance ( J:287256 )

• running endurance is compromised

cardiovascular system

abnormal artery morphology ( J:287256 )

• severe fibrosis in the arteries

increased aorta wall thickness ( J:287256 )

• intima-media thickening

atherosclerotic lesions ( J:287256 )

• atherosclerosis is prominent, with aorta atheromatous plaque seen in all mice examined

decreased vascular endothelial cell number ( J:287256 )

• loss of CD31+ endothelial cells

decreased capillary density ( J:287256 )

abnormal physiological neovascularization ( J:287256 )

• limb perfusion after ischemia is blunted; defect in blood flow recovery is due to an impaired ability to form new blood vessels in the ischemic region indicating defective neovascularization

cardiac fibrosis ( J:287256 )

• severe fibrosis in the heart

dilated cardiomyopathy ( J:287256 )

• heart/body weight ratio is increased, indicating dilated cardiomyopathy

decreased cardiac output ( J:287256 )

• cardiac output is reduced in 7-8 month old mice

decreased heart left ventricle muscle contractility ( J:287256 )

• left ventricular ejection fraction and fractional shortening are reduced in 7-8 month old mice

decreased heart rate ( J:287256 )

• heart rate is reduced in 7-8 month old mice

abnormal vasodilation ( J:287256 )

• acetylcholine-induced thoracic aorta relaxation is compromised

homeostasis/metabolism

impaired exercise endurance ( J:287256 )

• running endurance is compromised

muscle

dilated cardiomyopathy ( J:287256 )

• heart/body weight ratio is increased, indicating dilated cardiomyopathy

decreased heart left ventricle muscle contractility ( J:287256 )

• left ventricular ejection fraction and fractional shortening are reduced in 7-8 month old mice

abnormal vasodilation ( J:287256 )

• acetylcholine-induced thoracic aorta relaxation is compromised

skeleton

decreased trabecular bone volume ( J:287256 )

• decrease in trabecular bone volume/tissue volume

decreased bone trabecula number ( J:287256 )

increased bone trabecular spacing ( J:287256 )

• increase in trabecular separation

decreased trabecular bone thickness ( J:287256 )

osteoporosis ( J:287256 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
progeria		DOID:3911	OMIM:176670	J:287256

Genotype
MGI:5432907

cn156

• Allelic Composition: Tmem100^tm1.1Ysai/Tmem100^tm2.1Ysai; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: C57BL/6 * SJL

Impaired angiogenesis in Tmem100^tm1.1Ysai/Tmem100^tm2.1Ysai Tg(Tek-cre)1Ywa/0 embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:186473 )

• around E11.0

cardiovascular system

abnormal blood vessel morphology ( J:186473 )

• vascular defects are very similar to those in germline null mice

abnormal dorsal aorta morphology ( J:186473 )

• highly dilated or narrow

poor arterial differentiation ( J:186473 )

• expression analysis indicates defects in arterial differentiation

abnormal vitelline vasculature morphology ( J:186473 )

• absence of major vessels at E10.5

abnormal trabecula carnea morphology ( J:186473 )

• poorly formed

pericardial effusion ( J:186473 )

• at E10.5

embryo

abnormal vitelline vasculature morphology ( J:186473 )

• absence of major vessels at E10.5

embryonic growth retardation ( J:186473 )

• at E10.5

abnormal visceral yolk sac morphology ( J:186473 )

• detachment of endodermal and mesodermal layers

growth/size/body

embryonic growth retardation ( J:186473 )

• at E10.5

homeostasis/metabolism

pericardial effusion ( J:186473 )

• at E10.5

muscle

abnormal trabecula carnea morphology ( J:186473 )

• poorly formed

Genotype
MGI:3054867

cn157

• Allelic Composition: F11r^tm1Dej/F11r^tm1.1Dej; Tg(Tek-cre)1Ywa/0
• Genetic Background: Not Specified

immune system

immune system phenotype ( J:92592 )

N • dendritic cell migratory ability is not different from control

Genotype
MGI:6415042

tg158

• Allelic Composition: Tg(Tek-cre)1Ywa/Tg(Tek-cre)1Ywa
• Genetic Background: involves: C57BL/6 * SJL

hearing/vestibular/ear

abnormal cochlear hair cell development ( J:242313 )

• abnormal immature cochlear hair cells

abnormal cochlear inner hair cell morphology ( J:242313 )

• along the entire length of the organ of Corti spiral

abnormal inner hair cell stereociliary bundle morphology ( J:242313 )

• rounded hair cell bundles and the apical surface is more rounded

• smaller ratio of the greatest width of the hair cell surface in the longitudinal direction along the organ of Corti versus the width of that surface in the radial (lateral-medial direction)

• increased stereocilia number

• elongated, fused stereocilia in older mice

abnormal cochlear outer hair cell morphology ( J:242313 )

• along the entire length of the organ of Corti spiral, except less severe at the apex

• slightly smaller surface apical area

abnormal outer hair cell stereociliary bundle morphology ( J:242313 )

• unusual and ill-defined shapes, asymmetric with bare areas

• stereocilia arranged in increasing height

short outer hair cell stereocilia ( J:242313 )

• at the outer edge

decreased outer hair cell stereocilia number ( J:242313 )

• greater reduction at the basal coil

abnormal utricular macula morphology ( J:242313 )

• kinocilium never became re-located to an eccentric position

• increased length of stereocilia in older mice with fusion to the kinocilium

• however, mice exhibit normal numbers of stereocilia in macular hair bundles

deafness ( J:242313 )

growth/size/body

decreased body weight ( J:242313 )

nervous system

abnormal cochlear hair cell development ( J:242313 )

• abnormal immature cochlear hair cells

abnormal cochlear inner hair cell morphology ( J:242313 )

• along the entire length of the organ of Corti spiral

abnormal inner hair cell stereociliary bundle morphology ( J:242313 )

• rounded hair cell bundles and the apical surface is more rounded

• smaller ratio of the greatest width of the hair cell surface in the longitudinal direction along the organ of Corti versus the width of that surface in the radial (lateral-medial direction)

• increased stereocilia number

• elongated, fused stereocilia in older mice

abnormal cochlear outer hair cell morphology ( J:242313 )

• along the entire length of the organ of Corti spiral, except less severe at the apex

• slightly smaller surface apical area

abnormal outer hair cell stereociliary bundle morphology ( J:242313 )

• unusual and ill-defined shapes, asymmetric with bare areas

• stereocilia arranged in increasing height

short outer hair cell stereocilia ( J:242313 )

• at the outer edge

decreased outer hair cell stereocilia number ( J:242313 )

• greater reduction at the basal coil