Phenotypes associated with this allele

• Allele Symbol: Edil3^{Tg(Sox2-cre)1Amc}
• Allele Name: transgene insertion 1, Andrew P McMahon
• Allele ID: MGI:2656539
• Summary: 121 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cul4b^tm1Swl/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	B6.Cg-Edil3^Tg(Sox2-cre)1Amc Cul4b^tm1Swl	MGI:5438241
cn2	Prkag2^tm1.1Geno/Prkag2^tm1.1Geno Edil3^Tg(Sox2-cre)1Amc/Edil3^+	B6.Cg-Prkag2^tm1.1Geno Edil3^Tg(Sox2-cre)1Amc	MGI:6116214
cn3	Abcb7^tm1Mdf/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	either: B6.Cg-Edil3^Tg(Sox2-cre)1Amc Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)	MGI:3629061
cn4	Abcb7^tm1Mdf/Abcb7^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	either: B6.Cg-Edil3^Tg(Sox2-cre)1Amc Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)	MGI:3629062
cn5	Kdm6a^tm1c(EUCOMM)Wtsi/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	either: (involves: C57BL/6 * CBA * CD-1) or (involves: 129 * C57BL/6 * CBA * CD-1)	MGI:5516067
cn6	Kdm6a^tm1c(EUCOMM)Wtsi/Kdm6a^tm1c(EUCOMM)Wtsi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	either: (involves: C57BL/6 * CBA * CD-1) or (involves: 129 * C57BL/6 * CBA * CD-1)	MGI:5516066
cn7	Cul4b^tm1.1Pz/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129 * C57BL/6 * C57BL/6J * CBA	MGI:5502172
cn8	Cul4b^tm1.1Pz/Cul4b^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129 * C57BL/6 * C57BL/6J * CBA	MGI:5502173
cn9	Fnip1^m1Btlr/Fnip1^m1Btlr Prkag2^tm1.1Geno/Prkag2^tm1.1Geno Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129 * C57BL/6 * C57BL/6J * CBA	MGI:6116217
cn10	Dicer1^tm1Bdh/Dicer1^tm1Bdh Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129 * C57BL/6 * CBA	MGI:6156399
cn11	Igs1^tm2(CAG-Bgeo,-Ndp,-EGFP)Nat/Igs1^tm2(CAG-Bgeo,-Ndp,-EGFP)Nat Edil3^Tg(Sox2-cre)1Amc/?	involves: 129 * C57BL/6 * CBA	MGI:4412194
cn12	Fzd4^tm1Nat/Fzd4^+ Igs1^tm2(CAG-Bgeo,-Ndp,-EGFP)Nat/Igs1^tm2(CAG-Bgeo,-Ndp,-EGFP)Nat Edil3^Tg(Sox2-cre)1Amc/?	involves: 129 * C57BL/6 * CBA	MGI:4412195
cn13	Fzd4^tm1Nat/Fzd4^tm1Nat Igs1^tm2(CAG-Bgeo,-Ndp,-EGFP)Nat/Igs1^tm2(CAG-Bgeo,-Ndp,-EGFP)Nat Edil3^Tg(Sox2-cre)1Amc/?	involves: 129 * C57BL/6 * CBA	MGI:4412196
cn14	Lrp5^tm1Kry/Lrp5^tm1Kry Igs1^tm2(CAG-Bgeo,-Ndp,-EGFP)Nat/Igs1^tm2(CAG-Bgeo,-Ndp,-EGFP)Nat Edil3^Tg(Sox2-cre)1Amc/?	involves: 129 * C57BL/6 * CBA	MGI:4412197
cn15	Ddx3x^tm1.1Lyou/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129 * C57BL/6 * CBA	MGI:5774972
cn16	Ddx3x^tm1.1Lyou/Ddx3x^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129 * C57BL/6 * CBA	MGI:5774973
cn17	Cited2^tm1Bha/Cited2^tm2Bha Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129 * C57BL/6 * CBA * SJL	MGI:3804085
cn18	Cdx2^tm1Fbe/Cdx2^tm2Fbe Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA	MGI:5308975
cn19	Zfp568^Gt(P103E09)Wrst/Zfp568^Gt(RRU161)Byg Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * CBA	MGI:4882136
cn20	Arap3^tm1.1Sve/Arap3^tm1.2Sve Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 * CBA * SJL	MGI:5428759
cn21	Casz1^tm1.1Flc/Casz1^tm1.1Flc Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA * SJL	MGI:5811819
cn22	Map2k1^tm1Bacc/Map2k1^tm1.1Bacc Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:5504406
cn23	Mapk11^tm1Jsca/Mapk11^+ Mapk14^tm2Nbr/Mapk14^tm2Nbr Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:5461498
cn24	Myc^tm2.1Atp/Myc^tm2.1Atp Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3811915
cn25	Elavl1^tm1Dkon/Elavl1^tm1Dkon Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3847920
cn26	Mapk11^tm1Jsca/Mapk11^tm1Jsca Mapk14^tm2Nbr/Mapk14^tm2Nbr Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:5288510
cn27	Mapk11^tm1Jsca/Mapk11^tm1Jsca Mapk14^tm2Nbr/Mapk14^tm3.1(Mapk11)Nbr Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:5288513
cn28	Chd1^tm1c(KOMP)Rsan/Chd1^tm1c(KOMP)Rsan Edil3^Tg(Sox2-cre)1Amc/?	involves: 129P2/OlaHsd * C57BL/6J * CBA	MGI:5708149
cn29	Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem Gt(ROSA)26Sor^tm1(Ctnnb1)Kem/Gt(ROSA)26Sor^tm1.1(Ctnnb1)Kem Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * CBA	MGI:5440177
cn30	Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * CBA	MGI:5440178
cn31	Lama1^tm1.1Arhi/Lama1^tm1.2Arhi Edil3^Tg(Sox2-cre)1Amc/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5426832
cn32	Dph1^tm1.1Cmch/Dph1^tm1.1Cmch Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * CBA	MGI:5659970
cn33	Porcn^tm1.1Lcm/Porcn^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5049887
cn34	Porcn^tm1.1Lcm/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5049886
cn35	Shh^tm1Chg/Shh^tm2Chg Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3687543
cn36	Edil3^Tg(Sox2-cre)1Amc/Edil3^+ Wnt7a^tm1Amc/Wnt7a^tm1Amc Wnt7b^tm1Parr/Wnt7b^tm2Amc	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3831189
cn37	Igs1^tm11(CAG-Bgeo,-Edn2)Nat/Igs1^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5544091
cn38	Disp1^tm1Pab/Disp1^tm1Pab Shh^tm2Chg/Shh^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3687546
cn39	Shh^tm2Chg/Shh^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3687544
cn40	Sall4^tm2Tre/Sall4^tm2.1Tre Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * CD-1	MGI:3693081
cn41	Fzd5^tm1Nat/Fzd5^tm2Nat Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL	MGI:3807221
cn42	Dag1^tm1Kcam/Dag1^tm2.1Kcam Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:5470527
cn43	Pnkp^tm1.1Pmc/Pnkp^tm1.1Pmc Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S1/Sv * C57BL/6 * CBA	MGI:5795747
cn44	Edil3^Tg(Sox2-cre)1Amc/Edil3^+ Hapstr1^tm1.1Menm/Hapstr1^tm1.2Menm Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA	MGI:7646892
cn45	Trim28^tm1.1Ipc/Trim28^tm1.2Ipc Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S2/SvPas * C57BL/6 * CBA	MGI:5620619
cn46	Pak4^tm2.1Amin/Pak4^tm2.2Amin Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S2/SvPas * C57BL/6 * CBA * FVB/N	MGI:4360349
cn47	Trim33^tm1.1Los/Trim33^tm1.2Los Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S2/SvPas * C57BL/6 * CBA * SJL	MGI:4830326
cn48	Lama1^tm1Olf/Lama1^tm1Olf Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S2/SvPas * C57BL/6J * CBA * CD-1 * Swiss Webster	MGI:4456114
cn49	Rac1^tm1Tyb/Rac1^tm2Tyb Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S4/SvJae * C3H * C57BL/6 * CBA	MGI:5050115
cn50	Trpm7^tm1Clph/Trpm7^tm1.1Clph Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3814711
cn51	Pdgfrb^tm12(Pdgfrb)Sor/Pdgfrb^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:5140923
cn52	Pdgfrb^tm13(Pdgfrb)Sor/Pdgfrb^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:5140925
cn53	Yy1^tm1Yshi/Yy1^tm2.1Yshi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:6446753
cn54	Zic3^tm2.1Jwb/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA	MGI:5470168
cn55	Dab2^tm2.1Xxx/Dab2^tm2.2Xxx Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA	MGI:5562566
cn56	Pdgfrb^tm14(Pdgfrb)Sor/Pdgfrb^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S4/SvJaeSor * C57BL/6 * CBA	MGI:5140926
cn57	Gt(ROSA)26Sor^tm1(Wnk1)Clhu/Gt(ROSA)26Sor^+ Wnk1^Gt(OST38262)Lex/Wnk1^Gt(OST38262)Lex Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S5/SvEvBrd * C57BL/6 * CBA	MGI:4360982
cn58	Gli3^tm1Alj/Gli3^+ Tgif1^tm1Caw/Tgif1^tm1Caw Tgif2^tm1Dwot/Tgif2^tm1Dwot Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * CBA	MGI:5791934
cn59	Nsdhl^tm1.1Hrm/Nsdhl^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA	MGI:5896532
cn60	Nsdhl^tm1.1Hrm/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA	MGI:5896533
cn61	Gt(ROSA)26Sor^tm14Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470277
cn62	Gt(ROSA)26Sor^tm8(Aifm1)Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470271
cn63	Gt(ROSA)26Sor^tm6(Vegfa*)Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470268
cn64	Gt(ROSA)26Sor^tm9(Aifm1*)Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470272
cn65	Gt(ROSA)26Sor^tm11(Gata3)Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470274
cn66	Gt(ROSA)26Sor^tm10(Gata2)Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470273
cn67	Gt(ROSA)26Sor^tm4(Snai1)Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470264
cn68	Gt(ROSA)26Sor^tm3(Snai2)Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470265
cn69	Gt(ROSA)26Sor^tm16Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5502197
cn70	Gt(ROSA)26Sor^tm5(CAG-Mdm4,-EGFP)Jhai/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA	MGI:5470266
cn71	Adgrg6^em2Jlp/Adgrg6^em2Jlp Edil3^Tg(Sox2-cre)1Amc/Edil3^+ Gt(ROSA)26Sor^tm1(ADGRG6)Jlp/Gt(ROSA)26Sor^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl * CBA	MGI:7442280
cn72	Psip1^tm1Eng/Psip1^tm1Eng Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:5294952
cn73	Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:5428021
cn74	Eef1a1^tm1Tcrl/Eef1a1^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:5692456
cn75	Erbb3^tm1.1Dwt/Erbb3^tm2.1Dwt Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:4360361
cn76	Esrrb^tm1.1Nat/Esrrb^tm1.2Nat Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL	MGI:3723508
cn77	Ubr4^tm1.2Nkt/Ubr4^tm1.2Nkt Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL	MGI:5532401
cn78	E2f7^tm1Gle/E2f7^tm1Gle E2f8^tm1Gle/E2f8^tm1Gle Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:5473267
cn79	Pten^tm1Ppp/Pten^+ Rac1^tm1Tyb/Rac1^tm2Tyb Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/Sv * C3H * C57BL/6 * CBA	MGI:5050118
cn80	Eomes^tm1Rob/Eomes^tm1.1Rob Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA	MGI:3775735
cn81	Tlk2^tm1.1Strc/Tlk2^tm1.2Strc Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C3H * C57BL/6	MGI:6274368
cn82	Nodal^tm1Rob/Nodal^tm5Rob Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C57BL/6	MGI:3056367
cn83	Nodal^tm1Rob/Nodal^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+ Tgif1^tm1Caw/Tgif1^tm1Caw Tgif2^tm1Dwot/Tgif2^tm1Dwot	involves: 129S/SvEv * C57BL/6 * C57BL/6J * CBA	MGI:4437426
cn84	Edil3^Tg(Sox2-cre)1Amc/Edil3^+ Tgif1^tm1Caw/Tgif1^tm1Caw Tgif2^tm1Dwot/Tgif2^tm1Dwot	involves: 129S/SvEv * C57BL/6 * C57BL/6J * CBA	MGI:4437424
cn85	Lhx1^tm1Bhr/Lhx1^tm2.1Rob Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA	MGI:5699420
cn86	Eomes^tm1Rob/Eomes^tm2.1Rob Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C57BL/6 * CBA	MGI:4399139
cn87	Eomes^tm1Rob/Eomes^tm1.1Rob Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C57BL/6 * CBA	MGI:3775733
cn88	Eomes^tm1Rob/Eomes^+ Nodal^tm1Rob/Nodal^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C57BL/6 * CBA	MGI:3775737
cn89	Sppl3^tm1Itl/Sppl3^tm1Itl Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C57BL/6 * CBA	MGI:6515777
cn90	Smad2^tm1Rob/Smad2^tm2Rob Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * C57BL/6 * CBA * CD-1	MGI:2668417
cn91	Map2k1^tm1Chrn/Map2k1^tm1.1Chrn Edil3^Tg(Sox2-cre)1Amc/?	involves: 129S/SvEv * C57BL/6 * CBA * FVB/N	MGI:3714923
cn92	Smad4^tm1Rob/Smad4^tm1.1Rob Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S/SvEv * CD-1	MGI:3624716
cn93	Smad2^tm1Rob/Smad2^tm2Rob Smad3^tm1Xfw/Smad3^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129/Sv * 129S/SvEv * C57BL/6 * CBA * CD-1	MGI:3689505
cn94	Disp1^icb/Disp1^icb Shh^tm1Amc/Shh^tm5Amc Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129/Sv * C57BL/6J * SWR	MGI:3513053
cn95	Evc2^tm2.1Mis/Evc2^tm2.1Mis Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:5698047
cn96	Wnt7b^tm2Amc/Wnt7b^tm2.1Amc Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:3793499
cn97	Fzr1^tm1Mama/Fzr1^tm1.1Mama Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: BALB/cJ * C57BL/6 * SJL	MGI:3801167
cn98	Nuggc^tm1Diaz/Nuggc^tm1Diaz Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * C57BL/6J * CBA	MGI:5476766
cn99	Chd3^tm1.1Cya/Chd3^tm1.1Cya Edil3^Tg(Sox2-cre)1Amc/0	involves: C57BL/6 * C57BL/6J * CBA	MGI:6456931
cn100	Hapstr1^tm1.1Menm/Hapstr1^tm1.2Menm Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * C57BL/6J * CBA	MGI:7646887
cn101	Ankmy2^tm1a(EUCOMM)Hmgu/Ankmy2^tm1a(EUCOMM)Hmgu Edil3^Tg(Sox2-cre)1Amc/0	involves: C57BL/6 * C57BL/6N * CBA	MGI:6489568
cn102	Ctsd^tm1.1Thre/Ctsd^tm1.1Thre Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * C57BL/6N * CBA * SJL	MGI:5702327
cn103	Enpp2^tm1Vart/Enpp2^tm1Vart Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:4441466
cn104	Hcfc1^tm1Lwh/Hcfc1^+ Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:5901761
cn105	Gt(ROSA)26Sor^tm1.1(DUX4*)Plj/Gt(ROSA)26Sor^+ Edil3^Tg(Sox2-cre)1Amc/0	involves: C57BL/6 * CBA	MGI:6120561
cn106	Adgrg6^em3Jlp/Adgrg6^em3Jlp Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:7442279
cn107	Slc13a4^tm1c(EUCOMM)Wtsi/Slc13a4^tm1d(EUCOMM)Wtsi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:5896626
cn108	Mapk14^tm2Nbr/Mapk14^tm3.1(Mapk11)Nbr Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:5288515
cn109	Prickle1^tm1.2Asw/Prickle1^tm1.3Asw Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:5649032
cn110	Prickle1^tm1.3Asw/Prickle1^tm1.3Asw Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:5649031
cn111	Zic3^tm1.1Smwa/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:5476839
cn112	Hcfc1^tm1Lwh/Hcfc1^tm1Lwh Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:5901762
cn113	Hcfc1^tm1Lwh/Y Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA	MGI:5901759
cn114	Foxp2^tm1Sfis/Foxp2^tm1.2Sfis Edil3^Tg(Sox2-cre)1Amc/?	involves: C57BL/6 * CBA * SJL	MGI:3723632
cn115	Orc1^tm1.1Gle/Orc1^tm1.2Gle Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA * SJL	MGI:7408228
cn116	Fzr1^tm1Mama/Fzr1^tm1Mama Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6 * CBA * SJL	MGI:3801166
cn117	Prdm15^tm1c(EUCOMM)Wtsi/Prdm15^tm1c(EUCOMM)Wtsi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6J * C57BL/6N	MGI:6403992
cn118	Commd9^tm1c(KOMP)Wtsi/Commd9^tm1c(KOMP)Wtsi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6N	MGI:5796348
cn119	Arhgef7^tm1c(EUCOMM)Wtsi/Arhgef7^tm1c(EUCOMM)Wtsi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6N * CBA	MGI:6841001
cn120	Strip1^tm1b(KOMP)Wtsi/Strip1^tm1c(KOMP)Wtsi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL/6N * CBA * FVB/NJ * SJL	MGI:6121353
cn121	Vps52^tm1.1Kab/Vps52^tm1.2Kab Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: C57BL * C57BL/6 * CBA * DBA	MGI:5464113

Genotype
MGI:5438241

cn1

• Allelic Composition: Cul4b^tm1Swl/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: B6.Cg-Edil3^{Tg(Sox2-cre)1Amc} Cul4b^tm1Swl

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

nervous system

increased susceptibility to pharmacologically induced seizures ( J:187403 )

♂ • PTZ-induced

abnormal dendrite morphology ( J:187403 )

♂ • hippocampal neurons exhibit reduced dendritic complexity and spine density compared with control neurons

abnormal dendritic spine morphology ( J:187403 )

♂ • hippocampal neurons exhibit reduced dendritic complexity and spine density compared with control neurons

decreased neuron number ( J:187403 )

♂ • fewer PV+ hippocampal neurons

♂ • however, mice exhibit normal numbers of SS+ and GAD67+ neurons

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:187403 )

♂ • PTZ-induced

abnormal spatial learning ( J:187403 )

♂ • impaired in a Morris water maze

impaired spatial working memory ( J:187403 )

♂ • impaired in a Morris water maze

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intellectual disability		DOID:1059		J:187403

Genotype
MGI:6116214

cn2

• Allelic Composition: Prkag2^tm1.1Geno/Prkag2^tm1.1Geno; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: B6.Cg-Prkag2^tm1.1Geno Edil3^{Tg(Sox2-cre)1Amc}

cardiovascular system

increased heart rate ( J:256296 )

• small but significant increase in heart rate, both in vivo under anesthesia and during ambulatory telemetric recordings, as well as in ex vivo

abnormal sinoatrial node conduction ( J:256296 )

• sinoatrial cells display enhanced automaticity but equivalent maximum diastolic potential and cell capacitance to controls

• however, sinoatrial cells show normal sarcolemmal hyperpolarization-activated funny current, I(f) density and no changes in fractional activation

• sinoatrial cells reach a similar maximal rate in response to isoproterenol as controls, but starting from a higher baseline rate, this reflects a smaller proportional increase from baseline

Genotype
MGI:3629061

cn3

• Allelic Composition: Abcb7^tm1Mdf/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: either: B6.Cg-Edil3^{Tg(Sox2-cre)1Amc} Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:106838 )

♂ • die at E7.5 - E8.5

Genotype
MGI:3629062

cn4

• Allelic Composition: Abcb7^tm1Mdf/Abcb7⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: either: B6.Cg-Edil3^{Tg(Sox2-cre)1Amc} Abcb7^tm1Mdf or (involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6 * CBA)

mortality/aging

mortality/aging ( J:106838 )

♀N • females are viable

Genotype
MGI:5516067

cn5

• Allelic Composition: Kdm6a^{tm1c(EUCOMM)Wtsi}/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: either: (involves: C57BL/6 * CBA * CD-1) or (involves: 129 * C57BL/6 * CBA * CD-1)

mortality/aging

mortality/aging ( J:201868 )

♂N • males recovered at expected frequencies at E18.5

Genotype
MGI:5516066

cn6

• Allelic Composition: Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: either: (involves: C57BL/6 * CBA * CD-1) or (involves: 129 * C57BL/6 * CBA * CD-1)

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:201868 )

♀ • no females recovered at E18.5

Genotype
MGI:5502172

cn7

• Allelic Composition: Cul4b^tm1.1Pz/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * CBA

normal phenotype

no abnormal phenotype detected ( J:199210 )

♂ • mice are healthy and show no abnormal development

Genotype
MGI:5502173

cn8

• Allelic Composition: Cul4b^tm1.1Pz/Cul4b⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * CBA

mortality/aging

mortality/aging ( J:199210 )

♀N • live mice are produced in Mendelian ratios

Genotype
MGI:6116217

cn9

• Allelic Composition: Fnip1^m1Btlr/Fnip1^m1Btlr; Prkag2^tm1.1Geno/Prkag2^tm1.1Geno; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * CBA

cardiovascular system

cardiovascular system phenotype ( J:256296 )

N • mice exhibit rescue of the bradycardia seen in single Fnip1 homozygotes

Genotype
MGI:6156399

cn10

• Allelic Composition: Dicer1^tm1Bdh/Dicer1^tm1Bdh; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA

embryo

spina bifida ( J:244791 )

• observed at E8.5

nervous system

spina bifida ( J:244791 )

• observed at E8.5

Genotype
MGI:4412194

cn11

• Allelic Composition: Igs1^{tm2(CAG-Bgeo,-Ndp,-EGFP)Nat}/Igs1^{tm2(CAG-Bgeo,-Ndp,-EGFP)Nat}; Edil3^{Tg(Sox2-cre)1Amc}/?
• Genetic Background: involves: 129 * C57BL/6 * CBA

mortality/aging

prenatal lethality, complete penetrance ( J:154020 )

• Background Sensitivity: mid-gestational lethality

growth/size/body

embryonic growth retardation ( J:154020 )

• Background Sensitivity: growth retardation at E10.5

cardiovascular system

abnormal aorta smooth muscle morphology ( J:154020 )

• Background Sensitivity: no visceral smooth muscle associated with the aorta at E9.5

abnormal angiogenesis ( J:154020 )

• Background Sensitivity: severely disrupted

embryo

embryonic growth retardation ( J:154020 )

• Background Sensitivity: growth retardation at E10.5

muscle

abnormal aorta smooth muscle morphology ( J:154020 )

• Background Sensitivity: no visceral smooth muscle associated with the aorta at E9.5

Genotype
MGI:4412195

cn12

• Allelic Composition: Fzd4^tm1Nat/Fzd4⁺; Igs1^{tm2(CAG-Bgeo,-Ndp,-EGFP)Nat}/Igs1^{tm2(CAG-Bgeo,-Ndp,-EGFP)Nat}; Edil3^{Tg(Sox2-cre)1Amc}/?
• Genetic Background: involves: 129 * C57BL/6 * CBA

mortality/aging

embryonic lethality, incomplete penetrance ( J:154020 )

• Background Sensitivity: mid-gestational lethality but some survival to E18

growth/size/body

embryonic growth retardation ( J:154020 )

• Background Sensitivity: growth retardation moderated

cardiovascular system

abnormal descending aorta morphology ( J:154020 )

• Background Sensitivity: disruption less severe

abnormal angiogenesis ( J:154020 )

• Background Sensitivity: less severely disrupted

embryo

embryonic growth retardation ( J:154020 )

• Background Sensitivity: growth retardation moderated

Genotype
MGI:4412196

cn13

• Allelic Composition: Fzd4^tm1Nat/Fzd4^tm1Nat; Igs1^{tm2(CAG-Bgeo,-Ndp,-EGFP)Nat}/Igs1^{tm2(CAG-Bgeo,-Ndp,-EGFP)Nat}; Edil3^{Tg(Sox2-cre)1Amc}/?
• Genetic Background: involves: 129 * C57BL/6 * CBA

mortality/aging

mortality/aging ( J:154020 )

N • Background Sensitivity: normal survival

growth/size/body

growth/size/body region phenotype ( J:154020 )

N • Background Sensitivity: normal phenotype

cardiovascular system

cardiovascular system phenotype ( J:154020 )

N • Background Sensitivity: normal phenotype

Genotype
MGI:4412197

cn14

• Allelic Composition: Lrp5^tm1Kry/Lrp5^tm1Kry; Igs1^{tm2(CAG-Bgeo,-Ndp,-EGFP)Nat}/Igs1^{tm2(CAG-Bgeo,-Ndp,-EGFP)Nat}; Edil3^{Tg(Sox2-cre)1Amc}/?
• Genetic Background: involves: 129 * C57BL/6 * CBA

mortality/aging

embryonic lethality, incomplete penetrance ( J:154020 )

• Background Sensitivity: mid-gestational lethality but some survival improvement

growth/size/body

embryonic growth retardation ( J:154020 )

• Background Sensitivity: growth retardation moderated

cardiovascular system

abnormal descending aorta morphology ( J:154020 )

• Background Sensitivity: disruption less severe

abnormal angiogenesis ( J:154020 )

• Background Sensitivity: less severely disrupted

embryo

embryonic growth retardation ( J:154020 )

• Background Sensitivity: growth retardation moderated

Genotype
MGI:5774972

cn15

• Allelic Composition: Ddx3x^tm1.1Lyou/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA

mortality/aging

embryonic lethality prior to tooth bud stage ( J:231798 )

♂ • non-viable embryos are detected at E10.5 and E11.5

preweaning lethality, complete penetrance ( J:231798 )

♂ • by weaning no males are detected

embryo

increased embryonic tissue cell apoptosis ( J:231798 )

♂ • in the whole body and allantois before embryo turning

abnormal developmental patterning ( J:231798 )

♂ • deformed caudal embryonic structure at E9.5

abnormal embryo turning ( J:231798 )

♂ • failure of body turning

embryonic growth retardation ( J:231798 )

♂ • developmental delay at E9.5

abnormal head fold morphology ( J:231798 )

♂ • at E9.5

abnormal neural tube closure ( J:231798 )

♂ • defective

abnormal allantois morphology ( J:231798 )

♂ • deformed

small allantois ( J:231798 )

♂ • shorter at E9.5

failure of chorioallantoic fusion ( J:231798 )

♂ • at E8.5 in unturned embryos

cellular

abnormal cell physiology ( J:231798 )

♂ • increase in markers of DNA damage

abnormal cell cycle ( J:231798 )

♂ • cell cycle arrest

increased mitotic index ( J:231798 )

♂ • in embryos at E9.5

increased embryonic tissue cell apoptosis ( J:231798 )

♂ • in the whole body and allantois before embryo turning

cardiovascular system

abnormal myocardial trabeculae morphology ( J:231798 )

♂ • poorly developed

pericardial effusion ( J:231798 )

♂

growth/size/body

embryonic growth retardation ( J:231798 )

♂ • developmental delay at E9.5

microcephaly ( J:231798 )

♂

nervous system

abnormal neural tube closure ( J:231798 )

♂ • defective

abnormal brain development ( J:231798 )

♂ • underdeveloped

homeostasis/metabolism

pericardial effusion ( J:231798 )

♂

muscle

abnormal myocardial trabeculae morphology ( J:231798 )

♂ • poorly developed

Genotype
MGI:5774973

cn16

• Allelic Composition: Ddx3x^tm1.1Lyou/Ddx3x⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA

normal phenotype

no abnormal phenotype detected ( J:231798 )

♀ • females with loss of expression of the maternal allele in the epiblast but not visceral endoderm and extraembryonic ectoderm are viable with no gross abnormalities

Genotype
MGI:3804085

cn17

• Allelic Composition: Cited2^tm1Bha/Cited2^tm2Bha; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:137951 )

• though present in Mendelian ratios at E15.5, mice die during late gestation or postnatal development with no mice present at weaning

lethality throughout fetal growth and development, incomplete penetrance ( J:137951 )

• though present in Mendelian ratios at E15.5, mice die during late gestation or postnatal development with no mice present at weaning

cardiovascular system

right aortic arch ( J:137951 )

• in some mice

abnormal inferior vena cava morphology ( J:137951 )

• bilateral in one mouse

absent coronary sinus ( J:137951 )

double outlet right ventricle ( J:137951 )

• in some mice

transposition of great arteries ( J:137951 )

• in some mice

common atrioventricular valve ( J:137951 )

• some mice exhibit a common atrioventricular valve

right atrial isomerism ( J:137951 )

• in some mice

ostium primum atrial septal defect ( J:137951 )

• in some mice

dextrocardia ( J:137951 )

• in one mouse

ventricular septal defect ( J:137951 )

• in all embryos at E15.5

abnormal heart left ventricle morphology ( J:137951 )

• abnormal ventricular topology

respiratory system

right pulmonary isomerism ( J:137951 )

• in 6 of 10 embryos and associated with right atrial isomerism at E15.5

nervous system

exencephaly ( J:137951 )

• 2 mice at E15.5

endocrine/exocrine glands

absent adrenal gland ( J:137951 )

growth/size/body

right atrial isomerism ( J:137951 )

• in some mice

right pulmonary isomerism ( J:137951 )

• in 6 of 10 embryos and associated with right atrial isomerism at E15.5

Genotype
MGI:5308975

cn18

• Allelic Composition: Cdx2^tm1Fbe/Cdx2^tm2Fbe; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA

embryo

caudal body truncation ( J:179732 )

• at E10.5

Genotype
MGI:4882136

cn19

• Allelic Composition: Zfp568^{Gt(P103E09)Wrst}/Zfp568^{Gt(RRU161)Byg}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * CBA

embryo

abnormal embryo development ( J:168015 )

• partial rescue of the null phenotype with some embryos displaying all defects seen in mice homozygous for Zfp568^chato, some displaying only the extraembryonic defects, and some having a wild-type phenotype

• the degree of rescue is at least partially related to the degree of cre mediated recombination

Genotype
MGI:5428759

cn20

• Allelic Composition: Arap3^tm1.1Sve/Arap3^tm1.2Sve; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 * CBA * SJL

mortality/aging

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

• die around E11

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

embryo

abnormal placenta vasculature ( J:185401 )

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

embryonic growth arrest ( J:185401 )

decreased embryo size ( J:185401 )

abnormal placenta labyrinth morphology ( J:185401 )

• defect in labyrinth formation

decreased placental labyrinth size ( J:185401 )

excessive folding of visceral yolk sac ( J:185401 )

• wrinkled yolk sac

pale yolk sac ( J:185401 )

cardiovascular system

abnormal placenta vasculature ( J:185401 )

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

growth/size/body

decreased embryo size ( J:185401 )

integument

pallor ( J:185401 )

Genotype
MGI:5811819

cn21

• Allelic Composition: Casz1^tm1.1Flc/Casz1^tm1.1Flc; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA * SJL

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:221324 )

• embryos do not survive past E14.5

cardiovascular system

abnormal heart development ( J:221324 )

• at E12.5, embryos show a cardiac phenotype indistinguishable from that of embryos homozygous for Casz1^tm1.1Flc and heterozygous for Nkx2-5^tm1(cre)Rjs

ventricular septal defect ( J:221324 )

• at E12.5

heart hypoplasia ( J:221324 )

• severe cardiac hypoplasia at E12.5

thin ventricular wall ( J:221324 )

• at E12.5

Genotype
MGI:5504406

cn22

• Allelic Composition: Map2k1^tm1Bacc/Map2k1^tm1.1Bacc; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

normal phenotype

no abnormal phenotype detected ( J:199705 )

• mice do not exhibit any obvious phenotypes

Genotype
MGI:5461498

cn23

• Allelic Composition: Mapk11^tm1Jsca/Mapk11⁺; Mapk14^tm2Nbr/Mapk14^tm2Nbr; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

reproductive system

primary sex reversal ( J:191096 )

• XY sex reversal of gonads at E14.5

Genotype
MGI:3811915

cn24

• Allelic Composition: Myc^tm2.1Atp/Myc^tm2.1Atp; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:137630 )

• mice die between E11.25 and E11.75

liver/biliary system

liver hypoplasia ( J:137630 )

hematopoietic system

abnormal common myeloid progenitor cell morphology ( J:137630 )

• when embryonic or yolk sac cells are cultured, few abnormal colony-forming unit-granulocyte/macrophage colonies form unlike when wild-type cells are cultured

impaired hematopoiesis ( J:137630 )

• despite normal numbers of hematopoietic stem cells, hematopoiesis is impaired

decreased erythroid progenitor cell number ( J:137630 )

• erythroblast precursors are decreased 1500-fold compared to in wild-type mice due to a 19-fold increased in apoptosis at E9.5 and a 41-fold increased at E10.5

• when embryonic or yolk sac cells are cultured, few abnormal blast-forming unit-erythroid colonies form unlike when wild-type cells are cultured

abnormal proerythroblast morphology ( J:137630 )

• the number of early basophilic erythroblasts is decreased 11.5-fold compared to in wild-type mice

embryo

decreased embryo size ( J:137630 )

• at E11.5

pale yolk sac ( J:137630 )

growth/size/body

decreased embryo size ( J:137630 )

• at E11.5

cardiovascular system

cardiovascular system phenotype ( J:137630 )

N • embryonic vasculature development is normal

Genotype
MGI:3847920

cn25

• Allelic Composition: Elavl1^tm1Dkon/Elavl1^tm1Dkon; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:149149 )

• mid-gestational embryonic lethality is not observed in the offspring of male Tg(Sox2-cre)1Amc transgenics and female Elavl1^tm1.1Dkon homozygotes

• instead fetuses die between E17.5 and E19.5

embryo

small limb buds ( J:149149 )

• E14.5 embryos possess limbs of reduced size, which in many cases lacked definable digits and resemble E12.5 limb buds

skeleton

abnormal craniofacial bone morphology ( J:149149 )

• craniofacial osteogenic ossification is delayed in 80% of E17.5 embryos with the exception of mandibles that develop normally

split xiphoid process ( J:149149 )

• sternums in E17.5-E18.5 embryos have a xiphoid process that is open and bifid

abnormal vertebrae development ( J:149149 )

• vertebrae are not ossified in E18.5 embryos and lack the articular processes that connect vertebrae

synostosis ( J:149149 )

• radial and ulnar bones are fused in more than 40% of the E17.5 embryos

delayed endochondral bone ossification ( J:149149 )

• skeletal structures of E17.5- E19.5 embryos remained primarily cartilaginous

• long bones are shorter in null embryos and show minimal ossification zones in scapulae, femurs, and tibia

craniofacial

abnormal craniofacial bone morphology ( J:149149 )

• craniofacial osteogenic ossification is delayed in 80% of E17.5 embryos with the exception of mandibles that develop normally

midline facial cleft ( J:149149 )

• less than 15% of E17.5 embryos have severe nasal clefting

immune system

abnormal spleen development ( J:149149 )

• spleens are absent in E15.5 and E19.5 embryos

absent spleen ( J:149149 )

• spleens are absent in E15.5 and E19.5 embryos

limbs/digits/tail

small limb buds ( J:149149 )

• E14.5 embryos possess limbs of reduced size, which in many cases lacked definable digits and resemble E12.5 limb buds

syndactyly ( J:149149 )

• is observed within both forelimbs (carpal to metacarpal) and hindlimbs (tarsal to metatarsal) of E17.5 embryos

short limbs ( J:149149 )

• fetal mice have short limbs

• long bones are shorter in null embryos and show minimal ossification zones in the femurs and tibia

respiratory system

abnormal lung development ( J:149149 )

• major dysmorphologies occur in the lung of E19.5 embyros

hematopoietic system

abnormal spleen development ( J:149149 )

• spleens are absent in E15.5 and E19.5 embryos

absent spleen ( J:149149 )

• spleens are absent in E15.5 and E19.5 embryos

growth/size/body

midline facial cleft ( J:149149 )

• less than 15% of E17.5 embryos have severe nasal clefting

Genotype
MGI:5288510

cn26

• Allelic Composition: Mapk11^tm1Jsca/Mapk11^tm1Jsca; Mapk14^tm2Nbr/Mapk14^tm2Nbr; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Developmental defects in Mapk14^tm2Nbr/Mapk14^tm2Nbr Edil3^{Tg(Sox2-cre)1Amc}/0 Mapk11^tm1Jsca/Mapk11^tm1Jsca embryos

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:176023 )

• all die between E16.5 and E18.5

nervous system

abnormal neuron proliferation ( J:176023 )

• spina bifida is correlated with neural hyperproliferation

spina bifida ( J:176023 )

• at E13.5

exencephaly ( J:176023 )

• in 30% of mice at E13.5

cardiovascular system

ventricular septal defect ( J:176023 )

abnormal fetal cardiomyocyte proliferation ( J:176023 )

• decreased proliferation at E13.5

liver/biliary system

increased hepatocyte apoptosis ( J:176023 )

• at E13.5

abnormal liver morphology ( J:176023 )

• at E13.5 dissociated hepatocytes and infiltration of hematopoietic cells are seen

small liver ( J:176023 )

• at E13.5

reproductive system

primary sex reversal ( J:191096 )

• complete XY sex reversal of gonads at E14.5

muscle

abnormal fetal cardiomyocyte proliferation ( J:176023 )

• decreased proliferation at E13.5

embryo

spina bifida ( J:176023 )

• at E13.5

cellular

abnormal fetal cardiomyocyte proliferation ( J:176023 )

• decreased proliferation at E13.5

increased hepatocyte apoptosis ( J:176023 )

• at E13.5

abnormal neuron proliferation ( J:176023 )

• spina bifida is correlated with neural hyperproliferation

Genotype
MGI:5288513

cn27

• Allelic Composition: Mapk11^tm1Jsca/Mapk11^tm1Jsca; Mapk14^tm2Nbr/Mapk14^{tm3.1(Mapk11)Nbr}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Cardiac defects in Mapk14^{tm3.1(Mapk11)Nbr}/Mapk14^tm2Nbr Edil3^{Tg(Sox2-cre)1Amc}/0 Mapk11^tm1Jsca/Mapk11^tm1Jsca embryos

mortality/aging

postnatal lethality, complete penetrance ( J:176023 )

• present in the expected numbers at E18.5 but none are found at weaning

cardiovascular system

ventricular septal defect ( J:176023 )

nervous system

nervous system phenotype ( J:176023 )

N • spina bifida phenotype seen in double null mice is rescued in mice carrying the Mapk14^{tm3.1(Mapk11)Nbr} allele

Genotype
MGI:5708149

cn28

• Allelic Composition: Chd1^{tm1c(KOMP)Rsan}/Chd1^{tm1c(KOMP)Rsan}; Edil3^{Tg(Sox2-cre)1Amc}/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

mortality/aging

embryonic lethality, complete penetrance ( J:217689 )

• embryos undergoing resorption by E9.5

Genotype
MGI:5440177

cn29

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem; Gt(ROSA)26Sor^{tm1(Ctnnb1)Kem}/Gt(ROSA)26Sor^{tm1.1(Ctnnb1)Kem}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

prenatal lethality, complete penetrance ( J:187739 )

embryo

abnormal germ layer development ( J:187739 )

• at E8.5 embryos have a sac-like structure composed of 2 layers where the outer layer is reminiscent of the visceral endoderm and the inner layer has characteristics of a pseudostratified epithelium

failure to gastrulate ( J:187739 )

• expression analysis indicates failure to gastrulate

abnormal embryonic tissue morphology ( J:187739 )

• formation of proper embryonic structures is incomplete

Genotype
MGI:5440178

cn30

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

prenatal lethality, complete penetrance ( J:187739 )

embryo

abnormal embryonic tissue morphology ( J:187739 )

• absence of embryonic structures at E8.5

Genotype
MGI:5426832

cn31

• Allelic Composition: Lama1^tm1.1Arhi/Lama1^tm1.2Arhi; Edil3^{Tg(Sox2-cre)1Amc}/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

mortality/aging ( J:184432 )

N • mice complete gestation and survive postnatally

behavior/neurological

limb grasping ( J:184432 )

impaired coordination ( J:184432 )

• shorter latency to fall in a rotarod test

short stride length ( J:184432 )

nervous system

abnormal radial glial cell morphology ( J:184432 )

• fibers are short

abnormal cerebellum morphology ( J:184432 )

abnormal cerebellar foliation ( J:184432 )

• decreased depth of folia

• aggregations of granule cells on cerebellar surface along the line of fusion between adjacent folia

abnormal cerebellar Purkinje cell layer ( J:184432 )

• Purkinje cell layer is distorted

• some Purkinje cells are not located in Purkinje cell layer

abnormal Bergmann glial cell morphology ( J:184432 )

• fibers are short with fragmented endfeet

abnormal Purkinje cell dendrite morphology ( J:184432 )

• dendritic tree of Purkinje cells is reduced

abnormal cerebellar granule layer morphology ( J:184432 )

• fewer proliferating granule cell precursors from birth to 10 days of age

• migration of granule cells from external to internal layer is not observed

small cerebellum ( J:184432 )

• superior colliculus is exposed on the surface of the brain

abnormal brain meninges morphology ( J:184432 )

• meninges are thin

abnormal brain pia mater morphology ( J:184432 )

• pial basement membrane is irregular

• density of glial cells is reduced

cellular

abnormal radial glial cell morphology ( J:184432 )

• fibers are short

Genotype
MGI:5659970

cn32

• Allelic Composition: Dph1^tm1.1Cmch/Dph1^tm1.1Cmch; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:214744 )

• die shortly after birth

craniofacial

small cranium ( J:214744 )

mandible hypoplasia ( J:214744 )

• underdeveloped mandible

short mandible ( J:214744 )

• in newborns

absent palatine bone ( J:214744 )

• in newborns

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

growth/size/body

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

fetal growth retardation ( J:214744 )

• growth retardation at E14.5

homeostasis/metabolism

edema ( J:214744 )

integument

pallor ( J:214744 )

• pale appearance at E14.5

digestive/alimentary system

palatal shelves fail to meet at midline ( J:214744 )

• palatal shelves remain in a vertical position

cleft palate ( J:214744 )

abnormal tongue position ( J:214744 )

• tongue fails to descend

skeleton

small cranium ( J:214744 )

mandible hypoplasia ( J:214744 )

• underdeveloped mandible

short mandible ( J:214744 )

• in newborns

absent palatine bone ( J:214744 )

• in newborns

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:214744

Genotype
MGI:5049887

cn33

• Allelic Composition: Porcn^tm1.1Lcm/Porcn⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Focal dermal hypoplasia-like phenotypes in Porcn^tm1.1Lcm/Porcn⁺ Edil3^{Tg(Sox2-cre)1Amc}/0 embryos

mortality/aging

perinatal lethality, complete penetrance ( J:173672 )

♀ • only 1 viable pup was produced from several litters

limbs/digits/tail

abnormal autopod morphology ( J:173672 )

♀ • absent

absent ulna ( J:173672 )

♀

abnormal tail morphology ( J:173672 )

♀

short tail ( J:173672 )

♀ • tail hypoplasia at E17.5

integument

integument phenotype ( J:173672 )

♀N • mice exhibit normal keratinocyte development

hairless ( J:173672 )

♀ • in one mouse produced on its ventral skin

abnormal hair follicle development ( J:173672 )

♀ • at E17.5, mice exhibit large patches of abnormally smooth, hair follicle-free epidermis unlike in wild-type mice

thin dermal layer ( J:173672 )

♀ • mice exhibit dermal atrophy unlike wild-type mice

growth/size/body

cleft palate ( J:173672 )

♀ • at E17.5

omphalocele ( J:173672 )

♀ • at E17.5

decreased body size ( J:173672 )

♀ • in one mouse produced

embryo

caudal body truncation ( J:173672 )

♀ • tail/posterior axis truncation

craniofacial

cleft palate ( J:173672 )

♀ • at E17.5

skeleton

absent ulna ( J:173672 )

♀

sternum hypoplasia ( J:173672 )

♀ • in severe cases

digestive/alimentary system

cleft palate ( J:173672 )

♀ • at E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:173672

Genotype
MGI:5049886

cn34

• Allelic Composition: Porcn^tm1.1Lcm/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:173672 )

♂ • no mice are recovered between E15.5 and E18.5

embryo

abnormal mesoderm development ( J:173672 )

♂ • at E6.5, mice fail to express Brachyury, an early mesoderm marker, unlike in wild-type mice

Genotype
MGI:3687543

cn35

• Allelic Composition: Shh^tm1Chg/Shh^tm2Chg; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality ( J:125109 )

limbs/digits/tail

abnormal carpal bone morphology ( J:109101 )

• exhibit defective development of the carpal and tarsal bones in the central digit

abnormal digit morphology ( J:109101 )

• in the forelimb, digit 2 is replaced with a biphalangeal digit characteristic of digit 1

• in the hindlimb, digit 1 is replaced by digits with more posterior characteristics

abnormal tarsal bone morphology ( J:109101 )

• exhibit defective development of the carpal and tarsal bones in the central digit

skeleton

abnormal carpal bone morphology ( J:109101 )

• exhibit defective development of the carpal and tarsal bones in the central digit

abnormal tarsal bone morphology ( J:109101 )

• exhibit defective development of the carpal and tarsal bones in the central digit

Genotype
MGI:3831189

cn36

• Allelic Composition: Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺; Wnt7a^tm1Amc/Wnt7a^tm1Amc; Wnt7b^tm1Parr/Wnt7b^tm2Amc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:142352 )

• all embryos die around E12.5 due to severe hemorrhaging within the central nervous system

cardiovascular system

abnormal vasculogenesis ( J:142352 )

• while vascularization has occurred within the ventral neural tube of control E10.5 embryos at the forelimb level, no such vascularization is observed in this region of mutant embryos

• in E12.5 embryos, endothelial cells and pericytes are absent from all ventral neural regions of the presumptive spinal cord except for in the floor plate

• in the dorsal neural tube of E12.5 embryos, endothelial cells and pericytes form abnormal clusters and enlarged lumens in the vascular structures present

intracranial hemorrhage ( J:142352 )

• hemorrhaging is detected throughout the developing brain of E12.5 embryos

spinal hemorrhage ( J:142352 )

• hemorrhaging is detected throughout the developing spine of E12.5 embryos

abnormal blood-brain barrier function ( J:142352 )

• hemorrhaging and downregulation of the endothelial marker GLUT-1 suggest a defect in the blood brain barrier of developing embryos

nervous system

intracranial hemorrhage ( J:142352 )

• hemorrhaging is detected throughout the developing brain of E12.5 embryos

spinal hemorrhage ( J:142352 )

• hemorrhaging is detected throughout the developing spine of E12.5 embryos

abnormal blood-brain barrier function ( J:142352 )

• hemorrhaging and downregulation of the endothelial marker GLUT-1 suggest a defect in the blood brain barrier of developing embryos

Genotype
MGI:5544091

cn37

• Allelic Composition: Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Inhibition of vascular development and midgestational lethality in Igs1^{tm11(CAG-Bgeo,-Edn2)Nat}/Igs1⁺ Edil3^{Tg(Sox2-cre)1Amc}/0 embryos

mortality/aging

prenatal lethality ( J:201133 )

cardiovascular system

abnormal vascular development ( J:201133 )

• near complete absence of vascular development at E9.5

enlarged heart ( J:201133 )

• at E9.5-E10.5

internal hemorrhage ( J:201133 )

• pooling of blood in the head and thorax at E9.5-E10.5

embryo

embryonic growth retardation ( J:201133 )

• mild growth retardation at E8.5 and severe retardation at E9.5-E10.5

open neural tube ( J:201133 )

• at E9.5-E10.5

growth/size/body

enlarged heart ( J:201133 )

• at E9.5-E10.5

embryonic growth retardation ( J:201133 )

• mild growth retardation at E8.5 and severe retardation at E9.5-E10.5

nervous system

open neural tube ( J:201133 )

• at E9.5-E10.5

Genotype
MGI:3687546

cn38

• Allelic Composition: Disp1^tm1Pab/Disp1^tm1Pab; Shh^tm2Chg/Shh⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:109101 )

• survive to at least E18.5

limbs/digits/tail

abnormal digit morphology ( J:109101 )

• digits show segmentation and calcification defects

preaxial polydactyly ( J:109101 )

• develop 6-7 digits per limb (preaxial polydactyly)

Genotype
MGI:3687544

cn39

• Allelic Composition: Shh^tm2Chg/Shh⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:125109 )

• animals die perinatally

nervous system

holoprosencephaly ( J:125109 )

• brain defects mimic human holoprosencephaly but external craniofacial morphology is relatively unaffected

increased forebrain size ( J:125109 )

• enlarged

increased midbrain size ( J:125109 )

• enlarged midbrain

enlarged brain ventricles ( J:125109 )

• ventricles are enlarged at E10.5

abnormal choroid plexus morphology ( J:125109 )

• development is defective at E13.5

abnormal telencephalon morphology ( J:125109 )

• telencephalic ventricles are widely separated at E10.5

• at E12.5, telencephalon lacks thickened hippocampal neuroepithelium

• at E10.5 dorsal midline has failed to invaginate in contrast to wild-type

abnormal hippocampus development ( J:125109 )

• defective at E13.5

abnormal telencephalon development ( J:125109 )

• apoptotic activity is eliminated in dorsal midline of telencephalon in contrast to wild-type at E9.5; apoptosis is 7-fold lower than in wild-type

• at E10, proliferation in roof plate region is similar to adjacent tissues and higher than seen in wild-type whereas proliferation is differentially reduced in wild-type embryo roof plate region

• dorsal midline is severely hypoplastic and lacks conjunction of corpus callosum and septum

• increased proliferation and decreased apoptosis persists at E10.5

• telencephalon lacks middle anterior commissure and characteristic choroid plexuses and hippocampal structures that are seen in wild-type; telencephalon lacks well-formed U-shaped hippocampus and ventricles are separated by enlarged thalamus

abnormal corpus callosum morphology ( J:125109 )

• frequent agenesis of dorsal corpus callosum is seen

absent olfactory bulb ( J:125109 )

• mutants lack olfactory bulbs

abnormal embryonic/fetal subventricular zone morphology ( J:125109 )

• a third eminence in addition to LGE and MGE is observed in mutants at E12.5

abnormal lateral ganglionic eminence morphology ( J:125109 )

• eminence is expanded at expense of cortical domain of telencephalon

abnormal medial ganglionic eminence morphology ( J:125109 )

• eminence is expanded at expense of cortical domain of telencephalon

craniofacial

abnormal neurocranium morphology ( J:125109 )

• many embryos display bulging cranium

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate

digestive/alimentary system

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate

skeleton

abnormal neurocranium morphology ( J:125109 )

• many embryos display bulging cranium

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

limbs/digits/tail

polydactyly ( J:109101 )

• develop six to seven digits per limb with complete formation of digits 2-5 (preaxial polydactyly)

growth/size/body

abnormal maxillary shelf morphology ( J:125109 )

• the maxillary shelves are not fully mineralized in the mutant

palatal shelves fail to meet at midline ( J:125109 )

• palatal shelves fail to fuse; at E15.5, skeletal staining further shows the presence of widely separated palatal shelves

cleft secondary palate ( J:125109 )

• mutants have cleft secondary palate

Genotype
MGI:3693081

cn40

• Allelic Composition: Sall4^tm2Tre/Sall4^tm2.1Tre; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * CD-1

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:115635 )

embryo

embryonic growth arrest ( J:115635 )

• embryo development is arrested at the late primitive streak stage, before somite development

Genotype
MGI:3807221

cn41

• Allelic Composition: Fzd5^tm1Nat/Fzd5^tm2Nat; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * SJL

growth/size/body

decreased body size ( J:136390 )

• animals exhibit 15-20% reduction in body size and weight

decreased body weight ( J:136390 )

nervous system

abnormal thalamus morphology ( J:136390 )

• parafascicular nucleus (PFN) exhibits loss of 50% of all neurons, and nearly 100% of Fzd5-expressing neurons at 8 weeks

• neurons are present in normal numbers and show normal projections to the striatum at P1, then are gradually lost during the first postnatal month

behavior/neurological

impaired coordination ( J:136390 )

• mice consistently show compromised performance in rotarod tests compared to heterozygous controls

vision/eye

retina degeneration ( J:136390 )

• mice display slow retinal degeneration

Genotype
MGI:5470527

cn42

• Allelic Composition: Dag1^tm1Kcam/Dag1^tm2.1Kcam; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

nervous system

abnormal axon fasciculation ( J:194150 )

• mice exhibit abnormal formation of the descending hindbrain axonal tract and severe defasciculation of the spinal cord dorsal funiculus compared with wild-type mice

abnormal axon guidance ( J:194150 )

• mice exhibit abnormal formation of the descending hindbrain axonal tract and severe defasciculation of the spinal cord dorsal funiculus compared with wild-type mice

radial glial endfoot detachment ( J:194150 )

• endfoot detachment

abnormal spinal cord ventral commissure morphology ( J:194150 )

• at E11.5, commissural axons exhibit robust postcrossing trajectory defects with failure to project to the lateral portion of the funiculus and altered lateral and ventral funiculi ratio compared with wild-type mice

• at E13, a large number of commissural axons project abnormally within the floor plate unlike in wild-type mice

• at E13.5, mice exhibit extensive disruptions in more lateral aspect of the ventrolateral funiculus compared with wild-type mice

abnormal spinal cord dorsal column morphology ( J:194150 )

• mice exhibit abnormal formation of the descending hindbrain axonal tract and severe defasciculation of the spinal cord dorsal funiculus compared with wild-type mice

cellular

abnormal axon fasciculation ( J:194150 )

• mice exhibit abnormal formation of the descending hindbrain axonal tract and severe defasciculation of the spinal cord dorsal funiculus compared with wild-type mice

abnormal axon guidance ( J:194150 )

• mice exhibit abnormal formation of the descending hindbrain axonal tract and severe defasciculation of the spinal cord dorsal funiculus compared with wild-type mice

radial glial endfoot detachment ( J:194150 )

• endfoot detachment

abnormal basement membrane morphology ( J:194150 )

• at E11.5, mice exhibit progressive fragmentation of the basement membrane surrounding the spinal cord which is accompanied by detachment of radial neuroepithelial endfeet from the basal surface unlike wild-type mice

Genotype
MGI:5795747

cn43

• Allelic Composition: Pnkp^tm1.1Pmc/Pnkp^tm1.1Pmc; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

mortality/aging

embryonic lethality, complete penetrance ( J:226703 )

• early lethality, with no embryos recovered after E9

Genotype
MGI:7646892

cn44

• Allelic Composition: Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺; Hapstr1^tm1.1Menm/Hapstr1^tm1.2Menm; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA

mortality/aging

prenatal lethality, complete penetrance ( J:348964 )

Genotype
MGI:5620619

cn45

• Allelic Composition: Trim28^tm1.1Ipc/Trim28^tm1.2Ipc; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

embryo

embryo phenotype ( J:178936 )

N • embryos no normal yolk sac protrusions or trophoblast malformations

abnormal vitelline vasculature morphology ( J:178936 )

short rostral-caudal axis ( J:178936 )

embryonic growth arrest ( J:178936 )

• at E8.5

abnormal lateral plate mesoderm morphology ( J:178936 )

• shorter and wider than in control mice

wavy neural tube ( J:178936 )

nervous system

wavy neural tube ( J:178936 )

digestive/alimentary system

abnormal digestive system development ( J:178936 )

• failure of gut closure

cardiovascular system

abnormal vitelline vasculature morphology ( J:178936 )

Genotype
MGI:4360349

cn46

• Allelic Composition: Pak4^tm2.1Amin/Pak4^tm2.2Amin; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA * FVB/N

mortality/aging

preweaning lethality, complete penetrance ( J:152821 )

• no mice are recovered (no time point given)

embryo

embryonic growth retardation ( J:152821 )

abnormal placenta labyrinth morphology ( J:152821 )

• authors state that mice resemble Pak4^tm1Amin

abnormal visceral yolk sac morphology ( J:152821 )

• authors state that mice resemble Pak4^tm1Amin

growth/size/body

embryonic growth retardation ( J:152821 )

Genotype
MGI:4830326

cn47

• Allelic Composition: Trim33^tm1.1Los/Trim33^tm1.2Los; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA * SJL

mortality/aging

embryonic lethality, incomplete penetrance ( J:163858 )

• few embryos survive to E10

embryo

embryo phenotype ( J:163858 )

N • unlike in homozygous germline null mice, no defects are seen in the anterior visceral endoderm or the extraembryonic ectoderm

abnormal endoderm development ( J:163858 )

• expression analysis indicates an almost radial expansion of the definitive endoderm at E7.5

abnormal mesendoderm development ( J:163858 )

• duplications of anterior axial mesendoderm tissues

decreased embryo size ( J:163858 )

• seen in about 1/3 of embryos that also have a defect in primitive streak morphology

incomplete rostral neuropore closure ( J:163858 )

• at E10 the few surviving embryos display open neural folds

abnormal primitive node morphology ( J:163858 )

• expanded in surviving embryos at E8.0

• duplications of node tissues

abnormal primitive streak elongation ( J:163858 )

• about 1/3 of embryos lack an overtly elongated streak

nervous system

incomplete rostral neuropore closure ( J:163858 )

• at E10 the few surviving embryos display open neural folds

abnormal brain development ( J:163858 )

• at E10 the few surviving embryos display defective brain development

growth/size/body

decreased embryo size ( J:163858 )

• seen in about 1/3 of embryos that also have a defect in primitive streak morphology

Genotype
MGI:4456114

cn48

• Allelic Composition: Lama1^tm1Olf/Lama1^tm1Olf; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA * CD-1 * Swiss Webster

The inner limiting membrane does not form in Lama1^tm1Olf/Lama1^tm1Olf Edil3^{Tg(Sox2-cre)1Amc}/0 mice

mortality/aging

mortality/aging ( J:160722 )

N • normal lifespan

growth/size/body

decreased birth weight ( J:160722 )

• 13% reduction in birth weight, but by 8 weeks of age this weight difference is no longer observed

reproductive system

reproductive system phenotype ( J:160722 )

N • normal fertility

vision/eye

persistence of hyaloid vascular system ( J:160722 )

• the vitreal vessels remain endostatin positive throughout adulthood

macrophthalmia ( J:160722 )

• at 1 year of age eye diameters are 11% larger than those of controls

abnormal ocular fundus morphology ( J:160722 )

• ophthalmoscopy shows vitreal fibroplasia, vessel tortuosity, and retinal spots that are larger and more prominent than those in nmf223 homozygotes

abnormal retina vasculature morphology ( J:160722 )

• larger vessels lie within the vitreous and cover the entire retinal surface, and there is a lack of primary plexus veins and arteries within the retina

abnormal retina blood vessel morphology ( J:160722 )

• intermediate and deep vascular plexi are present in the retina but not as dense as those of nmf223 homozygotes

abnormal retina blood vessel pattern ( J:160722 )

abnormal Muller cell morphology ( J:160722 )

• Muller cells lacking end-feet with misguided and shortened processes are found

abnormal retina inner limiting membrane morphology ( J:160722 )

• the inner limiting membrane does not form properly

abnormal retina neuronal layer morphology ( J:160722 )

• peripheral loss of cells in the inner plexiform and both nuclear layers of the retina, which is more severe and has an earlier onset than that in nmf223 homozygotes

thin retina inner nuclear layer ( J:160722 )

thin retina inner plexiform layer ( J:160722 )

retina outer nuclear layer degeneration ( J:160722 )

retina spots ( J:160722 )

vitreal fibroplasia ( J:160722 )

cardiovascular system

abnormal retina vasculature morphology ( J:160722 )

• larger vessels lie within the vitreous and cover the entire retinal surface, and there is a lack of primary plexus veins and arteries within the retina

abnormal retina blood vessel morphology ( J:160722 )

• intermediate and deep vascular plexi are present in the retina but not as dense as those of nmf223 homozygotes

abnormal retina blood vessel pattern ( J:160722 )

nervous system

abnormal Muller cell morphology ( J:160722 )

• Muller cells lacking end-feet with misguided and shortened processes are found

Genotype
MGI:5050115

cn49

• Allelic Composition: Rac1^tm1Tyb/Rac1^tm2Tyb; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S4/SvJae * C3H * C57BL/6 * CBA

mortality/aging

prenatal lethality, complete penetrance ( J:166095 )

• survive longer than germ line null mice

• survive until E8.5

embryo

increased embryonic tissue cell apoptosis ( J:173526 )

• in the mesoderm and basal regions of the epiblast at E7.5

• at E6.5 and E7.5, cell death is increased in the anterior half of the embryo compared to the posterior half

abnormal developmental patterning ( J:173526 )

• expression analysis indicates organization of midline structures is abnormal

• the midline is broad at E8.5

abnormal mesoderm development ( J:173526 )

• mesoderm cells are specified but migration away from the primitive streak is impaired

• mesodermal cells are round, with just a few short protrusions

decreased embryo size ( J:173526 )

• the embryonic region is smaller compared to control littermates from E7.5 onwards

abnormal notochordal plate morphology ( J:173526 )

• expression analysis indicates the notochordal plate is wider and shorter at E7.75

abnormal neural tube closure ( J:173526 )

• the neural plate is present but fails to initiate neural tube closure

abnormal primitive streak morphology ( J:173526 )

• during epithelial to mesenchymal transition in the primitive streak breakdown of the basement membrane appears somewhat disrupted with large laminin aggregates seen on nascent mesodermal cells

• accumulation of T expressing cells in the primitive streak indicating an impairment in migration of cells away from the streak

abnormal primitive node morphology ( J:173526 )

• node cells are specified but fail to coalesce to form a normal node

impaired somite development ( J:173526 )

• properly organized somites do not form

cellular

abnormal cell adhesion ( J:173526 )

• cultured cells from E7.5 embryos fail to adhere to either fibronectin or Matrigel matrices

increased embryonic tissue cell apoptosis ( J:173526 )

• in the mesoderm and basal regions of the epiblast at E7.5

• at E6.5 and E7.5, cell death is increased in the anterior half of the embryo compared to the posterior half

decreased cell proliferation ( J:173526 )

• decrease in the mitotic index in E7.5 embryos

cardiovascular system

cardia bifida ( J:173526 )

growth/size/body

decreased embryo size ( J:173526 )

• the embryonic region is smaller compared to control littermates from E7.5 onwards

nervous system

abnormal neural tube closure ( J:173526 )

• the neural plate is present but fails to initiate neural tube closure

Genotype
MGI:3814711

cn50

• Allelic Composition: Trpm7^tm1Clph/Trpm7^tm1.1Clph; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

mortality/aging

embryonic lethality, complete penetrance ( J:140630 )

• no viable embryos were found, no time of lethality was provided

Genotype
MGI:5140923

cn51

• Allelic Composition: Pdgfrb^{tm12(Pdgfrb)Sor}/Pdgfrb⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

normal phenotype

no abnormal phenotype detected ( J:173602 )

• mice are viable and fertile

Genotype
MGI:5140925

cn52

• Allelic Composition: Pdgfrb^{tm13(Pdgfrb)Sor}/Pdgfrb⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:173602 )

• usually by P14

growth/size/body

postnatal growth retardation ( J:173602 )

• during the second week

cardiovascular system

increased aorta wall thickness ( J:173602 )

• during the second week, mice exhibit thickening of the ascending aorta media compared with wild-type mice

Genotype
MGI:6446753

cn53

• Allelic Composition: Yy1^tm1Yshi/Yy1^tm2.1Yshi; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

embryo

abnormal gastrulation ( J:186556 )

• at E7.0, Nodal is ectopically expressed throughout the posterior half of the epiblast, instead of being confined to the anterior streak as in control embryos; by E7.5, Nodal is expressed throughout the posterior epiblast and streak derivates instead of being confined to the node as in control embryos

• at E7.0, Foxa2 is properly localized to the anterior visceral endoderm (AVE) but is aberrantly expressed throughout distally located streak derived cells; by E7.5, Foxa2 is inappropriately expressed in a large swath of distally located streak derived cells

abnormal gastrulation movements ( J:186556 )

• embryonic to extraembryonic signaling is impaired, resulting in aberrant morphogenetic movements during gastrulation

abnormal endoderm development ( J:186556 )

• definitive endoderm (DE) is specified but fails to properly integrate into the outer layer; Hex-positive DE cells fail to intercalate into the visceral endoderm (VE)

abnormal mesoderm development ( J:186556 )

• although anterior neuroectoderm is specified, mesoderm production is severely restricted

• analysis of nascent mesoderm markers shows that Lefty2 and Fgf4 are completely absent at E7.5 while Snail and Fgf8 expression is markedly reduced with weak areas of expression confined to the distal-most mesoderm at E7.0

• pharmacological inhibition of Nodal signaling with SB505124 partially restores mesoderm production: in culture, SB505124-treated embryos show increased mesodermal-like streak derivatives, a slight increase in T expression, a marked increase in mesodermal marker transcripts (Tbx6, Twist1 and Snail), a reduction of Nodal, Cer1, Eomes and Foxa2, but no effect on the loss of Lefty2 or Fgf4, suggesting that both Nodal-dependent and Nodal-independent events contribute to the gastrulation defects

abnormal rostral-caudal axis patterning ( J:186556 )

• although expression of both Cer1 and Hex is properly localized to the anterior visceral endoderm (AVE) at E7.0, expression of both genes is significantly reduced, suggesting impaired embryonic (epiblast) to extraembryonic (AVE) signaling

• at E7.0, the Otx2 expression domain is reduced and fails to become anteriorly restricted; by E7.5 Otx2 is confined to a small population of distal epiblast cells

• however, Oct4 and Sox2 expression is normal at E7.0 and E7.5, indicating that neural specification is initiated

decreased embryo size ( J:186556 )

• embryos are smaller than controls at E6.5 and E7.0

absent head fold ( J:186556 )

• no head folds are present at E7.5

absent notochord ( J:186556 )

• no morphological notochord is present at E7.5

absent primitive node ( J:186556 )

• no morphological embryonic node is present at E7.5

abnormal primitive streak formation ( J:186556 )

• although embryos initiate gastrulation, both primitive streak (PS) formation and ingression through the streak is severely impaired

• at E7.5, a PS is present but shows a distinct accumulation of cells proximal to the streak, suggesting defects in epithelial to mesenchymal transition (EMT)

• PS derivatives fail to repress E-cadherin (CDH1) and migrate properly, unlike in wild-type embryos

• PS formation is compromised, as indicated by reduced brachyury (T) expression, loss of the mesoderm markers Lefty2, Snail and Fgf8, and excess extraembryonic and embryonic Bmp4 and Eomes

abnormal primitive streak elongation ( J:186556 )

• at E7.0, the expression domain of brachyury (T) is decreased relative to controls; by E7.5, T expression has failed to extend distally, consistent with a drastic reduction in overall streak size

abnormal extraembryonic tissue morphology ( J:186556 )

• E7.5 embryos exhibit an abnormal extraembryonic region

abnormal extraembryonic ectoderm morphology ( J:186556 )

• Eomes and Bmp4 are overexpressed in the distal extraembryonic ectoderm at E7.0 and E7.5, respectively, instead of being downregulated as in control embryos

abnormal visceral endoderm morphology ( J:186556 )

• at E7.5, a thickened HNF4A-positive visceral endoderm (VE) surrounds both the embryonic and extraembryonic tissues of the conceptus, unlike in control embryos where VE surrounds only the extraembryonic tissues, indicating an absence of the DE-mediated dispersal of VE

growth/size/body

decreased embryo size ( J:186556 )

• embryos are smaller than controls at E6.5 and E7.0

Genotype
MGI:5470168

cn54

• Allelic Composition: Zic3^tm2.1Jwb/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * CBA

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:192577 )

♂ • despite normal numbers at E15.5, fewer than expected mice at weaning

cardiovascular system

abnormal inferior vena cava morphology ( J:192577 )

♂ • separate entrance of hepatic veins in some mice

abnormal heart looping ( J:192577 )

♂ • in 5 of 32 mice at E9.5

abnormal direction of heart looping ( J:192577 )

♂ • sinisteral looping

atrial septal defect ( J:192577 )

♂ • in some mice

abnormal heart position or orientation ( J:192577 )

♂ • atrium isomerism in some mice

dextrocardia ( J:192577 )

♂ • in some mice

ventricular septal defect ( J:192577 )

♂ • in some mice

digestive/alimentary system

cleft palate ( J:192577 )

♂ • in 4 of 38 mice at E15.5

abnormal anus morphology ( J:192577 )

♂ • in some mice

abnormal stomach position or orientation ( J:192577 )

• midline and right-sided stomach in some mice

right-sided stomach ( J:192577 )

♂ • in some mice

embryo

abnormal embryo development ( J:192577 )

♂ • in some mice at E9.5

embryonic growth retardation ( J:192577 )

♂ • in 14 of 32 mice

abnormal neural tube morphology ( J:192577 )

♂ • in 4 of 38 mice at E15.5

growth/size/body

cleft palate ( J:192577 )

♂ • in 4 of 38 mice at E15.5

embryonic growth retardation ( J:192577 )

♂ • in 14 of 32 mice

heterotaxia ( J:192577 )

♂ • laterality defects in 2 of 8 mice

right-sided stomach ( J:192577 )

♂ • in some mice

nervous system

abnormal neural tube morphology ( J:192577 )

♂ • in 4 of 38 mice at E15.5

exencephaly ( J:192577 )

♂ • in 4 of 38 mice at E15.5

behavior/neurological

hindlimb paralysis ( J:192577 )

♂ • in some mice

vision/eye

abnormal eye morphology ( J:192577 )

♂ • in some mice

skeleton

abnormal axial skeleton morphology ( J:192577 )

♂ • in some mice

respiratory system

abnormal lung position or orientation ( J:192577 )

♂ • pulmonary isomerism in some mice

limbs/digits/tail

kinked tail ( J:192577 )

♂

craniofacial

cleft palate ( J:192577 )

♂ • in 4 of 38 mice at E15.5

Genotype
MGI:5562566

cn55

• Allelic Composition: Dab2^tm2.1Xxx/Dab2^tm2.2Xxx; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

mortality/aging ( J:205046 )

N • viable

homeostasis/metabolism

increased circulating cholesterol level ( J:205046 )

• serum total cholesterol level is slightly but consistently increased

increased circulating LDL cholesterol level ( J:205046 )

embryo

embryo phenotype ( J:205046 )

N • no gross developmental defects

Genotype
MGI:5140926

cn56

• Allelic Composition: Pdgfrb^{tm14(Pdgfrb)Sor}/Pdgfrb⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:173602 )

• usually by P14

cardiovascular system

abnormal ascending aorta morphology ( J:173602 )

• during the second week, mice exhibit thickening of the ascending aorta compared with wild-type mice

adipose tissue

adipose tissue phenotype ( J:173602 )

N • at P13, mice exhibit normal interscapular brown adipose tissue

abnormal inguinal fat pad morphology ( J:173602 )

• at P13, inguinal white adipose tissue contains reduced lipids but higher cell density compared to in wild-type mice

abnormal mesenteric fat pad morphology ( J:173602 )

• at P13, only rudimentary mesenteric adipose depots are detected compared to in wild-type mice

abnormal white adipose tissue morphology ( J:173602 )

• at P9, white adipose tissue exhibit a 1.5-fold increase in the stromal vascular fraction compared with wild-type tissue

abnormal white fat cell differentation ( J:173602 )

• subcutaneous mesenchymal cells exhibit reduced white adipocyte differentiation in vitro compared with wild-type cells

increased white fat cell number ( J:173602 )

• at P13, inguinal and subcutaneous white adipose tissues contain reduced lipids but higher cell density compared to in wild-type mice

abnormal hypodermis fat layer morphology ( J:173602 )

• at P13, subcutaneous white adipose tissue contains reduced lipids but higher cell density compared to in wild-type mice

growth/size/body

postnatal growth retardation ( J:173602 )

• during the second week

integument

abnormal hypodermis fat layer morphology ( J:173602 )

• at P13, subcutaneous white adipose tissue contains reduced lipids but higher cell density compared to in wild-type mice

cellular

abnormal white fat cell differentation ( J:173602 )

• subcutaneous mesenchymal cells exhibit reduced white adipocyte differentiation in vitro compared with wild-type cells

Genotype
MGI:4360982

cn57

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Wnk1)Clhu}/Gt(ROSA)26Sor⁺; Wnk1^{Gt(OST38262)Lex}/Wnk1^{Gt(OST38262)Lex}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6 * CBA

mortality/aging

embryonic lethality during organogenesis ( J:152906 )

• expression of Wnk1 in the somatic embryonic cells fails to rescue the phenotypes seen in Wnk1 null embryos

Genotype
MGI:5791934

cn58

• Allelic Composition: Gli3^tm1Alj/Gli3⁺; Tgif1^tm1Caw/Tgif1^tm1Caw; Tgif2^tm1Dwot/Tgif2^tm1Dwot; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * CBA

nervous system

abnormal forebrain development ( J:183402 )

• reduced Gli3 levels partially rescues ventral forebrain morphology observed in double mutants with less disorganization and partially separated cephalic folds

exencephaly ( J:183402 )

• in half of mice at E18.5

decreased embryonic neuroepithelial cell proliferation ( J:183402 )

• at E10.0

embryo

abnormal cephalic neural fold morphology ( J:183402 )

• partially separated cephalic folds

craniofacial

abnormal olfactory epithelium morphology ( J:183402 )

• partially rescued nasal field separation defect

growth/size/body

abnormal olfactory epithelium morphology ( J:183402 )

• partially rescued nasal field separation defect

respiratory system

abnormal olfactory epithelium morphology ( J:183402 )

• partially rescued nasal field separation defect

taste/olfaction

abnormal olfactory epithelium morphology ( J:183402 )

• partially rescued nasal field separation defect

Genotype
MGI:5896532

cn59

• Allelic Composition: Nsdhl^tm1.1Hrm/Nsdhl⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

integument

abnormal hair growth ( J:220990 )

♀ • patches of hairless skin

hyperkeratosis ( J:220990 )

♀ • patches of hyperkeratotic skin

growth/size/body

decreased body size ( J:220990 )

♀

skeleton

abnormal skeleton morphology ( J:220990 )

♀ • skeletal abnormalities

Genotype
MGI:5896533

cn60

• Allelic Composition: Nsdhl^tm1.1Hrm/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6N * CBA

growth/size/body

postnatal growth retardation ( J:220990 )

♂ • growth curve falls behind controls starting around P7

Genotype
MGI:5470277

cn61

• Allelic Composition: Gt(ROSA)26Sor^tm14Jhai/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

mortality/aging

mortality/aging ( J:194078 )

N • mice do not exhibit embryonic lethality

Genotype
MGI:5470271

cn62

• Allelic Composition: Gt(ROSA)26Sor^{tm8(Aifm1)Jhai}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

mortality/aging

mortality/aging ( J:194078 )

N • mice do not exhibit embryonic lethality

Genotype
MGI:5470268

cn63

• Allelic Composition: Gt(ROSA)26Sor^{tm6(Vegfa*)Jhai}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

mortality/aging

embryonic lethality ( J:194078 )

Genotype
MGI:5470272

cn64

• Allelic Composition: Gt(ROSA)26Sor^{tm9(Aifm1*)Jhai}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

mortality/aging

mortality/aging ( J:194078 )

N • mice do not exhibit embryonic lethality

Genotype
MGI:5470274

cn65

• Allelic Composition: Gt(ROSA)26Sor^{tm11(Gata3)Jhai}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

mortality/aging

mortality/aging ( J:194078 )

N • mice do not exhibit embryonic lethality

Genotype
MGI:5470273

cn66

• Allelic Composition: Gt(ROSA)26Sor^{tm10(Gata2)Jhai}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

mortality/aging

embryonic lethality ( J:194078 )

Genotype
MGI:5470264

cn67

• Allelic Composition: Gt(ROSA)26Sor^{tm4(Snai1)Jhai}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:194078 )

• around E10.5

embryo

abnormal embryo development ( J:194078 )

• severe developmental defects at E10.5

Genotype
MGI:5470265

cn68

• Allelic Composition: Gt(ROSA)26Sor^{tm3(Snai2)Jhai}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

mortality/aging

embryonic lethality ( J:194078 )

• variable

cardiovascular system

hemorrhage ( J:194078 )

• cephalic hemorrhage at E14.5

integument

pallor ( J:194078 )

• at E14.5

Genotype
MGI:5502197

cn69

• Allelic Composition: Gt(ROSA)26Sor^tm16Jhai/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

cellular

cellular phenotype ( J:195147 )

N • doxycycline-treated mouse embryonic fibroblasts or adult tail tip fibroblasts perform normally in embryoid body differentiation assays in terms of the formation of embryoid bodies, beating cardiomyocyes, sprouting vascular endothelial channels, or their hematopoietic differentiation potential

Genotype
MGI:5470266

cn70

• Allelic Composition: Gt(ROSA)26Sor^{tm5(CAG-Mdm4,-EGFP)Jhai}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr * CBA

normal phenotype

no abnormal phenotype detected ( J:194078 )

• mice are born in Mendelian ratios and show no overt phenotypes

Genotype
MGI:7442280

cn71

• Allelic Composition: Adgrg6^em2Jlp/Adgrg6^em2Jlp; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺; Gt(ROSA)26Sor^{tm1(ADGRG6)Jlp}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl * CBA

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:315981 )

• when the cre transgene is inherited maternally, embryos survive to birth, regardless of the presence of the Cre transgene

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

• when the cre transgene is inherited paternally, embryos do not survive past E13.5

nervous system

nervous system phenotype ( J:315981 )

N • when the cre transgene is inherited maternally, no PNS-related phenotypes are observed

Genotype
MGI:5294952

cn72

• Allelic Composition: Psip1^tm1Eng/Psip1^tm1Eng; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

cellular

abnormal cell physiology ( J:177408 )

• cells exhibit defective HIV-1 integration compared with wild-type cells

Genotype
MGI:5428021

cn73

• Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

Small size, flat face, hypomineralization, and distorted spine in Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi Edil3^{Tg(Sox2-cre)1Amc}/0 mice

reproductive system

female infertility ( J:185208 )

♀

male infertility ( J:185208 )

♂

skeleton

decreased chondrocyte apoptosis ( J:185208 )

• decrease in the percentage of apoptotic cells in the hypertrophic zone

decreased chondrocyte proliferation ( J:185208 )

• decrease in the absolute number of proliferating chondrocytes

abnormal skeleton morphology ( J:185208 )

• small skeleton

impaired osteoblast differentiation ( J:185208 )

• downregulation of markers of terminal differentiation at 3 weeks of age

small cranium ( J:185208 )

• at 1 week of age

abnormal limb long bone morphology ( J:185208 )

• appearance of more porous areas in both the outer and inner bone surfaces

abnormal long bone diaphysis morphology ( J:185208 )

• increase in porosity

• the diaphysis region of the tibia has more osteoid/hypomineralized areas in the cortical bone

abnormal long bone epiphyseal plate morphology ( J:185208 )

• malformed

abnormal long bone epiphyseal plate proliferative zone ( J:185208 )

• reduced in size

• decrease in the absolute number of proliferating chondrocytes

increased width of hypertrophic chondrocyte zone ( J:185208 )

abnormal vertebral column morphology ( J:185208 )

• distorted spine

decreased bone mineral density ( J:185208 )

• at 6 weeks of age

• significantly lower mineral Apparent Density and Material Density in the tibia midshaft region at 3 and 6 weeks of age

decreased compact bone thickness ( J:185208 )

abnormal osteocyte morphology ( J:185208 )

• appear immature

abnormal chondrocyte differentiation ( J:185208 )

• both early stage differentiation and late stage maturation are affected

decreased bone mineralization ( J:185208 )

• lower levels of mineralization at 5 months of age

• significantly lower mineral deposition rate

osteomalacia ( J:185208 )

rickets ( J:185208 )

• hypophosphatemic rickets

delayed bone ossification ( J:185208 )

• in the ribs, long bones, and carpus at 1 weeks of age

delayed endochondral bone ossification ( J:185208 )

• delay in secondary ossification centers in the epiphysis in the long bones and vertebrae at 6 weeks of age

delayed cranial suture closure ( J:185208 )

fragile skeleton ( J:185208 )

• multiple fractures are often seen after 3 weeks of age

craniofacial

small cranium ( J:185208 )

• at 1 week of age

flat face ( J:185208 )

short snout ( J:185208 )

growth/size/body

flat face ( J:185208 )

short snout ( J:185208 )

decreased body size ( J:185208 )

• smaller stature at 1 week of age

• prominent dwarfism at 4 weeks of age

decreased body weight ( J:185208 )

postnatal growth retardation ( J:185208 )

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:185208 )

• at 18 and 42 days of age

decreased circulating phosphate level ( J:185208 )

• at 18 and 42 days of age

abnormal circulating protein level ( J:185208 )

• increase in serum FGF23 levels at 18 and 42 days of age

abnormal vitamin D level ( J:185208 )

• the 1,25(OH)2D3 level is reduced at 18 days of age but not at 42 days of age

limbs/digits/tail

abnormal limb long bone morphology ( J:185208 )

• appearance of more porous areas in both the outer and inner bone surfaces

cellular

decreased chondrocyte apoptosis ( J:185208 )

• decrease in the percentage of apoptotic cells in the hypertrophic zone

impaired osteoblast differentiation ( J:185208 )

• downregulation of markers of terminal differentiation at 3 weeks of age

decreased chondrocyte proliferation ( J:185208 )

• decrease in the absolute number of proliferating chondrocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rickets		DOID:10609		J:185208

Genotype
MGI:5692456

cn74

• Allelic Composition: Eef1a1^tm1Tcrl/Eef1a1⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

embryo

open neural tube ( J:225273 )

• a high percentage of E12.5 embryos exhibit neural tube defects

spina bifida ( J:225273 )

• several E11.5 and E12.5 embryos exhibit spina bifida

mortality/aging

postnatal lethality, complete penetrance ( J:225273 )

• no pups survive beyond P14

lethality throughout fetal growth and development, incomplete penetrance ( J:225273 )

• fewer double heterozygous animals (4.6%) are produced than expected (25%) from a heterozygote x heterozygote mating

• a significant drop in viability occurs between E15.5 and birth

nervous system

open neural tube ( J:225273 )

• a high percentage of E12.5 embryos exhibit neural tube defects

spina bifida ( J:225273 )

• several E11.5 and E12.5 embryos exhibit spina bifida

holoprosencephaly ( J:225273 )

• several E11.5 and E12.5 embryos exhibit holoprosencephaly

Genotype
MGI:4360361

cn75

• Allelic Composition: Erbb3^tm1.1Dwt/Erbb3^tm2.1Dwt; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

mortality/aging

preweaning lethality, complete penetrance ( J:152703 )

• no mice were detected (no time of death given)

Genotype
MGI:3723508

cn76

• Allelic Composition: Esrrb^tm1.1Nat/Esrrb^tm1.2Nat; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL

behavior/neurological

absent startle reflex ( J:124941 )

• no auditory startle reflex

head bobbing ( J:124941 )

• observed beginning at several weeks of age

circling ( J:124941 )

• adults spin or run in circles

hearing/vestibular/ear

abnormal scala media morphology ( J:124941 )

• collapsed at 7 days of age

small scala media ( J:124941 )

• reduction in volume seen at 4 days of age

abnormal semicircular canal morphology ( J:124941 )

• narrowing of membranous labyrinths of the three semicircular canals is observed in postnatal animals

abnormal semicircular canal ampulla morphology ( J:124941 )

• flattening of ampullae is observed postnatally

decreased endolymph production ( J:124941 )

increased or absent threshold for auditory brainstem response ( J:124941 )

Genotype
MGI:5532401

cn77

• Allelic Composition: Ubr4^tm1.2Nkt/Ubr4^tm1.2Nkt; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA * SJL

Mild growth retardation and brain abnormalities in Ubr4^tm1.2Nkt/Ubr4^tm1.2Nkt Edil3^{Tg(Sox2-cre)1Amc}/0 embryos

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:203460 )

• despite being present at E12.5 and E13.5, no mice are present at E14.5

cardiovascular system

abnormal liver vasculature morphology ( J:203460 )

• dilated

dilated liver sinusoidal space ( J:203460 )

• increased empty spaces (hepatic sinusoids) at E12.5; sinusoids are very dilated at E13.5

abnormal heart development ( J:203460 )

• increased ventricle volume at E12.5 and E13.5

abnormal atrioventricular cushion morphology ( J:203460 )

• immature inferior atrioventricular endocardial cushion at E12

abnormal interventricular septum morphology ( J:203460 )

• immature at E12.5 and E13.5 with a large canal between left and right ventricle

thin ventricular wall ( J:203460 )

nervous system

abnormal brain morphology ( J:203460 )

• compressed especially in the posterior portion

• area between the ventricles and cephalic mesenchyme tissue is reduced compared to in control mice

decreased brain size ( J:203460 )

• at E13.5

abnormal fourth ventricle morphology ( J:203460 )

• mostly closed

abnormal lateral ganglionic eminence morphology ( J:203460 )

• severe cell death with cavitation in the lateral and medial ganglionic eminences, localized below the forebrain cortex

abnormal medial ganglionic eminence morphology ( J:203460 )

• severe cell death with cavitation in the lateral and medial ganglionic eminences, localized below the forebrain cortex

liver/biliary system

abnormal liver vasculature morphology ( J:203460 )

• dilated

dilated liver sinusoidal space ( J:203460 )

• increased empty spaces (hepatic sinusoids) at E12.5; sinusoids are very dilated at E13.5

abnormal liver parenchyma morphology ( J:203460 )

• less densely packed

liver hypoplasia ( J:203460 )

• at E12.5

embryo

embryo phenotype ( J:203460 )

N • mice exhibit normal labyrinth layer structure and blood vessels of the labyrinth layer

embryonic growth retardation ( J:203460 )

• mild at E12.5

growth/size/body

embryonic growth retardation ( J:203460 )

• mild at E12.5

abnormal head morphology ( J:203460 )

• bulges sticking up from the middle of the head at E12.5 and more evident at E13.5

cellular

abnormal cell death ( J:203460 )

• severe cell death with cavitation in the lateral and medial ganglionic eminences, localized below the forebrain cortex

increased cell proliferation ( J:203460 )

• in the heart at E13.5 without an increase in apoptosis

Genotype
MGI:5473267

cn78

• Allelic Composition: E2f7^tm1Gle/E2f7^tm1Gle; E2f8^tm1Gle/E2f8^tm1Gle; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

mortality/aging

neonatal lethality ( J:183999 )

• embryos are recovered at every embryonic stage examined, and are born live, but most die within the first postnatal day

embryo

embryo phenotype ( J:183999 )

N • double mutants with wild-type (Sox2-cre E2f7^fl/- E28^fl/-) placentas appear normal at E10.5 and lack the developmental phenotypes in double null embryos

N • Note: Sox2-cre is expressed only in the inner cell mass with no extraembronic tissue expression so the placentas are normal

N • however, embryos rescued from lethality during development die within a few days of birth

abnormal embryonic tissue morphology ( J:183999 )

• significant numbers of apoptotic cells are detected in branchial arches and somites at E10.5

respiratory system

abnormal respiratory system morphology ( J:183999 )

• significant ectopic proliferation and apoptosis of pulmonary cells is observed in lungs at P1, but lungs do not appear overtly hypoplastic

Genotype
MGI:5050118

cn79

• Allelic Composition: Pten^tm1Ppp/Pten⁺; Rac1^tm1Tyb/Rac1^tm2Tyb; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/Sv * C3H * C57BL/6 * CBA

embryo

abnormal embryo development ( J:173526 )

• embryo morphology is stated to be indistinguishable from that of mutant mice wild-type for Pten

cellular

abnormal apoptosis ( J:173526 )

• cell death is reduced compared to mutant mice wild-type for Pten

Genotype
MGI:3775735

cn80

• Allelic Composition: Eomes^tm1Rob/Eomes^tm1.1Rob; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA

embryo

abnormal endoderm development ( J:131055 )

• specification of the definitive endoderm is disrupted

abnormal visceral endoderm morphology ( J:131055 )

• visceral endoderm fails to displace proximally at E7.5

Genotype
MGI:6274368

cn81

• Allelic Composition: Tlk2^tm1.1Strc/Tlk2^tm1.2Strc; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C3H * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:268910 )

• viable with similar growth capacity and no increase in morbidity at up to 18 months of age

Genotype
MGI:3056367

cn82

• Allelic Composition: Nodal^tm1Rob/Nodal^tm5Rob; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6

embryo

abnormal developmental patterning ( J:93140 )

abnormal germ layer development ( J:93140 )

absent mesoderm ( J:93140 )

• lacked mesoderm at gastrulation

abnormal distal visceral endoderm morphology ( J:93140 )

• thickened distal visceral endoderm

Genotype
MGI:4437426

cn83

• Allelic Composition: Nodal^tm1Rob/Nodal⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺; Tgif1^tm1Caw/Tgif1^tm1Caw; Tgif2^tm1Dwot/Tgif2^tm1Dwot
• Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6J * CBA

nervous system

abnormal embryonic neuroepithelium morphology ( J:183402 )

• reduced Nodal levels partially rescues ventral neurepithelium morphogenesis observed in double mutants with disorganized neuroepithelium

abnormal forebrain development ( J:183402 )

• reduced Nodal levels partially rescues ventral forebrain morphology observed in double mutants with less disorganization and larger size

• however, forebrain cell proliferation is restored

holoprosencephaly ( J:183402 )

• in mice that survive to E18.5

decreased forebrain size ( J:183402 )

• in two-thirds of mice

embryo

abnormal left-right axis patterning ( J:157256 )

• expression analysis suggests there are some mild defects in left right patterning

rostral body truncation ( J:183402 )

• severe anterior truncation in a small proportion of mice

embryonic growth retardation ( J:183402 )

• in 2 embryos with severe anterior truncation

abnormal embryonic neuroepithelium morphology ( J:183402 )

• reduced Nodal levels partially rescues ventral neurepithelium morphogenesis observed in double mutants with disorganized neuroepithelium

growth/size/body

embryonic growth retardation ( J:183402 )

• in 2 embryos with severe anterior truncation

cardiovascular system

cardiovascular system phenotype ( J:157256 )

N • unlike in double null mice wild-type for Nodal, heart looping morphogenesis is normal

Genotype
MGI:4437424

cn84

• Allelic Composition: Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺; Tgif1^tm1Caw/Tgif1^tm1Caw; Tgif2^tm1Dwot/Tgif2^tm1Dwot
• Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6J * CBA

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:157256 )

• present until E10.5

embryonic lethality during organogenesis, incomplete penetrance ( J:183402 )

• most mice do not survive beyond E11.0

nervous system

decreased embryonic neuroepithelium thickness ( J:183402 )

• without any indication of ventral morphology

incomplete rostral neuropore closure ( J:183402 )

• midbrain neural tube fails to close at E9.25

abnormal forebrain morphology ( J:183402 )

• at E10.0

• however, mice exhibit normal forebrain size and morphology at E9.0

abnormal forebrain development ( J:183402 )

• single thickened layer of surface ectoderm in the ventral forebrain and the nasal field has not separated by E10.0

decreased forebrain size ( J:183402 )

decreased embryonic neuroepithelial cell proliferation ( J:183402 )

• at E9.0 and more so at E10.0

embryo

abnormal left-right axis patterning ( J:157256 )

• bilateral expression of normally unilateral genes is seen in the lateral plate mesoderm at E8.5

abnormal cephalic neural fold morphology ( J:183402 )

• fused ventral lips at E8.25

decreased embryonic neuroepithelium thickness ( J:183402 )

• without any indication of ventral morphology

incomplete rostral neuropore closure ( J:183402 )

• midbrain neural tube fails to close at E9.25

abnormal primitive streak elongation ( J:157256 )

• immunofluorescence and immunohistochemical studies suggest AP axis has been specified, and the primitive streak has been induced, but fails to elongate

growth/size/body

abnormal olfactory epithelium morphology ( J:183402 )

• single field

proboscis ( J:183402 )

• in one of the two surviving embryos at E12.5

heterotaxia ( J:183402 )

• left-right asymmetry

respiratory system

abnormal olfactory epithelium morphology ( J:183402 )

• single field

taste/olfaction

abnormal olfactory epithelium morphology ( J:183402 )

• single field

vision/eye

abnormal optic vesicle formation ( J:183402 )

• single small pigmented eye field vesicle

cyclopia ( J:183402 )

• in the two surviving embryos at E12.5

cardiovascular system

abnormal heart looping ( J:157256 )

• in 24% the heart loop has extended dorsoventrally

abnormal direction of heart looping ( J:157256 )

• 35% have a reversal (right to left) of looping direction

failure of heart looping ( J:157256 )

• in about a quarter of embryos the heart extends without looping

craniofacial

abnormal olfactory epithelium morphology ( J:183402 )

• single field

proboscis ( J:183402 )

• in one of the two surviving embryos at E12.5

cellular

increased apoptosis ( J:183402 )

• in the forebrain at E10.0

Genotype
MGI:5699420

cn85

• Allelic Composition: Lhx1^tm1Bhr/Lhx1^tm2.1Rob; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N * CBA

cardiovascular system

abnormal heart morphology ( J:226614 )

• by E9.5, mice exhibit cardiac defects including abnormal looping, expanded pericardium and cardia bifida compared with wild-type mice

abnormal heart looping ( J:226614 )

cardia bifida ( J:226614 )

enlarged pericardium ( J:226614 )

• expanded pericardium

embryo

abnormal endoderm development ( J:226614 )

• reduced anterior endoderm

embryonic growth retardation ( J:226614 )

• by E10.5

abnormal primitive node morphology ( J:226614 )

• thickened distal tip with a local out-pocketing of cells on the surface of the distal tip

nervous system

abnormal nervous system development ( J:226614 )

• reduced neural tissue

cellular

cellular necrosis ( J:226614 )

• necrotic embryos by E10.5

growth/size/body

embryonic growth retardation ( J:226614 )

• by E10.5

Genotype
MGI:4399139

cn86

• Allelic Composition: Eomes^tm1Rob/Eomes^tm2.1Rob; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

Eomes^tm1Rob/Eomes^tm2.1Rob Edil3^{Tg(Sox2-cre)1Amc}/0 embryos fail to form the mesoderm cell layer and are blocked in gastrulation

embryo

failure to gastrulate ( J:154785 )

• mice are blocked in gastrulation

abnormal embryonic epiblast morphology ( J:154785 )

• epiblast cells fails to undergo the epithelial to mesenchyme transition and to form a distinctive mesodermal cell layer unlike in wild-type mice

abnormal primitive streak morphology ( J:154785 )

• unlike in wild-type mice, the primitive streak is populated by nascent mesoderm

Genotype
MGI:3775733

cn87

• Allelic Composition: Eomes^tm1Rob/Eomes^tm1.1Rob; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

embryo

abnormal embryonic epiblast morphology ( J:131055 )

• by late headfold stages, embryos have multiple cystic epiblast invaginations and completely lack a discrete mesoderm layer

absent mesoderm ( J:131055 )

• at E7.5, there is complete absence of mesodermal cells between the visceral endoderm and the epiblast

abnormal primitive streak morphology ( J:131055 )

• mutant embryos display abnormal thickening of the primitive streak at E7.0, resulting in an abnormal embryo shape

• there is accumulation of cells with mesenchymal morphology in the primitive streak

Genotype
MGI:3775737

cn88

• Allelic Composition: Eomes^tm1Rob/Eomes⁺; Nodal^tm1Rob/Nodal⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

mortality/aging

prenatal lethality ( J:131055 )

• severely affected embryos are not recovered

embryo

rostral body truncation ( J:131055 )

• embryos with anterior axis truncations are recovered at low frequency

Genotype
MGI:6515777

cn89

• Allelic Composition: Sppl3^tm1Itl/Sppl3^tm1Itl; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA

mortality/aging

neonatal lethality, incomplete penetrance ( J:280182 )

• although mice are born in expected Mendelian ratios, a substantial proportion of mice die of undetermined causes shortly after birth

postnatal lethality, incomplete penetrance ( J:280182 )

• only about 10% survive to weaning

growth/size/body

decreased birth body size ( J:280182 )

Genotype
MGI:2668417

cn90

• Allelic Composition: Smad2^tm1Rob/Smad2^tm2Rob; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA * CD-1

embryo

abnormal rostral-caudal axis patterning ( J:84300 )

• at E8.5, rostral neurectoderm tissue is reduced in size

• at E9.5, anterior neurectoderm fails to proliferate and is filled with pyknotic nuclei

abnormal anterior definitive endoderm morphology ( J:84300 )

• there are reduced numbers of anterior definitive endoderm (ADE) cells

digestive/alimentary system

truncated foregut ( J:84300 )

• gut tube forms but is poorly elaborated in anterior region; instead of extending to level of Rathke's pouch like wild-type, no gut tissue is evident at this level in mutants and is absent anterior to level of heart

cardiovascular system

abnormal heart looping ( J:84300 )

• heart tube is abnormally looped

pericardial edema ( J:84300 )

• pericardium is often edematous

enlarged pericardium ( J:84300 )

• pericardium is often enlarged

nervous system

absent midbrain ( J:84300 )

• embryos lack all prospective midbrain tissue

absent forebrain ( J:84300 )

• embryos lack all prospective forebrain tissue

homeostasis/metabolism

pericardial edema ( J:84300 )

• pericardium is often edematous

Genotype
MGI:3714923

cn91

• Allelic Composition: Map2k1^tm1Chrn/Map2k1^tm1.1Chrn; Edil3^{Tg(Sox2-cre)1Amc}/?
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA * FVB/N

reproductive system

reproductive system phenotype ( J:112223 )

N • mice are fertile

Genotype
MGI:3624716

cn92

• Allelic Composition: Smad4^tm1Rob/Smad4^tm1.1Rob; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S/SvEv * CD-1

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:92066 )

• at E9.5, mutant embryos show significant degeneration; no mutants are recovered at E10

embryo

abnormal dorsal-ventral axis patterning ( J:92066 )

• at E8.5, mutants shave a flattened ventral surface with no visible fore- or hindgut formation and caudally displaced bulbous neural tissue

abnormal rostral-caudal axis patterning ( J:92066 )

• after E7, the anterior-posterior axis is broadened

• at E7.5 and early head fold stages, embryo adopts and elongated and distorted 'boot-shaped' morphology; mutants show rudimentary anterior neural development with no visible headfolds and recognizable foregut invagination

abnormal rhombomere morphology ( J:92066 )

• mutant embryos exhibit abnormal rhombomere morphology

fused somites ( J:92066 )

• somites form, but are fused across the midline

abnormal allantois morphology ( J:92066 )

• all mutants show an allantois-like outgrowth of variable size and in 70% of the cases associates with the stalk-like chorionic ectoderm while in the remaining embryos, the allantois terminates blindly in the exocoelomic cavity

nervous system

abnormal hindbrain development ( J:92066 )

• mutant embryos exhibit abnormal hindbrain development

abnormal rhombomere morphology ( J:92066 )

• mutant embryos exhibit abnormal rhombomere morphology

reproductive system

absent primordial germ cells ( J:92066 )

• most embryos lack primordial germ cells which form at the base of the primordial allantois

digestive/alimentary system

absent foregut ( J:92066 )

• no visible formation of foregut at E8.5

absent hindgut ( J:92066 )

• no visible formation of hindgut at E8.5

cellular

absent primordial germ cells ( J:92066 )

• most embryos lack primordial germ cells which form at the base of the primordial allantois

Genotype
MGI:3689505

cn93

• Allelic Composition: Smad2^tm1Rob/Smad2^tm2Rob; Smad3^tm1Xfw/Smad3⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129/Sv * 129S/SvEv * C57BL/6 * CBA * CD-1

embryo

rostral body truncation ( J:84300 )

• embryos develop severe anterior truncations at E8.5

fused somites ( J:84300 )

• somites are fused across the midline at E8.5

digestive/alimentary system

absent foregut ( J:84300 )

• anterior gut is absent

cardiovascular system

abnormal heart development ( J:84300 )

• embryos develop heart malformations at E8.5

Genotype
MGI:3513053

cn94

• Allelic Composition: Disp1^icb/Disp1^icb; Shh^tm1Amc/Shh^tm5Amc; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * SWR

mortality/aging

perinatal lethality, complete penetrance ( J:94270 )

• compound mutants die around birth unlike Disp1 single homozygotes which die before E9.5

craniofacial

abnormal frontonasal prominence morphology ( J:94270 )

• midline defects in the frontal nasal process are seen, however many of the developmental defects seen in Disp1 single homozygotes are rescued in the compound mutants

Genotype
MGI:5698047

cn95

• Allelic Composition: Evc2^tm2.1Mis/Evc2^tm2.1Mis; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

growth/size/body

disproportionate dwarf ( J:226455 )

• disproportionally shorter forelimbs and hindlimbs are seen

Genotype
MGI:3793499

cn96

• Allelic Composition: Wnt7b^tm2Amc/Wnt7b^tm2.1Amc; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:134483 )

• mice die within hours of birth

respiratory system

lung hemorrhage ( J:134483 )

abnormal lung development ( J:134483 )

• lung epithelial and mesenchyme tip cell progenitors exhibit decreased replication compared to in wild-type mice

• however, normal cell differentiation and patterning are preserved

decreased mesenchymal cell proliferation involved in lung development ( J:134483 )

• mesenchyme tip cell progenitors exhibit decreased replication compared to in wild-type mice

thin lung-associated mesenchyme ( J:134483 )

• the lung mesenchyme is thinner than in wild-type mice

abnormal right lung middle lobe morphology ( J:134483 )

• the medial lobe bronchus of the right lung emanates from the cephalic lobe bronchus, unlike in wild-type mice

• however, the correct number of lobes is formed

small lung ( J:134483 )

• at E12.5

decreased lung weight ( J:134483 )

• lung weight is 50% of wild-type at E18.5 and 25% of wild-type at E14.5

atelectasis ( J:134483 )

• lungs are poorly inflated

abnormal tracheal cartilage morphology ( J:134483 )

• cartilaginous rings are incomplete

homeostasis/metabolism

cyanosis ( J:134483 )

• after birth mice become cyanotic despite chest wall movements

renal/urinary system

increased kidney apoptosis ( J:142685 )

• at E17.5, a marked increase in the rate of apoptosis is seen in distal collecting duct epithelial cells

abnormal kidney cell proliferation ( J:142685 )

• at E15.5, the majority of cells in the collecting duct divide along the radial axis unlike in controls where the majority of cells divide along the longitudinal axis

decreased kidney cell proliferation ( J:142685 )

• cell proliferation in the loop of Henle is significantly reduced

abnormal kidney morphology ( J:142685 )

• renal corpuscles abut the renal pelvis

• despite the absence of the medulla, kidneys are similar in size to controls

abnormal kidney collecting duct epithelium morphology ( J:142685 )

• at E15.5, the majority of cells in the collecting duct divide along the radial axis unlike in controls where the majority of cells divide along the longitudinal axis

• at E17.5, a marked increase in the rate of apoptosis is seen in distal collecting duct epithelial cells

abnormal kidney medulla development ( J:142685 )

• at E15.5 and E16.5, the nascent medulla is absent indicating a failure to initiate medulla formation

absent kidney medulla ( J:142685 )

• absent at E18.5

truncated loop of Henle ( J:142685 )

• at E18.5 the loop of Henle is truncated resembling morphology at an earlier stage prior to loop elongation

• cell proliferation in the loop of Henle is significantly reduced

hydroureter ( J:142685 )

• at E18.5, less than a third of mice show hydroureter like swelling of the pelvic region

skeleton

abnormal tracheal cartilage morphology ( J:134483 )

• cartilaginous rings are incomplete

cardiovascular system

lung hemorrhage ( J:134483 )

cellular

increased kidney apoptosis ( J:142685 )

• at E17.5, a marked increase in the rate of apoptosis is seen in distal collecting duct epithelial cells

abnormal kidney cell proliferation ( J:142685 )

• at E15.5, the majority of cells in the collecting duct divide along the radial axis unlike in controls where the majority of cells divide along the longitudinal axis

decreased kidney cell proliferation ( J:142685 )

• cell proliferation in the loop of Henle is significantly reduced

decreased mesenchymal cell proliferation involved in lung development ( J:134483 )

• mesenchyme tip cell progenitors exhibit decreased replication compared to in wild-type mice

Genotype
MGI:3801167

cn97

• Allelic Composition: Fzr1^tm1Mama/Fzr1^tm1.1Mama; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: BALB/cJ * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:137456 )

N • mice survive up to P3

embryo

embryo phenotype ( J:137456 )

N • mice survive embryogenesis with normal placentas and trophoblast cells

Genotype
MGI:5476766

cn98

• Allelic Composition: Nuggc^tm1Diaz/Nuggc^tm1Diaz; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA

hematopoietic system

abnormal somatic hypermutation frequency ( J:190402 )

• Peyer's patch B cells exhibit increased mutation frequency (G to C transitions) at JH4 downstream regions at immunoglobulin and non-immunoglobulin loci compared with wild-type cells

immune system

immune system phenotype ( J:190402 )

N • mice exhibit normal B cell development, germinal center formation and class switch recombination

abnormal somatic hypermutation frequency ( J:190402 )

• Peyer's patch B cells exhibit increased mutation frequency (G to C transitions) at JH4 downstream regions at immunoglobulin and non-immunoglobulin loci compared with wild-type cells

Genotype
MGI:6456931

cn99

• Allelic Composition: Chd3^tm1.1Cya/Chd3^tm1.1Cya; Edil3^{Tg(Sox2-cre)1Amc}/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA

mortality/aging

embryonic lethality, incomplete penetrance ( J:294633 )

• fewer than expected homozygous offspring are born

reproductive system

reproductive system phenotype ( J:294633 )

N • fertile

Genotype
MGI:7646887

cn100

• Allelic Composition: Hapstr1^tm1.1Menm/Hapstr1^tm1.2Menm; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:348964 )

• die between E15 - E18.5

• present with no obvious abnormalities at E11.5

growth/size/body

decreased fetal size ( J:348964 )

• embryos present at E14.5 are smaller than littermates

cellular

decreased fibroblast proliferation ( J:348964 )

• proliferation is similar to controls shortly after plating but quickly drops off resulting in a 22-fold overall reduction in replicative potential

• knockdown of Trp53 expression partially rescues replication

Genotype
MGI:6489568

cn101

• Allelic Composition: Ankmy2^{tm1a(EUCOMM)Hmgu}/Ankmy2^{tm1a(EUCOMM)Hmgu}; Edil3^{Tg(Sox2-cre)1Amc}/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA

embryo

abnormal embryonic neuroepithelial layer differentiation ( J:297055 )

• ventralized neural tube in E9.5 embryos (ventral cell types ectopically specified at expense of lateral and dorsal types) throughout rostrocaudal extent of spinal cord and hindbrain

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:297055 )

• embryos are arrested at 1012 somite stage (E8.5)

nervous system

abnormal embryonic neuroepithelial layer differentiation ( J:297055 )

• ventralized neural tube in E9.5 embryos (ventral cell types ectopically specified at expense of lateral and dorsal types) throughout rostrocaudal extent of spinal cord and hindbrain

Genotype
MGI:5702327

cn102

• Allelic Composition: Ctsd^tm1.1Thre/Ctsd^tm1.1Thre; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

mortality/aging

premature death ( J:227618 )

• mice die at P26

nervous system

gliosis ( J:227618 )

• at P26

microgliosis ( J:227618 )

• at P26

astrocytosis ( J:227618 )

• at P26

neuron degeneration ( J:227618 )

• severe loss of neurons in the thalamic region and hippocampus at P26

growth/size/body

decreased body weight ( J:227618 )

• from P15 onward

• mice weigh half as much as littermate controls at P24

weight loss ( J:227618 )

• after P17

digestive/alimentary system

decreased small intestinal villus height ( J:227618 )

• at P26, mice exhibit shortening of small intestinal villi compared with wild-type mice

small intestinal villus atrophy ( J:227618 )

• at P26, mice exhibit atrophy of small intestinal villi compared with wild-type mice

endocrine/exocrine glands

thymus atrophy ( J:227618 )

• at P26

hematopoietic system

thymus atrophy ( J:227618 )

• at P26

decreased double-positive T cell number ( J:227618 )

• at P26

• however, numbers are normal at P14

microgliosis ( J:227618 )

• at P26

immune system

thymus atrophy ( J:227618 )

• at P26

decreased double-positive T cell number ( J:227618 )

• at P26

• however, numbers are normal at P14

microgliosis ( J:227618 )

• at P26

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 10		DOID:0110725	OMIM:610127	J:227618

Genotype
MGI:4441466

cn103

• Allelic Composition: Enpp2^tm1Vart/Enpp2^tm1Vart; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

embryonic lethality ( J:159118 )

Genotype
MGI:5901761

cn104

• Allelic Composition: Hcfc1^tm1Lwh/Hcfc1⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

cellular

increased apoptosis ( J:231596 )

♀ • in E7.5 embryos with maternally inherited conditional knockout allele

decreased cell proliferation ( J:231596 )

♀ • reduced presence of cell proliferation markers in E7.5 embryos with maternally inherited conditional knockout allele

embryo

abnormal embryo morphology ( J:231596 )

♀ • of E7.5 embryos with maternally inherited conditional knockout allele

decreased embryo size ( J:231596 )

♀ • of E7.5 embryos with maternally inherited conditional knockout allele

abnormal extraembryonic tissue morphology ( J:231596 )

♀

growth/size/body

decreased embryo size ( J:231596 )

♀ • of E7.5 embryos with maternally inherited conditional knockout allele

decreased lean body mass ( J:231596 )

♀ • in females with a maternally inherited conditional knockout allele

decreased body length ( J:231596 )

♀ • in females with maternally inherited conditional knockout allele

mortality/aging

embryonic lethality prior to organogenesis ( J:231596 )

♀ • no female embryos with maternally inherited conditional knockout allele found at E7.5

embryonic lethality, complete penetrance ( J:231596 )

♀ • no females born with maternally inherited conditional knockout allele

♀ • females with paternally inherited conditional knockout allele viable

Genotype
MGI:6120561

cn105

• Allelic Composition: Gt(ROSA)26Sor^{tm1.1(DUX4*)Plj}/Gt(ROSA)26Sor⁺; Edil3^{Tg(Sox2-cre)1Amc}/0
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

embryonic lethality, complete penetrance ( J:256652 )

Genotype
MGI:7442279

cn106

• Allelic Composition: Adgrg6^em3Jlp/Adgrg6^em3Jlp; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:315981 )

• when the cre transgene is inherited paternally, 73% of embryos are viable past E13.5 and 64% survive to birth

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

• when the cre transgene is inherited maternally, embryos do not survive past E13.5

growth/size/body

decreased body size ( J:315981 )

• when the cre transgene is inherited paternally, pups exhibit a marked reduction in overall size at P1

skeleton

joint contracture ( J:315981 )

• when the cre transgene is inherited paternally, pups exhibit stiff joint contractures in the forelimbs and hindlimbs at P1

cardiovascular system

small heart ( J:315981 )

• when the cre transgene is inherited paternally, hearts are smaller but otherwise structurally normal at P1; no morphological cardiac defects are noted at E16.5

Genotype
MGI:5896626

cn107

• Allelic Composition: Slc13a4^{tm1c(EUCOMM)Wtsi}/Slc13a4^{tm1d(EUCOMM)Wtsi}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

mortality/aging ( J:239786 )

N • with paternal inheritance of the cre transgene mice are viable

lethality throughout fetal growth and development, complete penetrance ( J:239786 )

• with maternal inheritance of the cre transgene these mice phenocopy mice homozygous for Slc13a4 ^{tm1a(EUCOMM)Wtsi}

embryo

embryo phenotype ( J:239786 )

N • with paternal inheritance of the cre transgene restricting cre expression to the embryo and not the extraembryonic tissues, placental transport of sulfate is similar to controls and embryos resemble controls

Genotype
MGI:5288515

cn108

• Allelic Composition: Mapk14^tm2Nbr/Mapk14^{tm3.1(Mapk11)Nbr}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

postnatal lethality, incomplete penetrance ( J:176023 )

• about 30% of mice survive to adulthood

Genotype
MGI:5649032

cn109

• Allelic Composition: Prickle1^tm1.2Asw/Prickle1^tm1.3Asw; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

integument

abnormal hair follicle development ( J:213772 )

• mice exhibit midline hair follicle development defects at P3

abnormal hair follicle orientation ( J:213772 )

• mice exhibit midline hair follicle orientation defects at P3

Genotype
MGI:5649031

cn110

• Allelic Composition: Prickle1^tm1.3Asw/Prickle1^tm1.3Asw; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:213772 )

• mice survive until around P4

Genotype
MGI:5476839

cn111

• Allelic Composition: Zic3^tm1.1Smwa/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

embryo

abnormal gastrulation ( J:194989 )

♂ • gastrulation defects

abnormal neural tube morphology ( J:194989 )

♂ • neural tube defects

cardiovascular system

abnormal heart morphology ( J:194989 )

♂ • heart defects

abnormal heart looping ( J:194989 )

♂

nervous system

abnormal neural tube morphology ( J:194989 )

♂ • neural tube defects

Genotype
MGI:5901762

cn112

• Allelic Composition: Hcfc1^tm1Lwh/Hcfc1^tm1Lwh; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

cellular

increased apoptosis ( J:231596 )

♀ • in E7.5 embryos

decreased cell proliferation ( J:231596 )

♀ • reduced presence of cell proliferation markers in E7.5 embryos

embryo

abnormal embryo morphology ( J:231596 )

♀ • of E7.5 embryos

decreased embryo size ( J:231596 )

♀ • of E7.5 embryos

abnormal extraembryonic tissue morphology ( J:231596 )

♀

growth/size/body

decreased embryo size ( J:231596 )

♀ • of E7.5 embryos

mortality/aging

embryonic lethality prior to organogenesis ( J:231596 )

♀ • no female embryos found at E7.5

embryonic lethality, complete penetrance ( J:231596 )

♀ • no females born

Genotype
MGI:5901759

cn113

• Allelic Composition: Hcfc1^tm1Lwh/Y; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA

embryo

decreased embryo size ( J:231596 )

♂ • at E9.5 male embryos much smaller in size and morphologically abnormal

growth/size/body

decreased embryo size ( J:231596 )

♂ • at E9.5 male embryos much smaller in size and morphologically abnormal

mortality/aging

embryonic lethality prior to organogenesis ( J:231596 )

♂ • male embryos died between E5.5 and E9.5

♂ • at E12.5 male embryos found at resorption sites

embryonic lethality, complete penetrance ( J:231596 )

♂ • no males born

Genotype
MGI:3723632

cn114

• Allelic Composition: Foxp2^tm1Sfis/Foxp2^tm1.2Sfis; Edil3^{Tg(Sox2-cre)1Amc}/?
• Genetic Background: involves: C57BL/6 * CBA * SJL

mortality/aging

lethality at weaning, complete penetrance ( J:125023 )

• mice die around P21

behavior/neurological

impaired righting response ( J:125023 )

nervous system

reduced cerebellar foliation ( J:125023 )

• cerebellum foliation is reduced

small cerebellum ( J:125023 )

vision/eye

delayed eyelid opening ( J:125023 )

• mice exhibit delayed eye opening compared to wild-type mice

growth/size/body

decreased body weight ( J:125023 )

Genotype
MGI:7408228

cn115

• Allelic Composition: Orc1^tm1.1Gle/Orc1^tm1.2Gle; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA * SJL

mortality/aging

embryonic lethality, complete penetrance ( J:272584 )

• no live mice are recovered at E10.5 or at 2 weeks of age

Genotype
MGI:3801166

cn116

• Allelic Composition: Fzr1^tm1Mama/Fzr1^tm1Mama; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * CBA * SJL

mortality/aging

mortality/aging ( J:137456 )

N • mice survive up to P3

embryo

embryo phenotype ( J:137456 )

N • mice survive embryogenesis with normal placentas and trophoblast cells

Genotype
MGI:6403992

cn117

• Allelic Composition: Prdm15^{tm1c(EUCOMM)Wtsi}/Prdm15^{tm1c(EUCOMM)Wtsi}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N
• Cell Lines: EPD0114_3_G01

mortality/aging

prenatal lethality, complete penetrance ( J:285408 )

• embryos die in utero starting at E12.5; only 16.7% of embryos are obtained at E12.5 with no live embryos recovered at P0

growth/size/body

decreased embryo size ( J:285408 )

embryo

decreased embryo size ( J:285408 )

nervous system

abnormal brain morphology ( J:285408 )

• at E12.5, embryos exhibit a spectrum of brain malformations affecting primarily the anteriormost structures similar to those observed in Prdm15^{tm1a(EUCOMM)Wtsi} homozygotes

Genotype
MGI:5796348

cn118

• Allelic Composition: Commd9^{tm1c(KOMP)Wtsi}/Commd9^{tm1c(KOMP)Wtsi}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0136_6_D10

mortality/aging

prenatal lethality, complete penetrance ( J:230747 )

• no viable mice are observed at birth; time of lethality is not specified

Genotype
MGI:6841001

cn119

• Allelic Composition: Arhgef7^{tm1c(EUCOMM)Wtsi}/Arhgef7^{tm1c(EUCOMM)Wtsi}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6N * CBA

embryo

embryo phenotype ( J:217373 )

N • mice exhibit a single primitive streak

Genotype
MGI:6121353

cn120

• Allelic Composition: Strip1^{tm1b(KOMP)Wtsi}/Strip1^{tm1c(KOMP)Wtsi}; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6N * CBA * FVB/NJ * SJL
• Cell Lines: EPD0316_1_G03

embryo

embryo phenotype ( J:251816 )

N • unlike Strip1 ^cin homozygotes, mice do not exhibit the constriction around the embryonic and extraembryonic tissue boundary, defects in cell proliferation, and organization and polarity of neural and epithelium

abnormal mesoderm development ( J:251816 )

• nascent mesoderm fails to move away from the primitive streak and accumulates in the midline ridge

short rostral-caudal axis ( J:251816 )

• extremely shortened anterior-posterior axis lacking a trunk section at E8.5

abnormal head fold morphology ( J:251816 )

cardiovascular system

cardia bifida ( J:251816 )

Genotype
MGI:5464113

cn121

• Allelic Composition: Vps52^tm1.1Kab/Vps52^tm1.2Kab; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL * C57BL/6 * CBA * DBA

mortality/aging

embryonic lethality ( J:190873 )

embryo

abnormal vitelline vasculature morphology ( J:190873 )

• vascular congestion is detected in the yolk sac at E8.5

disorganized yolk sac vascular plexus ( J:190873 )

• severe disruption of normal vascular patterning during yolk sac vasculogenesis

abnormal embryonic tissue morphology ( J:190873 )

• at E9.5 the rostral half of the embryo is formed almost normally but development of the caudal half is retarded

cardiovascular system

abnormal vitelline vasculature morphology ( J:190873 )

• vascular congestion is detected in the yolk sac at E8.5

disorganized yolk sac vascular plexus ( J:190873 )

• severe disruption of normal vascular patterning during yolk sac vasculogenesis