Phenotypes associated with this allele

• Allele Symbol: H2az2^{Tg(Wnt1-cre)11Rth}
• Allele Name: transgene insertion 11, David H Rowitch
• Allele ID: MGI:2386570
• Summary: 243 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	129S4.Cg-Fgfr1^tm5.1Sor Fgfr1^tm10.1Sor H2az2^Tg(Wnt1-cre)11Rth	MGI:5882546
cn2	Fgfr1^tm5.1Sor/Fgfr1^tm9.1Sor H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	129S4.Cg-Fgfr1^tm5.1Sor Fgfr1^tm9.1Sor H2az2^Tg(Wnt1-cre)11Rth	MGI:5882544
cn3	Fgfr1^tm5.1Sor/Fgfr1^tm5.1Sor H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	129S4.Cg-Fgfr1^tm5.1Sor H2az2^Tg(Wnt1-cre)11Rth	MGI:5882528
cn4	Ext1^tm1Yama/Ext1^tm1Yama H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	B6.Cg-H2az2^Tg(Wnt1-cre)11Rth Ext1^tm1Yama	MGI:4360747
cn5	Smc3^tm1.1Toshi/Smc3^tm1.1Toshi H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	B6.Cg-H2az2^Tg(Wnt1-cre)11Rth Smc3^tm1.1Toshi	MGI:7489843
cn6	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Ptpn11^tm1.1Rbns/Ptpn11^tm1.1Rbns H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	B6.Cg-Ptpn11^tm1.1Rbns Gt(ROSA)26Sor^tm1Sor H2az2^Tg(Wnt1-cre)11Rth	MGI:3852467
cn7	Ptpn11^tm1.1Rbns/Ptpn11^tm1.1Rbns H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	B6.Cg-Ptpn11^tm1.1Rbns H2az2^Tg(Wnt1-cre)11Rth	MGI:3852466
cn8	Ext1^tm1Yama/Ext1^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tgfb2^tm1Doe/Tgfb2^+	B6.Cg-Tgfb2^tm1Doe H2az2^Tg(Wnt1-cre)11Rth Ext1^tm1Yama	MGI:4360749
cn9	Chd7^Gt(XK403)Byg/Chd7^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	either: (involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA/J) or (involves: 129P2/OlaHsd * C57BL/6J * CBA/J * CD-1)	MGI:4410359
cn10	Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	either: (involves: 129S/SvEv * C57BL/6 * CBA) or (involves: 129S/SvEv * C57BL/6 * CBA * CD-1)	MGI:3611573
cn11	Tbx1^tm2.1Bem/Tbx1^tm2.1Bem H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	either: (involves: 129/Sv * C57BL/6 * C57BL/6J * CBA/J * SJL) or (involves: 129/Sv * C57BL/6J * CBA/J * CD-1 * SJL)	MGI:4410368
cn12	Lmo4^tm1Sho/Lmo4^tm1Sho H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	either: (involves: 129/Sv * CD-1) or (involves: 129/Sv * C57BL/6)	MGI:3035941
cn13	Mrgprd^tm1Mjz/? Ret^tm1Ddg/Ret^tm1Ddg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * 129S1/Sv * C57BL/6 * C57BL/6J * CBA/J	MGI:4413446
cn14	Mfn2^tm1Dcc/Mfn2^tm3Dcc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * 129S4/SvJaeSor * Black Swiss	MGI:3779094
cn15	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Sox11^tm1.1Vlf/Sox11^tm1.1Vlf Sox4^tm1Vlf/Sox4^tm1Vlf H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * C57BL/6J * CBA/J	MGI:5285375
cn16	Ret^tm1Ddg/Ret^tm1Ddg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * C57BL/6J * CBA/J	MGI:4413445
cn17	Hdac2^tm1.1Eno/Hdac2^tm1.1Eno H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA	MGI:3851919
cn18	Hdac1^tm1.1Eno/Hdac1^tm1.1Eno H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA	MGI:3851918
cn19	Hdac8^tm1.1Eno/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA * CD-1	MGI:3851920
cn20	Ctnnb1^tm2Kem/Ctnnb1^tm3Kba Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA/J	MGI:5308956
cn21	Ctnnb1^tm2Kem/Ctnnb1^tm2Kem Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA/J	MGI:5308958
cn22	Dicer1^tm1Bdh/Dicer1^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA/J	MGI:4868201
cn23	Dicer1^tm1Bdh/Dicer1^tm1Bdh H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA/J	MGI:4868120
cn24	Ctnnb1^tm2Kem/Ctnnb1^tm2Kem H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA/J	MGI:5308955
cn25	Ctnnb1^tm2Kem/Ctnnb1^tm3Kba H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA/J	MGI:5308953
cn26	Cited2^tm1Bha/Cited2^tm2Bha H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6 * CBA * SJL	MGI:3804086
cn27	Hs2st1^tm1.1Je/Hs2st1^tm1.1Je Hs6st1^tm1Wvc/Hs6st1^tm1Wvc Hs6st2^tm1Lex/Hs6st2^tm1Lex H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129 * C57BL/6J * CBA/J	MGI:5430387
cn28	Mapt^tm2Arbr/? Runx1^tm3Spe/Runx1^tm3Spe H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J * CBA/J	MGI:5702481
cn29	Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor Stat3^tm2Aki/Stat3^tm2Aki H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * 129S4/SvJaeSor	MGI:5882547
cn30	Stat3^tm2Aki/Stat3^tm2Aki H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * 129S4/SvJaeSor	MGI:5882548
cn31	Cbfb^tm2.1Ddg/Cbfb^tm2.1Ddg Mapt^tm2Arbr/? H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:5702479
cn32	Pbx1^tm1Koss/Pbx1^tm1Koss Pbx2^tm1Mlc/Pbx2^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * 129S/Sv * C57BL/6J * CBA/J	MGI:5305927
cn33	Nrg1^tm4Cbm/Nrg1^tm4.1Cbm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * BALB/cJ * C57BL/6J * CBA/J	MGI:5524256
cn34	Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL * SJL/J	MGI:4365544
cn35	Gja1^tm1Kwi/Gja1^tm1Kwi H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3653215
cn36	Pkd1^tm3Jzh/Pkd1^tm3Jzh H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3811608
cn37	Braf^tm1Wds/Braf^tm1Wds Raf1^tm2Bacc/Raf1^tm2Bacc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6J * CBA/J	MGI:5659950
cn38	Mrtfb^Gt(RRJ478)Byg/Mrtfb^Gt(RRJ478)Byg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6J * CBA/J	MGI:3697616
cn39	Gt(ROSA)26Sor^tm2(DTA)Riet/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6J * CBA/J	MGI:4438212
cn40	Hic2^Gt(E225A08)1.1Wrst/Hic2^Gt(E225A08)1.1Wrst H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * C57BL/6J * CBA/J	MGI:5707466
cn41	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Nipbl^Gt(EUCE313f02)1.1Hmgu/Nipbl^+	involves: 129P2/OlaHsd * C57BL/6J * CBA/J * CD-1	MGI:7492235
cn42	Ezh2^tm2Sho/Ezh2^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo	involves: 129S1/Sv * 129S4/SvJae * C57BL/6J * CBA/J	MGI:7338996
cn43	Pitx2^tm1.1Sac/Pitx2^tm2Sac H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Gt(ROSA)26Sor^tm1Sor/?	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA	MGI:5298219
cn44	Fgf15^tm1Sms/Fgf15^tm1Sms Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA	MGI:3639491
cn45	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Hhat^Tg(TFAP2A-cre)1Will/Hhat^Tg(TFAP2A-cre)1Will H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA	MGI:5447985
cn46	Gt(ROSA)26Sor^tm2Sho/Gt(ROSA)26Sor^+ Sp8^tm1Smb/Sp8^tm1Smb H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J	MGI:7355998
cn47	Bmp2^tm1Jfm/Bmp2^tm1Jfm Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J	MGI:7367250
cn48	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J	MGI:7339121
cn49	Ednrb^tm1Nrd/Ednrb^tm1Nrd Gt(ROSA)26Sor^tm14(CAG-tdTomato)Hze/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * CBA/J	MGI:5896991
cn50	Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem Gt(ROSA)26Sor^tm1(Ctnnb1)Kem/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5440183
cn51	Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem Gt(ROSA)26Sor^tm1(Ctnnb1)Kem/Gt(ROSA)26Sor^tm1(Ctnnb1)Kem H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5440182
cn52	Hand2^tm1Cse/Hand2^tm1Dsr H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3848967
cn53	Hand2^tm1Cse/Hand2^tm1Cse H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3715254
cn54	Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Srsf3^tm1Pjln/Srsf3^tm1Pjln	involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6J * CBA/J	MGI:7346394
cn55	Mapk1^tm1Gela/Mapk1^tm1Gela H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * CBA/J	MGI:5902457
cn56	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3702775
cn57	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^tm2(Pax3)Joe H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3804318
cn58	Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3804321
cn59	Acvr1^tm1Vk/Acvr1^tm1.1Vk H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3697607
cn60	Nf1^tm1Par/Nf1^tm1Par H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3710237
cn61	Pygo2^tm1.1Ssp/Pygo2^tm1.2Ssp H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3711498
cn62	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Isl1^tm2Sev/Isl1^tm2Sev H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3817490
cn63	Tgfbr2^tm1Karl/Tgfbr2^tm1Karl H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3623411
cn64	Gata6^tm2Msp/Gata6^tm2Msp H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3623951
cn65	Pygo2^tm1.1Ssp/Pygo2^tm1.2Ssp H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Pax6-cre,GFP)1Pgr/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * FVB	MGI:3711516
cn66	Fgfr1^tm1Jpa/Fgfr1^tm1.1Jpa H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * ICR	MGI:3703447
cn67	Fgfr1^tm2Jrt/Fgfr1^tm2Jrt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * ICR	MGI:3703441
cn68	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * ICR	MGI:3703442
cn69	Ednrb^tm1Nrd/Ednrb^tm1Nrd Gt(ROSA)26Sor^tm1(EYFP)Cos/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J	MGI:3814191
cn70	Nubp2^tm1c(EUCOMM)Hmgu/Nubp2^tm1c(EUCOMM)Hmgu Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J	MGI:6452819
cn71	Alx1^em1Jian/Alx1^em1Jian Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * CBA/J	MGI:7336693
cn72	Pax3^tm2Joe/Pax3^tm2Joe H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:4442469
cn73	Kif3a^tm2Gsn/Kif3a^tm2Gsn H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:4443124
cn74	Ndst1^tm1Grob/Ndst1^tm1Grob H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:4943277
cn75	Ndst1^tm1Grob/Ndst1^tm1Grob Ndst2^tm1Lkj/Ndst2^tm1Lkj H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5430386
cn76	Dph1^tm1.1Cmch/Dph1^tm1.1Cmch H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5659973
cn77	Dph1^tm1.1Cmch/Dph1^tm1.1Cmch Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5659974
cn78	Mapk1^tm1Gela/Mapk1^tm1Gela H2az2^Tg(Wnt1-cre)11Rth/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5660194
cn79	Mapk1^tm1Gela/Mapk1^tm1Gela Mapk3^tm1Gela/Mapk3^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5660196
cn80	Mapk1^tm1Gela/Mapk1^tm1Gela Mapk3^tm1Gela/Mapk3^tm1Gela H2az2^Tg(Wnt1-cre)11Rth/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:5660197
cn81	Tfap2b^tm1Rbu/Tfap2b^tm2Will H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:6152756
cn82	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Piga^tm1Tak/Y	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:6342278
cn83	Fgfr1^tm1Jpa/Fgfr1^tm1Jpa H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:7339125
cn84	Has2^tm1.1Chg/Has2^tm1.1Chg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:7380333
cn85	Sp8^tm1Smb/Sp8^tm2Smb H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J	MGI:7437666
cn86	Porcn^tm1.1Lcm/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1	MGI:6368186
cn87	Porcn^tm1.1Lcm/Porcn^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(rx3-icre)1Mjam/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1	MGI:6368187
cn88	Porcn^tm1.1Lcm/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1	MGI:6368185
cn89	Snai1^tm1Grid/Snai1^tm2Grid H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * C57BL/6 * CBA	MGI:3715215
cn90	Jag1^tm2Grid/Jag1^tm2Grid H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * C57BL/6 * CBA	MGI:5318528
cn91	Zfpm2^tm1Sho/Zfpm2^tm2Sho H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * C57BL/6 * CBA	MGI:3851405
cn92	Snai1^tm1Grid/Snai1^tm2Grid Snai2^tm2Grid/Snai2^tm2Grid H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * C57BL/6 * CBA	MGI:3715216
cn93	Bcor^tm1.1Vjba/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * C57BL/6J * CBA/J	MGI:7343897
cn94	Hand2^tm1Cse/Hand2^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/Sv * C57BL/6J * CBA/J	MGI:4417976
cn95	Hand2^tm1.1Majh/Hand2^tm1.1Majh H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S1/SvImJ * C57BL/6J * CBA/J * DBA/2	MGI:3804452
cn96	Nfatc1^tm1Glm/Nfatc1^tm1Glm Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * CBA	MGI:5432553
cn97	Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL	MGI:5698653
cn98	Mau2^tm1.1Hpt/Mau2^tm1.1Hpt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL	MGI:5698674
cn99	Mau2^tm1.1Hpt/Mau2^tm1.1Hpt Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL	MGI:5698685
cn100	Mau2^tm1.1Hpt/Mau2^tm1.1Hpt Nipbl^tm1.1Hpt/Nipbl^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL	MGI:5698689
cn101	Bdnf^tm1Krj/Bdnf^tm1Lfr H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * CBA	MGI:3584263
cn102	Pax9^tm1.1Hpt/Pax9^tm1.1Hpt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * CBA * SJL	MGI:3723641
cn103	Phox2a^tm2.1Jbr/Phox2a^tm2.1Jbr H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6J * CBA/J	MGI:4438209
cn104	Phox2b^tm3.1Jbr/Phox2b^tm3.1Jbr H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6J * CBA/J	MGI:4438210
cn105	Ngfr^tm1.1Vk/Ngfr^tm1.1Vk H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6J * CBA/J * FVB/N	MGI:5301302
cn106	Mirc35^tm1.1Pern/Mirc35^tm1.1Pern H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6N * CBA/J	MGI:7539727
cn107	Hoxa2^tm1.1Fmr/Hoxa2^tm1.1Fmr H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5491198
cn108	Gt(ROSA)26Sor^tm7(SMO*/YFP)Amc/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA * Swiss Webster	MGI:4839958
cn109	Rest^tm1.1Yasu/Rest^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * CBA/J	MGI:6241489
cn110	Rest^tm1.1Yasu/Rest^tm1.1Yasu H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * CBA/J	MGI:6241488
cn111	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Rest^tm1.1Yasu/Rest^tm1.1Yasu H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * CBA/J	MGI:6241534
cn112	Rest^tm1.1Yasu/Rest^tm1.1Yasu H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Dct-lacZ)A12Jkn/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:6241535
cn113	Flna^tm1.1Caw/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3699953
cn114	Rest^tm1.1Yasu/Rest^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Dct-lacZ)A12Jkn/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:6241536
cn115	Col1a1^tm1(tetO-EWSR1/ATF1)Yasu/Col1a1^+ Gt(ROSA)26Sor^tm1(rtTA*M2)Jae/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(CAG-cat,-lacZ)11Miya/0	involves: 129S4/SvJae * C57BL/6 * CBA/J * DBA/2	MGI:5485200
cn116	Bmpr2^tm1.1Enl/Bmpr2^tm1.2Enl H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6J * CBA/J	MGI:5558941
cn117	Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6J * CBA/J	MGI:7338976
cn118	Tfrc^tm3.1Nca/Tfrc^tm3.1Nca H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6J * CBA/J	MGI:7339041
cn119	Ror1^tm1.1Meg/Ror1^tm1.1Meg Ror2^tm1.1Meg/Ror2^tm1.1Meg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6J * CBA/J	MGI:5315491
cn120	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Msx2^tm1Rilm/Msx2^tm1Rilm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJae * C57BL/6J * CBA/J	MGI:5427701
cn121	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Mef2c^tm1Eno/Mef2c^tm1Jjs H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:6209743
cn122	Myc^tm2Fwa/Myc^tm2Fwa Gt(ROSA)26Sor^tm1Sor/? H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * CBA	MGI:3720325
cn123	Ugdh^tm1.1Xzh/Ugdh^tm1.1Xzh H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * CBA/J	MGI:5430383
cn124	Kras^tm4Tyj/Kras^tm4Tyj Ugdh^tm1.1Xzh/Ugdh^tm1.1Xzh H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * CBA/J	MGI:5430385
cn125	Ugdh^tm1.1Xzh/Ugdh^tm1.1Xzh H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Pax6-HRAS*G12V)2044Ove/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * CBA/J * FVB/N	MGI:5430384
cn126	Pomt2^tm1.1Hhu/Pomt2^tm1.1Hhu H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:5302859
cn127	Zic3^tm2.1Jwb/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:5470170
cn128	Smo^tm2Amc/Smo^tm2.1Amc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+	involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J	MGI:4843924
cn129	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Pgap2^clpex/Pgap2^clpex	involves: 129S4/SvJaeSor * A/J * C57BL/6J * CBA/J	MGI:6342276
cn130	Efnb1^tm1Sor/Efnb1^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6 * CBA	MGI:3719104
cn131	Bmp2^tm1Jfm/Bmp2^+ Bmp4^tm1Jfm/Bmp4^tm1Jfm Bmp7^tm1Jfm/Bmp7^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312871
cn132	Bmp2^tm1Jfm/Bmp2^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:7367239
cn133	Bmp2^tm1Jfm/Bmp2^tm1Jfm Bmp4^tm1Jfm/Bmp4^+ Bmp7^tm1Jfm/Bmp7^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312870
cn134	Bmp2^tm1Jfm/Bmp2^+ Bmp4^tm1Jfm/Bmp4^+ Bmp7^tm1Jfm/Bmp7^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312869
cn135	Bmp2^tm1Jfm/Bmp2^tm1Jfm Bmp4^tm1Jfm/Bmp4^tm1Jfm Bmp7^tm1Jfm/Bmp7^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312868
cn136	Bmp4^tm1Jfm/Bmp4^tm1Jfm Bmp7^tm1Jfm/Bmp7^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312867
cn137	Adam22^tm1.1Mejr/Adam22^tm1.1Mejr H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:4441314
cn138	Lgi4^tm1.1Jrb/Lgi4^tm1.1Jrb H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:4441318
cn139	Bmp2^tm1Jfm/Bmp2^+ Bmp4^tm1Jfm/Bmp4^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312866
cn140	Arid1a^tm1.1Mag/Arid1a^tm1.1Mag Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5784731
cn141	Bmp2^tm1Jfm/Bmp2^tm1Jfm Bmp4^tm1Jfm/Bmp4^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312864
cn142	Bmp2^tm1Jfm/Bmp2^+ Bmp4^tm1Jfm/Bmp4^tm1Jfm Bmp7^tm1Jfm/Bmp7^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312874
cn143	Bmp2^tm1Jfm/Bmp2^tm1Jfm Bmp4^tm1Jfm/Bmp4^+ Bmp7^tm1Jfm/Bmp7^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312873
cn144	Bmp2^tm1Jfm/Bmp2^tm1Jfm Bmp4^tm1Jfm/Bmp4^tm1Jfm Bmp7^tm1Jfm/Bmp7^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312875
cn145	Bmp4^tm1Jfm/Bmp4^tm1Jfm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312863
cn146	Bmp2^tm1Jfm/Bmp2^tm1Jfm Bmp4^tm1Jfm/Bmp4^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S4/SvJaeSor * C57BL/6J * CBA/J	MGI:5312865
cn147	Wnt5a^tm1Amc/Wnt5a^tm1.1Krvl H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * CBA/J	MGI:5605991
cn148	Mef2c^tm1Eno/Mef2c^tm1Jjs H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:6209712
cn149	Myc^tm2Fwa/Myc^tm2Fwa H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3720189
cn150	Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3623395
cn151	Foxd3^tm2Lby/Foxd3^tm3Lby H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3806465
cn152	Myc^tm2Fwa/Myc^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3720194
cn153	Zfpm1^tm4Sho/Zfpm1^tm4Sho H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3586444
cn154	Ptpn11^tm6Bgn/Ptpn11^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6 * CBA/J	MGI:3840256
cn155	Ywhae^tm2.1Awb/Ywhae^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:6267036
cn156	Ywhae^tm2.1Awb/Ywhae^+ Ywhaz^Gt(OST432062)Lex/Ywhaz^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:6267030
cn157	Ywhae^tm2.1Awb/Ywhae^tm2.1Awb H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:6267034
cn158	Ywhae^tm2.1Awb/Ywhae^tm2.1Awb Ywhaz^Gt(OST432062)Lex/Ywhaz^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:6267035
cn159	Ywhae^tm2.1Awb/Ywhae^+ Ywhaz^Gt(OST432062)Lex/Ywhaz^Gt(OST432062)Lex H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:6267027
cn160	Ywhae^tm2.1Awb/Ywhae^tm2.1Awb Ywhaz^Gt(OST432062)Lex/Ywhaz^Gt(OST432062)Lex H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:6267026
cn161	Bmp7^tm1.1Dgra/Bmp7^tm1.1Dgra H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac * CBA/J	MGI:6509439
cn162	Men1^tm1.2Ctre/Men1^tm1.2Ctre H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:7344038
cn163	Cbfb^tm2.1Ddg/Cbfb^tm2.1Ddg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:5702482
cn164	Stk11^tm1.1Rdp/Stk11^tm1.1Rdp H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:6711690
cn165	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Meis2^tm1.1Zkoz/Meis2^tm1.1Zkoz	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:7335064
cn166	Gt(ROSA)26Sor^tm3(CAG-Shox2)Fawa/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Meis2^tm1.1Zkoz/Meis2^tm1.1Zkoz	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:7335081
cn167	Srf^tm1Rmn/Srf^tm1Rmn H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:5659953
cn168	Gnas^tm5.1Lsw/Gnas^tm5.1Lsw H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:7367344
cn169	Megf8^tm1.2Ddg/Megf8^tm1.2Ddg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:5558940
cn170	Wls^tm1.1Whsu/Wls^tm1.1Whsu H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S6/SvEvTac * C57BL/6J * CBA/J	MGI:4881721
cn171	Sox9^tm2Crm/Sox9^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3718125
cn172	Sox9^tm2Crm/Sox9^tm2Crm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3718120
cn173	Rere^tm1Dsco/Rere^tm1Dsco H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:7343556
cn174	Hprt1^tm2(Pgk1-Pac/TK)Brd/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3772558
cn175	Lmx1b^tm1Rjo/Lmx1b^tm1Zfc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3697386
cn176	Hprt1^tm2(Pgk1-Pac/TK)Brd/Hprt1^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3772559
cn177	Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:4818571
cn178	Fkbp1a^tm1.1Shou/Fkbp1a^tm1Zuk H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:5490240
cn179	Hoxa3^tm1Mrc/Hoxa3^tm3.1Nrm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S7/SvEvBrd * C57BL/6J * CBA/J	MGI:4461312
cn180	Dvl3^tm1Awb/Dvl3^tm1Awb Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S/Sv * Black Swiss * C57BL/6J * CBA/J	MGI:3831922
cn181	Dph1^tm2Bhr/Dph1^+ Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * CBA/J	MGI:5659976
cn182	Dph1^tm2Bhr/Dph1^tm2Bhr Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * CBA/J	MGI:5659977
cn183	Plxnd1^tm1.1Tmj/Plxnd1^tm1.1Tmj H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * CBA/J	MGI:3848822
cn184	Plxnd1^tm1Ddg/Plxnd1^tm1.1Tmj H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S/SvEv * C57BL/6 * C57BL/6J * CBA/J	MGI:3848832
cn185	Plxnd1^tm1Ddg/Plxnd1^tm1.1Tmj H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S/SvEv * C57BL/6J * CBA/J	MGI:5550533
cn186	Wls^tm1.1Lan/Wls^tm1.1Lan H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S/SvEv * C57BL/6J * CBA/J * SJL	MGI:4838405
cn187	Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6 * CBA	MGI:2674120
cn188	Myocd^tm1Msp/Myocd^tm1Msp H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6 * CBA	MGI:3797650
cn189	Gt(ROSA)26Sor^tm1(PDGFRA*)Hsc/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6 * CBA	MGI:3835760
cn190	Nf1^tm1Par/Nf1^tm1Tyj H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6 * CBA	MGI:3776056
cn191	Bhlhe22^tm2.1Meg/Bhlhe22^tm2.1Meg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6J * CBA/J	MGI:4440902
cn192	Hoxa2^tm1.1Fmr/Hoxa2^tm1.1Fmr H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6J * CBA/J	MGI:4415143
cn193	Prmt1^tm1Rchd/Prmt1^tm1Rchd H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6J * CBA/J	MGI:7378837
cn194	Bmp4^tm2(tetO-Bmp4,lacZ)Jfm/Bmp4^+ Gt(ROSA)26Sor^tm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6J * CBA/J	MGI:5312862
cn195	Gja1^tm1Gfi/Gja1^tm1Gfi H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6J * CBA/J * FVB/N	MGI:3652904
cn196	Map2k1^tm1Chrn/Map2k1^tm1Chrn Map2k2^tm1Chrn/Map2k2^tm1Chrn H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6J * CBA/J * SJL	MGI:5659952
cn197	Rarb^tm2Ipc/Rarb^tm2Ipc Rarg^tm3Ipc/Rarg^tm3Ipc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129/Sv * C57BL/6 * SJL	MGI:3620540
cn198	Notch1^tm2Rko/Notch1^tm2Rko H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:5318530
cn199	Ctnnb1^tm1Mmt/Ctnnb1^tm1Mmt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:3773283
cn200	Fgfr2^tm1Dor/Fgfr2^tm1Dor H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:4943276
cn201	Smo^tm2Amc/Smo^tm2.1Amc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:4843923
cn202	Gt(ROSA)26Sor^tm1(Smo/EYFP)Amc/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:4843925
cn203	Gt(ROSA)26Sor^tm1(Smo/EYFP)Amc/? H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:3716199
cn204	Hmx1^tm1.1Arte/Hmx1^tm1.1Arte H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: BALB/c * C57BL/6J * CBA/J	MGI:5515738
cn205	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Srsf3^tm1Pjln/Srsf3^tm1Pjln	involves: BALB/c * C57BL/6J * CBA/J	MGI:7346377
cn206	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(CAG-Otx2,-EGFP)1Eno/?	involves: C3H * C57BL/6	MGI:3851922
cn207	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(CAG-Lhx,-EGFP)1Eno/?	involves: C3H * C57BL/6	MGI:3851921
cn208	Hoxa3^tm2Nrm/Hoxa3^tm3.1Nrm H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C3H * C57BL/6 * CBA/J	MGI:4461313
cn209	Nubp2^tm1c(EUCOMM)Hmgu/Nubp2^tm1c(EUCOMM)Hmgu H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: C57BL/6	MGI:6450919
cn210	Pdgfra^tm8Sor/Pdgfra^tm8Sor Pdgfrb^tm1Mdt/Pdgfrb^tm1Mdt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6 * CBA	MGI:3715096
cn211	Pdgfra^tm8Sor/Pdgfra^tm8Sor H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6 * CBA	MGI:3715094
cn212	Pdgfrb^tm1Mdt/Pdgfrb^tm1Mdt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6 * CBA	MGI:3715095
cn213	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Memo1^tm1c(EUCOMM)Wtsi/Memo1^tm1c(EUCOMM)Wtsi	involves: C57BL/6 * CBA/J * SJL	MGI:7464191
cn214	Kdm6a^tm1c(EUCOMM)Wtsi/Kdm6a^tm1c(EUCOMM)Wtsi H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * C57BL/6N * CBA	MGI:7333177
cn215	Kdm6a^tm1c(EUCOMM)Wtsi/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * C57BL/6N * CBA	MGI:7333176
cn216	Elp1^tm1c(KOMP)Wtsi/Elp1^tm1c(KOMP)Wtsi H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * C57BL/6N * CBA/J	MGI:5558037
cn217	Med23^tm1c(KOMP)Wtsi/Med23^tm1c(KOMP)Wtsi H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * C57BL/6N * CBA/J	MGI:7344053
cn218	Vgll4^tm1b(EUCOMM)Hmgu/Vgll4^tm1c(EUCOMM)Hmgu H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * C57BL/6N * CBA/J * SJL	MGI:6360913
cn219	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig	involves: C57BL/6J * CBA/J	MGI:7333171
cn220	Gt(ROSA)26Sor^tm5(Wnt5a)Flng/? H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5613589
cn221	Arid1a^tm1.1Mag/Arid1a^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5784729
cn222	Smo^tm1Amc/Smo^tm2Amc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:3716198
cn223	Gpr161^tm1.2Smuk/Gpr161^tm1.2Smuk H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:7341388
cn224	Map3k7^tm1Mis/Map3k7^tm1Mis H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5514176
cn225	Gt(ROSA)26Sor^tm4(EWSR1/ATF1)Mrc/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5495316
cn226	Setdb1^tm1.1Yshk/Setdb1^tm1.1Yshk H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:7338918
cn227	Bicra^em3Hzhg/Bicra^em3Hzhg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:7543774
cn228	Zic3^tm1.1Smwa/Y H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5476842
cn229	Irx3^tm3Hui/Irx3^tm3Hui Irx5^tm3Hui/Irx5^tm3Hui H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5444486
cn230	Rhoa^tm1Yuyo/Rhoa^tm1Yuyo H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5004977
cn231	Ednra^tm2Ywa/Ednra^tm2Ywa H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:3849287
cn232	Arid1a^tm1.1Mag/Arid1a^tm1.1Mag H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:5784730
cn233	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Lrp2^tm1Tew/Lrp2^tm1Tew	involves: C57BL/6J * CBA/J	MGI:6199475
cn234	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Kmt2d^tm2.1Kaig/Kmt2d^+	involves: C57BL/6J * CBA/J	MGI:7333170
cn235	Ldb1^tm1Lmgd/Ldb1^tm2Lmgd H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:6460330
cn236	Runx3^tm3Yg/Runx3^tm3Yg H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:7281828
cn237	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(CAG-Bmp4,-EGFP)1Ypc/0	involves: C57BL/6J * CBA/J * CD-1	MGI:6110828
cn238	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0	involves: C57BL/6J * CBA/J * FVB/N	MGI:4361520
cn239	Pdgfra^tm8Sor/Pdgfra^tm8Sor H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	Not Specified	MGI:2450742
cn240	Tfap2a^tm1Hsv/Tfap2a^tm2Will H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	Not Specified	MGI:3038354
cn241	Hoxb1^tm5Mrc/Hoxb1^tm7Mrc H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	Not Specified	MGI:3050407
cx242	Ywhaz^Gt(OST432062)Lex/Ywhaz^Gt(OST432062)Lex H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: 129S6/SvEvTac * C57BL/6J	MGI:6267037
cx243	H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Wnt1-GAL4)11Rth/0	involves: C57BL/6J * CBA/J * Swiss albino	MGI:5551395

Genotype
MGI:5882546

cn1

• Allelic Composition: Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: 129S4.Cg-Fgfr1^tm5.1Sor Fgfr1^tm10.1Sor H2az2^{Tg(Wnt1-cre)11Rth}

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

craniofacial

cleft palate ( J:226497 )

• at P0, 2 of 13 mice exhibit clefting of the palatine and palatal process of the maxilla

growth/size/body

cleft palate ( J:226497 )

• at P0, 2 of 13 mice exhibit clefting of the palatine and palatal process of the maxilla

digestive/alimentary system

cleft palate ( J:226497 )

• at P0, 2 of 13 mice exhibit clefting of the palatine and palatal process of the maxilla

Genotype
MGI:5882544

cn2

• Allelic Composition: Fgfr1^tm5.1Sor/Fgfr1^tm9.1Sor; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: 129S4.Cg-Fgfr1^tm5.1Sor Fgfr1^tm9.1Sor H2az2^{Tg(Wnt1-cre)11Rth}

craniofacial

cleft palate ( J:226497 )

• at P0, 1 of 7 mice exhibit clefting of the palatine and palatal process of the maxilla

growth/size/body

cleft palate ( J:226497 )

• at P0, 1 of 7 mice exhibit clefting of the palatine and palatal process of the maxilla

digestive/alimentary system

cleft palate ( J:226497 )

• at P0, 1 of 7 mice exhibit clefting of the palatine and palatal process of the maxilla

Genotype
MGI:5882528

cn3

• Allelic Composition: Fgfr1^tm5.1Sor/Fgfr1^tm5.1Sor; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: 129S4.Cg-Fgfr1^tm5.1Sor H2az2^{Tg(Wnt1-cre)11Rth}

craniofacial

midline facial cleft ( J:226497 )

• at P0, all (16 of 16) mice exhibit midline facial clefting

growth/size/body

midline facial cleft ( J:226497 )

• at P0, all (16 of 16) mice exhibit midline facial clefting

Genotype
MGI:4360747

cn4

• Allelic Composition: Ext1^tm1Yama/Ext1^tm1Yama; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: B6.Cg-H2az2^{Tg(Wnt1-cre)11Rth} Ext1^tm1Yama

Craniofacial malformation in Ext1^tm1Yama/Ext1^tm1YamaH2az2^{Tg(Wnt1-cre)11Rth}/0 mice

mortality/aging

neonatal lethality, complete penetrance ( J:152572 )

• all mice die within the first day of birth

vision/eye

abnormal eye morphology ( J:152572 )

• mice exhibit eye morphology defects

• however, lens thickness is normal

abnormal iridocorneal angle ( J:152572 )

• reduced

ciliary body coloboma ( J:152572 )

• 58% of mutant mice exhibit ciliary body coloboma

iris coloboma ( J:152572 )

• at E18.5, 99% of mutant mice exhibit ventral iris coloboma

decreased cornea thickness ( J:152572 )

abnormal cornea stroma morphology ( J:152572 )

• the corneal stroma lacks collagen staining unlike in wild-type mice

decreased eye anterior chamber depth ( J:152572 )

• shallow anterior chamber

absent eyelids ( J:152572 )

craniofacial

abnormal craniofacial morphology ( J:152572 )

absent hard palate ( J:152572 )

cleft secondary palate ( J:152572 )

hearing/vestibular/ear

abnormal ear morphology ( J:152572 )

• at E18.5

embryo

decreased cranial neural crest cell proliferation ( J:152572 )

• at E15.5, neural crest cell proliferation is reduced compared to in wild-type mice

• however, neural crest cell migration into the periocular mesenchyme at E11.5 and levels of apoptosis are normal

digestive/alimentary system

absent hard palate ( J:152572 )

cleft secondary palate ( J:152572 )

cellular

decreased cranial neural crest cell proliferation ( J:152572 )

• at E15.5, neural crest cell proliferation is reduced compared to in wild-type mice

• however, neural crest cell migration into the periocular mesenchyme at E11.5 and levels of apoptosis are normal

growth/size/body

absent hard palate ( J:152572 )

cleft secondary palate ( J:152572 )

Genotype
MGI:7489843

cn5

• Allelic Composition: Smc3^tm1.1Toshi/Smc3^tm1.1Toshi; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: B6.Cg-H2az2^{Tg(Wnt1-cre)11Rth} Smc3^tm1.1Toshi

craniofacial

small cranium ( J:242006 )

• at P0.5, mice exhibit a significantly smaller skull than control mice

cleft palate ( J:242006 )

• at E17.5, mice exhibit a cleft palate

skeleton

small cranium ( J:242006 )

• at P0.5, mice exhibit a significantly smaller skull than control mice

growth/size/body

cleft palate ( J:242006 )

• at E17.5, mice exhibit a cleft palate

digestive/alimentary system

cleft palate ( J:242006 )

• at E17.5, mice exhibit a cleft palate

Genotype
MGI:3852467

cn6

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Ptpn11^tm1.1Rbns/Ptpn11^tm1.1Rbns; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: B6.Cg-Ptpn11^tm1.1Rbns Gt(ROSA)26Sor^tm1Sor H2az2^{Tg(Wnt1-cre)11Rth}

embryo

decreased cardiac neural crest cell number ( J:150835 )

• at E12.5, the number of neural crest cells in the outflow tract cushions are less than in wild-type mice

• at E17.5, the number of neural crest cells in the proximal outflow tract is less than in wild-type mice

• however, initial proliferation and migration are normal

impaired cranial neural crest cell differentiation ( J:150835 )

• cranial neural crest cells fail to differentiate into osteoblasts unlike in wild-type mice

nervous system

decreased cardiac neural crest cell number ( J:150835 )

• at E12.5, the number of neural crest cells in the outflow tract cushions are less than in wild-type mice

• at E17.5, the number of neural crest cells in the proximal outflow tract is less than in wild-type mice

• however, initial proliferation and migration are normal

impaired cranial neural crest cell differentiation ( J:150835 )

• cranial neural crest cells fail to differentiate into osteoblasts unlike in wild-type mice

cardiovascular system

decreased cardiac neural crest cell number ( J:150835 )

• at E12.5, the number of neural crest cells in the outflow tract cushions are less than in wild-type mice

• at E17.5, the number of neural crest cells in the proximal outflow tract is less than in wild-type mice

• however, initial proliferation and migration are normal

Genotype
MGI:3852466

cn7

• Allelic Composition: Ptpn11^tm1.1Rbns/Ptpn11^tm1.1Rbns; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: B6.Cg-Ptpn11^tm1.1Rbns H2az2^{Tg(Wnt1-cre)11Rth}

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:150835 )

• embryo survival drops after E15.5 and no mice are born alive

craniofacial

abnormal mandible morphology ( J:150835 )

• neural crest cell-derived mandible is dramatically ablated or completely absent

absent mandible ( J:150835 )

micrognathia ( J:150835 )

abnormal nasal bone morphology ( J:150835 )

absent craniofacial bones ( J:150835 )

• neural crest cell-derived craniofacial bones are dramatically ablated or completely absent

abnormal tongue morphology ( J:150835 )

abnormal nasal cartilage morphology ( J:150835 )

• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

absent nasal capsule ( J:150835 )

small snout ( J:150835 )

• small nose

small ears ( J:150835 )

cardiovascular system

abnormal aortic arch and aortic arch branch attachment ( J:150835 )

• abnormal arch arteries are observed in 32% with 5 of 19 mice exhibiting malpositioning of the left carotid artery and 1 of 19 exhibiting defective left carotid artery

common truncal valve ( J:150835 )

• mice exhibit a truncal valve containing 3 leaflets (in 90% of mice) or 4 leaflets (in 10% of mice) unlike in wild-type mice

• the truncal valve is longer and thicker than the aortic valves of wild-type mice

• however, the atrioventricular valves are normal

persistent truncus arteriosus ( J:150835 )

• all mice exhibit persistent truncus arteriosus

• 84% of heart have type II and 16% type I persistent truncus arteriosus

ventricular septal defect ( J:150835 )

growth/size/body

abnormal nasal bone morphology ( J:150835 )

abnormal tongue morphology ( J:150835 )

abnormal nasal cartilage morphology ( J:150835 )

• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

absent nasal capsule ( J:150835 )

small snout ( J:150835 )

• small nose

small ears ( J:150835 )

microcephaly ( J:150835 )

decreased fetal size ( J:150835 )

• at E15.5

hearing/vestibular/ear

small ears ( J:150835 )

respiratory system

abnormal nasal bone morphology ( J:150835 )

abnormal nasal cartilage morphology ( J:150835 )

• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

absent nasal capsule ( J:150835 )

abnormal nasopharynx morphology ( J:150835 )

skeleton

abnormal mandible morphology ( J:150835 )

• neural crest cell-derived mandible is dramatically ablated or completely absent

absent mandible ( J:150835 )

micrognathia ( J:150835 )

abnormal nasal bone morphology ( J:150835 )

absent craniofacial bones ( J:150835 )

• neural crest cell-derived craniofacial bones are dramatically ablated or completely absent

abnormal nasal cartilage morphology ( J:150835 )

• neural crest cell-derived nasal cartilage is dramatically ablated or completely absent

absent nasal capsule ( J:150835 )

vision/eye

abnormal eye distance/ position ( J:150835 )

• eye placement anomalies

digestive/alimentary system

abnormal tongue morphology ( J:150835 )

Genotype
MGI:4360749

cn8

• Allelic Composition: Ext1^tm1Yama/Ext1⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tgfb2^tm1Doe/Tgfb2⁺
• Genetic Background: B6.Cg-Tgfb2^tm1Doe H2az2^{Tg(Wnt1-cre)11Rth} Ext1^tm1Yama

Thin cornea and iridocorneal dysgenesis in Ext1^tm1Yama/Ext1⁺ H2az2^{Tg(Wnt1-cre)11Rth}/0 Tgfb2^tm1Doe/Tgfb2⁺ mice

mortality/aging

mortality/aging ( J:152572 )

N • mice survive into adulthood

vision/eye

abnormal aqueous drainage system morphology ( J:152572 )

• mice exhibit defects in components of the aqueous drainage system

• however, the iridocorneal angle is normal

abnormal canal of Schlemm morphology ( J:152572 )

abnormal trabecular meshwork morphology ( J:152572 )

• the trabecular beam contains fewer cells than in wild-type mice

ocular hypertension ( J:152572 )

• mice exhibit ocular hypertension unlike single heterozygotes

Genotype
MGI:4410359

cn9

• Allelic Composition: Chd7^Gt(XK403)Byg/Chd7⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA/J) or (involves: 129P2/OlaHsd * C57BL/6J * CBA/J * CD-1)

Effects of Cre-mediated rescue of Chd7^Gt(XK403)Byg mutation on the arch artery phenotype at E10.5

cardiovascular system

abnormal fourth pharyngeal arch artery morphology ( J:154590 )

• in 83% of mice

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:154590 )

• in 83% of mice

embryo

abnormal fourth pharyngeal arch artery morphology ( J:154590 )

• in 83% of mice

Genotype
MGI:3611573

cn10

• Allelic Composition: Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: either: (involves: 129S/SvEv * C57BL/6 * CBA) or (involves: 129S/SvEv * C57BL/6 * CBA * CD-1)

nervous system

open neural tube ( J:103417 )

• at E9.5 and E10.5, the cranial neural tube is open dorsally

absent midbrain-hindbrain boundary ( J:103417 )

• at E9.5 and E10.5, the isthmus (the constriction of the neural tube at the midbrain hindbrain boundary) is absent

decreased midbrain size ( J:103417 )

• at E9.5 and E10.5 the brain rostral to the otic vesicle is significantly smaller

embryo

open neural tube ( J:103417 )

• at E9.5 and E10.5, the cranial neural tube is open dorsally

Genotype
MGI:4410368

cn11

• Allelic Composition: Tbx1^tm2.1Bem/Tbx1^tm2.1Bem; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: either: (involves: 129/Sv * C57BL/6 * C57BL/6J * CBA/J * SJL) or (involves: 129/Sv * C57BL/6J * CBA/J * CD-1 * SJL)

normal phenotype

no abnormal phenotype detected ( J:154590 )

• mice exhibit no abnormalities

Genotype
MGI:3035941

cn12

• Allelic Composition: Lmo4^tm1Sho/Lmo4^tm1Sho; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: either: (involves: 129/Sv * CD-1) or (involves: 129/Sv * C57BL/6)

craniofacial

craniofacial phenotype ( J:88168 )

N • presphenoid bone formed properly

Genotype
MGI:4413446

cn13

• Allelic Composition: Mrgprd^tm1Mjz/?; Ret^tm1Ddg/Ret^tm1Ddg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * 129S1/Sv * C57BL/6 * C57BL/6J * CBA/J

nervous system

abnormal neurite morphology ( J:126484 )

• at P14, GFP+ skin neuron projections are reduced and punctate unlike in control Mrgprd^tm1Mjz Ret^tm1Ddg homozygotes

• however, central axonal projections in the thoracic spinal cord exhibit normal lamina specific innervation of peptidergic and nonpectidergic projections

Genotype
MGI:3779094

cn14

• Allelic Composition: Mfn2^tm1Dcc/Mfn2^tm3Dcc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * 129S4/SvJaeSor * Black Swiss

mortality/aging

postnatal lethality, complete penetrance ( J:132329 )

• mutant pups are born at appropriate Mendelian ratio

• after birth, about one third of mutant mice die on postnatal day 1

• all remaining mutant mice die by P17

behavior/neurological

impaired righting response ( J:132329 )

• mice surviving beyond P1 cannot easily regain posture when placed on their backs

impaired limb coordination ( J:132329 )

• mice surviving beyond P1 display uncoordinated limb movements, and move primarily by writhing on their abdomen

growth/size/body

decreased body size ( J:132329 )

• mice surviving beyond P1 are severely runted, likely due to feeding problems secondary to their movement disorder

nervous system

small cerebellum ( J:132329 )

• severe defect in postnatal cerebellar growth

Genotype
MGI:5285375

cn15

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Sox11^tm1.1Vlf/Sox11^tm1.1Vlf; Sox4^tm1Vlf/Sox4^tm1Vlf; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * CBA/J

embryo

abnormal pharyngeal arch development ( J:175338 )

• massive cell death in the branchial arches without a decrease in cell proliferation

Genotype
MGI:4413445

cn16

• Allelic Composition: Ret^tm1Ddg/Ret^tm1Ddg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * CBA/J

mortality/aging

postnatal lethality, incomplete penetrance ( J:126484 )

• few mice survive beyond 3 weeks

digestive/alimentary system

aganglionic megacolon ( J:126484 )

• at P14

enlarged ileum ( J:126484 )

• at P14

abnormal jejunum morphology ( J:126484 )

• enlarged at P14

nervous system

abnormal neuron morphology ( J:126484 )

• at P14, non-peptidergic neurons are hypotrophic unlike in control Ret^tm1Ddg homozygotes

absent enteric neurons ( J:126484 )

• in the small intestine and colon

small dorsal root ganglion ( J:126484 )

• at P14, the dorsal root ganglia is 30% smaller than in control Ret^tm1Ddg homozygotes

behavior/neurological

weakness ( J:126484 )

• beginning at P3 mice develop progressive weakness

growth/size/body

distended abdomen ( J:126484 )

• at P3

Genotype
MGI:3851919

cn17

• Allelic Composition: Hdac2^tm1.1Eno/Hdac2^tm1.1Eno; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA

normal phenotype

no abnormal phenotype detected ( J:150709 )

• no abnormal phenotype is detected in skull development

Genotype
MGI:3851918

cn18

• Allelic Composition: Hdac1^tm1.1Eno/Hdac1^tm1.1Eno; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA

normal phenotype

no abnormal phenotype detected ( J:150709 )

• no abnormal phenotype is detected in skull development

Genotype
MGI:3851920

cn19

• Allelic Composition: Hdac8^tm1.1Eno/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA * CD-1

mortality/aging

neonatal lethality, incomplete penetrance ( J:150709 )

♂ • some mice die within 4-6 hours after birth from brain hemorrhaging

cardiovascular system

intracranial hemorrhage ( J:150709 )

♂ • some mice die within 4-6 hours after birth from brain hemorrhaging

♂ • hemorrhaging results from ossification defects in the skull

craniofacial

frontal bone foramen ( J:150709 )

♂ • ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

nervous system

intracranial hemorrhage ( J:150709 )

♂ • some mice die within 4-6 hours after birth from brain hemorrhaging

♂ • hemorrhaging results from ossification defects in the skull

skeleton

frontal bone foramen ( J:150709 )

♂ • ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

failure of intramembranous bone ossification ( J:150709 )

♂ • ossification defects lead to the presence of soft tissues in the frontal and interparietal bone and incomplete skull closure

Genotype
MGI:5308956

cn20

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm3Kba; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA/J

nervous system

abnormal cerebellum development ( J:178971 )

• not developed at E10.5

absent midbrain-hindbrain boundary ( J:178971 )

• absent at E10.5

craniofacial

abnormal craniofacial bone morphology ( J:178971 )

• hypoplastic and malformed

skeleton

abnormal craniofacial bone morphology ( J:178971 )

• hypoplastic and malformed

Genotype
MGI:5308958

cn21

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2Kem; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA/J

craniofacial

absent mandible ( J:178971 )

• at E12.5

absent maxilla ( J:178971 )

• at E12.5

small pharyngeal arch ( J:178971 )

• rudimentary at E12.5

nervous system

absent midbrain-hindbrain boundary ( J:178971 )

• absent at E10.5

absent midbrain ( J:178971 )

• absence of midbrain structures at E10.5

absent hindbrain ( J:178971 )

• absence of hindbrain structures at E10.5

embryo

small pharyngeal arch ( J:178971 )

• rudimentary at E12.5

skeleton

absent mandible ( J:178971 )

• at E12.5

absent maxilla ( J:178971 )

• at E12.5

Genotype
MGI:4868201

cn22

• Allelic Composition: Dicer1^tm1Bdh/Dicer1⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA/J

hematopoietic system

abnormal thymus development ( J:166758 )

• thymus development is delayed at E14.5, but by E16.5, the thymus is indistinguishable from wild-type

immune system

abnormal thymus development ( J:166758 )

• thymus development is delayed at E14.5, but by E16.5, the thymus is indistinguishable from wild-type

endocrine/exocrine glands

abnormal thymus development ( J:166758 )

• thymus development is delayed at E14.5, but by E16.5, the thymus is indistinguishable from wild-type

Genotype
MGI:4868120

cn23

• Allelic Composition: Dicer1^tm1Bdh/Dicer1^tm1Bdh; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA/J

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:166758 )

• die soon after E16.5

cardiovascular system

abnormal aortic arch development ( J:166758 )

• discontinuance of the ascending aortic arch with the descending aorta, indicating improper pattering of the aortic arch due to a left fourth aortic arch defect

persistent truncus arteriosus ( J:166758 )

• the outflow tract does not fully septate into a pulmonary artery and aorta in some cases, resulting in the persistence of a common outflow vessel

ventricular septal defect ( J:166758 )

craniofacial

abnormal craniofacial morphology ( J:166758 )

• severe craniofacial defects are seen by E14.5

abnormal first pharyngeal arch morphology ( J:166758 )

• although pharyngeal arches appear similar to wild-type in emergence, size and shape, expression of Dlx2 and Fgf8 are downregulated in pharyngeal arch 1

• apoptosis is increased in the first pharyngeal arch at E11.5

embryo

abnormal first pharyngeal arch morphology ( J:166758 )

• although pharyngeal arches appear similar to wild-type in emergence, size and shape, expression of Dlx2 and Fgf8 are downregulated in pharyngeal arch 1

• apoptosis is increased in the first pharyngeal arch at E11.5

hematopoietic system

athymia ( J:166758 )

• thymus development is absent

immune system

athymia ( J:166758 )

• thymus development is absent

nervous system

abnormal sympathetic ganglion morphology ( J:166758 )

• loss of neural crest cell derived neuronal tissue from the thoracic sympathetic ganglia

abnormal dorsal root ganglion morphology ( J:166758 )

• loss of neural crest cell derived neuronal tissue from the dorsal root ganglia

skeleton

abnormal cartilage morphology ( J:166758 )

• neural crest cell derived maxillary and mandibular regions of the face and frontonasal process lack cartilaginous tissue, however mesodermally derived cartilage near the base of the skull is present

endocrine/exocrine glands

athymia ( J:166758 )

• thymus development is absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:166758

Genotype
MGI:5308955

cn24

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2Kem; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA/J

nervous system

premature neuronal precursor differentiation ( J:178971 )

abnormal neural tube morphology ( J:178971 )

• disruption of apical neural tube morphology leading to migration of cells into the neural canal

abnormal telencephalon development ( J:178971 )

• malformed telencephalic lobes at E12.5

absent midbrain-hindbrain boundary ( J:178971 )

• absent at E12.5

craniofacial

abnormal craniofacial morphology ( J:178971 )

• at E12.5

embryo

abnormal neural tube morphology ( J:178971 )

• disruption of apical neural tube morphology leading to migration of cells into the neural canal

cellular

premature neuronal precursor differentiation ( J:178971 )

Genotype
MGI:5308953

cn25

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm3Kba; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA/J

nervous system

abnormal neuron differentiation ( J:178971 )

• differentiation of sensory neurons in the neural tube is defective

abnormal midbrain morphology ( J:178971 )

• milder defects than in conditional mutant mice homozygous for Ctnnb1^tm2Kem at E12.5

craniofacial

abnormal craniofacial morphology ( J:178971 )

• milder defects than in conditional mutant mice homozygous for Ctnnb1^tm2Kem at E12.5

embryo

embryo phenotype ( J:178971 )

N • apical neural tube morphology is not disrupted at E12.5

cellular

abnormal neuron differentiation ( J:178971 )

• differentiation of sensory neurons in the neural tube is defective

Genotype
MGI:3804086

cn26

• Allelic Composition: Cited2^tm1Bha/Cited2^tm2Bha; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6 * CBA * SJL

mortality/aging

decreased survivor rate ( J:137951 )

• despite present in Mendelian ratios at E18.5, fewer than expected survive to weaning

postnatal lethality, incomplete penetrance ( J:137951 )

• despite present in Mendelian ratios at E18.5, fewer than expected survive to weaning

nervous system

exencephaly ( J:137951 )

• in one mouse

small geniculate ganglion ( J:137951 )

abnormal glossopharyngeal ganglion morphology ( J:137951 )

• 11 of 14 mice exhibit fusion of ganglia IX and X

small trigeminal ganglion ( J:137951 )

abnormal vagus ganglion morphology ( J:137951 )

• 11 of 14 mice exhibit fusion of ganglia IX and X

small vestibular ganglion ( J:137951 )

Genotype
MGI:5430387

cn27

• Allelic Composition: Hs2st1^tm1.1Je/Hs2st1^tm1.1Je; Hs6st1^tm1Wvc/Hs6st1^tm1Wvc; Hs6st2^tm1Lex/Hs6st2^tm1Lex; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129 * C57BL/6J * CBA/J

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:185652 )

♀N • lacrimal gland budding is preserved

Genotype
MGI:5702481

cn28

• Allelic Composition: Mapt^tm2Arbr/?; Runx1^tm3Spe/Runx1^tm3Spe; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J * CBA/J

nervous system

abnormal sensory neuron innervation pattern ( J:226826 )

• reduction of sensory innervtion of the epidermic at P0

abnormal axon morphology ( J:226826 )

• reduction in epidermal nerve fiber density

Genotype
MGI:5882547

cn29

• Allelic Composition: Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor; Stat3^tm2Aki/Stat3^tm2Aki; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor

craniofacial

craniofacial phenotype ( J:226497 )

N • none of the 4 mice examined exhibit cleft palate, likely due to the low penetrance of cleft palate found in Fgfr1^tm5.1Sor/Fgfr1^tm10.1Sor mice (2 of 13)

Genotype
MGI:5882548

cn30

• Allelic Composition: Stat3^tm2Aki/Stat3^tm2Aki; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor

normal phenotype

no abnormal phenotype detected ( J:226497 )

• mice are viable and developmentally normal with no detectable craniofacial abnormalities

Genotype
MGI:5702479

cn31

• Allelic Composition: Cbfb^tm2.1Ddg/Cbfb^tm2.1Ddg; Mapt^tm2Arbr/?; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * CBA/J

nervous system

abnormal sensory neuron innervation pattern ( J:226826 )

• reduction of sensory innervation of the epidermis at P0

abnormal axon morphology ( J:226826 )

• reduction in epidermal nerve fiber density

abnormal nociceptor morphology ( J:226826 )

• deficiency of peripheral projections of nonpeptidergic (mechanical) nociceptors

craniofacial

abnormal craniofacial development ( J:226826 )

mortality/aging

perinatal lethality ( J:226826 )

• mice die perinatally due to craniofacial defects

Genotype
MGI:5305927

cn32

• Allelic Composition: Pbx1^tm1Koss/Pbx1^tm1Koss; Pbx2^tm1Mlc/Pbx2⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S/Sv * C57BL/6J * CBA/J

mortality/aging

postnatal lethality, complete penetrance ( J:178316 )

craniofacial

cleft palate ( J:178316 )

nervous system

nervous system phenotype ( J:178316 )

N • cranial neural crest cell migration and olfactory placodes are normal

digestive/alimentary system

cleft palate ( J:178316 )

growth/size/body

cleft palate ( J:178316 )

Genotype
MGI:5524256

cn33

• Allelic Composition: Nrg1^tm4Cbm/Nrg1^tm4.1Cbm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6J * CBA/J

nervous system

nervous system phenotype ( J:199150 )

N • mice exhibit normal myelination

abnormal muscle spindle morphology ( J:199150 )

• small diameter and few intrafusal fibers

decreased muscle spindle number ( J:199150 )

behavior/neurological

impaired coordination ( J:199150 )

• on an inverted grid, mice loss their grip 5 times faster than control mice

abnormal gait ( J:199150 )

• impaired left/right coordination with frequent hopping

muscle

abnormal muscle spindle morphology ( J:199150 )

• small diameter and few intrafusal fibers

decreased muscle spindle number ( J:199150 )

Genotype
MGI:4365544

cn34

• Allelic Composition: Ptpn11^tm1.1Wbm/Ptpn11^tm1.1Wbm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * SJL * SJL/J

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:153219 )

• most mice die around E13.5

nervous system

abnormal axon extension ( J:153219 )

• at E11.5, cutaneous, intercostal, and limb sensory neuron projections exhibit reduced axonal arborization compared to in wild-type mice

• however, incubation with wild-type Schwann cells restores axon outgrowth

abnormal axon fasciculation ( J:153219 )

• at E11.5, cutaneous, intercostal, and limb sensory neuron projections exhibit defasciculation unlike in wild-type mice

decreased enteric neural crest cell number ( J:153219 )

• Ret+ enteric neural crest cells are reduced compared to in wild-type mice

decreased Schwann cell precursor number ( J:153219 )

• at E11.5, BFABP+ Schwann cell precursors are reduced compared to in wild-type mice

absent Schwann cell precursors ( J:153219 )

• at E12.5, Sox10+ Schwann cell precursors are not detected in peripheral nerves unlike in wild-type mice

decreased Schwann cell number ( J:153219 )

• at E13.5, Schwann cell nuclei in peripheral nerves are virtually absent unlike in wild-type mice

abnormal sensory neuron innervation pattern ( J:153219 )

• at E11.5, cutaneous, intercostal, and limb sensory neuron projections exhibit defasciculation and reduced axonal arborization compared to in wild-type mice

decreased sensory neuron number ( J:153219 )

• at E12.5, lumbar dorsal root ganglia sensory neurons exhibit increased cell death compared to in wild-type mice

• numbers of sensory neurons in the dorsal root ganglia are strongly reduced compared to in wild-type mice

craniofacial

abnormal craniofacial morphology ( J:153219 )

pigmentation

abnormal melanocyte morphology ( J:153219 )

• melanocytes are reduced in number compared to in wild-type mice

embryo

decreased enteric neural crest cell number ( J:153219 )

• Ret+ enteric neural crest cells are reduced compared to in wild-type mice

cellular

abnormal axon extension ( J:153219 )

• at E11.5, cutaneous, intercostal, and limb sensory neuron projections exhibit reduced axonal arborization compared to in wild-type mice

• however, incubation with wild-type Schwann cells restores axon outgrowth

abnormal axon fasciculation ( J:153219 )

• at E11.5, cutaneous, intercostal, and limb sensory neuron projections exhibit defasciculation unlike in wild-type mice

Genotype
MGI:3653215

cn35

• Allelic Composition: Gja1^tm1Kwi/Gja1^tm1Kwi; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

normal phenotype

no abnormal phenotype detected ( J:110142 )

• normal embryonic development and cardiac morphogenesis is observed

Genotype
MGI:3811608

cn36

• Allelic Composition: Pkd1^tm3Jzh/Pkd1^tm3Jzh; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

cellular

decreased chondrocyte proliferation ( J:139970 )

• synchondrosal chondrocytes have reduced proliferative activity

craniofacial

abnormal craniofacial bone morphology ( J:139970 )

abnormal presphenoid synchondrosis ( J:139970 )

• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure

premature presphenoid synchondrosis closure ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the sphenoid and presphenoid bones

• in contrast, the sphenooccipital synchondrosis remains patent, as in wild-type littermates

short frontal bone ( J:139970 )

• adult mice show a mild longitudinal growth defect of the frontal bone

abnormal sphenoid bone morphology ( J:139970 )

• the sphenoid bones are much smaller

short presphenoid bone ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the presphenoid bone

malocclusion ( J:139970 )

• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)

short mandible ( J:139970 )

• adult mice show a mild longitudinal growth defect of the mandible

short premaxilla ( J:139970 )

• adult pre-maxillary bones are severely reduced in length

maxilla hypoplasia ( J:139970 )

• the growth of the upper jaw is profoundly retarded

short maxilla ( J:139970 )

• adult maxillary bones are severely reduced in length

nasal bone hypoplasia ( J:139970 )

• mineralization of the caudal nasal bone is markedly reduced

short nasal bone ( J:139970 )

• adult nasal bones are severely reduced in length

domed cranium ( J:139970 )

• dome-shaped skull vault noticeable by three weeks after birth

short snout ( J:139970 )

• shortened and bent snouts are obvious three weeks after birth resulting from abnormal nasal bone growth in the rostral direction

skeleton

decreased chondrocyte proliferation ( J:139970 )

• synchondrosal chondrocytes have reduced proliferative activity

abnormal craniofacial bone morphology ( J:139970 )

abnormal presphenoid synchondrosis ( J:139970 )

• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure

premature presphenoid synchondrosis closure ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the sphenoid and presphenoid bones

• in contrast, the sphenooccipital synchondrosis remains patent, as in wild-type littermates

short frontal bone ( J:139970 )

• adult mice show a mild longitudinal growth defect of the frontal bone

abnormal sphenoid bone morphology ( J:139970 )

• the sphenoid bones are much smaller

short presphenoid bone ( J:139970 )

• early postnatal obliteration of the presphenoid synchondrosis results in the shortening of the presphenoid bone

malocclusion ( J:139970 )

• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)

short mandible ( J:139970 )

• adult mice show a mild longitudinal growth defect of the mandible

short premaxilla ( J:139970 )

• adult pre-maxillary bones are severely reduced in length

maxilla hypoplasia ( J:139970 )

• the growth of the upper jaw is profoundly retarded

short maxilla ( J:139970 )

• adult maxillary bones are severely reduced in length

nasal bone hypoplasia ( J:139970 )

• mineralization of the caudal nasal bone is markedly reduced

short nasal bone ( J:139970 )

• adult nasal bones are severely reduced in length

domed cranium ( J:139970 )

• dome-shaped skull vault noticeable by three weeks after birth

abnormal perichondrium morphology ( J:139970 )

• there is a population of apoptotic cells in the perichondrium of the presphenoid synchondrosis prior to its closure

delayed intramembranous bone ossification ( J:139970 )

• there is a delay in the intramembranous ossification of the facial and calvarial bones noted at 5 days after birth

growth/size/body

malocclusion ( J:139970 )

• maxilla hypoplasia leads to an abnormal apposition of the incisors (class III malocclusion)

nasal bone hypoplasia ( J:139970 )

• mineralization of the caudal nasal bone is markedly reduced

short nasal bone ( J:139970 )

• adult nasal bones are severely reduced in length

short snout ( J:139970 )

• shortened and bent snouts are obvious three weeks after birth resulting from abnormal nasal bone growth in the rostral direction

respiratory system

nasal bone hypoplasia ( J:139970 )

• mineralization of the caudal nasal bone is markedly reduced

short nasal bone ( J:139970 )

• adult nasal bones are severely reduced in length

Genotype
MGI:5659950

cn37

• Allelic Composition: Braf^tm1Wds/Braf^tm1Wds; Raf1^tm2Bacc/Raf1^tm2Bacc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA/J

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:144862 )

• mice die in late gestation

cardiovascular system

persistent truncus arteriosus ( J:144862 )

• in 4 of 6 mice at E17.5

abnormal conotruncus morphology ( J:144862 )

• mild conotruncal defects at E16.5

double outlet right ventricle ( J:144862 )

• at E16.5

ventricular septal defect ( J:144862 )

• in 4 of 6 mice at E17.5 with 1 mouse also exhibiting double outlet right ventricle

endocrine/exocrine glands

small thymus ( J:144862 )

• in 5 of 8 mice at E16.5 and E17.5

abnormal thyroid gland morphology ( J:144862 )

• hypoplastic or malpositioned in 2 of 3 mice at E16.5

small thyroid gland ( J:144862 )

• hypoplastic or malpositioned in 2 of 3 mice at E16.5

craniofacial

mandible hypoplasia ( J:144862 )

short maxilla ( J:144862 )

growth/size/body

growth/size/body region phenotype ( J:144862 )

N • mice exhibit normal embryonic crown-rump length

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:144862 )

N • mice exhibit normal external ear

skeleton

mandible hypoplasia ( J:144862 )

short maxilla ( J:144862 )

immune system

small thymus ( J:144862 )

• in 5 of 8 mice at E16.5 and E17.5

hematopoietic system

small thymus ( J:144862 )

• in 5 of 8 mice at E16.5 and E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiofaciocutaneous syndrome		DOID:0060233	OMIM:PS115150	J:144862

Genotype
MGI:3697616

cn38

• Allelic Composition: Mrtfb^{Gt(RRJ478)Byg}/Mrtfb^{Gt(RRJ478)Byg}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA/J

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:117226 )

• fewer than expected numbers of newborns are seen (11.5% instead of the expected 25%), indicating partial lethality, however lethality is lower than in single Mkl2 homozygotes

Genotype
MGI:4438212

cn39

• Allelic Composition: Gt(ROSA)26Sor^tm2(DTA)Riet/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA/J

nervous system

abnormal facial nerve morphology ( J:157532 )

• numerous anomalies are evident in the branching pattern of the facial nerve

Genotype
MGI:5707466

cn40

• Allelic Composition: Hic2^{Gt(E225A08)1.1Wrst}/Hic2^{Gt(E225A08)1.1Wrst}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA/J

mortality/aging

mortality/aging ( J:225226 )

N • no embryonic or perinatal lethality

Genotype
MGI:7492235

cn41

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Nipbl^{Gt(EUCE313f02)1.1Hmgu}/Nipbl⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA/J * CD-1

cardiovascular system

cardiovascular system phenotype ( J:236978 )

N • no heart defects are seen

Genotype
MGI:7338996

cn42

• Allelic Composition: Ezh2^tm2Sho/Ezh2⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6J * CBA/J

craniofacial

craniofacial phenotype ( J:323190 )

N • development of the palatine processes of the maxilla and palatine bones and proliferation and differentiation of palatal mesenchymal cells are restored by conditional deletion of one copy of Ezh2 compared to mutant mice with wild-type Ezh2

cleft palate ( J:323190 )

• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency

digestive/alimentary system

cleft palate ( J:323190 )

• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency

growth/size/body

cleft palate ( J:323190 )

• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency

Genotype
MGI:5298219

cn43

• Allelic Composition: Pitx2^tm1.1Sac/Pitx2^tm2Sac; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Gt(ROSA)26Sor^tm1Sor/?
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

vision/eye

absent optic nerve ( J:104125 )

abnormal eye pigmentation ( J:104125 )

• devoid of pigment except for a cone shaped region in the anterior segment

abnormal retina pigmentation ( J:104125 )

• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5

decreased cornea stroma thickness ( J:104125 )

• corneal stroma and epithelium are absent

abnormal eye development ( J:104125 )

• hypomorphic hyaloid blood vessels

abnormal eye muscle development ( J:104125 )

• muscle bundles present adjacent to the anterior segment

abnormal optic stalk morphology ( J:104125 )

• eye stalk fails to extend at E12.5

• eyes directly attached to ventral diencephalon by E14.5

• retinal ganglion cell axons enter ventral thalamus and form an optic chiasma-like structure

absent sclera ( J:104125 )

anophthalmia ( J:104125 )

• eyes are not visible externally at E16.5

• eyes present but buried within the skull near the midline directly beneath the brain

• lens and retina present

pigmentation

abnormal eye pigmentation ( J:104125 )

• devoid of pigment except for a cone shaped region in the anterior segment

abnormal retina pigmentation ( J:104125 )

• retinal pigment layer is normal at E10.5 but pigment loss begins at E12.5

nervous system

absent optic nerve ( J:104125 )

muscle

abnormal eye muscle development ( J:104125 )

• muscle bundles present adjacent to the anterior segment

Genotype
MGI:3639491

cn44

• Allelic Composition: Fgf15^tm1Sms/Fgf15^tm1Sms; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

embryo

decreased cardiac neural crest cell number ( J:97317 )

• at E12.5, homozygotes exhibit successful septation of the distal outflow tract; however, the number of NCCs contributing to the proximal outflow tract is significantly reduced

abnormal cardiac neural crest cell migration ( J:97317 )

• at E9.5, cardiac NCCs migrate to the developing caudal pharyngeal arches of mutant embryos in numbers comparable to those of wild-type embryos; however, at E11.5, NCCs fail to invaginate on the right side of the proximal aortic sac at the level of its connection with the 6th aortic arch arteries

• as a result, the conotruncal cushions remain oriented laterally relative to one another

cardiovascular system

decreased cardiac neural crest cell number ( J:97317 )

• at E12.5, homozygotes exhibit successful septation of the distal outflow tract; however, the number of NCCs contributing to the proximal outflow tract is significantly reduced

abnormal cardiac outflow tract development ( J:97317 )

• homozygotes exhibit abnormal NCC behavior during outflow tract remodeling

nervous system

decreased cardiac neural crest cell number ( J:97317 )

• at E12.5, homozygotes exhibit successful septation of the distal outflow tract; however, the number of NCCs contributing to the proximal outflow tract is significantly reduced

cellular

abnormal cardiac neural crest cell migration ( J:97317 )

• at E9.5, cardiac NCCs migrate to the developing caudal pharyngeal arches of mutant embryos in numbers comparable to those of wild-type embryos; however, at E11.5, NCCs fail to invaginate on the right side of the proximal aortic sac at the level of its connection with the 6th aortic arch arteries

• as a result, the conotruncal cushions remain oriented laterally relative to one another

Genotype
MGI:5447985

cn45

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Hhat^{Tg(TFAP2A-cre)1Will}/Hhat^{Tg(TFAP2A-cre)1Will}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

nervous system

abnormal cranial ganglia morphology ( J:190013 )

• hypoplastic, particularly the trigeminal ganglion

abnormal trigeminal ganglion morphology ( J:190013 )

• maxillary branch is consistently narrower than in controls

small trigeminal ganglion ( J:190013 )

Genotype
MGI:7355998

cn46

• Allelic Composition: Gt(ROSA)26Sor^tm2Sho/Gt(ROSA)26Sor⁺; Sp8^tm1Smb/Sp8^tm1Smb; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J

embryo

increased cranial neural crest cell apoptosis ( J:200761 )

• at E9.5, a 4-fold increase in apoptosis is detected in the neural crest cells (NCCs) of the facial mesenchyme

• at E10.5, apoptosis is significantly increased in both the medial nasal prominences (MNP) and lateral nasal prominences (LNP) and the olfactory pit

increased head mesenchyme apoptosis ( J:200761 )

• at E9.5, a 4-fold increase in apoptosis is detected in the neural crest cells (NCCs) of the facial mesenchyme

• at E10.5, apoptosis is significantly increased in both the medial nasal prominences (MNP) and lateral nasal prominences (LNP) and the olfactory pit

decreased cranial neural crest cell proliferation ( J:200761 )

• at E9.5, but not at E8.5, NCC proliferation is significantly reduced in the facial mesenchyme

• at E10.5, cell proliferation is significantly reduced in the olfactory pit and the lateral nasal prominences (LNP), but not in the medial nasal prominences (MNP)

nervous system

increased embryonic neuroepithelium apoptosis ( J:200761 )

• at E8.5, a 3-fold increase in apoptosis is detected in the anterior neuroepithelium of the cranial neural folds, including the anterior neural ridge (ANR); however, no elevated apoptosis is observed in the neural crest cells (NCCs) at this age

cellular

increased cranial neural crest cell apoptosis ( J:200761 )

• at E9.5, a 4-fold increase in apoptosis is detected in the neural crest cells (NCCs) of the facial mesenchyme

• at E10.5, apoptosis is significantly increased in both the medial nasal prominences (MNP) and lateral nasal prominences (LNP) and the olfactory pit

increased head mesenchyme apoptosis ( J:200761 )

• at E9.5, a 4-fold increase in apoptosis is detected in the neural crest cells (NCCs) of the facial mesenchyme

• at E10.5, apoptosis is significantly increased in both the medial nasal prominences (MNP) and lateral nasal prominences (LNP) and the olfactory pit

increased embryonic neuroepithelium apoptosis ( J:200761 )

• at E8.5, a 3-fold increase in apoptosis is detected in the anterior neuroepithelium of the cranial neural folds, including the anterior neural ridge (ANR); however, no elevated apoptosis is observed in the neural crest cells (NCCs) at this age

decreased cranial neural crest cell proliferation ( J:200761 )

• at E9.5, but not at E8.5, NCC proliferation is significantly reduced in the facial mesenchyme

• at E10.5, cell proliferation is significantly reduced in the olfactory pit and the lateral nasal prominences (LNP), but not in the medial nasal prominences (MNP)

craniofacial

abnormal nasal pit morphology ( J:200761 )

• at E10.5, apoptosis is significantly increased whereas cell proliferation is significantly reduced in the olfactory pit

growth/size/body

increased head mesenchyme apoptosis ( J:200761 )

• at E9.5, a 4-fold increase in apoptosis is detected in the neural crest cells (NCCs) of the facial mesenchyme

• at E10.5, apoptosis is significantly increased in both the medial nasal prominences (MNP) and lateral nasal prominences (LNP) and the olfactory pit

respiratory system

abnormal nasal pit morphology ( J:200761 )

• at E10.5, apoptosis is significantly increased whereas cell proliferation is significantly reduced in the olfactory pit

Genotype
MGI:7367250

cn47

• Allelic Composition: Bmp2^tm1Jfm/Bmp2^tm1Jfm; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J

craniofacial

craniofacial phenotype ( J:274818 )

N • the size of the first branchial arch is normal at E10.5

embryo

embryo phenotype ( J:274818 )

N • the size of the first branchial arch is normal at E10.5

Genotype
MGI:7339121

cn48

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1^tm1Jpa; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J

craniofacial

decreased maxillary shelf size ( J:298139 )

• maxillary processes are slightly reduced at E10.5

small frontonasal prominence ( J:298139 )

• frontonasal prominence is slightly reduced at E10.5

• cranial neural crest (CNC) cell participation in the frontonasal prominence is markedly reduced

• however, neural tube formation is normal

digestive/alimentary system

decreased maxillary shelf size ( J:298139 )

• maxillary processes are slightly reduced at E10.5

growth/size/body

decreased maxillary shelf size ( J:298139 )

• maxillary processes are slightly reduced at E10.5

skeleton

decreased maxillary shelf size ( J:298139 )

• maxillary processes are slightly reduced at E10.5

Genotype
MGI:5896991

cn49

• Allelic Composition: Ednrb^tm1Nrd/Ednrb^tm1Nrd; Gt(ROSA)26Sor^{tm14(CAG-tdTomato)Hze}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * CBA/J

digestive/alimentary system

large intestinal inflammation ( J:233811 )

• mice develop intestinal inflammation in both the proximal and mid-colon by P26-29

• however, no inflammation is seen at earlier time points on in the small intestine

hematopoietic system

abnormal mature B cell number ( J:233811 )

• mature B-lymphocytes are reduced in Peyers patches and are enriched in the spleen

decreased B cell number ( J:233811 )

• the proportion of total B-lymphocytes in Peyers patches is decreased to about 80% of levels seen in controls, indicating a 3.6-fold reduction in the number of B cells

• mice show a decrease of B-lymphocytes in the germinal centers of spleens and a decrease of B-lymphocytes within the marginal zones

• however, no differences in pre/pro-B lymphocyte and mature B lymphocyte populations at P21 in the bone marrow

decreased germinal center B cell number ( J:233811 )

• mice show a decrease of B-lymphocytes in the germinal centers of spleens

abnormal spleen morphology ( J:233811 )

• mice exhibit splenic lymphopenia

decreased marginal zone B cell number ( J:233811 )

• mice show a decrease of B-lymphocytes within the marginal zones

decreased spleen red pulp amount ( J:233811 )

small spleen ( J:233811 )

• spleens in P21-P24 mice are smaller in size

decreased spleen weight ( J:233811 )

• spleens weigh less than those of controls as a proportion of the total body weight

decreased spleen white pulp amount ( J:233811 )

abnormal splenic cell ratio ( J:233811 )

• decrease in the proportion of total (B220+) B-lymphocytes and in the numbers of total B lymphocytes in spleens

• increase in the proportion of mature B-lymphocytes in the spleen, although numbers are decreased

decreased IgA level ( J:233811 )

• secretory IgA is decreased in the small intestine

• however, no differences in secretory IgA are seen in the nasal airway lavage or bronchoalveolar lavage and no differences in small bowel luminal IgM levels are seen

immune system

large intestinal inflammation ( J:233811 )

• mice develop intestinal inflammation in both the proximal and mid-colon by P26-29

• however, no inflammation is seen at earlier time points on in the small intestine

abnormal mature B cell number ( J:233811 )

• mature B-lymphocytes are reduced in Peyers patches and are enriched in the spleen

decreased B cell number ( J:233811 )

• the proportion of total B-lymphocytes in Peyers patches is decreased to about 80% of levels seen in controls, indicating a 3.6-fold reduction in the number of B cells

• mice show a decrease of B-lymphocytes in the germinal centers of spleens and a decrease of B-lymphocytes within the marginal zones

• however, no differences in pre/pro-B lymphocyte and mature B lymphocyte populations at P21 in the bone marrow

decreased germinal center B cell number ( J:233811 )

• mice show a decrease of B-lymphocytes in the germinal centers of spleens

abnormal spleen morphology ( J:233811 )

• mice exhibit splenic lymphopenia

decreased marginal zone B cell number ( J:233811 )

• mice show a decrease of B-lymphocytes within the marginal zones

decreased spleen red pulp amount ( J:233811 )

small spleen ( J:233811 )

• spleens in P21-P24 mice are smaller in size

decreased spleen weight ( J:233811 )

• spleens weigh less than those of controls as a proportion of the total body weight

decreased spleen white pulp amount ( J:233811 )

abnormal splenic cell ratio ( J:233811 )

• decrease in the proportion of total (B220+) B-lymphocytes and in the numbers of total B lymphocytes in spleens

• increase in the proportion of mature B-lymphocytes in the spleen, although numbers are decreased

decreased IgA level ( J:233811 )

• secretory IgA is decreased in the small intestine

• however, no differences in secretory IgA are seen in the nasal airway lavage or bronchoalveolar lavage and no differences in small bowel luminal IgM levels are seen

abnormal Peyer's patch morphology ( J:233811 )

• Peyers patches are hypocellular and exhibit B-cell lymphopenia

small Peyer's patches ( J:233811 )

• Peyers patches are small in size in P21-P24 mice but have normal architecture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:233811

Genotype
MGI:5440183

cn50

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem; Gt(ROSA)26Sor^{tm1(Ctnnb1)Kem}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

prenatal lethality, complete penetrance ( J:187739 )

nervous system

abnormal brain morphology ( J:187739 )

• brain defects

craniofacial

abnormal craniofacial morphology ( J:187739 )

• impaired morphogenesis of craniofacial structures

Genotype
MGI:5440182

cn51

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem; Gt(ROSA)26Sor^{tm1(Ctnnb1)Kem}/Gt(ROSA)26Sor^{tm1(Ctnnb1)Kem}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:187739 )

• die within hours of birth probably because of an inability to feed

Genotype
MGI:3848967

cn52

• Allelic Composition: Hand2^tm1Cse/Hand2^tm1Dsr; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * CBA

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:122604 )

• embryos begin to die by 12 dpc and no live embryos are recovered at 13 dpc

cardiovascular system

visceral vascular congestion ( J:122604 )

• blood pools in major vessels, heart, liver, and coelom by 12 dpc

abnormal blood circulation ( J:122604 )

• circulatory defects develop by 12 dpc

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:122604 )

• number of neuronal cells in sympathetic nervous system expressing tyrosine hydroxylase or dopamine beta-hydroxylase is greatly reduced compared to controls at 12.5 dpc

nervous system

nervous system phenotype ( J:122604 )

N • neural crest cell colonization of the sympathetic nervous system is normal, and sympathetic nervous system differentiation is unaffected in mutant embryos

abnormal adrenergic neuron morphology ( J:122604 )

• catecholaminergic differentiation of the sympathetic nervous system is abnormal in mutants; fewer neurons produce enzymes needed for synthesis of noradrenaline than in wild-type controls

Genotype
MGI:3715254

cn53

• Allelic Composition: Hand2^tm1Cse/Hand2^tm1Cse; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6 * CBA

craniofacial

craniofacial phenotype ( J:149232 )

N • palate is normal

N • no changes in cell proliferation or apoptosis are observed in palatal shelves at E13.5

Genotype
MGI:7346394

cn54

• Allelic Composition: Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Srsf3^tm1Pjln/Srsf3^tm1Pjln
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6J * CBA/J

embryo

decreased cranial neural crest cell apoptosis ( J:308882 )

• decreased apoptosis of cranial neural crest cells that is slight at E8.0, over 30-fold at E9.5 and 4-fold at E10.5

decreased cranial neural crest cell proliferation ( J:308882 )

• considerable at E8.0, modest at E9.5, and 4-fold at E10.5

abnormal cranial neural crest cell morphology ( J:308882 )

• reduced intensity of reporter expressing cells in the frontonasal prominence and pharyngeal arch 1 at E9.5 and throughout the facial processes at E10.5

• absence of obvious NCC streams entering the pharyngeal arches at E10.5

cellular

decreased cranial neural crest cell apoptosis ( J:308882 )

• decreased apoptosis of cranial neural crest cells that is slight at E8.0, over 30-fold at E9.5 and 4-fold at E10.5

decreased cranial neural crest cell proliferation ( J:308882 )

• considerable at E8.0, modest at E9.5, and 4-fold at E10.5

nervous system

abnormal cranial neural crest cell morphology ( J:308882 )

• reduced intensity of reporter expressing cells in the frontonasal prominence and pharyngeal arch 1 at E9.5 and throughout the facial processes at E10.5

• absence of obvious NCC streams entering the pharyngeal arches at E10.5

Genotype
MGI:5902457

cn55

• Allelic Composition: Mapk1^tm1Gela/Mapk1^tm1Gela; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:239772 )

• mice die at birth

craniofacial

abnormal Meckel's cartilage morphology ( J:239772 )

• morphology of Meckel's cartilage is disrupted at E14.5, with a reduction in size and a complete discontinuity on one side

small Meckel's cartilage ( J:239772 )

• small at E14.5

abnormal mandible morphology ( J:239772 )

• mandibular asymmetry in newborns, with the proximal region severely affected and the distal region only mildly affected; this asymmetry is associated with the asymmetry of tongue and the elevation of a single palatal shelf

• in newborns, the more severely affected side of the mandible corresponds to the side lacking palatal shelf elevation

• marker analysis indicates an initial decrease in the pool of osteogenic progenitors in the mandible followed by a delay in the osteogenic process

• however, cell proliferation and survival in mandibles at E12.5-E15.5 is similar to controls

abnormal mandibular angle morphology ( J:239772 )

• the angle is severely disrupted or completely absent in some mice

small mandibular condyloid process ( J:239772 )

• condyle is greatly reduced in size

abnormal mandibular coronoid process morphology ( J:239772 )

• the coronoid process is severely disrupted or completely absent in some mice

small mandible ( J:239772 )

• newborn mandibles show an approximate 50% reduction in mandibular volume

maxilla hypoplasia ( J:239772 )

micrognathia ( J:239772 )

• micrognathia is detectable by E13.5 and mandibular defects are more severe at E14.5

• when micrognathia affects both sides equally, the tongue is symmetrically positioned in a high location and neither palatal shelf is elevated

failure of palatal shelf elevation ( J:239772 )

• palatal shelf elevation is impaired; both anterior and posterior regions of the palate are affected

• elevation defect is seen along the AP axis at E14.5 and E15.5

• in a rotational culture system, palatal shelves (dissected away from the mandible and tongue) from E13.5 mutants are able to elevate but do not fuse, suggesting that palatal shelf elevation defect results from primary malformation in the tongue and/or mandible

complete cleft palate ( J:239772 )

• complete cleft palate

abnormal tongue morphology ( J:239772 )

• tongues exhibit malposition and disruption of muscle patterning with absence of tendon development

• cell survival in the tongue and cell proliferation in muscular and neural crest-derived components of the tongue are not affected at E12.5-E14.5 and marker analysis indicates that muscle differentiation in the tongue is not affected

abnormal tongue muscle morphology ( J:239772 )

• the organization of fibers in both the intrinsic and extrinsic muscles of the tongue is altered, resulting in gross disruption of the muscle pattern and position

abnormal extrinsic tongue muscle morphology ( J:239772 )

• at E15.5, the extrinsic muscles of the tongue are attached directly to the Meckel's cartilage and in close vicinity to the bone primordium compared to control muscles which are not in contact with the cartilage or the osteogenic progenitors

abnormal tongue position ( J:239772 )

• tongues exhibit malposition: typically, one side of the tongue descends whereas the other side remains high, blocking the elevation of one palatal shelf

decreased tongue size ( J:239772 )

• approximate 45% reduction in tongue volume

digestive/alimentary system

failure of palatal shelf elevation ( J:239772 )

• palatal shelf elevation is impaired; both anterior and posterior regions of the palate are affected

• elevation defect is seen along the AP axis at E14.5 and E15.5

• in a rotational culture system, palatal shelves (dissected away from the mandible and tongue) from E13.5 mutants are able to elevate but do not fuse, suggesting that palatal shelf elevation defect results from primary malformation in the tongue and/or mandible

complete cleft palate ( J:239772 )

• complete cleft palate

abnormal tongue morphology ( J:239772 )

• tongues exhibit malposition and disruption of muscle patterning with absence of tendon development

• cell survival in the tongue and cell proliferation in muscular and neural crest-derived components of the tongue are not affected at E12.5-E14.5 and marker analysis indicates that muscle differentiation in the tongue is not affected

abnormal tongue muscle morphology ( J:239772 )

• the organization of fibers in both the intrinsic and extrinsic muscles of the tongue is altered, resulting in gross disruption of the muscle pattern and position

abnormal extrinsic tongue muscle morphology ( J:239772 )

• at E15.5, the extrinsic muscles of the tongue are attached directly to the Meckel's cartilage and in close vicinity to the bone primordium compared to control muscles which are not in contact with the cartilage or the osteogenic progenitors

abnormal tongue position ( J:239772 )

• tongues exhibit malposition: typically, one side of the tongue descends whereas the other side remains high, blocking the elevation of one palatal shelf

decreased tongue size ( J:239772 )

• approximate 45% reduction in tongue volume

growth/size/body

failure of palatal shelf elevation ( J:239772 )

• palatal shelf elevation is impaired; both anterior and posterior regions of the palate are affected

• elevation defect is seen along the AP axis at E14.5 and E15.5

• in a rotational culture system, palatal shelves (dissected away from the mandible and tongue) from E13.5 mutants are able to elevate but do not fuse, suggesting that palatal shelf elevation defect results from primary malformation in the tongue and/or mandible

complete cleft palate ( J:239772 )

• complete cleft palate

abnormal tongue morphology ( J:239772 )

• tongues exhibit malposition and disruption of muscle patterning with absence of tendon development

• cell survival in the tongue and cell proliferation in muscular and neural crest-derived components of the tongue are not affected at E12.5-E14.5 and marker analysis indicates that muscle differentiation in the tongue is not affected

abnormal tongue muscle morphology ( J:239772 )

• the organization of fibers in both the intrinsic and extrinsic muscles of the tongue is altered, resulting in gross disruption of the muscle pattern and position

abnormal extrinsic tongue muscle morphology ( J:239772 )

• at E15.5, the extrinsic muscles of the tongue are attached directly to the Meckel's cartilage and in close vicinity to the bone primordium compared to control muscles which are not in contact with the cartilage or the osteogenic progenitors

abnormal tongue position ( J:239772 )

• tongues exhibit malposition: typically, one side of the tongue descends whereas the other side remains high, blocking the elevation of one palatal shelf

decreased tongue size ( J:239772 )

• approximate 45% reduction in tongue volume

muscle

abnormal tongue muscle morphology ( J:239772 )

• the organization of fibers in both the intrinsic and extrinsic muscles of the tongue is altered, resulting in gross disruption of the muscle pattern and position

abnormal extrinsic tongue muscle morphology ( J:239772 )

• at E15.5, the extrinsic muscles of the tongue are attached directly to the Meckel's cartilage and in close vicinity to the bone primordium compared to control muscles which are not in contact with the cartilage or the osteogenic progenitors

skeleton

abnormal Meckel's cartilage morphology ( J:239772 )

• morphology of Meckel's cartilage is disrupted at E14.5, with a reduction in size and a complete discontinuity on one side

small Meckel's cartilage ( J:239772 )

• small at E14.5

abnormal mandible morphology ( J:239772 )

• mandibular asymmetry in newborns, with the proximal region severely affected and the distal region only mildly affected; this asymmetry is associated with the asymmetry of tongue and the elevation of a single palatal shelf

• in newborns, the more severely affected side of the mandible corresponds to the side lacking palatal shelf elevation

• marker analysis indicates an initial decrease in the pool of osteogenic progenitors in the mandible followed by a delay in the osteogenic process

• however, cell proliferation and survival in mandibles at E12.5-E15.5 is similar to controls

abnormal mandibular angle morphology ( J:239772 )

• the angle is severely disrupted or completely absent in some mice

small mandibular condyloid process ( J:239772 )

• condyle is greatly reduced in size

abnormal mandibular coronoid process morphology ( J:239772 )

• the coronoid process is severely disrupted or completely absent in some mice

small mandible ( J:239772 )

• newborn mandibles show an approximate 50% reduction in mandibular volume

maxilla hypoplasia ( J:239772 )

micrognathia ( J:239772 )

• micrognathia is detectable by E13.5 and mandibular defects are more severe at E14.5

• when micrognathia affects both sides equally, the tongue is symmetrically positioned in a high location and neither palatal shelf is elevated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weissenbacher-Zweymuller syndrome		DOID:4258	OMIM:261800	J:239772

Genotype
MGI:3702775

cn56

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1^tm1Jpa; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality ( J:83004 )

nervous system

abnormal cerebellum development ( J:83004 )

• dorsal cerebellum development is abnormal

absent inferior colliculus ( J:83004 )

• inferior colliculus is deleted in the posterior midbrain

abnormal cerebellum vermis morphology ( J:83004 )

• the vermis is present but severely malformed

Genotype
MGI:3804318

cn57

• Allelic Composition: Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^tm2(Pax3)Joe; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

craniofacial

abnormal craniofacial morphology ( J:137730 )

• authors state that mice exhibit identical phenotypes as observed in Gt(ROSA)26Sor^tm2Joe/Gt(ROSA)26Sor^tm2Joe Pax3^tm1(cre)Joe/Pax3⁺ mice

abnormal palate morphology ( J:137730 )

• authors state that mice exhibit identical phenotypes as observed in Gt(ROSA)26Sor^tm2Joe/Gt(ROSA)26Sor^tm2Joe Pax3^tm1(cre)Joe/Pax3⁺ mice

vision/eye

abnormal eyelid morphology ( J:137730 )

• authors state that mice exhibit identical phenotypes as observed in Gt(ROSA)26Sor^tm2Joe/Gt(ROSA)26Sor^tm2Joe Pax3^tm1(cre)Joe/Pax3⁺ mice

digestive/alimentary system

abnormal palate morphology ( J:137730 )

• authors state that mice exhibit identical phenotypes as observed in Gt(ROSA)26Sor^tm2Joe/Gt(ROSA)26Sor^tm2Joe Pax3^tm1(cre)Joe/Pax3⁺ mice

growth/size/body

abnormal palate morphology ( J:137730 )

• authors state that mice exhibit identical phenotypes as observed in Gt(ROSA)26Sor^tm2Joe/Gt(ROSA)26Sor^tm2Joe Pax3^tm1(cre)Joe/Pax3⁺ mice

Genotype
MGI:3804321

cn58

• Allelic Composition: Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

craniofacial

cleft palate ( J:137730 )

• in one mouse

digestive/alimentary system

cleft palate ( J:137730 )

• in one mouse

growth/size/body

cleft palate ( J:137730 )

• in one mouse

Genotype
MGI:3697607

cn59

• Allelic Composition: Acvr1^tm1Vk/Acvr1^tm1.1Vk; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:90988 )

• mutants that are born alive die during the first postnatal day

lethality throughout fetal growth and development, incomplete penetrance ( J:90453 , J:90988 )

• about 40% die in utero (J:90453)

• only 60% of expected numbers are recovered at birth, however the expected numbers are recovered at E14, indicating 40% lethality between E14 and birth (J:90988)

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:90988 )

• display abnormal regression of the pharyngeal arch arteries

abnormal sixth pharyngeal arch artery morphology ( J:90988 )

• at E11.5, the 6th arteries display bilaterally inappropriate regression

abnormal third pharyngeal arch artery morphology ( J:90988 )

• at E11.5, the 3rd arteries display bilaterally inappropriate regression

abnormal aortic arch morphology ( J:90988 )

• aortic arch defects

abnormal aortic arch and aortic arch branch attachment ( J:90988 )

• 77% exhibit either a short or missing brachiocephalic artery so that the right common carotid artery directly branches from the truncus arteriosus

retroesophageal right subclavian artery ( J:90988 )

• 15% penetrance

abnormal brachiocephalic trunk morphology ( J:90988 )

• 77% exhibit either a short or missing brachiocephalic artery

decreased cardiac neural crest cell number ( J:90988 )

• the distal outflow tract has reduced numbers of neural crest cells

absent cardiac neural crest cells ( J:90988 )

• the proximal outflow tract is essentially devoid of neural crest cells

impaired cardiac neural crest cell differentiation ( J:90988 )

• differentiation of neural crest cells to smooth muscle around aortic arch arteries is deficient

abnormal cardiac outflow tract development ( J:90988 )

• the proximal outflow tract is essentially devoid of neural crest cells while the distal outflow tract has reduced numbers of neural crest cells

conotruncal ridge hypoplasia ( J:90988 )

• outflow tract cushions are reduced in size

persistent truncus arteriosus ( J:90988 )

• 100% penentrance or persistent truncus arteriosus type A2 (complete failure of outflow tract septation)

ventricular septal defect ( J:90988 )

• persistent truncus arteriosus is associated with a ventricular septation defect

enlarged heart ( J:90988 )

• 100% penetrance

increased heart right ventricle size ( J:90988 )

• 85% show hyperplastic right ventricle

nervous system

decreased cardiac neural crest cell number ( J:90988 )

• the distal outflow tract has reduced numbers of neural crest cells

absent cardiac neural crest cells ( J:90988 )

• the proximal outflow tract is essentially devoid of neural crest cells

impaired cardiac neural crest cell differentiation ( J:90988 )

• differentiation of neural crest cells to smooth muscle around aortic arch arteries is deficient

craniofacial

abnormal pharyngeal arch artery morphology ( J:90988 )

• display abnormal regression of the pharyngeal arch arteries

abnormal sixth pharyngeal arch artery morphology ( J:90988 )

• at E11.5, the 6th arteries display bilaterally inappropriate regression

abnormal third pharyngeal arch artery morphology ( J:90988 )

• at E11.5, the 3rd arteries display bilaterally inappropriate regression

abnormal Meckel's cartilage morphology ( J:90453 )

• the anterior cartilage derived from the distal extremity of Meckel's cartilage is absent

• anterior region of Meckel's cartilage displays retarded growth and also fails to fuse at E15

• display approximately a 3-fold reduction in proliferation of chondrocytes in the anterior and interior parts of Meckel's cartilage at E13

large anterior fontanelle ( J:90453 )

• enlarged frontal fontanels in newborns

abnormal frontal bone squamous part morphology ( J:90453 )

• squamous parts of the frontal bones lack ossification towards the metopic region, resulting in enlarged frontal fontanels in newborns

absent retrotympanic process ( J:90453 )

• squamal bones lack the retrotympanic process

small temporal bone squamous part ( J:90453 )

• the temporal squama is smaller, lacking the lower portion with the mandibular fossa and its joint cartilage

absent temporal bone zygomatic process ( J:90453 )

• completely absent zygomatic process of the squamal bone

abnormal zygomatic arch morphology ( J:90453 )

• zygomatic arches are incomplete in newborns, with developed maxillary zygomatic process but completely absent jugal (zygomatic) bone and zygomatic process of the squamal bone

abnormal mandible morphology ( J:90453 )

abnormal mandibular fossa morphology ( J:90453 )

• the mandibular fossa and its joint cartilage are missing

small mandibular coronoid process ( J:90453 )

• coronoid process of the mandible is rudimentary in size

absent mandibular symphysis ( J:90453 )

• the mental symphysis is not formed resulting in persistently separate mandibular bones

absent temporomandibular joint ( J:90453 )

• the temporomandibular articulation is undetectable

mandible hypoplasia ( J:90453 )

• hypotrophic mandible is apparent as early as E14

short mandible ( J:90453 )

• mandible is about 40% shorter

absent zygomatic bone ( J:90453 )

• completely absent jugal (zygomatic) bone

abnormal malleus morphology ( J:90453 )

short malleus manubrium ( J:90453 )

• slightly shorter manubrium mallei

cleft secondary palate ( J:90453 )

• complete cleft of the secondary palate

abnormal palatal shelf elevation ( J:90453 )

• palatal shelves fail to elevate, either bilaterally or unilaterally, at E14

delayed palatal shelf elevation ( J:90453 )

• in newborns, the unfused palatal shelves are bilaterally elevated, indicating that cleft palate develops as a result of delayed, asynchronous elevation of palatal shelves

shortened head ( J:90453 )

• newborns have a shorter head

embryo

abnormal pharyngeal arch artery morphology ( J:90988 )

• display abnormal regression of the pharyngeal arch arteries

abnormal sixth pharyngeal arch artery morphology ( J:90988 )

• at E11.5, the 6th arteries display bilaterally inappropriate regression

abnormal third pharyngeal arch artery morphology ( J:90988 )

• at E11.5, the 3rd arteries display bilaterally inappropriate regression

decreased cardiac neural crest cell number ( J:90988 )

• the distal outflow tract has reduced numbers of neural crest cells

absent cardiac neural crest cells ( J:90988 )

• the proximal outflow tract is essentially devoid of neural crest cells

impaired cardiac neural crest cell differentiation ( J:90988 )

• differentiation of neural crest cells to smooth muscle around aortic arch arteries is deficient

abnormal cardiac neural crest cell migration ( J:90988 )

• migration of mutant neural crest cells to the outflow tract is impaired

behavior/neurological

abnormal suckling behavior ( J:90453 )

• newborns lack milk in stomachs and fail to suckle

digestive/alimentary system

cleft secondary palate ( J:90453 )

• complete cleft of the secondary palate

abnormal palatal shelf elevation ( J:90453 )

• palatal shelves fail to elevate, either bilaterally or unilaterally, at E14

delayed palatal shelf elevation ( J:90453 )

• in newborns, the unfused palatal shelves are bilaterally elevated, indicating that cleft palate develops as a result of delayed, asynchronous elevation of palatal shelves

hearing/vestibular/ear

abnormal malleus morphology ( J:90453 )

short malleus manubrium ( J:90453 )

• slightly shorter manubrium mallei

skeleton

large anterior fontanelle ( J:90453 )

• enlarged frontal fontanels in newborns

abnormal frontal bone squamous part morphology ( J:90453 )

• squamous parts of the frontal bones lack ossification towards the metopic region, resulting in enlarged frontal fontanels in newborns

absent retrotympanic process ( J:90453 )

• squamal bones lack the retrotympanic process

small temporal bone squamous part ( J:90453 )

• the temporal squama is smaller, lacking the lower portion with the mandibular fossa and its joint cartilage

absent temporal bone zygomatic process ( J:90453 )

• completely absent zygomatic process of the squamal bone

abnormal zygomatic arch morphology ( J:90453 )

• zygomatic arches are incomplete in newborns, with developed maxillary zygomatic process but completely absent jugal (zygomatic) bone and zygomatic process of the squamal bone

abnormal mandible morphology ( J:90453 )

abnormal mandibular fossa morphology ( J:90453 )

• the mandibular fossa and its joint cartilage are missing

small mandibular coronoid process ( J:90453 )

• coronoid process of the mandible is rudimentary in size

absent mandibular symphysis ( J:90453 )

• the mental symphysis is not formed resulting in persistently separate mandibular bones

absent temporomandibular joint ( J:90453 )

• the temporomandibular articulation is undetectable

mandible hypoplasia ( J:90453 )

• hypotrophic mandible is apparent as early as E14

short mandible ( J:90453 )

• mandible is about 40% shorter

absent zygomatic bone ( J:90453 )

• completely absent jugal (zygomatic) bone

abnormal malleus morphology ( J:90453 )

short malleus manubrium ( J:90453 )

• slightly shorter manubrium mallei

abnormal cartilage morphology ( J:90453 )

• secondary cartilage of the mandibular condyle does not develop, making the temporomandibular articulation undetectable

• the secondary cartilage of the mandibular angular process is completely missing

abnormal Meckel's cartilage morphology ( J:90453 )

• the anterior cartilage derived from the distal extremity of Meckel's cartilage is absent

• anterior region of Meckel's cartilage displays retarded growth and also fails to fuse at E15

• display approximately a 3-fold reduction in proliferation of chondrocytes in the anterior and interior parts of Meckel's cartilage at E13

cellular

impaired cardiac neural crest cell differentiation ( J:90988 )

• differentiation of neural crest cells to smooth muscle around aortic arch arteries is deficient

abnormal cardiac neural crest cell migration ( J:90988 )

• migration of mutant neural crest cells to the outflow tract is impaired

growth/size/body

enlarged heart ( J:90988 )

• 100% penetrance

cleft secondary palate ( J:90453 )

• complete cleft of the secondary palate

abnormal palatal shelf elevation ( J:90453 )

• palatal shelves fail to elevate, either bilaterally or unilaterally, at E14

delayed palatal shelf elevation ( J:90453 )

• in newborns, the unfused palatal shelves are bilaterally elevated, indicating that cleft palate develops as a result of delayed, asynchronous elevation of palatal shelves

shortened head ( J:90453 )

• newborns have a shorter head

Genotype
MGI:3710237

cn60

• Allelic Composition: Nf1^tm1Par/Nf1^tm1Par; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

growth/size/body

decreased body size ( J:80323 )

respiratory system

respiratory failure ( J:80323 )

• pups do not initiate normal respiration

nervous system

abnormal adrenergic chromaffin cell morphology ( J:80323 )

• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

increased ganglioneuroma incidence ( J:80323 )

increased gangliosarcoma incidence ( J:80323 )

abnormal sympathetic ganglion morphology ( J:80323 )

• massively enlarged sympathetic ganglia that consist of axons that stain for neurofilament and small cell bodies with large nuclei that express tyrosine hydroxylase, a morphology consistent with ganglioneuroma or ganglioneurosarcoma

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:80323 )

abnormal adrenal cortex morphology ( J:80323 )

• a thinning and distortion of the adrenal cortex

thin adrenal cortex ( J:80323 )

abnormal adrenergic chromaffin cell morphology ( J:80323 )

• increase in the number of adrenal medullary cells, suggesting pheochromocytoma

enlarged adrenal glands ( J:80323 )

increased pheochromocytoma incidence ( J:80323 )

neoplasm

increased tumor incidence ( J:80323 )

• develop tumors of neural crest origin such as ganglioneuroma, ganglioneurosarcoma, and pheochromocytoma

increased pheochromocytoma incidence ( J:80323 )

increased ganglioneuroma incidence ( J:80323 )

increased gangliosarcoma incidence ( J:80323 )

cardiovascular system

cardiovascular system phenotype ( J:80323 )

N • normal cardiac development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:80323

Genotype
MGI:3711498

cn61

• Allelic Composition: Pygo2^tm1.1Ssp/Pygo2^tm1.2Ssp; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

vision/eye

small lens ( J:121416 )

• at E12.5, lens size is reduced comparable to Pygo2^tm1Lan/Pygo2^tm1.1Lan mice

Genotype
MGI:3817490

cn62

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Isl1^tm2Sev/Isl1^tm2Sev; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:141110 )

• mice die within a few hours of birth

nervous system

abnormal sensory neuron innervation pattern ( J:141110 )

• cutaneous branch of the ventral ramus is absent in E14.5 embryos

• innervation of the distal limbs at E14.5 confirmed a nearly complete loss of fine cutaneous sensory fibers with only a single sensory branch innervating one side of digits 1, 2 and 5 in both the forelimb and hindlimb

abnormal trigeminal ganglion morphology ( J:141110 )

• there is an increased rate of apoptosis within the trigeminal ganglia of E11.5 and E12.5 embryos

abnormal dorsal root ganglion morphology ( J:141110 )

• the dorsal root ganglion (DRG) of E12.5 embryos do not express Isl1 protein

• TrkA⁺ neurons are lower in number starting at E12.5 and by E14.5 are less than one-third of what is found in controls

• TrkB⁺ neurons are also lower in number starting at E12.5 and are markedly reduced at E14.5 and birth

• TrkC⁺ neurons do not appear until E12.5, a delay of two days compared to controls

dorsal root ganglion hypoplasia ( J:141110 )

• the DRG of E14.5 embryos is markedly smaller than controls with a smaller number neurons found within the ganglion

• an increased rate of apoptosis is noted in the E12.5 DRG

behavior/neurological

decreased chemical nociceptive threshold ( J:141110 )

• mice have a reduced response to a mild noxious stimulus that was applied to the skin of the trunk or limbs

Genotype
MGI:3623411

cn63

• Allelic Composition: Tgfbr2^tm1Karl/Tgfbr2^tm1Karl; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality ( J:96359 )

craniofacial

abnormal craniofacial bone morphology ( J:96359 )

• malformations of cranial bones at E18

palatal shelves fail to meet at midline ( J:96359 )

cleft secondary palate ( J:96359 )

cardiovascular system

abnormal aortic arch and aortic arch branch attachment ( J:96359 )

• abnormal branching of the left carotid artery from the brachiocephalic trunk in mutant mice

blood vessel congestion ( J:96359 )

• venous congestion

persistent truncus arteriosus ( J:96359 )

• defective separation of the aorta from the pulmonary trunk, leading to persistent truncus arteriosis

ventricular septal defect ( J:96359 )

abnormal blood vessel physiology ( J:96359 )

abnormal vasodilation ( J:96359 )

• exhibit vasodilatation of the jugular veins

congestive heart failure ( J:96359 )

• heart defects lead to functional right-sided heart failure with venous congestion, resulting in a vasodilatation of the jugular veins

endocrine/exocrine glands

abnormal parathyroid gland morphology ( J:96359 )

absent parathyroid glands ( J:96359 )

• 2 of 5 do not have parathyroid glands

parathyroid hypoplasia ( J:96359 )

• 3 of 5 exhibit hypoplastic parathyroid glands at E18

small thymus ( J:96359 )

• thymus gland is 58% the size of wild-type at E18

immune system

small thymus ( J:96359 )

• thymus gland is 58% the size of wild-type at E18

nervous system

abnormal neural crest cell morphology ( J:96359 )

• defect in neural crest cell differentiation in the pharyngeal apparatus but not in the migration or survival of neural crest cells

• absence of neural crest-derived smooth muscle cells

abnormal midbrain morphology ( J:96359 )

• midbrain abnormalities

abnormal hindbrain morphology ( J:96359 )

• hindbrain abnormalities

skeleton

abnormal craniofacial bone morphology ( J:96359 )

• malformations of cranial bones at E18

abnormal cartilage morphology ( J:96359 )

• malformation of cartilage at E18

hematopoietic system

small thymus ( J:96359 )

• thymus gland is 58% the size of wild-type at E18

digestive/alimentary system

palatal shelves fail to meet at midline ( J:96359 )

cleft secondary palate ( J:96359 )

embryo

abnormal neural crest cell morphology ( J:96359 )

• defect in neural crest cell differentiation in the pharyngeal apparatus but not in the migration or survival of neural crest cells

• absence of neural crest-derived smooth muscle cells

muscle

abnormal vasodilation ( J:96359 )

• exhibit vasodilatation of the jugular veins

growth/size/body

palatal shelves fail to meet at midline ( J:96359 )

cleft secondary palate ( J:96359 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:96359

Genotype
MGI:3623951

cn64

• Allelic Composition: Gata6^tm2Msp/Gata6^tm2Msp; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:107814 )

• die between E18.5 and P1

cardiovascular system

abnormal cardiovascular system morphology ( J:107814 )

• exhibit a spectrum of aortic arch patterning and cardiac outflow tract septation defects indistinguishable from those seen in mice homozygous for Gata6^tm2Msp and hemizygous for Tg(Tagln-cre)1Jjl

retroesophageal right subclavian artery ( J:107814 )

aortic arch hypoplasia ( J:107814 )

• hypoplastic aortic arch

interrupted aortic arch ( J:107814 )

persistent truncus arteriosus ( J:107814 )

• seen as early as E9.5

double outlet right ventricle ( J:107814 )

perimembraneous ventricular septal defect ( J:107814 )

• membranous ventricular septal defect

Genotype
MGI:3711516

cn65

• Allelic Composition: Pygo2^tm1.1Ssp/Pygo2^tm1.2Ssp; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Pax6-cre,GFP)1Pgr/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * FVB

vision/eye

small lens ( J:121416 )

• at E12.5, lens reduction is more severe that in either single cre cross but not as severe as in the Pygo2 null homozygotes

Genotype
MGI:3703447

cn66

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1^tm1.1Jpa; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * ICR

craniofacial

craniofacial phenotype ( J:81179 )

N • at E9.5, no defects are seen in the early development of the second branchial arch unlike mice homozygous for Fgfr1^tm2Jrt

abnormal craniofacial bone morphology ( J:81179 )

• no enhancement in later craniofacial phenotypes relative to mice homozygous for Fgfr1^tm1Jrt that carry the Tg(Wnt1-cre)11Rth transgene

cleft palate ( J:81179 )

digestive/alimentary system

cleft palate ( J:81179 )

skeleton

abnormal craniofacial bone morphology ( J:81179 )

• no enhancement in later craniofacial phenotypes relative to mice homozygous for Fgfr1^tm1Jrt that carry the Tg(Wnt1-cre)11Rth transgene

growth/size/body

cleft palate ( J:81179 )

Genotype
MGI:3703441

cn67

• Allelic Composition: Fgfr1^tm2Jrt/Fgfr1^tm2Jrt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * ICR

craniofacial

craniofacial phenotype ( J:81179 )

N • the palate is closed, unlike in mice homozygous for Fgfr1^tm2Jrt alone

abnormal alisphenoid bone morphology ( J:81179 )

• posterior part are always affected

abnormal pterygoid bone morphology ( J:81179 )

• flattened

abnormal temporal bone squamous part morphology ( J:81179 )

• posterior part are always affected

abnormal middle ear ossicle morphology ( J:81179 )

abnormal incus morphology ( J:81179 )

• variable deficiencies

abnormal malleus morphology ( J:81179 )

• variable deficiencies

small gonial bone ( J:81179 )

• reduced gonial bone

abnormal second pharyngeal arch morphology ( J:81179 )

• disruption in second branchial arch development is similar to that in Fgfr1^tm2Jrt homozygotes

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:81179 )

abnormal incus morphology ( J:81179 )

• variable deficiencies

abnormal malleus morphology ( J:81179 )

• variable deficiencies

small gonial bone ( J:81179 )

• reduced gonial bone

decreased tympanic ring size ( J:81179 )

• reduced

skeleton

abnormal alisphenoid bone morphology ( J:81179 )

• posterior part are always affected

abnormal pterygoid bone morphology ( J:81179 )

• flattened

abnormal temporal bone squamous part morphology ( J:81179 )

• posterior part are always affected

abnormal middle ear ossicle morphology ( J:81179 )

abnormal incus morphology ( J:81179 )

• variable deficiencies

abnormal malleus morphology ( J:81179 )

• variable deficiencies

small gonial bone ( J:81179 )

• reduced gonial bone

embryo

abnormal second pharyngeal arch morphology ( J:81179 )

• disruption in second branchial arch development is similar to that in Fgfr1^tm2Jrt homozygotes

Genotype
MGI:3703442

cn68

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1^tm1Jpa; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * ICR

craniofacial

craniofacial phenotype ( J:81179 )

N • at E9.5, no defects are seen in the early development of the second branchial arch unlike mice homozygous for Fgfr1^tm2Jrt

N • also, the malleus, incus, stapes, styloid process, tympanic ring, alisphenoid and squamosum are normal

abnormal hyoid bone lesser horn morphology ( J:81179 )

• lesser horn points laterally

cleft palate ( J:81179 )

• in newborns

digestive/alimentary system

cleft palate ( J:81179 )

• in newborns

skeleton

abnormal hyoid bone lesser horn morphology ( J:81179 )

• lesser horn points laterally

growth/size/body

cleft palate ( J:81179 )

• in newborns

Genotype
MGI:3814191

cn69

• Allelic Composition: Ednrb^tm1Nrd/Ednrb^tm1Nrd; Gt(ROSA)26Sor^tm1(EYFP)Cos/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J

mortality/aging

premature death ( J:140320 )

• mice die 5 weeks after birth

growth/size/body

slow postnatal weight gain ( J:140320 )

• after P25

distended abdomen ( J:140320 )

digestive/alimentary system

aganglionic megacolon ( J:140320 )

pigmentation

white spotting ( J:140320 )

• mice lack coat pigment in the trunk

embryo

abnormal enteric neural crest cell migration ( J:140320 )

• enteric neural crest cells fail to reach the anus

integument

white spotting ( J:140320 )

• mice lack coat pigment in the trunk

cellular

abnormal enteric neural crest cell migration ( J:140320 )

• enteric neural crest cells fail to reach the anus

Genotype
MGI:6452819

cn70

• Allelic Composition: Nubp2^{tm1c(EUCOMM)Hmgu}/Nubp2^{tm1c(EUCOMM)Hmgu}; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA/J

embryo

increased cranial neural crest cell apoptosis ( J:284772 )

• reduced +GFP craniofacial neural crest cells in nasal prominences and pharyngeal arches due to increased apoptosis between E9.5 and E10.5

cellular

increased cranial neural crest cell apoptosis ( J:284772 )

• reduced +GFP craniofacial neural crest cells in nasal prominences and pharyngeal arches due to increased apoptosis between E9.5 and E10.5

Genotype
MGI:7336693

cn71

• Allelic Composition: Alx1^em1Jian/Alx1^em1Jian; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * CBA/J

embryo

embryo phenotype ( J:320497 )

N • at E9.5 and E10.5, normal patterns of GFP-labeled cranial neural crest cells (CNCCs) are seen in the frontonasal and periocular regions as well as in the branchial arches

N • at E10.5, the contribution of GFP-labeled CNCCs in the nasal, maxillary, and mandibular processes is similar to that in control embryos

Genotype
MGI:4442469

cn72

• Allelic Composition: Pax3^tm2Joe/Pax3^tm2Joe; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:159124 )

• mutant die immediately after birth

growth/size/body

decreased birth body size ( J:159124 )

• smaller than wild-type littermates at birth

homeostasis/metabolism

cyanosis ( J:159124 )

• cyanotic at birth

muscle

hypaxial muscle hypoplasia ( J:159124 )

• poorly developed limb and diaphragm musculature at birth

• skeletal muscle is severely deficient in the limbs

• severe deficiency of forelimb musculature

respiratory system

respiratory failure ( J:159124 )

• newborns fail to initiate respirations

embryo

spina bifida ( J:159124 )

• occasional mild spina bifida are seen at birth

cardiovascular system

cardiovascular system phenotype ( J:159124 )

N • normal septation of the aorta and pulmonary artery

nervous system

spina bifida ( J:159124 )

• occasional mild spina bifida are seen at birth

Genotype
MGI:4443124

cn73

• Allelic Composition: Kif3a^tm2Gsn/Kif3a^tm2Gsn; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

embryo

increased cranial neural crest cell proliferation ( J:158523 )

• increased neural crest cell proliferation in the facial prominences, as shown by BrdU immunostaining

abnormal cranial neural crest cell morphology ( J:158523 )

• cranial neural crest cells do not extend primary cilia

• primary cilia are truncated in frontonasal prominence

nervous system

abnormal cranial neural crest cell morphology ( J:158523 )

• cranial neural crest cells do not extend primary cilia

• primary cilia are truncated in frontonasal prominence

absent corpus callosum ( J:158523 )

• failure of neural fibers to span the midline

craniofacial

abnormal craniofacial bone morphology ( J:158523 )

• craniofacial skeleton elements are displaced laterally but their maturation is unaffected

abnormal cranium morphology ( J:158523 )

• severely dysmorphic

• anterior cranium occultum

• trabecular basal plate is reduced to bony nodules or absent at E17.5

abnormal basisphenoid bone morphology ( J:158523 )

• is reduced to bony nodules or absent at E17.5

abnormal frontal bone morphology ( J:158523 )

• laterally displaced and underdeveloped resulting in an abnormal opening in the skull

absent mandibular condyloid process ( J:158523 )

absent mandibular ramus ( J:158523 )

• ramus is absent

short mandible ( J:158523 )

• 30% shorter than wild-type

abnormal maxilla morphology ( J:158523 )

• laterally displaced at E17.5

abnormal premaxilla morphology ( J:158523 )

• laterally displaced at E17.5

abnormal nasal bone morphology ( J:158523 )

• laterally displaced at E17.5

abnormal palatine bone morphology ( J:158523 )

• the palatine bones are dysmorphic and do not extend towards the midline

• some small ectopic ossifications are found in the midline which may or may not be fragments of the palatine bones

anterior cranium occultum ( J:158523 )

• presence of an abnormal skin-covered gap in the front of the head

abnormal craniofacial development ( J:158523 )

broad frontonasal prominence ( J:158523 )

• at E11.5 and E12.5 infra-nasal measurements show an increase in frontonasal width

• at E14.5, almost 100% wider than wild-type and at E17.5 120% wider than wild-type

cleft secondary palate ( J:158523 )

abnormal nasal septum morphology ( J:158523 )

• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

digestive/alimentary system

cleft secondary palate ( J:158523 )

skeleton

abnormal craniofacial bone morphology ( J:158523 )

• craniofacial skeleton elements are displaced laterally but their maturation is unaffected

abnormal cranium morphology ( J:158523 )

• severely dysmorphic

• anterior cranium occultum

• trabecular basal plate is reduced to bony nodules or absent at E17.5

abnormal basisphenoid bone morphology ( J:158523 )

• is reduced to bony nodules or absent at E17.5

abnormal frontal bone morphology ( J:158523 )

• laterally displaced and underdeveloped resulting in an abnormal opening in the skull

absent mandibular condyloid process ( J:158523 )

absent mandibular ramus ( J:158523 )

• ramus is absent

short mandible ( J:158523 )

• 30% shorter than wild-type

abnormal maxilla morphology ( J:158523 )

• laterally displaced at E17.5

abnormal premaxilla morphology ( J:158523 )

• laterally displaced at E17.5

abnormal nasal bone morphology ( J:158523 )

• laterally displaced at E17.5

abnormal palatine bone morphology ( J:158523 )

• the palatine bones are dysmorphic and do not extend towards the midline

• some small ectopic ossifications are found in the midline which may or may not be fragments of the palatine bones

anterior cranium occultum ( J:158523 )

• presence of an abnormal skin-covered gap in the front of the head

respiratory system

abnormal nasal bone morphology ( J:158523 )

• laterally displaced at E17.5

abnormal nasal septum morphology ( J:158523 )

• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

vision/eye

ocular hypertelorism ( J:158523 )

cellular

increased cranial neural crest cell proliferation ( J:158523 )

• increased neural crest cell proliferation in the facial prominences, as shown by BrdU immunostaining

growth/size/body

abnormal nasal bone morphology ( J:158523 )

• laterally displaced at E17.5

cleft secondary palate ( J:158523 )

abnormal nasal septum morphology ( J:158523 )

• at E12.5, septum is evident as a bifid condensation and by E16.5 a duplicated nasal septum is present

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dysostosis		DOID:1934		J:158523

Genotype
MGI:4943277

cn74

• Allelic Composition: Ndst1^tm1Grob/Ndst1^tm1Grob; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

vision/eye

vision/eye phenotype ( J:130571 )

N • lacrimal gland development is normal

Genotype
MGI:5430386

cn75

• Allelic Composition: Ndst1^tm1Grob/Ndst1^tm1Grob; Ndst2^tm1Lkj/Ndst2^tm1Lkj; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

vision/eye

abnormal lacrimal gland development ( J:185652 )

• disruption of lacrimal gland budding

absent lacrimal glands ( J:185652 )

endocrine/exocrine glands

abnormal lacrimal gland development ( J:185652 )

• disruption of lacrimal gland budding

absent lacrimal glands ( J:185652 )

Genotype
MGI:5659973

cn76

• Allelic Composition: Dph1^tm1.1Cmch/Dph1^tm1.1Cmch; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

postnatal lethality, incomplete penetrance ( J:214744 )

• 11.1% mice are viable at weaning, indicating partial lethality

craniofacial

short Meckel's cartilage ( J:214744 )

• length of Meckel's cartilage is shorter

decreased cranium length ( J:214744 )

• skull length is shorter at P0 with an approximate 5% reduction

• skull of surviving adult mice is shorter in length

short mandible ( J:214744 )

• mandible length is shorter in embryos, at P0 and 4 weeks of age

short nasal bone ( J:214744 )

round face ( J:214744 )

• some mice that survive to adulthood exhibit a round facial structure

cleft palate ( J:214744 )

• embryos exhibit a mucous cleft palate with a separation between the palate and the nasal septum at E17.5

• ossified palatine bones with a gap are seen at P0

growth/size/body

short nasal bone ( J:214744 )

round face ( J:214744 )

• some mice that survive to adulthood exhibit a round facial structure

cleft palate ( J:214744 )

• embryos exhibit a mucous cleft palate with a separation between the palate and the nasal septum at E17.5

• ossified palatine bones with a gap are seen at P0

digestive/alimentary system

cleft palate ( J:214744 )

• embryos exhibit a mucous cleft palate with a separation between the palate and the nasal septum at E17.5

• ossified palatine bones with a gap are seen at P0

skeleton

short Meckel's cartilage ( J:214744 )

• length of Meckel's cartilage is shorter

decreased cranium length ( J:214744 )

• skull length is shorter at P0 with an approximate 5% reduction

• skull of surviving adult mice is shorter in length

short mandible ( J:214744 )

• mandible length is shorter in embryos, at P0 and 4 weeks of age

short nasal bone ( J:214744 )

respiratory system

short nasal bone ( J:214744 )

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

Genotype
MGI:5659974

cn77

• Allelic Composition: Dph1^tm1.1Cmch/Dph1^tm1.1Cmch; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

craniofacial

small nasal bone ( J:214744 )

• areas of nasal bones is reduced by about 20% at P0

skeleton

small nasal bone ( J:214744 )

• areas of nasal bones is reduced by about 20% at P0

growth/size/body

small nasal bone ( J:214744 )

• areas of nasal bones is reduced by about 20% at P0

respiratory system

small nasal bone ( J:214744 )

• areas of nasal bones is reduced by about 20% at P0

Genotype
MGI:5660194

cn78

• Allelic Composition: Mapk1^tm1Gela/Mapk1^tm1Gela; H2az2^{Tg(Wnt1-cre)11Rth}/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:144862 )

• although present in late gestation, no viable neonates are detected

craniofacial

mandible hypoplasia ( J:144862 )

short maxilla ( J:144862 )

cleft palate ( J:144862 )

cardiovascular system

persistent truncus arteriosus ( J:144862 )

• in 1 of 5 mice at E16.5

double outlet right ventricle ( J:144862 )

• in 1 of 4 mice at E17.5

ventricular septal defect ( J:144862 )

• in 2 of 5 mice at E16.5

endocrine/exocrine glands

abnormal thymus morphology ( J:144862 )

• in 1 of 5 mice at E16.5

abnormal thyroid gland morphology ( J:144862 )

• in 1 of 5 mice at E16.5

growth/size/body

cleft palate ( J:144862 )

digestive/alimentary system

cleft palate ( J:144862 )

immune system

abnormal thymus morphology ( J:144862 )

• in 1 of 5 mice at E16.5

hematopoietic system

abnormal thymus morphology ( J:144862 )

• in 1 of 5 mice at E16.5

skeleton

mandible hypoplasia ( J:144862 )

short maxilla ( J:144862 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
velocardiofacial syndrome		DOID:12583	OMIM:192430	J:144862

Genotype
MGI:5660196

cn79

• Allelic Composition: Mapk1^tm1Gela/Mapk1^tm1Gela; Mapk3^tm1Gela/Mapk3⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

growth/size/body

cleft palate ( J:144862 )

• more severe than in mice with normal Mapk3

absent tongue ( J:144862 )

craniofacial

mandible hypoplasia ( J:144862 )

• more severe than in mice with normal Mapk3

short maxilla ( J:144862 )

• more severe than in mice with normal Mapk3

cleft palate ( J:144862 )

• more severe than in mice with normal Mapk3

absent tongue ( J:144862 )

cardiovascular system

persistent truncus arteriosus ( J:144862 )

• in 3 of 3 mice at E16.5 and E17.5

ventricular septal defect ( J:144862 )

• in 3 of 3 mice at E16.5 and E17.5

endocrine/exocrine glands

abnormal thymus morphology ( J:144862 )

• single-lobed, fused and misplaced

abnormal thyroid gland morphology ( J:144862 )

• singled-lobed and medially localized

digestive/alimentary system

cleft palate ( J:144862 )

• more severe than in mice with normal Mapk3

absent tongue ( J:144862 )

hematopoietic system

abnormal thymus morphology ( J:144862 )

• single-lobed, fused and misplaced

immune system

abnormal thymus morphology ( J:144862 )

• single-lobed, fused and misplaced

skeleton

mandible hypoplasia ( J:144862 )

• more severe than in mice with normal Mapk3

short maxilla ( J:144862 )

• more severe than in mice with normal Mapk3

vision/eye

abnormal eye distance/ position ( J:144862 )

Genotype
MGI:5660197

cn80

• Allelic Composition: Mapk1^tm1Gela/Mapk1^tm1Gela; Mapk3^tm1Gela/Mapk3^tm1Gela; H2az2^{Tg(Wnt1-cre)11Rth}/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

craniofacial

absent mandible ( J:144862 )

short maxilla ( J:144862 )

• more severe than in mice heterozygous for Mapk3^tm1Gela

small pharyngeal arch ( J:144862 )

• at E10.5

absent tongue ( J:144862 )

absent outer ear ( J:144862 )

growth/size/body

absent tongue ( J:144862 )

absent outer ear ( J:144862 )

decreased body length ( J:144862 )

cardiovascular system

persistent truncus arteriosus ( J:144862 )

• in 5 of 5 mice at E16.5 and E17.5

ventricular septal defect ( J:144862 )

• in 5 of 5 mice at E16.5 and E17.5

endocrine/exocrine glands

athymia ( J:144862 )

abnormal thyroid gland morphology ( J:144862 )

• singled-lobed and medially localized

digestive/alimentary system

absent tongue ( J:144862 )

embryo

small pharyngeal arch ( J:144862 )

• at E10.5

hearing/vestibular/ear

absent outer ear ( J:144862 )

hematopoietic system

athymia ( J:144862 )

immune system

athymia ( J:144862 )

skeleton

absent mandible ( J:144862 )

short maxilla ( J:144862 )

• more severe than in mice heterozygous for Mapk3^tm1Gela

vision/eye

abnormal eye distance/ position ( J:144862 )

Genotype
MGI:6152756

cn81

• Allelic Composition: Tfap2b^tm1Rbu/Tfap2b^tm2Will; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

vision/eye

abnormal eye morphology ( J:234170 )

• presence of a severe and fully penetrant closed angle phenotype that develops prior to 2 months of age indicating glaucomatous pathology

decreased amacrine cell number ( J:234170 )

• mice exhibit fewer displaced amacrine cells in the ganglion cell layer at 2 months of age

retina ganglion cell degeneration ( J:234170 )

• loss of retinal ganglion cells and their axons in 2 month old retina, with loss of axons occurring in a segmental, fan-shaped manner

abnormal optic disk morphology ( J:234170 )

• damage of the optic nerve head

optic nerve cupping ( J:234170 )

• retinal ganglion cell axon loss is associated with damage of the optic nerve head, indicative of excavation or cupping

optic nerve degeneration ( J:234170 )

• optic nerves exhibit decreased number of myelinated axons, the presence of degenerating axons and areas of severe atrophy in 2 month old mice

optic nerve atrophy ( J:234170 )

• areas of severe optic nerve atrophy is seen in 2 month old mice

abnormal iridocorneal angle ( J:234170 )

• the iridocorneal angle is disrupted with the iris adherent to the cornea, creating a closed angle phenotype

• defects in the angle tissue are present at E18.5

abnormal ciliary body morphology ( J:234170 )

• the ciliary body is malformed in 2-3 month old mice and is potentially rudimentary as it lacks its normally convoluted and lobulated structure

abnormal cornea morphology ( J:234170 )

• at E15.5, the cornea is less compact, with large gaps within the stroma

• multiple defects of the corneal layers derived from the periocular mesenchyme are seen in 2-3 month old mice, including the lack of a clear endothelial layer and a less cohesive corneal stroma

• corneolenticular adhesion

cornea vascularization ( J:234170 )

• presence of red blood cells in the corneal stroma at E18.5

• marker analysis indicates the presence of blood vessels in the cornea of 2 month old mice, indicating vascularization of the cornea

anterior iris synechia ( J:234170 )

• the iris is adherent to the cornea

• adhesion between the cornea and iris detected 360 degrees around the eye

absent cornea endothelium ( J:234170 )

• lack of a clear endothelial layer in the cornea of 2-3 month old mice

• defects in the corneal endothelium are present at E18.5

abnormal cornea epithelium morphology ( J:234170 )

• 2-3 month old mice exhibit reduced stratification of the corneal epithelial layer

decreased cornea epithelium thickness ( J:234170 )

• the corneal epithelial layer is reduced in thickness

abnormal cornea stroma morphology ( J:234170 )

• large gaps within the stroma are seen at E15.5

• the corneal stroma is less cohesive in 2-3 month old mice

fused cornea and lens ( J:234170 )

• cornea and lens adhere to one another at E15.5

abnormal eye anterior chamber morphology ( J:234170 )

• multiple malformations of the anterior chamber are seen in 2-3 month old mice

abnormal lens epithelium morphology ( J:234170 )

• lens epithelium is disorganized and multi-layered in 2-3 month old mice, characteristic of a cataract

anterior subcapsular cataract ( J:234170 )

thin retina inner plexiform layer ( J:234170 )

decreased total retina thickness ( J:234170 )

• retinal thickness is decreased in 2-3 month old mice, mainly due to thinning of the inner plexiform layer

eye opacity ( J:234170 )

• ocular opacity is seen after eyelid opening that persists as mice age

ocular hypertension ( J:234170 )

• approximate 3-fold elevation of intraocular pressure is seen in 3 month old mice

cardiovascular system

cornea vascularization ( J:234170 )

• presence of red blood cells in the corneal stroma at E18.5

• marker analysis indicates the presence of blood vessels in the cornea of 2 month old mice, indicating vascularization of the cornea

nervous system

gliosis ( J:234170 )

• expression of GFAP is upregulated in Muller glia, indicating gliosis

decreased amacrine cell number ( J:234170 )

• mice exhibit fewer displaced amacrine cells in the ganglion cell layer at 2 months of age

retina ganglion cell degeneration ( J:234170 )

• loss of retinal ganglion cells and their axons in 2 month old retina, with loss of axons occurring in a segmental, fan-shaped manner

abnormal optic disk morphology ( J:234170 )

• damage of the optic nerve head

optic nerve cupping ( J:234170 )

• retinal ganglion cell axon loss is associated with damage of the optic nerve head, indicative of excavation or cupping

optic nerve degeneration ( J:234170 )

• optic nerves exhibit decreased number of myelinated axons, the presence of degenerating axons and areas of severe atrophy in 2 month old mice

optic nerve atrophy ( J:234170 )

• areas of severe optic nerve atrophy is seen in 2 month old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
angle-closure glaucoma		DOID:13550		J:234170

Genotype
MGI:6342278

cn82

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Piga^tm1Tak/Y
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

craniofacial

abnormal craniofacial bone morphology ( J:277316 )

♂ • at age E16.6

cleft upper lip ( J:277316 )

♂ • at age E15.5-16.6

cleft palate ( J:277316 )

♂ • at age E15.5-16.6

skeleton

abnormal craniofacial bone morphology ( J:277316 )

♂ • at age E16.6

digestive/alimentary system

cleft palate ( J:277316 )

♂ • at age E15.5-16.6

growth/size/body

cleft upper lip ( J:277316 )

♂ • at age E15.5-16.6

cleft palate ( J:277316 )

♂ • at age E15.5-16.6

Genotype
MGI:7339125

cn83

• Allelic Composition: Fgfr1^tm1Jpa/Fgfr1^tm1Jpa; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

craniofacial

abnormal tooth development ( J:298139 )

• embryos exhibit severe tooth bud defects

micrognathia ( J:298139 )

abnormal medial nasal prominence morphology ( J:298139 )

• development of medial nasal processes is impaired

abnormal palatal mesenchymal cell proliferation ( J:298139 )

• cell proliferation is delayed in the mesenchymal compartment of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5

abnormal secondary palate development ( J:298139 )

• immunostaining of coronal sections of E14.5 embryos with anti-phosphorylated Smad1/5/8 showed increased BMP signaling especially in the anterior part of palate shelves

• cell proliferation is delayed in both the epithelial and mesenchymal compartments of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5

palatal shelves fail to meet at midline ( J:298139 )

• at E14.5, palatal shelves are widely separated allowing direct view of the presphenoid bone

persistence of medial edge epithelium during palatal shelf fusion ( J:298139 )

• ex vivo, dissected E13.5 palate shelves placed in proximal apposition do fuse after 2 days in culture but the gap between the two shelves is not fully filled by mesenchymal cells and a fraction of midline epithelial seam is still present while expression of epithelial cytokeratins is not completely eliminated in the medial edge epithelium (MEE), unlike in control palate shelves

• degeneration of the MEE is compromised, as shown by less defused E-cadherin staining and a lower number of TUNEL+ apoptotic cells in MEE cells at E14.5 and reduced expression of Tgfb3 at E13.5

decreased palatal shelf size ( J:298139 )

• palate shelves appear smaller at E13.5

cleft upper lip ( J:298139 )

• complete cleft lip observed at E14.5 and P0

cleft primary palate ( J:298139 )

• complete cleft primary palate observed at E14.5 and P0

abnormal palatal rugae morphology ( J:298139 )

• partially formed palate rugae observed at P0

cleft secondary palate ( J:298139 )

• complete secondary palate observed at E14.5 and P0

failure of palatal shelf elevation ( J:298139 )

• palate shelves continue to grow downward at both anterior and posterior positions at E14.5 and fail to elevate and complete fusion even at E15.5

complete cleft palate ( J:298139 )

abnormal tongue position ( J:298139 )

• tongue position is heightened at E14.5

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:298139 )

• cell proliferation is delayed in the mesenchymal compartment of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5

abnormal secondary palate development ( J:298139 )

• immunostaining of coronal sections of E14.5 embryos with anti-phosphorylated Smad1/5/8 showed increased BMP signaling especially in the anterior part of palate shelves

• cell proliferation is delayed in both the epithelial and mesenchymal compartments of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5

palatal shelves fail to meet at midline ( J:298139 )

• at E14.5, palatal shelves are widely separated allowing direct view of the presphenoid bone

persistence of medial edge epithelium during palatal shelf fusion ( J:298139 )

• ex vivo, dissected E13.5 palate shelves placed in proximal apposition do fuse after 2 days in culture but the gap between the two shelves is not fully filled by mesenchymal cells and a fraction of midline epithelial seam is still present while expression of epithelial cytokeratins is not completely eliminated in the medial edge epithelium (MEE), unlike in control palate shelves

• degeneration of the MEE is compromised, as shown by less defused E-cadherin staining and a lower number of TUNEL+ apoptotic cells in MEE cells at E14.5 and reduced expression of Tgfb3 at E13.5

decreased palatal shelf size ( J:298139 )

• palate shelves appear smaller at E13.5

cleft primary palate ( J:298139 )

• complete cleft primary palate observed at E14.5 and P0

abnormal palatal rugae morphology ( J:298139 )

• partially formed palate rugae observed at P0

cleft secondary palate ( J:298139 )

• complete secondary palate observed at E14.5 and P0

failure of palatal shelf elevation ( J:298139 )

• palate shelves continue to grow downward at both anterior and posterior positions at E14.5 and fail to elevate and complete fusion even at E15.5

complete cleft palate ( J:298139 )

abnormal tongue position ( J:298139 )

• tongue position is heightened at E14.5

growth/size/body

abnormal tooth development ( J:298139 )

• embryos exhibit severe tooth bud defects

abnormal palatal mesenchymal cell proliferation ( J:298139 )

• cell proliferation is delayed in the mesenchymal compartment of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5

abnormal secondary palate development ( J:298139 )

• immunostaining of coronal sections of E14.5 embryos with anti-phosphorylated Smad1/5/8 showed increased BMP signaling especially in the anterior part of palate shelves

• cell proliferation is delayed in both the epithelial and mesenchymal compartments of palate shelves; BrdU incorporation assays showed reduced cell proliferation at E12.5-13.5 but enhanced proliferation at E14.5

palatal shelves fail to meet at midline ( J:298139 )

• at E14.5, palatal shelves are widely separated allowing direct view of the presphenoid bone

persistence of medial edge epithelium during palatal shelf fusion ( J:298139 )

• ex vivo, dissected E13.5 palate shelves placed in proximal apposition do fuse after 2 days in culture but the gap between the two shelves is not fully filled by mesenchymal cells and a fraction of midline epithelial seam is still present while expression of epithelial cytokeratins is not completely eliminated in the medial edge epithelium (MEE), unlike in control palate shelves

• degeneration of the MEE is compromised, as shown by less defused E-cadherin staining and a lower number of TUNEL+ apoptotic cells in MEE cells at E14.5 and reduced expression of Tgfb3 at E13.5

decreased palatal shelf size ( J:298139 )

• palate shelves appear smaller at E13.5

cleft upper lip ( J:298139 )

• complete cleft lip observed at E14.5 and P0

cleft primary palate ( J:298139 )

• complete cleft primary palate observed at E14.5 and P0

abnormal palatal rugae morphology ( J:298139 )

• partially formed palate rugae observed at P0

cleft secondary palate ( J:298139 )

• complete secondary palate observed at E14.5 and P0

failure of palatal shelf elevation ( J:298139 )

• palate shelves continue to grow downward at both anterior and posterior positions at E14.5 and fail to elevate and complete fusion even at E15.5

complete cleft palate ( J:298139 )

abnormal tongue position ( J:298139 )

• tongue position is heightened at E14.5

skeleton

abnormal tooth development ( J:298139 )

• embryos exhibit severe tooth bud defects

micrognathia ( J:298139 )

Genotype
MGI:7380333

cn84

• Allelic Composition: Has2^tm1.1Chg/Has2^tm1.1Chg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:283393 )

• die within hours of birth due to respiratory and feeding difficulties

craniofacial

abnormal Meckel's cartilage morphology ( J:283393 )

• at E14.5, hyaluronic acid is only sporadically present

short Meckel's cartilage ( J:283393 )

• at E13.5

abnormal mandible morphology ( J:283393 )

• at E14.5, hyaluronic acid content is reduced in the mesenchymal cells

short mandible ( J:283393 )

• shorter but wider

abnormal maxilla morphology ( J:283393 )

• at E14.5, hyaluronic acid content is reduced in the mesenchymal cells

micrognathia ( J:283393 )

abnormal palate development ( J:283393 )

• at E13.5, hyaluronic acid content is reduced and not uniformly present in the palatal mesenchyme unlike in wild-type controls

• at E14.5, hyaluronic acid content is increased in the anterior palatal mesenchyme but lower in the posterior palatal mesenchyme and almost absent in the medial aspect compared to E13.5 embryos

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

• at E13.5, ECM space is reduced and mesenchymal cell density is increased in palatal shelves

failure of palatal shelf elevation ( J:283393 )

• remain lateral to the tongue at P0

decreased palatal shelf size ( J:283393 )

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

abnormal oral cavity morphology ( J:283393 )

• reduced vertical dimension of the oral-nasal cavity

complete cleft palate ( J:283393 )

• complete cleft palate

protruding tongue ( J:283393 )

• tongue occupies the entire oral-nasal cavity at P0

increased tongue size ( J:283393 )

• appears wider at early E14.5

skeleton

abnormal Meckel's cartilage morphology ( J:283393 )

• at E14.5, hyaluronic acid is only sporadically present

short Meckel's cartilage ( J:283393 )

• at E13.5

abnormal mandible morphology ( J:283393 )

• at E14.5, hyaluronic acid content is reduced in the mesenchymal cells

short mandible ( J:283393 )

• shorter but wider

abnormal maxilla morphology ( J:283393 )

• at E14.5, hyaluronic acid content is reduced in the mesenchymal cells

micrognathia ( J:283393 )

digestive/alimentary system

abnormal palate development ( J:283393 )

• at E13.5, hyaluronic acid content is reduced and not uniformly present in the palatal mesenchyme unlike in wild-type controls

• at E14.5, hyaluronic acid content is increased in the anterior palatal mesenchyme but lower in the posterior palatal mesenchyme and almost absent in the medial aspect compared to E13.5 embryos

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

• at E13.5, ECM space is reduced and mesenchymal cell density is increased in palatal shelves

failure of palatal shelf elevation ( J:283393 )

• remain lateral to the tongue at P0

decreased palatal shelf size ( J:283393 )

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

complete cleft palate ( J:283393 )

• complete cleft palate

protruding tongue ( J:283393 )

• tongue occupies the entire oral-nasal cavity at P0

increased tongue size ( J:283393 )

• appears wider at early E14.5

growth/size/body

abnormal palate development ( J:283393 )

• at E13.5, hyaluronic acid content is reduced and not uniformly present in the palatal mesenchyme unlike in wild-type controls

• at E14.5, hyaluronic acid content is increased in the anterior palatal mesenchyme but lower in the posterior palatal mesenchyme and almost absent in the medial aspect compared to E13.5 embryos

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

• at E13.5, ECM space is reduced and mesenchymal cell density is increased in palatal shelves

failure of palatal shelf elevation ( J:283393 )

• remain lateral to the tongue at P0

decreased palatal shelf size ( J:283393 )

• at E13.5 and early E14.5, palatal shelves appear similar in shape but are smaller in area compared to controls

abnormal oral cavity morphology ( J:283393 )

• reduced vertical dimension of the oral-nasal cavity

complete cleft palate ( J:283393 )

• complete cleft palate

protruding tongue ( J:283393 )

• tongue occupies the entire oral-nasal cavity at P0

increased tongue size ( J:283393 )

• appears wider at early E14.5

Genotype
MGI:7437666

cn85

• Allelic Composition: Sp8^tm1Smb/Sp8^tm2Smb; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J

craniofacial

craniofacial phenotype ( J:200761 )

N • mice exhibit no detectable craniofacial defects

Genotype
MGI:6368186

cn86

• Allelic Composition: Porcn^tm1.1Lcm/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1

craniofacial

abnormal craniofacial morphology ( J:218165 )

♂

midline cleft upper lip ( J:218165 )

♂ • a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

♂

vision/eye

abnormal retina pigmentation ( J:218165 )

♂ • severe to mild loss of pigment in the dorsal retina pigmented epithelium

♂ • transdifferentiation of dorsal and ventral RPE into retina without increased apoptosis

abnormal anterior eye segment morphology ( J:218165 )

♂

iris hypoplasia ( J:218165 )

♂

decreased cornea thickness ( J:218165 )

♂ • due to reduced cell numbers

failure of eyelid fusion ( J:218165 )

♂ • open eyelids between E16.5 and E18.0 in all mice

coloboma ( J:218165 )

♂ • in most mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

♂

growth/size/body

midline cleft upper lip ( J:218165 )

♂ • a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

♂

digestive/alimentary system

cleft palate ( J:218165 )

♂

pigmentation

abnormal retina pigmentation ( J:218165 )

♂ • severe to mild loss of pigment in the dorsal retina pigmented epithelium

♂ • transdifferentiation of dorsal and ventral RPE into retina without increased apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:218165

Genotype
MGI:6368187

cn87

• Allelic Composition: Porcn^tm1.1Lcm/Porcn⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1

vision/eye

abnormal retina pigmentation ( J:218165 )

♀ • mild loss of pigment in the dorsal retina pigmented epithelium of most mice

coloboma ( J:218165 )

♀ • in some mice

microphthalmia ( J:218165 )

♀ • slightly in affected eyes

pigmentation

abnormal retina pigmentation ( J:218165 )

♀ • mild loss of pigment in the dorsal retina pigmented epithelium of most mice

Genotype
MGI:6368185

cn88

• Allelic Composition: Porcn^tm1.1Lcm/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J * CD-1

craniofacial

abnormal craniofacial morphology ( J:218165 )

♂ • in all mice

abnormal craniofacial development ( J:218165 )

♂ • abnormal development of facial primordia

midline cleft upper lip ( J:218165 )

♂ • a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

♂

vision/eye

coloboma ( J:218165 )

♂ • in some mice

nervous system

abnormal midbrain-hindbrain boundary morphology ( J:218165 )

♂ • in all mice

growth/size/body

midline cleft upper lip ( J:218165 )

♂ • a mild, fully penetrant median cleft lip

cleft palate ( J:218165 )

♂

digestive/alimentary system

cleft palate ( J:218165 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:218165

Genotype
MGI:3715215

cn89

• Allelic Composition: Snai1^tm1Grid/Snai1^tm2Grid; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

normal phenotype

no abnormal phenotype detected ( J:121243 )

• animals are viable, fertile, and exhibit no phenotypic abnormalities

Genotype
MGI:5318528

cn90

• Allelic Composition: Jag1^tm2Grid/Jag1^tm2Grid; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

mortality/aging

premature death ( J:181120 )

• maxilla deficiencies lead to poor feeding and death around one month of age

growth/size/body

malocclusion ( J:181120 )

• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly

midface hypoplasia ( J:181120 )

• midfacial hypoplasia resulting in a reduction in anterior facial width

abnormal palate morphology ( J:181120 )

• the palatal dimensions are proportionally smaller, however the structural components are in tact

• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium

• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5

• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5

abnormal primary palate development ( J:181120 )

• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected

• mutants exhibit delayed palatal shelf elongation

• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants

decreased palatal length ( J:181120 )

• palate shelf height is reduced in both the anterior and posterior regions

decreased body size ( J:181120 )

craniofacial

malocclusion ( J:181120 )

• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly

short maxilla ( J:181120 )

• shortened maxillary regions; anterior-posterior facial length is normal at P0 but over time the mutants exhibit smaller maxillary lengths

• the inframaxillary length and the posterior-anterior length are reduced

midface hypoplasia ( J:181120 )

• midfacial hypoplasia resulting in a reduction in anterior facial width

abnormal palate morphology ( J:181120 )

• the palatal dimensions are proportionally smaller, however the structural components are in tact

• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium

• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5

• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5

abnormal primary palate development ( J:181120 )

• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected

• mutants exhibit delayed palatal shelf elongation

• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants

decreased palatal length ( J:181120 )

• palate shelf height is reduced in both the anterior and posterior regions

skeleton

malocclusion ( J:181120 )

• dental occlusion is misaligned with severe midface hypoplasia requiring trimming of the lower incisors weekly

short maxilla ( J:181120 )

• shortened maxillary regions; anterior-posterior facial length is normal at P0 but over time the mutants exhibit smaller maxillary lengths

• the inframaxillary length and the posterior-anterior length are reduced

behavior/neurological

abnormal eating behavior ( J:181120 )

• mutants exhibit poor feeding after 30 days of age due to malocclusion and require soft mouse chow

cardiovascular system

abnormal blood vessel morphology ( J:181120 )

• mutants exhibit aberrant vascular pattering in the palate; reduced vascular branching in the palate at E14.5 and E15.5, reduced vasculature organization and vessel size, poor vascular smooth muscle investment, and irregular vessel formation

digestive/alimentary system

abnormal palate morphology ( J:181120 )

• the palatal dimensions are proportionally smaller, however the structural components are in tact

• mutants exhibit reduced proliferation in the palate shelves at E14.5 and in the adjacent palatal epithelium

• mutants exhibit reduced hyaluronic acid in the palate shelves at E14.5

• mutants exhibit aberrant vascular pattering in the palate including reduced vascular branching at E14.5 and E15.5

abnormal primary palate development ( J:181120 )

• at E14.5, palatal shelf elevation above the tongue occurs normally but palatal elongation is reduced anteriorly, whereas the posterior palate shelf length is unaffected

• mutants exhibit delayed palatal shelf elongation

• some E15.5 mutants show delayed palate shelf apposition and the persistence of the epithelial seam, however palate fusion occurs in all mutants

decreased palatal length ( J:181120 )

• palate shelf height is reduced in both the anterior and posterior regions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:181120

Genotype
MGI:3851405

cn91

• Allelic Composition: Zfpm2^tm1Sho/Zfpm2^tm2Sho; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

mortality/aging

mortality/aging ( J:150452 )

N • mice survive normally

cardiovascular system

cardiovascular system phenotype ( J:150452 )

N • no detectable defects in heart morphogenesis or coronary development are detected

Genotype
MGI:3715216

cn92

• Allelic Composition: Snai1^tm1Grid/Snai1^tm2Grid; Snai2^tm2Grid/Snai2^tm2Grid; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:121243 )

• resulting from cleft palate

craniofacial

abnormal Meckel's cartilage morphology ( J:121243 )

• the rostral portion of the Meckels cartilage is missing in neonates

frontal bone foramen ( J:121243 )

• enlarged frontal foramen in neonates

short parietal bone ( J:121243 )

• nenates have shortened parietal bones

short mandible ( J:121243 )

• mandible is shorter than in wild-type

domed cranium ( J:121243 )

• in neonates

abnormal palatal shelf morphology ( J:121243 )

• anterior palatal shelves of some double null mutants show subtle size and shape differences relative to wild-type palates at E13.5 and 14.5

cleft palate ( J:121243 )

• neonates show cleft palate

failure of palatal shelf elevation ( J:121243 )

• palatal shelves remain in a vertical growth orientation and fail to elevate

skeleton

abnormal Meckel's cartilage morphology ( J:121243 )

• the rostral portion of the Meckels cartilage is missing in neonates

frontal bone foramen ( J:121243 )

• enlarged frontal foramen in neonates

short parietal bone ( J:121243 )

• nenates have shortened parietal bones

short mandible ( J:121243 )

• mandible is shorter than in wild-type

domed cranium ( J:121243 )

• in neonates

digestive/alimentary system

abnormal palatal shelf morphology ( J:121243 )

• anterior palatal shelves of some double null mutants show subtle size and shape differences relative to wild-type palates at E13.5 and 14.5

cleft palate ( J:121243 )

• neonates show cleft palate

failure of palatal shelf elevation ( J:121243 )

• palatal shelves remain in a vertical growth orientation and fail to elevate

growth/size/body

abnormal palatal shelf morphology ( J:121243 )

• anterior palatal shelves of some double null mutants show subtle size and shape differences relative to wild-type palates at E13.5 and 14.5

cleft palate ( J:121243 )

• neonates show cleft palate

failure of palatal shelf elevation ( J:121243 )

• palatal shelves remain in a vertical growth orientation and fail to elevate

Genotype
MGI:7343897

cn93

• Allelic Composition: Bcor^tm1.1Vjba/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/J

craniofacial

complete cleft palate ( J:296645 )

♂ • all show severe clefting

♂ • complete cleft of both the hard and soft palates

endocrine/exocrine glands

abnormal major salivary gland morphology ( J:296645 )

♂ • supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth

♂ • ectopic glands contain mainly serous acini but also have groups of mucous acini

mortality/aging

neonatal lethality, complete penetrance ( J:296645 )

♂ • fail to thrive and die within a few hours of birth

digestive/alimentary system

complete cleft palate ( J:296645 )

♂ • all show severe clefting

♂ • complete cleft of both the hard and soft palates

abnormal major salivary gland morphology ( J:296645 )

♂ • supernumerary pair of major salivary glands embedded between the tongue and the floor of the mouth

♂ • ectopic glands contain mainly serous acini but also have groups of mucous acini

growth/size/body

complete cleft palate ( J:296645 )

♂ • all show severe clefting

♂ • complete cleft of both the hard and soft palates

Genotype
MGI:4417976

cn94

• Allelic Composition: Hand2^tm1Cse/Hand2⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J * CBA/J

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:155265 )

• no viable embryos are found at 15.5 dpc, with death prior to complete development of the cardiovascular system

• when pregnant mothers are treated with isoproterenol, approximately half of the mutant embryos survive to 15.5 dpc with about the same number surviving to birth

embryo

embryo phenotype ( J:155265 )

N • neural crest cell migration and smooth muscle differentiation are unaffected

cardiovascular system

pulmonary artery stenosis ( J:155265 )

• pulmonary stenosis is observed at 16.5 dpc (in 37.5% of mutants)

aberrant origin of the right subclavian artery ( J:155265 )

• embryos show abnormal origin of the right subclavian artery including retroesophageal right subclavian artery at 16.5 dpc (in 100% of mutants)

retroesophageal right subclavian artery ( J:155265 )

• observed at 16.5 dpc (in 87.5% of mutants)

interrupted aortic arch ( J:155265 )

• observed at 16.5 dpc (in 62.5% of mutants)

abnormal myocardial trabeculae morphology ( J:155265 )

• hypertrabeculation in the right ventricle is observed at 17.5 dpc due to decrease in number of cells exiting the cell cycle

heart right ventricle hypertrophy ( J:155265 )

• size of right ventricle is increased in embryos at 17.5 dpc

perimembraneous ventricular septal defect ( J:155265 )

• embyos display membranous ventricular defects at 16.5 dpc (in 100% of mutants)

abnormal fetal cardiomyocyte proliferation ( J:155265 )

• proliferation is increased 2-fold over controls in trabecular zone of the right ventricle at 13.5 and 15.5 dpc with no increase observed in the compact zone of the heart or the trabecular zone of the left ventricle

muscle

abnormal myocardial trabeculae morphology ( J:155265 )

• hypertrabeculation in the right ventricle is observed at 17.5 dpc due to decrease in number of cells exiting the cell cycle

heart right ventricle hypertrophy ( J:155265 )

• size of right ventricle is increased in embryos at 17.5 dpc

abnormal fetal cardiomyocyte proliferation ( J:155265 )

• proliferation is increased 2-fold over controls in trabecular zone of the right ventricle at 13.5 and 15.5 dpc with no increase observed in the compact zone of the heart or the trabecular zone of the left ventricle

cellular

abnormal fetal cardiomyocyte proliferation ( J:155265 )

• proliferation is increased 2-fold over controls in trabecular zone of the right ventricle at 13.5 and 15.5 dpc with no increase observed in the compact zone of the heart or the trabecular zone of the left ventricle

abnormal cell cycle ( J:155265 )

• doubling in proportion of cycling cardiomyocytes is detected in trabecular zone of right ventricle

hematopoietic system

abnormal thymus development ( J:155265 )

• the thymus is located lateral to the aortic arch arteries in a more rostral position compared to the normal location on the ventral side of the outflow tract close to the heart

immune system

abnormal thymus development ( J:155265 )

• the thymus is located lateral to the aortic arch arteries in a more rostral position compared to the normal location on the ventral side of the outflow tract close to the heart

endocrine/exocrine glands

abnormal thymus development ( J:155265 )

• the thymus is located lateral to the aortic arch arteries in a more rostral position compared to the normal location on the ventral side of the outflow tract close to the heart

growth/size/body

heart right ventricle hypertrophy ( J:155265 )

• size of right ventricle is increased in embryos at 17.5 dpc

Genotype
MGI:3804452

cn95

• Allelic Composition: Hand2^tm1.1Majh/Hand2^tm1.1Majh; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S1/SvImJ * C57BL/6J * CBA/J * DBA/2

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:137726 )

• embryos die around E12

• treatment of dams with a mixture of catecholamine intermediates allows mice to survive to birth

nervous system

nervous system phenotype ( J:137726 )

N • despite loss of Hand2 expression in neural crest cells, neural crest migration is normal

abnormal neuron differentiation ( J:137726 )

• significant reduction in the proliferation of neuronal precursor cells and neuroblasts by E12

abnormal enteric nervous system morphology ( J:138032 )

• patterning defects in the stomach suggest decrease in fiber density and relative disorganization of the plexus

abnormal enteric ganglia morphology ( J:138032 )

• abnormal patterning of ganglia and decrease in ganglia depth in the stomach at E14

• at E16 decrease in fiber and ganglia density at the oral end of the stomach

• density increases from the oral to the anal end but remains lower than in stomachs of control embryos

abnormal enteric neuron morphology ( J:138032 )

• marked increase in cell size and decrease in cell density in the stomach at E14

• at E16 decrease in fiber and ganglia density at the oral end of the stomach

• density increases from the oral to the anal end but remains lower than in stomachs of control embryos

abnormal sympathetic ganglion morphology ( J:137726 )

• at E12 there is a reduction in the number of cells expressing either a pan-neuronal marker (Hu) and catecholaminergic marker (TH) as well as a decrease in the proportion of cells expressing both markers

• the proportion of neurons and expression of TH continues to decrease with age

• at P0 only a few scattered cells remain that express TH and the sympathetic chain is absent

cardiovascular system

abnormal heart development ( J:137726 )

• in catecholamine rescued embryos at E14

craniofacial

abnormal craniofacial bone morphology ( J:137726 )

• in catecholamine rescued embryos at E14

short mandible ( J:137726 )

• in catecholamine rescued embryos at E14

embryo

decreased embryo size ( J:137726 )

• in catecholamine rescued embryos at E14

skeleton

abnormal craniofacial bone morphology ( J:137726 )

• in catecholamine rescued embryos at E14

short mandible ( J:137726 )

• in catecholamine rescued embryos at E14

growth/size/body

decreased embryo size ( J:137726 )

• in catecholamine rescued embryos at E14

cellular

abnormal neuron differentiation ( J:137726 )

• significant reduction in the proliferation of neuronal precursor cells and neuroblasts by E12

Genotype
MGI:5432553

cn96

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm1Glm; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * CBA

cardiovascular system

abnormal cardiac outflow tract development ( J:185683 )

• thinning of neural crest-derived mesenchyme in the distal outflow tract (dOFT) of E12.5 embryos, affecting the formation of the base of the aortic valve

Genotype
MGI:5698653

cn97

• Allelic Composition: Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

vision/eye

eyelids open at birth ( J:213338 )

• newborn mice display open eyelids

growth/size/body

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

• however, the number of apoptotic cells is not significantly increased at E12.5

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

abnormal upper lip morphology ( J:213338 )

• a mild size reduction of the upper lip is first seen at E13.5

eclabion ( J:213338 )

• an up-turned lip is first seen at E13.5

upturned snout ( J:213338 )

• an up-turned nose is first seen at E13.5

lowered ear position ( J:213338 )

• newborn mice have low-set ears

embryo

decreased cranial neural crest cell proliferation ( J:213338 )

• proliferation of neural crest cells is reduced as early as E10.5; however, these cells continue to expand and are capable of differentiating into cartilage and bone, esp. in the distal region of the maxilla and mandible, respectively

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

• however, the number of apoptotic cells is not significantly increased at E12.5

craniofacial

abnormal cranium morphology ( J:213338 )

• all neural crest cell-derived skull components are severely affected

abnormal jaw morphology ( J:213338 )

• all neural crest cell-derived jaw components are severely affected

small mandible ( J:213338 )

• a mild size reduction of the lower jaw is first seen at E13.5

mandible hypoplasia ( J:213338 )

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 73% of that in wild-type controls

maxilla hypoplasia ( J:213338 )

• at E13.5

abnormal craniofacial development ( J:213338 )

• newborn mice exhibit severe defects in craniofacial development

• surprisingly, no gross abnormalities are noted up to E12.5

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

• however, the number of apoptotic cells is not significantly increased at E12.5

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

abnormal upper lip morphology ( J:213338 )

• a mild size reduction of the upper lip is first seen at E13.5

eclabion ( J:213338 )

• an up-turned lip is first seen at E13.5

upturned snout ( J:213338 )

• an up-turned nose is first seen at E13.5

lowered ear position ( J:213338 )

• newborn mice have low-set ears

skeleton

abnormal cranium morphology ( J:213338 )

• all neural crest cell-derived skull components are severely affected

abnormal jaw morphology ( J:213338 )

• all neural crest cell-derived jaw components are severely affected

small mandible ( J:213338 )

• a mild size reduction of the lower jaw is first seen at E13.5

mandible hypoplasia ( J:213338 )

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 73% of that in wild-type controls

maxilla hypoplasia ( J:213338 )

• at E13.5

cellular

decreased cranial neural crest cell proliferation ( J:213338 )

• proliferation of neural crest cells is reduced as early as E10.5; however, these cells continue to expand and are capable of differentiating into cartilage and bone, esp. in the distal region of the maxilla and mandible, respectively

hearing/vestibular/ear

lowered ear position ( J:213338 )

• newborn mice have low-set ears

Genotype
MGI:5698674

cn98

• Allelic Composition: Mau2^tm1.1Hpt/Mau2^tm1.1Hpt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

vision/eye

eyelids open at birth ( J:213338 )

• newborn mice display open eyelids

growth/size/body

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

abnormal upper lip morphology ( J:213338 )

• a mild size reduction of the upper lip is first seen at E13.5

upturned snout ( J:213338 )

• an up-turned nose is first seen at E13.5

lowered ear position ( J:213338 )

• newborn mice have low-set ears

embryo

decreased cranial neural crest cell proliferation ( J:213338 )

• proliferation of neural crest cells is reduced as early as E10.5; however, these cells continue to expand and are capable of differentiating into cartilage and bone, esp. in the distal region of the maxilla and mandible, respectively

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

craniofacial

abnormal cranium morphology ( J:213338 )

• all neural crest cell-derived skull components are severely affected

abnormal jaw morphology ( J:213338 )

• all neural crest cell-derived jaw components are severely affected

small mandible ( J:213338 )

• a mild size reduction of the lower jaw is first seen at E13.5

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is only 49% of that in wild-type controls, i.e. significantly smaller than that of mice that are double homozygous for both Nipbl^tm1.1Hpt and Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)

abnormal craniofacial development ( J:213338 )

• surprisingly, newborn mice exhibit a more pronounced craniofacial phenotype relative to not only mice that are singly homozygous for Nipbl^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth, but also to mice that are double homozygous for both Nipbl^tm1.1Hpt and Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth

abnormal pharyngeal arch mesenchyme morphology ( J:213338 )

• at E10.5, the number of proliferating cells in the first branchial arch mesenchyme is reduced by ~25%

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

abnormal upper lip morphology ( J:213338 )

• a mild size reduction of the upper lip is first seen at E13.5

upturned snout ( J:213338 )

• an up-turned nose is first seen at E13.5

lowered ear position ( J:213338 )

• newborn mice have low-set ears

skeleton

abnormal cranium morphology ( J:213338 )

• all neural crest cell-derived skull components are severely affected

abnormal jaw morphology ( J:213338 )

• all neural crest cell-derived jaw components are severely affected

small mandible ( J:213338 )

• a mild size reduction of the lower jaw is first seen at E13.5

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is only 49% of that in wild-type controls, i.e. significantly smaller than that of mice that are double homozygous for both Nipbl^tm1.1Hpt and Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)

cellular

decreased cranial neural crest cell proliferation ( J:213338 )

• proliferation of neural crest cells is reduced as early as E10.5; however, these cells continue to expand and are capable of differentiating into cartilage and bone, esp. in the distal region of the maxilla and mandible, respectively

hearing/vestibular/ear

lowered ear position ( J:213338 )

• newborn mice have low-set ears

Genotype
MGI:5698685

cn99

• Allelic Composition: Mau2^tm1.1Hpt/Mau2^tm1.1Hpt; Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

vision/eye

eyelids open at birth ( J:213338 )

• newborn mice display open eyelids

growth/size/body

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

lowered ear position ( J:213338 )

• newborn mice have low-set ears

craniofacial

abnormal cranium morphology ( J:213338 )

• all neural crest cell-derived skull components are severely affected

abnormal jaw morphology ( J:213338 )

• all neural crest cell-derived jaw components are severely affected

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 68% of that in wild-type controls i.e. significantly larger than that of mice that are singly homozygous for Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls)

abnormal craniofacial development ( J:213338 )

• surprisingly, newborn mice exhibit a less pronounced craniofacial phenotype relative to mice that are singly homozygous for Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth

face hypoplasia ( J:213338 )

• newborn mice exhibit severe facial hypoplasia

lowered ear position ( J:213338 )

• newborn mice have low-set ears

skeleton

abnormal cranium morphology ( J:213338 )

• all neural crest cell-derived skull components are severely affected

abnormal jaw morphology ( J:213338 )

• all neural crest cell-derived jaw components are severely affected

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 68% of that in wild-type controls i.e. significantly larger than that of mice that are singly homozygous for Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls)

hearing/vestibular/ear

lowered ear position ( J:213338 )

• newborn mice have low-set ears

Genotype
MGI:5698689

cn100

• Allelic Composition: Mau2^tm1.1Hpt/Mau2^tm1.1Hpt; Nipbl^tm1.1Hpt/Nipbl⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL

craniofacial

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 62% of that in wild-type controls, i.e. intermediate between that of mice that are singly homozygous for Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls) and mice that are double homozygous for both Nipbl^tm1.1Hpt and Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)

skeleton

short mandible ( J:213338 )

• in newborn mice, the length of the mandible is 62% of that in wild-type controls, i.e. intermediate between that of mice that are singly homozygous for Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (49% of wild-type controls) and mice that are double homozygous for both Nipbl^tm1.1Hpt and Mau2^tm1.1Hpt and hemizygous for Tg(Wnt1-cre)11Rth (68% of wild-type controls)

Genotype
MGI:3584263

cn101

• Allelic Composition: Bdnf^tm1Krj/Bdnf^tm1Lfr; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

behavior/neurological

limb grasping ( J:99291 )

• at 1 month of age 78% of mutants clutch compared to 8% of wild-type mice and by 6 months all mutants clutch compared to 16% of wild-type

impaired coordination ( J:99291 )

• at 4 - 5 weeks of age performance on the rotarod test is impaired

nervous system

abnormal substantia nigra morphology ( J:99291 )

• tyrosine hydroxylase-positive neurons are reduced by about 27% and 23% at postnatal day 0 and 120, respectively and appear disorganized

abnormal substantia nigra pars compacta morphology ( J:99291 )

• the extent of the substantia nigra pars compacta appears reduced in coronal sections but the density of calbindin-positive neurons appears increased

Genotype
MGI:3723641

cn102

• Allelic Composition: Pax9^tm1.1Hpt/Pax9^tm1.1Hpt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:125026 )

• mice die at birth

craniofacial

absent alveolar process ( J:125026 )

arrest of tooth development ( J:125026 )

• tooth development is arrested at the bud stage

absent teeth ( J:125026 )

absent mandibular coronoid process ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

absent premaxilla ( J:125026 )

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

failure of palatal shelf elevation ( J:125026 )

behavior/neurological

aphagia ( J:125026 )

• mice die with no evidence of feeding

digestive/alimentary system

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

failure of palatal shelf elevation ( J:125026 )

skeleton

absent alveolar process ( J:125026 )

arrest of tooth development ( J:125026 )

• tooth development is arrested at the bud stage

absent teeth ( J:125026 )

absent mandibular coronoid process ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

absent premaxilla ( J:125026 )

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

growth/size/body

absent alveolar process ( J:125026 )

arrest of tooth development ( J:125026 )

• tooth development is arrested at the bud stage

absent teeth ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

failure of palatal shelf elevation ( J:125026 )

Genotype
MGI:4438209

cn103

• Allelic Composition: Phox2a^tm2.1Jbr/Phox2a^tm2.1Jbr; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA/J

nervous system

nervous system phenotype ( J:157532 )

N • all parasympathetic ganglia are formed

Genotype
MGI:4438210

cn104

• Allelic Composition: Phox2b^tm3.1Jbr/Phox2b^tm3.1Jbr; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA/J

nervous system

abnormal parasympathetic ganglion morphology ( J:157532 )

• absence of all head parasympathetic ganglia

Genotype
MGI:5301302

cn105

• Allelic Composition: Ngfr^tm1.1Vk/Ngfr^tm1.1Vk; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J * CBA/J * FVB/N

nervous system

abnormal sciatic nerve morphology ( J:178666 )

• sciatic nerves exhibit reduced diameter with fewer small diameter axon bundles and a lower number of small diameter unmyelinated and lightly-myelinated axons compared with wild-type mice

behavior/neurological

limb grasping ( J:178666 )

cardiovascular system

cardiovascular system phenotype ( J:178666 )

N • mice exhibit normal vasodilatation

growth/size/body

growth/size/body region phenotype ( J:178666 )

N • mice exhibit normal growth

Genotype
MGI:7539727

cn106

• Allelic Composition: Mirc35^tm1.1Pern/Mirc35^tm1.1Pern; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6N * CBA/J

behavior/neurological

decreased mechanical nociceptive threshold ( J:243640 )

Genotype
MGI:5491198

cn107

• Allelic Composition: Hoxa2^tm1.1Fmr/Hoxa2^tm1.1Fmr; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

lethality throughout fetal growth and development ( J:197162 )

nervous system

abnormal cochlear VIII nucleus morphology ( J:197162 )

Genotype
MGI:4839958

cn108

• Allelic Composition: Gt(ROSA)26Sor^{tm7(SMO*/YFP)Amc}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA * Swiss Webster

nervous system

abnormal brain development ( J:165962 )

• display severe dorsal CNS overgrowth

craniofacial

abnormal frontonasal prominence morphology ( J:165962 )

• display dysmorphology of the frontonasal processes

Genotype
MGI:6241489

cn109

• Allelic Composition: Rest^tm1.1Yasu/Rest⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * CBA/J

mortality/aging

mortality/aging ( J:230341 )

N • mice are viable and survive to adulthood

pigmentation

belly spot ( J:230341 )

• ~60% of mice exhibit a white belly spot of variable size ranging from a few white hairs to a white spot that is ~1 cm in diameter; in contrast, only ~15% of control mice carrying the transgene alone form an extremely small, striated white-haired area on the belly

integument

belly spot ( J:230341 )

• ~60% of mice exhibit a white belly spot of variable size ranging from a few white hairs to a white spot that is ~1 cm in diameter; in contrast, only ~15% of control mice carrying the transgene alone form an extremely small, striated white-haired area on the belly

nervous system

nervous system phenotype ( J:230341 )

N • at E16.5, E18.5 and P0, no significant differences are observed in the number or distribution pattern of melanoblasts in the epidermis of vibrissae, back or abdominal skin relative to control mice

Genotype
MGI:6241488

cn110

• Allelic Composition: Rest^tm1.1Yasu/Rest^tm1.1Yasu; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:230341 )

• mice die within 48 hrs of birth

nervous system

nervous system phenotype ( J:230341 )

N • at E16.5, E18.5 and P0, no significant differences are observed in the number or distribution pattern of melanoblasts in the epidermis of vibrissae, back or abdominal skin relative to control mice

Genotype
MGI:6241534

cn111

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Rest^tm1.1Yasu/Rest^tm1.1Yasu; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * CBA/J

embryo

abnormal melanoblast morphology ( J:230341 )

• at E14.5, the number of LacZ+ neural crest cell-derived cells in the skin is lower in both the head and belly regions than that in NCC-specific heterozygous knockout littermates carrying only one Rest^tm1.1Yasu allele

nervous system

abnormal melanoblast morphology ( J:230341 )

• at E14.5, the number of LacZ+ neural crest cell-derived cells in the skin is lower in both the head and belly regions than that in NCC-specific heterozygous knockout littermates carrying only one Rest^tm1.1Yasu allele

Genotype
MGI:6241535

cn112

• Allelic Composition: Rest^tm1.1Yasu/Rest^tm1.1Yasu; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Dct-lacZ)A12Jkn/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

embryo

abnormal melanoblast morphology ( J:230341 )

• at E12.5 and E14.5, the number of Dct-LacZ+ cells in the belly region is significantly lower than that in control mice

• at E17.5, the distribution pattern of LacZ+ cells is altered in skin from the abdomen, but not from the back or head

nervous system

abnormal melanoblast morphology ( J:230341 )

• at E12.5 and E14.5, the number of Dct-LacZ+ cells in the belly region is significantly lower than that in control mice

• at E17.5, the distribution pattern of LacZ+ cells is altered in skin from the abdomen, but not from the back or head

Genotype
MGI:3699953

cn113

• Allelic Composition: Flna^tm1.1Caw/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:118252 )

♂ • males survive until birth but die on first postnatal day

cardiovascular system

abnormal blood vessel morphology ( J:118252 )

♂ • blood vessels in brain are dilated

interrupted aortic arch ( J:118252 )

♂ • males show abnormal outflow tracts including interrupted aortic arch, but less severe than Flna^tm1.1Caw mutant males

abnormal vascular endothelial cell morphology ( J:118252 )

♂ • some adherens junctions (AJs) are unidentifiable, with excessive membrane ruffles at sites where AJs normally form

abnormal cardiac outflow tract development ( J:118252 )

♂ • endothelial cells are poorly organized with clusters or multiple layers and gaps in outflow tract

persistent truncus arteriosus ( J:118252 )

♂ • males show abnormal outflow tracts including PTA, but less severe than Flna^tm1.1Caw mutant males

abnormal atrioventricular cushion morphology ( J:118252 )

♂ • endothelial cells are poorly organized with clusters or multiple layers and gaps in endocardial cushion

abnormal vascular endothelial cell physiology ( J:118252 )

♂

homeostasis/metabolism

cyanosis ( J:118252 )

♂ • males are cyanotic at birth, indicating hypoxemia

nervous system

abnormal brain size ( J:118252 )

♂ • at E14.5, surviving mutants have smaller but grossly normal brains, with thinner cortical plate

behavior/neurological

behavior/neurological phenotype ( J:118252 )

♂N • no heterotopic neurons or migratory arrest are seen in mutant brains

Genotype
MGI:6241536

cn114

• Allelic Composition: Rest^tm1.1Yasu/Rest⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Dct-lacZ)A12Jkn/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

embryo

abnormal melanoblast morphology ( J:230341 )

• adult mice show a marked reduction in the number of Dct-LacZ+ melanoblasts and/or melanocytes in the white spot of abdominal skin

nervous system

abnormal melanoblast morphology ( J:230341 )

• adult mice show a marked reduction in the number of Dct-LacZ+ melanoblasts and/or melanocytes in the white spot of abdominal skin

Genotype
MGI:5485200

cn115

• Allelic Composition: Col1a1^{tm1(tetO-EWSR1/ATF1)Yasu}/Col1a1⁺; Gt(ROSA)26Sor^{tm1(rtTA*M2)Jae}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(CAG-cat,-lacZ)11Miya/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA/J * DBA/2

neoplasm

increased sarcoma incidence ( J:194505 )

• in of all doxycycline-treated mice arising from neural crest-lineage cells

Genotype
MGI:5558941

cn116

• Allelic Composition: Bmpr2^tm1.1Enl/Bmpr2^tm1.2Enl; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * CBA/J

nervous system

nervous system phenotype ( J:206541 )

N • mice exhibit normal maxillary and mandibular branches of the trigeminal nerve

abnormal ophthalmic nerve morphology ( J:206541 )

• stunted and prematurely branched at E11.5

Genotype
MGI:7338976

cn117

• Allelic Composition: Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:323190 )

craniofacial

maxillary shelf hypoplasia ( J:323190 )

palatine bone horizontal plate hypoplasia ( J:323190 )

abnormal palate development ( J:323190 )

• defects in palate development are detected by E14.5

abnormal palatal mesenchymal cell differentiation ( J:323190 )

• impaired osteogenic differentiation of palatal mesenchymal cells

abnormal palatal mesenchymal cell proliferation ( J:323190 )

• hyperproliferation of cranial neural crest-derived palatal mesenchymal cells

palatal shelf hypoplasia ( J:323190 )

• palatal shelves elevate but fail to extend towards the midline

• maxilla and palatine bones, palatal stromal mesenchyme and soft palate muscles are all affected

abnormal soft palate morphology ( J:323190 )

• abnormal orientation of the pterygoid plate

abnormal soft palate muscle morphology ( J:323190 )

• muscle fiber orientation is disturbed

complete cleft palate ( J:323190 )

• complete cleft with 90% penetrance

• treatment with Nutlin-3, an MDM2 inhibitor, rescued cleft palate in 3 of 5 mice

flat head ( J:323190 )

• minor flattened skull

cellular

abnormal cell physiology ( J:323190 )

• palatal mesenchymal cells show increased signs of DNA damage potentially due to replication stress

muscle

abnormal soft palate muscle morphology ( J:323190 )

• muscle fiber orientation is disturbed

skeleton

maxillary shelf hypoplasia ( J:323190 )

palatine bone horizontal plate hypoplasia ( J:323190 )

digestive/alimentary system

maxillary shelf hypoplasia ( J:323190 )

palatine bone horizontal plate hypoplasia ( J:323190 )

abnormal palate development ( J:323190 )

• defects in palate development are detected by E14.5

abnormal palatal mesenchymal cell differentiation ( J:323190 )

• impaired osteogenic differentiation of palatal mesenchymal cells

abnormal palatal mesenchymal cell proliferation ( J:323190 )

• hyperproliferation of cranial neural crest-derived palatal mesenchymal cells

palatal shelf hypoplasia ( J:323190 )

• palatal shelves elevate but fail to extend towards the midline

• maxilla and palatine bones, palatal stromal mesenchyme and soft palate muscles are all affected

abnormal soft palate morphology ( J:323190 )

• abnormal orientation of the pterygoid plate

abnormal soft palate muscle morphology ( J:323190 )

• muscle fiber orientation is disturbed

complete cleft palate ( J:323190 )

• complete cleft with 90% penetrance

• treatment with Nutlin-3, an MDM2 inhibitor, rescued cleft palate in 3 of 5 mice

growth/size/body

maxillary shelf hypoplasia ( J:323190 )

palatine bone horizontal plate hypoplasia ( J:323190 )

abnormal palate development ( J:323190 )

• defects in palate development are detected by E14.5

abnormal palatal mesenchymal cell differentiation ( J:323190 )

• impaired osteogenic differentiation of palatal mesenchymal cells

abnormal palatal mesenchymal cell proliferation ( J:323190 )

• hyperproliferation of cranial neural crest-derived palatal mesenchymal cells

palatal shelf hypoplasia ( J:323190 )

• palatal shelves elevate but fail to extend towards the midline

• maxilla and palatine bones, palatal stromal mesenchyme and soft palate muscles are all affected

abnormal soft palate morphology ( J:323190 )

• abnormal orientation of the pterygoid plate

abnormal soft palate muscle morphology ( J:323190 )

• muscle fiber orientation is disturbed

complete cleft palate ( J:323190 )

• complete cleft with 90% penetrance

• treatment with Nutlin-3, an MDM2 inhibitor, rescued cleft palate in 3 of 5 mice

flat head ( J:323190 )

• minor flattened skull

Genotype
MGI:7339041

cn118

• Allelic Composition: Tfrc^tm3.1Nca/Tfrc^tm3.1Nca; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:316198 )

• all die within 24 hrs of birth

respiratory system

respiratory distress ( J:316198 )

• severe

behavior/neurological

abnormal suckling behavior ( J:316198 )

• unable to suckle

craniofacial

abnormal Meckel's cartilage morphology ( J:316198 )

• at P0 no mature Meckel's cartilages are seen at the proximal end junction to the malleus

small Meckel's cartilage ( J:316198 )

• at E14.5 Meckel's cartilages are smaller and he proximal arms are not articulated with the middle ear capsule and the distal tips are not fused

abnormal hyoid bone morphology ( J:316198 )

• deformed

abnormal mandible morphology ( J:316198 )

• excessively curved which widens the distance between bilateral mandibular bones

abnormal mandibular angle morphology ( J:316198 )

• secondary cartilage is nearly missing

small mandibular condyloid process ( J:316198 )

• severely blocked or delayed

small mandibular coronoid process ( J:316198 )

• severely blocked or delayed

short mandible ( J:316198 )

micrognathia ( J:316198 )

abnormal gonial bone morphology ( J:316198 )

• deformed

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

abnormal tongue morphology ( J:316198 )

• arched tongue

oral cleft ( J:316198 )

• incomplete oral closure

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

hearing/vestibular/ear

abnormal gonial bone morphology ( J:316198 )

• deformed

abnormal tympanic ring morphology ( J:316198 )

• deformed

digestive/alimentary system

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

abnormal tongue morphology ( J:316198 )

• arched tongue

growth/size/body

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

abnormal tongue morphology ( J:316198 )

• arched tongue

oral cleft ( J:316198 )

• incomplete oral closure

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

skeleton

abnormal Meckel's cartilage morphology ( J:316198 )

• at P0 no mature Meckel's cartilages are seen at the proximal end junction to the malleus

small Meckel's cartilage ( J:316198 )

• at E14.5 Meckel's cartilages are smaller and he proximal arms are not articulated with the middle ear capsule and the distal tips are not fused

abnormal hyoid bone morphology ( J:316198 )

• deformed

abnormal mandible morphology ( J:316198 )

• excessively curved which widens the distance between bilateral mandibular bones

abnormal mandibular angle morphology ( J:316198 )

• secondary cartilage is nearly missing

small mandibular condyloid process ( J:316198 )

• severely blocked or delayed

small mandibular coronoid process ( J:316198 )

• severely blocked or delayed

short mandible ( J:316198 )

micrognathia ( J:316198 )

abnormal gonial bone morphology ( J:316198 )

• deformed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weissenbacher-Zweymuller syndrome		DOID:4258	OMIM:261800	J:316198

Genotype
MGI:5315491

cn119

• Allelic Composition: Ror1^tm1.1Meg/Ror1^tm1.1Meg; Ror2^tm1.1Meg/Ror2^tm1.1Meg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * CBA/J

Ror1^tm1.1Meg/Ror1^tm1.1Meg Ror2^tm1.1Meg/Ror2^tm1.1Meg H2az2^{Tg(Wnt1-cre)11Rth}/0 embryos exhibit sympathetic axon branching defects

nervous system

abnormal sympathetic neuron innervation pattern ( J:182150 )

• sympathetic innervation defects are seen in several target organs at E17.5

• defects are similar to those in Wnt5a null mice

• however, sympathetic chain ganglia appear grossly intact

Genotype
MGI:5427701

cn120

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Msx2^tm1Rilm/Msx2^tm1Rilm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * CBA/J

vision/eye

fused cornea and lens ( J:184697 )

• persistent adherence of the lens vesicle to the corneal ectoderm hinders the migration of neural crest cells across the stromal space between the surface ectoderm and endothelium

Genotype
MGI:6209743

cn121

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Mef2c^tm1Eno/Mef2c^tm1Jjs; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J

embryo

embryo phenotype ( J:122483 )

N • X-Gal staining of E9.5 embryos showed no obvious defects in neural crest contribution to the branchial arches or craniofacial mesenchyme relative to control embryos

Genotype
MGI:3720325

cn122

• Allelic Composition: Myc^tm2Fwa/Myc^tm2Fwa; Gt(ROSA)26Sor^tm1Sor/?; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * CBA

craniofacial

abnormal coronal suture morphology ( J:121871 )

• the coronal suture adjacent to the frontal bone has a curvilinear appearance and fails to fuse at the midline

abnormal frontal bone morphology ( J:121871 )

• at 6 weeks, the frontal bone is defective and mostly composed of a cartilaginous membrane

short nasal bone ( J:121871 )

abnormal malleus morphology ( J:121871 )

• at 6 weeks, malleal defects are observed

• however, the incus and stapes are morphologically normal

small malleus manubrium ( J:121871 )

• at 6 weeks, the manubrium is smaller than normal

small malleus ( J:121871 )

• at 6 weeks, the body of the malleus is smaller than normal

hearing/vestibular/ear

abnormal malleus morphology ( J:121871 )

• at 6 weeks, malleal defects are observed

• however, the incus and stapes are morphologically normal

small malleus manubrium ( J:121871 )

• at 6 weeks, the manubrium is smaller than normal

small malleus ( J:121871 )

• at 6 weeks, the body of the malleus is smaller than normal

skeleton

abnormal coronal suture morphology ( J:121871 )

• the coronal suture adjacent to the frontal bone has a curvilinear appearance and fails to fuse at the midline

abnormal frontal bone morphology ( J:121871 )

• at 6 weeks, the frontal bone is defective and mostly composed of a cartilaginous membrane

short nasal bone ( J:121871 )

abnormal malleus morphology ( J:121871 )

• at 6 weeks, malleal defects are observed

• however, the incus and stapes are morphologically normal

small malleus manubrium ( J:121871 )

• at 6 weeks, the manubrium is smaller than normal

small malleus ( J:121871 )

• at 6 weeks, the body of the malleus is smaller than normal

growth/size/body

short nasal bone ( J:121871 )

respiratory system

short nasal bone ( J:121871 )

Genotype
MGI:5430383

cn123

• Allelic Composition: Ugdh^tm1.1Xzh/Ugdh^tm1.1Xzh; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:185652 )

• die at birth

endocrine/exocrine glands

abnormal lacrimal gland development ( J:185652 )

• disruption of lacrimal gland budding

absent lacrimal glands ( J:185652 )

• at E14.5 and at birth

embryo

abnormal embryonic tissue physiology ( J:185652 )

• disruption of glycosaminoglycan biosynthesis in the periocular mesenchyme

digestive/alimentary system

cleft palate ( J:185652 )

craniofacial

cleft palate ( J:185652 )

vision/eye

abnormal lacrimal gland development ( J:185652 )

• disruption of lacrimal gland budding

absent lacrimal glands ( J:185652 )

• at E14.5 and at birth

growth/size/body

cleft palate ( J:185652 )

Genotype
MGI:5430385

cn124

• Allelic Composition: Kras^tm4Tyj/Kras^tm4Tyj; Ugdh^tm1.1Xzh/Ugdh^tm1.1Xzh; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * CBA/J

endocrine/exocrine glands

abnormal lacrimal gland development ( J:185652 )

• disruption of lacrimal gland budding

absent lacrimal glands ( J:185652 )

vision/eye

abnormal lacrimal gland development ( J:185652 )

• disruption of lacrimal gland budding

absent lacrimal glands ( J:185652 )

Genotype
MGI:5430384

cn125

• Allelic Composition: Ugdh^tm1.1Xzh/Ugdh^tm1.1Xzh; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Pax6-HRAS*G12V)2044Ove/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * CBA/J * FVB/N

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:185652 )

N • robust lacrimal gland budding is seen unlike in mutant mice lacking Tg(Pax6-HRAS*G12V)2044Ove

Genotype
MGI:5302859

cn126

• Allelic Composition: Pomt2^tm1.1Hhu/Pomt2^tm1.1Hhu; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J * CBA/J

nervous system

nervous system phenotype ( J:179356 )

N • mice exhibit normal meninges of the neocortex, pial basement membrane, and hippocampus

Genotype
MGI:5470170

cn127

• Allelic Composition: Zic3^tm2.1Jwb/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6J * CBA/J

normal phenotype

no abnormal phenotype detected ( J:192577 )

♂ • mice are indistinguishable from control mice with normal survival and heart development

Genotype
MGI:4843924

cn128

• Allelic Composition: Smo^tm2Amc/Smo^tm2.1Amc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J

embryo

decreased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells reaching the outflow tract is moderately reduced compared to in wild-type mice

impaired cardiac neural crest cell differentiation ( J:135134 )

• mice exhibit abnormal patterning of cardiac neural crest cells compared to in wild-type mice

cardiovascular system

decreased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells reaching the outflow tract is moderately reduced compared to in wild-type mice

impaired cardiac neural crest cell differentiation ( J:135134 )

• mice exhibit abnormal patterning of cardiac neural crest cells compared to in wild-type mice

nervous system

decreased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells reaching the outflow tract is moderately reduced compared to in wild-type mice

impaired cardiac neural crest cell differentiation ( J:135134 )

• mice exhibit abnormal patterning of cardiac neural crest cells compared to in wild-type mice

cellular

impaired cardiac neural crest cell differentiation ( J:135134 )

• mice exhibit abnormal patterning of cardiac neural crest cells compared to in wild-type mice

Genotype
MGI:6342276

cn129

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Pgap2^clpex/Pgap2^clpex
• Genetic Background: involves: 129S4/SvJaeSor * A/J * C57BL/6J * CBA/J

craniofacial

abnormal lateral nasal prominence morphology ( J:277316 )

abnormal medial nasal prominence morphology ( J:277316 )

Genotype
MGI:3719104

cn130

• Allelic Composition: Efnb1^tm1Sor/Efnb1⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * CBA

craniofacial

cleft palate ( J:89008 )

♀ • in 15% of mice

failure of palatal shelf elevation ( J:89008 )

♀ • at E14.5, palatal shelves fail to elevate

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:89008 )

♀ • bilaterally defective

digestive/alimentary system

cleft palate ( J:89008 )

♀ • in 15% of mice

failure of palatal shelf elevation ( J:89008 )

♀ • at E14.5, palatal shelves fail to elevate

growth/size/body

cleft palate ( J:89008 )

♀ • in 15% of mice

failure of palatal shelf elevation ( J:89008 )

♀ • at E14.5, palatal shelves fail to elevate

Genotype
MGI:5312871

cn131

• Allelic Composition: Bmp2^tm1Jfm/Bmp2⁺; Bmp4^tm1Jfm/Bmp4^tm1Jfm; Bmp7^tm1Jfm/Bmp7⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

small alisphenoid bone ( J:181229 )

small temporal bone squamous part ( J:181229 )

• decreased size

small nasal bone ( J:181229 )

small zygomatic bone ( J:181229 )

cleft palate ( J:181229 )

hearing/vestibular/ear

decreased tympanic ring size ( J:181229 )

digestive/alimentary system

cleft palate ( J:181229 )

skeleton

small alisphenoid bone ( J:181229 )

small temporal bone squamous part ( J:181229 )

• decreased size

small nasal bone ( J:181229 )

small zygomatic bone ( J:181229 )

growth/size/body

small nasal bone ( J:181229 )

cleft palate ( J:181229 )

respiratory system

small nasal bone ( J:181229 )

Genotype
MGI:7367239

cn132

• Allelic Composition: Bmp2^tm1Jfm/Bmp2^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

mortality/aging

perinatal lethality, complete penetrance ( J:274818 )

• mice die at birth as a result of a severe cleft palate defect

craniofacial

craniofacial phenotype ( J:274818 )

N • neural crest-derived cell migration, cell proliferation and apoptosis of palatal mesenchyme is unaffected

abnormal craniofacial morphology ( J:274818 )

• newborns exhibit multiple craniofacial malformations typical of Pierre Robin sequence in humans

abnormal craniofacial bone morphology ( J:274818 )

• severe defects with a significantly reduced size of craniofacial bones, including a ~40% reduction in zygomatic volume

small Meckel's cartilage ( J:274818 )

• Meckels cartilage is significantly smaller in size

abnormal sphenoid bone morphology ( J:274818 )

abnormal presphenoid bone morphology ( J:274818 )

abnormal temporal bone zygomatic process morphology ( J:274818 )

• smaller zygomatic process of squamous bone

abnormal jaw morphology ( J:274818 )

• maxillomandibular hypoplasia

absent mandibular coronoid process ( J:274818 )

• coronoid process of the mandibular bone is missing

small mandible ( J:274818 )

• smaller and shorter jaw

• further analysis showed significant reduction in cell proliferation and differentiation of osteogenic progenitors in the mandible, contributing to micrognathia

mandible hypoplasia ( J:274818 )

short mandible ( J:274818 )

• ~10% reduction in mandibular bone length

abnormal maxillary shelf morphology ( J:274818 )

abnormal maxillary zygomatic process morphology ( J:274818 )

• smaller zygomatic process of the maxilla

maxilla hypoplasia ( J:274818 )

micrognathia ( J:274818 )

absent zygomatic bone ( J:274818 )

failure of palatal shelf elevation ( J:274818 )

• failed elevation of palatal shelves at E14.5

• palate shelves remain in the vertical position at E16.5

• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5

• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue

complete cleft palate ( J:274818 )

• newborns exhibit complete cleft palate due to failed palatal shelf elevation

abnormal tongue position ( J:274818 )

• at E14.5, tongue position is significantly higher along the anterior-posterior axis

• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning

abnormal head shape ( J:274818 )

skeleton

abnormal craniofacial bone morphology ( J:274818 )

• severe defects with a significantly reduced size of craniofacial bones, including a ~40% reduction in zygomatic volume

small Meckel's cartilage ( J:274818 )

• Meckels cartilage is significantly smaller in size

abnormal sphenoid bone morphology ( J:274818 )

abnormal presphenoid bone morphology ( J:274818 )

abnormal temporal bone zygomatic process morphology ( J:274818 )

• smaller zygomatic process of squamous bone

abnormal jaw morphology ( J:274818 )

• maxillomandibular hypoplasia

absent mandibular coronoid process ( J:274818 )

• coronoid process of the mandibular bone is missing

small mandible ( J:274818 )

• smaller and shorter jaw

• further analysis showed significant reduction in cell proliferation and differentiation of osteogenic progenitors in the mandible, contributing to micrognathia

mandible hypoplasia ( J:274818 )

short mandible ( J:274818 )

• ~10% reduction in mandibular bone length

abnormal maxillary shelf morphology ( J:274818 )

abnormal maxillary zygomatic process morphology ( J:274818 )

• smaller zygomatic process of the maxilla

maxilla hypoplasia ( J:274818 )

micrognathia ( J:274818 )

absent zygomatic bone ( J:274818 )

digestive/alimentary system

abnormal maxillary shelf morphology ( J:274818 )

failure of palatal shelf elevation ( J:274818 )

• failed elevation of palatal shelves at E14.5

• palate shelves remain in the vertical position at E16.5

• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5

• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue

complete cleft palate ( J:274818 )

• newborns exhibit complete cleft palate due to failed palatal shelf elevation

abnormal tongue position ( J:274818 )

• at E14.5, tongue position is significantly higher along the anterior-posterior axis

• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning

growth/size/body

abnormal maxillary shelf morphology ( J:274818 )

failure of palatal shelf elevation ( J:274818 )

• failed elevation of palatal shelves at E14.5

• palate shelves remain in the vertical position at E16.5

• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5

• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue

complete cleft palate ( J:274818 )

• newborns exhibit complete cleft palate due to failed palatal shelf elevation

abnormal tongue position ( J:274818 )

• at E14.5, tongue position is significantly higher along the anterior-posterior axis

• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning

abnormal head shape ( J:274818 )

Genotype
MGI:5312870

cn133

• Allelic Composition: Bmp2^tm1Jfm/Bmp2^tm1Jfm; Bmp4^tm1Jfm/Bmp4⁺; Bmp7^tm1Jfm/Bmp7⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

absent alisphenoid bone ( J:181229 )

absent mandibular coronoid process ( J:181229 )

small nasal bone ( J:181229 )

absent zygomatic bone ( J:181229 )

cleft palate ( J:181229 )

digestive/alimentary system

cleft palate ( J:181229 )

skeleton

absent alisphenoid bone ( J:181229 )

absent mandibular coronoid process ( J:181229 )

small nasal bone ( J:181229 )

absent zygomatic bone ( J:181229 )

growth/size/body

small nasal bone ( J:181229 )

cleft palate ( J:181229 )

respiratory system

small nasal bone ( J:181229 )

Genotype
MGI:5312869

cn134

• Allelic Composition: Bmp2^tm1Jfm/Bmp2⁺; Bmp4^tm1Jfm/Bmp4⁺; Bmp7^tm1Jfm/Bmp7^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

absent alisphenoid bone ( J:181229 )

small temporal bone squamous part ( J:181229 )

• decreased size

cleft palate ( J:181229 )

hearing/vestibular/ear

decreased tympanic ring size ( J:181229 )

digestive/alimentary system

cleft palate ( J:181229 )

skeleton

absent alisphenoid bone ( J:181229 )

small temporal bone squamous part ( J:181229 )

• decreased size

growth/size/body

cleft palate ( J:181229 )

Genotype
MGI:5312868

cn135

• Allelic Composition: Bmp2^tm1Jfm/Bmp2^tm1Jfm; Bmp4^tm1Jfm/Bmp4^tm1Jfm; Bmp7^tm1Jfm/Bmp7^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

abnormal craniofacial bone morphology ( J:181229 )

• drastic reduction in most cranial neural crest derived bones

large anterior fontanelle ( J:181229 )

• enlarged frontal fontanelle at E18.5

• phenotype is more severe than in conditional null mice wild-type for Bmp2

abnormal interparietal bone morphology ( J:181229 )

• pieces of the interparietal bone are absent

absent alisphenoid bone ( J:181229 )

absent temporal bone squamous part ( J:181229 )

abnormal mandible morphology ( J:181229 )

• mandibular defects at E18.5

• phenotype is more severe than in conditional null mice wild-type for Bmp2

absent mandibular angle ( J:181229 )

absent mandibular condyloid process ( J:181229 )

absent mandibular coronoid process ( J:181229 )

absent maxilla ( J:181229 )

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

absent zygomatic bone ( J:181229 )

cleft palate ( J:181229 )

hearing/vestibular/ear

absent tympanic ring ( J:181229 )

skeleton

abnormal craniofacial bone morphology ( J:181229 )

• drastic reduction in most cranial neural crest derived bones

large anterior fontanelle ( J:181229 )

• enlarged frontal fontanelle at E18.5

• phenotype is more severe than in conditional null mice wild-type for Bmp2

abnormal interparietal bone morphology ( J:181229 )

• pieces of the interparietal bone are absent

absent alisphenoid bone ( J:181229 )

absent temporal bone squamous part ( J:181229 )

abnormal mandible morphology ( J:181229 )

• mandibular defects at E18.5

• phenotype is more severe than in conditional null mice wild-type for Bmp2

absent mandibular angle ( J:181229 )

absent mandibular condyloid process ( J:181229 )

absent mandibular coronoid process ( J:181229 )

absent maxilla ( J:181229 )

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

absent zygomatic bone ( J:181229 )

digestive/alimentary system

cleft palate ( J:181229 )

growth/size/body

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

cleft palate ( J:181229 )

respiratory system

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

Genotype
MGI:5312867

cn136

• Allelic Composition: Bmp4^tm1Jfm/Bmp4^tm1Jfm; Bmp7^tm1Jfm/Bmp7^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

large anterior fontanelle ( J:181229 )

• enlarged frontal fontanelle at E18.5

small temporal bone squamous part ( J:181229 )

• decreased size

abnormal mandible morphology ( J:181229 )

• subtle mandibular defects at E18.5

cleft palate ( J:181229 )

hearing/vestibular/ear

decreased tympanic ring size ( J:181229 )

digestive/alimentary system

cleft palate ( J:181229 )

skeleton

large anterior fontanelle ( J:181229 )

• enlarged frontal fontanelle at E18.5

small temporal bone squamous part ( J:181229 )

• decreased size

abnormal mandible morphology ( J:181229 )

• subtle mandibular defects at E18.5

growth/size/body

cleft palate ( J:181229 )

Genotype
MGI:4441314

cn137

• Allelic Composition: Adam22^tm1.1Mejr/Adam22^tm1.1Mejr; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

nervous system

abnormal neuron morphology ( J:158973 )

• mice exhibit promyelin arrested fibers unlike wild-type mice

abnormal myelination ( J:158973 )

• mice exhibit promyelin arrested fibers unlike wild-type mice

Genotype
MGI:4441318

cn138

• Allelic Composition: Lgi4^tm1.1Jrb/Lgi4^tm1.1Jrb; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

nervous system

demyelination ( J:158973 )

• in the sciatic nerve at P12 similar to Lgi4^clp homozygotes

Genotype
MGI:5312866

cn139

• Allelic Composition: Bmp2^tm1Jfm/Bmp2⁺; Bmp4^tm1Jfm/Bmp4^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

small interparietal bone ( J:181229 )

skeleton

small interparietal bone ( J:181229 )

Genotype
MGI:5784731

cn140

• Allelic Composition: Arid1a^tm1.1Mag/Arid1a^tm1.1Mag; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

cardiovascular system

abnormal cardiac outflow tract development ( J:231470 )

• shortened outflow tracts

abnormal conotruncus septation ( J:231470 )

• cardiac outflow tracts of E11.5 embryos show no evidence of conotruncal septation

cellular

abnormal neural crest cell migration ( J:231470 )

• fewer neural crest cells are seen in post-otic and circumpharyngeal streams of E10.5 embryos

abnormal cardiac neural crest cell migration ( J:231470 )

• the depth of cardiac outflow tract penetration by neural crest cells is reduced and elongation of the outflow tract apparatus is truncated in E10.5 embryos, resulting in shortened outflow tracts

embryo

abnormal neural crest cell migration ( J:231470 )

• fewer neural crest cells are seen in post-otic and circumpharyngeal streams of E10.5 embryos

abnormal cardiac neural crest cell migration ( J:231470 )

• the depth of cardiac outflow tract penetration by neural crest cells is reduced and elongation of the outflow tract apparatus is truncated in E10.5 embryos, resulting in shortened outflow tracts

Genotype
MGI:5312864

cn141

• Allelic Composition: Bmp2^tm1Jfm/Bmp2^tm1Jfm; Bmp4^tm1Jfm/Bmp4^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

abnormal craniofacial bone morphology ( J:181229 )

• drastic reduction in most cranial neural crest derived bones

large anterior fontanelle ( J:181229 )

• enlarged frontal fontanelle at E18.5

• phenotype is more severe than in conditional null mice wild-type for Bmp2

abnormal interparietal bone morphology ( J:181229 )

• pieces of the interparietal bone are absent

absent alisphenoid bone ( J:181229 )

abnormal temporal bone squamous part morphology ( J:181229 )

• pieces of the squamosal bone are absent

abnormal mandible morphology ( J:181229 )

• mandibular defects at E18.5

• phenotype is more severe than in conditional null mice wild-type for Bmp2

abnormal mandibular angle morphology ( J:181229 )

• decreased size

abnormal mandibular condyloid process morphology ( J:181229 )

• pieces of the condyloid process are absent

absent mandibular coronoid process ( J:181229 )

absent maxilla ( J:181229 )

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

absent zygomatic bone ( J:181229 )

cleft palate ( J:181229 )

hearing/vestibular/ear

absent tympanic ring ( J:181229 )

skeleton

abnormal craniofacial bone morphology ( J:181229 )

• drastic reduction in most cranial neural crest derived bones

large anterior fontanelle ( J:181229 )

• enlarged frontal fontanelle at E18.5

• phenotype is more severe than in conditional null mice wild-type for Bmp2

abnormal interparietal bone morphology ( J:181229 )

• pieces of the interparietal bone are absent

absent alisphenoid bone ( J:181229 )

abnormal temporal bone squamous part morphology ( J:181229 )

• pieces of the squamosal bone are absent

abnormal mandible morphology ( J:181229 )

• mandibular defects at E18.5

• phenotype is more severe than in conditional null mice wild-type for Bmp2

abnormal mandibular angle morphology ( J:181229 )

• decreased size

abnormal mandibular condyloid process morphology ( J:181229 )

• pieces of the condyloid process are absent

absent mandibular coronoid process ( J:181229 )

absent maxilla ( J:181229 )

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

absent zygomatic bone ( J:181229 )

digestive/alimentary system

cleft palate ( J:181229 )

growth/size/body

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

cleft palate ( J:181229 )

respiratory system

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

Genotype
MGI:5312874

cn142

• Allelic Composition: Bmp2^tm1Jfm/Bmp2⁺; Bmp4^tm1Jfm/Bmp4^tm1Jfm; Bmp7^tm1Jfm/Bmp7^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

small interparietal bone ( J:181229 )

small temporal bone squamous part ( J:181229 )

• decreased size

small nasal bone ( J:181229 )

small zygomatic bone ( J:181229 )

cleft palate ( J:181229 )

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:181229 )

• missing pieces

digestive/alimentary system

cleft palate ( J:181229 )

skeleton

small interparietal bone ( J:181229 )

small temporal bone squamous part ( J:181229 )

• decreased size

small nasal bone ( J:181229 )

small zygomatic bone ( J:181229 )

growth/size/body

small nasal bone ( J:181229 )

cleft palate ( J:181229 )

respiratory system

small nasal bone ( J:181229 )

Genotype
MGI:5312873

cn143

• Allelic Composition: Bmp2^tm1Jfm/Bmp2^tm1Jfm; Bmp4^tm1Jfm/Bmp4⁺; Bmp7^tm1Jfm/Bmp7^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

absent alisphenoid bone ( J:181229 )

abnormal temporal bone squamous part morphology ( J:181229 )

• missing pieces

absent mandibular coronoid process ( J:181229 )

small nasal bone ( J:181229 )

absent zygomatic bone ( J:181229 )

cleft palate ( J:181229 )

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:181229 )

• missing pieces

digestive/alimentary system

cleft palate ( J:181229 )

skeleton

absent alisphenoid bone ( J:181229 )

abnormal temporal bone squamous part morphology ( J:181229 )

• missing pieces

absent mandibular coronoid process ( J:181229 )

small nasal bone ( J:181229 )

absent zygomatic bone ( J:181229 )

growth/size/body

small nasal bone ( J:181229 )

cleft palate ( J:181229 )

respiratory system

small nasal bone ( J:181229 )

Genotype
MGI:5312875

cn144

• Allelic Composition: Bmp2^tm1Jfm/Bmp2^tm1Jfm; Bmp4^tm1Jfm/Bmp4^tm1Jfm; Bmp7^tm1Jfm/Bmp7⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

abnormal interparietal bone morphology ( J:181229 )

• pieces of the interparietal bone are absent

absent alisphenoid bone ( J:181229 )

absent temporal bone squamous part ( J:181229 )

abnormal mandibular angle morphology ( J:181229 )

• decreased size

abnormal mandibular condyloid process morphology ( J:181229 )

• pieces of the condyloid process are absent

absent mandibular coronoid process ( J:181229 )

absent maxilla ( J:181229 )

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

absent zygomatic bone ( J:181229 )

cleft palate ( J:181229 )

hearing/vestibular/ear

absent tympanic ring ( J:181229 )

skeleton

abnormal interparietal bone morphology ( J:181229 )

• pieces of the interparietal bone are absent

absent alisphenoid bone ( J:181229 )

absent temporal bone squamous part ( J:181229 )

abnormal mandibular angle morphology ( J:181229 )

• decreased size

abnormal mandibular condyloid process morphology ( J:181229 )

• pieces of the condyloid process are absent

absent mandibular coronoid process ( J:181229 )

absent maxilla ( J:181229 )

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

absent zygomatic bone ( J:181229 )

digestive/alimentary system

cleft palate ( J:181229 )

growth/size/body

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

cleft palate ( J:181229 )

respiratory system

abnormal nasal bone morphology ( J:181229 )

• pieces of the nasal bone are absent

Genotype
MGI:5312863

cn145

• Allelic Composition: Bmp4^tm1Jfm/Bmp4^tm1Jfm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

skeleton

impaired osteoblast differentiation ( J:181229 )

• expression analysis indicates a defect in the transition from pre-osteoblast to osteoblast

large anterior fontanelle ( J:181229 )

• enlarged frontal fontanelle at E18.5

small interparietal bone ( J:181229 )

abnormal mandible morphology ( J:181229 )

• subtle mandibular defects at E18.5

cellular

impaired osteoblast differentiation ( J:181229 )

• expression analysis indicates a defect in the transition from pre-osteoblast to osteoblast

craniofacial

large anterior fontanelle ( J:181229 )

• enlarged frontal fontanelle at E18.5

small interparietal bone ( J:181229 )

abnormal mandible morphology ( J:181229 )

• subtle mandibular defects at E18.5

Genotype
MGI:5312865

cn146

• Allelic Composition: Bmp2^tm1Jfm/Bmp2^tm1Jfm; Bmp4^tm1Jfm/Bmp4⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J * CBA/J

craniofacial

absent alisphenoid bone ( J:181229 )

absent mandibular coronoid process ( J:181229 )

small nasal bone ( J:181229 )

absent zygomatic bone ( J:181229 )

cleft palate ( J:181229 )

digestive/alimentary system

cleft palate ( J:181229 )

skeleton

absent alisphenoid bone ( J:181229 )

absent mandibular coronoid process ( J:181229 )

small nasal bone ( J:181229 )

absent zygomatic bone ( J:181229 )

growth/size/body

small nasal bone ( J:181229 )

cleft palate ( J:181229 )

respiratory system

small nasal bone ( J:181229 )

Genotype
MGI:5605991

cn147

• Allelic Composition: Wnt5a^tm1Amc/Wnt5a^tm1.1Krvl; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:196291 )

• pups die within a few hours of birth

nervous system

increased neuron apoptosis ( J:196291 )

• increased neuron apoptosis observed in superior cervical ganglia

abnormal axon extension ( J:196291 )

• defects in extension and branching of sympathetic axons are observed in salivary glands, thymus, heart, spleen and bladder at E16.5

abnormal sympathetic neuron innervation pattern ( J:196291 )

• incomplete innervation in paravertebral sympathetic ganglia and prevertebral ganglia

• sympathetic axons in spleen extend to target, but fail to grow and arborize spleen parenchyma

craniofacial

abnormal craniofacial morphology ( J:196291 )

• pups exhibit craniofacial abnormalities

cellular

increased neuron apoptosis ( J:196291 )

• increased neuron apoptosis observed in superior cervical ganglia

abnormal axon extension ( J:196291 )

• defects in extension and branching of sympathetic axons are observed in salivary glands, thymus, heart, spleen and bladder at E16.5

Genotype
MGI:6209712

cn148

• Allelic Composition: Mef2c^tm1Eno/Mef2c^tm1Jjs; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:122483 )

• mice are born at normal ratios and are responsive to touch; however, all mice die from asphyxiation caused by upper airway obstruction within an hr of birth

• tracheostomy results in recovery from cyanosis and restoration of viability prior to humane euthanasia

homeostasis/metabolism

cyanosis ( J:122483 )

• mice become cyanotic soon after birth

respiratory system

abnormal respiratory system morphology ( J:122483 )

• at P0, the upper airway is constricted/obstructed, unlike in control mice

craniofacial

temporal bone hypoplasia ( J:122483 )

zygomatic arch hypoplasia ( J:122483 )

abnormal mandibular angle morphology ( J:122483 )

• at P0, the angular processes of the mandibles are severely hypoplastic

mandibular condyloid process hypoplasia ( J:122483 )

• at P0, the condular processes of the mandibles are severely hypoplastic

mandibular coronoid process hypoplasia ( J:122483 )

• at P0, the coronoid processes of the mandibles are severely hypoplastic

mandible hypoplasia ( J:122483 )

short mandible ( J:122483 )

• at P0, the mandible is markedly shorter

abnormal craniofacial development ( J:122483 )

• neonatal skulls display several defective or missing craniofacial structures

• defects in craniofacial development are observed as early as E13.5

• however, no obvious changes are observed in proliferation or apoptosis at E9.5 or E10.5

Meckel's cartilage hypoplasia ( J:122483 )

• at E16.5, embryos exhibit a hypoplastic Meckels cartilage; hypoplasia is already evident at E13.5, i.e. prior to the onset of ossification

abnormal pharyngeal arch morphology ( J:122483 )

• at E9.5, expression of Dlx5, Dlx6, and Hand2 is almost completely absent in the first and second branchial arches relative to control embryos

• however, Prx1 expression is normal, indicating that overall branchial arch development is not defective at E9.5

cleft palate ( J:122483 )

• all newborns exhibit a posterior cleft of the palate

glossoptosis ( J:122483 )

• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

skeleton

Meckel's cartilage hypoplasia ( J:122483 )

• at E16.5, embryos exhibit a hypoplastic Meckels cartilage; hypoplasia is already evident at E13.5, i.e. prior to the onset of ossification

temporal bone hypoplasia ( J:122483 )

zygomatic arch hypoplasia ( J:122483 )

abnormal mandibular angle morphology ( J:122483 )

• at P0, the angular processes of the mandibles are severely hypoplastic

mandibular condyloid process hypoplasia ( J:122483 )

• at P0, the condular processes of the mandibles are severely hypoplastic

mandibular coronoid process hypoplasia ( J:122483 )

• at P0, the coronoid processes of the mandibles are severely hypoplastic

mandible hypoplasia ( J:122483 )

short mandible ( J:122483 )

• at P0, the mandible is markedly shorter

delayed bone ossification ( J:122483 )

• at E16.5, embryos exhibit a hypoplastic Meckels cartilage and delayed ossification in the mandible and maxilla relative to control mice

growth/size/body

abnormal head morphology ( J:122483 )

• all newborns exhibit misshapen heads

cleft palate ( J:122483 )

• all newborns exhibit a posterior cleft of the palate

glossoptosis ( J:122483 )

• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

pigmentation

abnormal melanocyte differentiation ( J:173609 )

• embryos show reduced expression of the melanocyte markers Pmel17, Mitf and Dct in multiple regions during embryonic/fetal development

abnormal dermal melanocyte morphology ( J:173609 )

• newborn mice show a significant reduction in the number of DOPA-stained follicular and interfollicular melanocytes in the dermis relative to control mice

• few remaining dermal melanocytes have significantly fewer melanosomes than melanocytes in control mice

abnormal epidermal melanocyte morphology ( J:173609 )

• newborn mice exhibit significantly fewer DOPA-stained follicular melanocytes in the epidermis than control mice

decreased skin pigmentation ( J:173609 )

• mice exhibit significant loss of pigmentation at birth

decreased melanocyte number ( J:173609 )

• DOPA staining of neonatal skin tissue shows a significant reduction in the number of melanocytes in epidermis and dermis relative to control mice

• in neonatal epidermis, the number of DOPA-stained melanocytes is reduced by 87% relative to control mice

• at E12.5, embryos show only 69% as many Dct-labeled melanocytes in the interlimb region as control embryos

• however, no differences in TUNEL staining or in BrdU incorporation are noted from E11.5 to E18.5

abnormal melanosome morphology ( J:173609 )

• newborn mice exhibit a 65% reduction in the number of melanosomes in dermal melanocytes relative to control mice

integument

abnormal dermal melanocyte morphology ( J:173609 )

• newborn mice show a significant reduction in the number of DOPA-stained follicular and interfollicular melanocytes in the dermis relative to control mice

• few remaining dermal melanocytes have significantly fewer melanosomes than melanocytes in control mice

abnormal epidermal melanocyte morphology ( J:173609 )

• newborn mice exhibit significantly fewer DOPA-stained follicular melanocytes in the epidermis than control mice

decreased skin pigmentation ( J:173609 )

• mice exhibit significant loss of pigmentation at birth

hearing/vestibular/ear

absent tympanic ring ( J:122483 )

digestive/alimentary system

cleft palate ( J:122483 )

• all newborns exhibit a posterior cleft of the palate

glossoptosis ( J:122483 )

• all newborns exhibit defective positioning of the tongue near the back of the oral cavity, unlike control mice

cellular

abnormal melanocyte differentiation ( J:173609 )

• embryos show reduced expression of the melanocyte markers Pmel17, Mitf and Dct in multiple regions during embryonic/fetal development

embryo

abnormal pharyngeal arch morphology ( J:122483 )

• at E9.5, expression of Dlx5, Dlx6, and Hand2 is almost completely absent in the first and second branchial arches relative to control embryos

• however, Prx1 expression is normal, indicating that overall branchial arch development is not defective at E9.5

nervous system

nervous system phenotype ( J:173609 )

N • no obvious defects in peripheral or enteric innervation are detected at birth

Genotype
MGI:3720189

cn149

• Allelic Composition: Myc^tm2Fwa/Myc^tm2Fwa; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

growth/size/body

small nasal bone ( J:121871 )

short nasal bone ( J:121871 )

short snout ( J:121871 )

• mutant mice exhibit a persistently shorter snout

decreased body size ( J:121871 )

• mutant mice are viable but show a ~25% reduction in overall size relative to control littermates

decreased body weight ( J:121871 )

• mutant mice show a ~25% reduction in weight relative to control littermates

pigmentation

variable body spotting ( J:121871 )

• all mutants show coat pigmentation defects involving multiple white patches of various sizes that spare the head

• however, no other neural crest-related defects such as cleft palate, spina bifida or exencephaly are observed

craniofacial

small cranium ( J:121871 )

• mutant mice exhibit a noticeably smaller skull

abnormal frontal bone morphology ( J:121871 )

• frontal bones are defective, with absence of ossification near the metopic region

abnormal parietal bone morphology ( J:121871 )

• the relative size and position of parietal bones is abnormal

small nasal bone ( J:121871 )

short nasal bone ( J:121871 )

abnormal middle ear ossicle morphology ( J:121871 )

• mutant mice display predominantly malleal defects

• in contrast, the structure and size of incus and stapes appears normal

• in addition, normal hair cells are seen in the organ of Corti, utricle, and crista, and no absence of inner or outer hair cell stereocilia is observed

abnormal malleus morphology ( J:121871 )

• the body of malleus is abnormally shaped

• the angle between the manubrium and the body of the malleus is increased

short malleus manubrium ( J:121871 )

• the manubrium is shorter than normal

small malleus ( J:121871 )

• the body of malleus is smaller than normal

short snout ( J:121871 )

• mutant mice exhibit a persistently shorter snout

skeleton

small cranium ( J:121871 )

• mutant mice exhibit a noticeably smaller skull

abnormal frontal bone morphology ( J:121871 )

• frontal bones are defective, with absence of ossification near the metopic region

abnormal parietal bone morphology ( J:121871 )

• the relative size and position of parietal bones is abnormal

small nasal bone ( J:121871 )

short nasal bone ( J:121871 )

abnormal middle ear ossicle morphology ( J:121871 )

• mutant mice display predominantly malleal defects

• in contrast, the structure and size of incus and stapes appears normal

• in addition, normal hair cells are seen in the organ of Corti, utricle, and crista, and no absence of inner or outer hair cell stereocilia is observed

abnormal malleus morphology ( J:121871 )

• the body of malleus is abnormally shaped

• the angle between the manubrium and the body of the malleus is increased

short malleus manubrium ( J:121871 )

• the manubrium is shorter than normal

small malleus ( J:121871 )

• the body of malleus is smaller than normal

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:121871 )

• mutant mice display predominantly malleal defects

• in contrast, the structure and size of incus and stapes appears normal

• in addition, normal hair cells are seen in the organ of Corti, utricle, and crista, and no absence of inner or outer hair cell stereocilia is observed

abnormal malleus morphology ( J:121871 )

• the body of malleus is abnormally shaped

• the angle between the manubrium and the body of the malleus is increased

short malleus manubrium ( J:121871 )

• the manubrium is shorter than normal

small malleus ( J:121871 )

• the body of malleus is smaller than normal

abnormal auditory brainstem response ( J:121871 )

• mutant mice display delayed evoked response latencies

conductive hearing impairment ( J:121871 )

• mutant mice show a significant hearing deficit attributed to malleal defects

behavior/neurological

absent pinna reflex ( J:121871 )

• mutant mice do not appear startled in response to a loud noise e.g. clapping of hands

integument

variable body spotting ( J:121871 )

• all mutants show coat pigmentation defects involving multiple white patches of various sizes that spare the head

• however, no other neural crest-related defects such as cleft palate, spina bifida or exencephaly are observed

respiratory system

small nasal bone ( J:121871 )

short nasal bone ( J:121871 )

Genotype
MGI:3623395

cn150

• Allelic Composition: Tgfbr2^tm1.2Hlm/Tgfbr2^tm1.2Hlm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:104325 )

• lethality in the immediate postnatal period

cardiovascular system

abnormal dorsal aorta morphology ( J:104325 )

• the dorsal aorta is supplied soley via the ductus arteriosus

abnormal fourth pharyngeal arch artery morphology ( J:104325 )

• all exhibit inappropriate regression of the left 4th arch artery and 30% of the right arch artery

• inappropriate apoptosis in the 4th arch artery, however normal neural crest cell migration, smooth muscle differentiation and pharyngeal endodermal organ development

abnormal aortic arch morphology ( J:104325 )

retroesophageal right subclavian artery ( J:104325 )

• 5/17 have a right subclavian artery that originates retroesophageally from the dorsal aorta

interrupted aortic arch, type b ( J:104325 )

• E12.5 or older embryos have an interruption of the aortic arch between the left carotid artery and the left subclavian artery (IAA type B)

persistent truncus arteriosus ( J:104325 )

• all E12.5 or older embryos exhibit persistent truncus arteriosus, specifically subtype PTA-A4, resulting from a failure in the formation of the aorticopulmonary (A/P) septum

• the ascending aorta branches into the carotid arteries but does not connect to the dorsal aorta, and the dorsal aorta is supplied soley via the ductus arteriosus

ventricular septal defect ( J:104325 )

• ventricular septum defect

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:104325 )

• all exhibit inappropriate regression of the left 4th arch artery and 30% of the right arch artery

• inappropriate apoptosis in the 4th arch artery, however normal neural crest cell migration, smooth muscle differentiation and pharyngeal endodermal organ development

abnormal cranium morphology ( J:86042 )

• show severe skull defects at birth

small cranium ( J:86042 )

• skull is about 25% smaller than in wild-type

abnormal neurocranium morphology ( J:86042 )

• calvaria development is impaired

absent frontal bone ( J:86042 )

• missing at birth

abnormal parietal bone morphology ( J:86042 )

• induction of parietal bone development fails to occur at E16.5

• severely retarded parietal bone at birth

abnormal mandible morphology ( J:86042 )

absent mandibular angle ( J:86042 )

• at birth shows a missing mandibular angle

small mandibular condyloid process ( J:86042 )

• at birth shows a reduction in the condyle

small mandibular coronoid process ( J:86042 )

• at birth shows a reduction in the coronoid process

small mandible ( J:86042 )

• mandible is smaller at birth

small maxilla ( J:86042 )

• maxilla is smaller at birth

abnormal palate morphology ( J:86042 )

• complete failure of secondary palate fusion at E14.5

abnormal palatal mesenchymal cell proliferation ( J:86042 )

• significant reduction in the cell proliferation rate within the cranial neural crest-derived palatal mesenchyme

palatal shelves fail to meet at midline ( J:86042 )

• shelves do not meet at the midline and fuse, but E13.5 mutant shelves cultured in vitro are able to fuse when placed in proximity to each other, suggesting that failure of palatal mesenchymal cell proliferation and extension to the midline is the cause of cleft palate in mutant mice

palatal shelf hypoplasia ( J:86042 )

• decrease in cellular density in the elevated palatal shelf mesenchyme

abnormal soft palate muscle morphology ( J:208431 )

• muscle abnormalities in the soft palate

cleft secondary palate ( J:86042 )

• at birth, 100% of newborns have complete cleft secondary palate

nervous system

abnormal brain dura mater morphology ( J:86042 )

• dura mater development is severely impaired at E14.5, with embryos showing a single cell layer that is poorly developed

skeleton

abnormal cranium morphology ( J:86042 )

• show severe skull defects at birth

small cranium ( J:86042 )

• skull is about 25% smaller than in wild-type

abnormal neurocranium morphology ( J:86042 )

• calvaria development is impaired

absent frontal bone ( J:86042 )

• missing at birth

abnormal parietal bone morphology ( J:86042 )

• induction of parietal bone development fails to occur at E16.5

• severely retarded parietal bone at birth

abnormal mandible morphology ( J:86042 )

absent mandibular angle ( J:86042 )

• at birth shows a missing mandibular angle

small mandibular condyloid process ( J:86042 )

• at birth shows a reduction in the condyle

small mandibular coronoid process ( J:86042 )

• at birth shows a reduction in the coronoid process

small mandible ( J:86042 )

• mandible is smaller at birth

small maxilla ( J:86042 )

• maxilla is smaller at birth

embryo

abnormal fourth pharyngeal arch artery morphology ( J:104325 )

• all exhibit inappropriate regression of the left 4th arch artery and 30% of the right arch artery

• inappropriate apoptosis in the 4th arch artery, however normal neural crest cell migration, smooth muscle differentiation and pharyngeal endodermal organ development

decreased cranial neural crest cell proliferation ( J:86042 )

• cranial neural crest (CNC) cell proliferation activity is severely impaired at E14.5, however no defect in CNC migration

digestive/alimentary system

abnormal palate morphology ( J:86042 )

• complete failure of secondary palate fusion at E14.5

abnormal palatal mesenchymal cell proliferation ( J:86042 )

• significant reduction in the cell proliferation rate within the cranial neural crest-derived palatal mesenchyme

palatal shelves fail to meet at midline ( J:86042 )

• shelves do not meet at the midline and fuse, but E13.5 mutant shelves cultured in vitro are able to fuse when placed in proximity to each other, suggesting that failure of palatal mesenchymal cell proliferation and extension to the midline is the cause of cleft palate in mutant mice

palatal shelf hypoplasia ( J:86042 )

• decrease in cellular density in the elevated palatal shelf mesenchyme

abnormal soft palate muscle morphology ( J:208431 )

• muscle abnormalities in the soft palate

cleft secondary palate ( J:86042 )

• at birth, 100% of newborns have complete cleft secondary palate

cellular

decreased cranial neural crest cell proliferation ( J:86042 )

• cranial neural crest (CNC) cell proliferation activity is severely impaired at E14.5, however no defect in CNC migration

muscle

abnormal soft palate muscle morphology ( J:208431 )

• muscle abnormalities in the soft palate

growth/size/body

abnormal palate morphology ( J:86042 )

• complete failure of secondary palate fusion at E14.5

abnormal palatal mesenchymal cell proliferation ( J:86042 )

• significant reduction in the cell proliferation rate within the cranial neural crest-derived palatal mesenchyme

palatal shelves fail to meet at midline ( J:86042 )

• shelves do not meet at the midline and fuse, but E13.5 mutant shelves cultured in vitro are able to fuse when placed in proximity to each other, suggesting that failure of palatal mesenchymal cell proliferation and extension to the midline is the cause of cleft palate in mutant mice

palatal shelf hypoplasia ( J:86042 )

• decrease in cellular density in the elevated palatal shelf mesenchyme

abnormal soft palate muscle morphology ( J:208431 )

• muscle abnormalities in the soft palate

cleft secondary palate ( J:86042 )

• at birth, 100% of newborns have complete cleft secondary palate

Genotype
MGI:3806465

cn151

• Allelic Composition: Foxd3^tm2Lby/Foxd3^tm3Lby; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:134482 )

• live embryos were found in the expected ratios at all times in development but no mutant mice survived more than a few hours

craniofacial

abnormal cranium morphology ( J:134482 )

• cranial defects are observed at midgestation stages

small basioccipital bone ( J:134482 )

• the basioccipital bone is present but smaller in size

absent frontal bone ( J:134482 )

• the frontal bone is missing

small interparietal bone ( J:134482 )

• the interparietal bone is greatly reduced in size

small parietal bone ( J:134482 )

• the parietal bone is greatly reduced in size

mandibular hyperostosis ( J:134482 )

• the mandible is thickened

short mandible ( J:134482 )

• the mandible is shortened

short premaxilla ( J:134482 )

short maxilla ( J:134482 )

absent nasal capsule ( J:134482 )

• the nasal capsule is missing

small pharyngeal arch ( J:134482 )

• reduced in size and striking decrease of neural crest cells

cleft palate ( J:134482 )

• all mutant mice had a severe cleft face and palate incompatible with survival

midline facial cleft ( J:134482 )

• the facial midline never fused

digestive/alimentary system

cleft palate ( J:134482 )

• all mutant mice had a severe cleft face and palate incompatible with survival

respiratory system

absent nasal capsule ( J:134482 )

• the nasal capsule is missing

respiratory failure ( J:134482 )

• due to severe cleft face and palate, mutant mice were unable to breathe after birth

vision/eye

eyelids open at birth ( J:134482 )

• the eyelids were partially open at birth

skeleton

abnormal cranium morphology ( J:134482 )

• cranial defects are observed at midgestation stages

small basioccipital bone ( J:134482 )

• the basioccipital bone is present but smaller in size

absent frontal bone ( J:134482 )

• the frontal bone is missing

small interparietal bone ( J:134482 )

• the interparietal bone is greatly reduced in size

small parietal bone ( J:134482 )

• the parietal bone is greatly reduced in size

mandibular hyperostosis ( J:134482 )

• the mandible is thickened

short mandible ( J:134482 )

• the mandible is shortened

short premaxilla ( J:134482 )

short maxilla ( J:134482 )

absent nasal capsule ( J:134482 )

• the nasal capsule is missing

embryo

abnormal cardiac neural crest cell migration ( J:134482 )

• fewer neural crest cells entering the heart field

abnormal enteric neural crest cell migration ( J:134482 )

• no mutant neural crest cells entered the developing gut

small pharyngeal arch ( J:134482 )

• reduced in size and striking decrease of neural crest cells

nervous system

increased hindbrain apoptosis ( J:134482 )

abnormal enteric nervous system morphology ( J:134482 )

• the neurons and glia in enteric nerves system derived from neural crest cell are absent

small dorsal root ganglion ( J:134482 )

abnormal spinal nerve morphology ( J:134482 )

• spinal nerves along the trunk of the mutant embryos were thinner

abnormal dorsal spinal root morphology ( J:134482 )

• spinal nerves exiting the dorsal root ganglia are absent

cardiovascular system

abnormal common carotid artery morphology ( J:134482 )

• a duplication of the left common carotid artery

persistent truncus arteriosus ( J:134482 )

abnormal heart development ( J:134482 )

• fewer neural crest cells entering the heart field

cellular

increased apoptosis ( J:134482 )

• increased apoptotic cells in the dorsal spinal cord, in the hindbrain, and in the posterior tail

increased hindbrain apoptosis ( J:134482 )

abnormal cardiac neural crest cell migration ( J:134482 )

• fewer neural crest cells entering the heart field

abnormal enteric neural crest cell migration ( J:134482 )

• no mutant neural crest cells entered the developing gut

growth/size/body

absent nasal capsule ( J:134482 )

• the nasal capsule is missing

cleft palate ( J:134482 )

• all mutant mice had a severe cleft face and palate incompatible with survival

midline facial cleft ( J:134482 )

• the facial midline never fused

Genotype
MGI:3720194

cn152

• Allelic Composition: Myc^tm2Fwa/Myc⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

pigmentation

belly spot ( J:121871 )

• mutant mice display a clearly demarcated white belly spot

integument

belly spot ( J:121871 )

• mutant mice display a clearly demarcated white belly spot

Genotype
MGI:3586444

cn153

• Allelic Composition: Zfpm1^tm4Sho/Zfpm1^tm4Sho; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

cardiovascular system

cardiovascular system phenotype ( J:99745 )

N • viable and do not display double outlet right ventricle or other cardiac defects at E14.5

Genotype
MGI:3840256

cn154

• Allelic Composition: Ptpn11^tm6Bgn/Ptpn11⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA/J

cardiovascular system

cardiovascular system phenotype ( J:147154 )

N • no cardiac defects are seen

craniofacial

decreased cranium height ( J:147154 )

vision/eye

increased inner canthal distance ( J:147154 )

• increased inner canthal distance

skeleton

decreased cranium height ( J:147154 )

Genotype
MGI:6267036

cn155

• Allelic Composition: Ywhae^tm2.1Awb/Ywhae⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

pigmentation

pigmentation phenotype ( J:242528 )

N • at P21, mice do not show white patches of fur on the ventral region of their torso or any other region

Genotype
MGI:6267030

cn156

• Allelic Composition: Ywhae^tm2.1Awb/Ywhae⁺; Ywhaz^{Gt(OST432062)Lex}/Ywhaz⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

pigmentation

belly spot ( J:242528 )

• at P21, 88.5 % of mice show white patches of fur on the ventral region of their torso; the area of white patches is 0.69 cm²

• however, no white patches were observed on the tail and paws or any other region

integument

belly spot ( J:242528 )

• at P21, 88.5 % of mice show white patches of fur on the ventral region of their torso; the area of white patches is 0.69 cm²

• however, no white patches were observed on the tail and paws or any other region

Genotype
MGI:6267034

cn157

• Allelic Composition: Ywhae^tm2.1Awb/Ywhae^tm2.1Awb; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

pigmentation

belly spot ( J:242528 )

• at P21, 80.0% of mice show white patches of fur on the ventral region of their torso; the area of white patches is 0.23 cm²

• however, no white patches were observed on the tail and paws or any other region

integument

belly spot ( J:242528 )

• at P21, 80.0% of mice show white patches of fur on the ventral region of their torso; the area of white patches is 0.23 cm²

• however, no white patches were observed on the tail and paws or any other region

Genotype
MGI:6267035

cn158

• Allelic Composition: Ywhae^tm2.1Awb/Ywhae^tm2.1Awb; Ywhaz^{Gt(OST432062)Lex}/Ywhaz⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

pigmentation

belly spot ( J:242528 )

• at P21, 100% of mice show white patches of fur on the ventral region of their torso; the area of white patches is 0.97 cm²

• however, no white patches were observed on the tail and paws or any other region

integument

belly spot ( J:242528 )

• at P21, 100% of mice show white patches of fur on the ventral region of their torso; the area of white patches is 0.97 cm²

• however, no white patches were observed on the tail and paws or any other region

Genotype
MGI:6267027

cn159

• Allelic Composition: Ywhae^tm2.1Awb/Ywhae⁺; Ywhaz^{Gt(OST432062)Lex}/Ywhaz^{Gt(OST432062)Lex}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

mortality/aging

decreased survivor rate ( J:242528 )

• although mice are able to survive to adulthood, their survival rate is lower than expected

premature death ( J:242528 )

growth/size/body

decreased body weight ( J:242528 )

• at P21, mice show significantly decreased body weight relative to control mice

pigmentation

belly spot ( J:242528 )

• at P21, 80.0% of mice show white patches of fur on the ventral region of their torso; the area of white patches is 1.09 cm²

• however, no white patches were observed on the tail and paws or any other region

integument

belly spot ( J:242528 )

• at P21, 80.0% of mice show white patches of fur on the ventral region of their torso; the area of white patches is 1.09 cm²

• however, no white patches were observed on the tail and paws or any other region

craniofacial

craniofacial phenotype ( J:242528 )

N • at P21, mice exhibit no obvious defects in the craniofacial region

Genotype
MGI:6267026

cn160

• Allelic Composition: Ywhae^tm2.1Awb/Ywhae^tm2.1Awb; Ywhaz^{Gt(OST432062)Lex}/Ywhaz^{Gt(OST432062)Lex}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

mortality/aging

embryonic lethality, complete penetrance ( J:242528 )

• mice are embryonic lethal

Genotype
MGI:6509439

cn161

• Allelic Composition: Bmp7^tm1.1Dgra/Bmp7^tm1.1Dgra; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac * CBA/J

mortality/aging

premature death ( J:302309 )

• starting at around 3 weeks of age, mice show a failure to thrive with variable onset that leads to death, with only 30% of mice surviving past 8 weeks of age

behavior/neurological

impaired exercise endurance ( J:302309 )

• mice show decreased exercise capacity at P30, with mice tiring very quickly in an acute speed test and spending more time on the resting plate

craniofacial

abnormal basicranium angle ( J:302309 )

• mice exhibit a more acutely angled cranial base at 4 weeks of age but not at P14 or P21

short basicranium ( J:302309 )

• mice present with a shorter, more acute-angled cranial base

abnormal neurocranium morphology ( J:302309 )

• lengths of the posterior and anterior frontal complex are reduced

abnormal basisphenoid bone morphology ( J:302309 )

• 4-week old mice exhibit a shorter basispenoid which is not seen at P14 or P21

• however, lengths of basioccipital, presphenoid, and ethmoid bones are not changed

frontal bossing ( J:302309 )

• mice show increased frontal bossing and a change to frontal bossing angle at 1 month of age

abnormal nasal bone morphology ( J:302309 )

• mice show depressed nasal bones and changes to nasal depression angle at 1 month of age

short nasal bone ( J:302309 )

• length, but not width, of the nasal bones is reduced

abnormal turbinate morphology ( J:302309 )

• turbinate development appears disturbed, with reduced branching and ossification, and slight swelling of turbinate soft tissue bilaterally at P14; swelling and reduced turbinate branching are more noticeable at P30

abnormal face development ( J:302309 )

• difference in facial length becomes significant at P21 due to reduced facial growth between the 2- and 3-week time points

nasal obstruction ( J:302309 )

• nasal airway obstruction

deviated nasal septum ( J:302309 )

• all mice develop nasal septum deviation by P30, with variable extent, shape, direction and location and degree of deviation

abnormal snout morphology ( J:302309 )

• mice show a more acute-angled snout at 1 month of age

midface hypoplasia ( J:302309 )

• mice show a midfacial depression of varying degree from about 2 weeks of age and develop midfacial hypoplasia that becomes prominent around P21

growth/size/body

frontal bossing ( J:302309 )

• mice show increased frontal bossing and a change to frontal bossing angle at 1 month of age

abnormal nasal bone morphology ( J:302309 )

• mice show depressed nasal bones and changes to nasal depression angle at 1 month of age

short nasal bone ( J:302309 )

• length, but not width, of the nasal bones is reduced

abnormal turbinate morphology ( J:302309 )

• turbinate development appears disturbed, with reduced branching and ossification, and slight swelling of turbinate soft tissue bilaterally at P14; swelling and reduced turbinate branching are more noticeable at P30

abnormal face development ( J:302309 )

• difference in facial length becomes significant at P21 due to reduced facial growth between the 2- and 3-week time points

nasal obstruction ( J:302309 )

• nasal airway obstruction

deviated nasal septum ( J:302309 )

• all mice develop nasal septum deviation by P30, with variable extent, shape, direction and location and degree of deviation

abnormal snout morphology ( J:302309 )

• mice show a more acute-angled snout at 1 month of age

midface hypoplasia ( J:302309 )

• mice show a midfacial depression of varying degree from about 2 weeks of age and develop midfacial hypoplasia that becomes prominent around P21

homeostasis/metabolism

impaired exercise endurance ( J:302309 )

• mice show decreased exercise capacity at P30, with mice tiring very quickly in an acute speed test and spending more time on the resting plate

increased circulating hydroxyproline level ( J:302309 )

decreased body temperature ( J:302309 )

• mice with apneas show a lower overall baseline body temperature due to greater body temperature individual variability and lower body temperature during hypoxia

decreased oxygen consumption ( J:302309 )

• delta oxygen, the difference in oxygen fraction in the inflow and outflow of the chamber, indicating oxygen consumption, is reduced in mice

respiratory system

abnormal nasal bone morphology ( J:302309 )

• mice show depressed nasal bones and changes to nasal depression angle at 1 month of age

short nasal bone ( J:302309 )

• length, but not width, of the nasal bones is reduced

abnormal turbinate morphology ( J:302309 )

• turbinate development appears disturbed, with reduced branching and ossification, and slight swelling of turbinate soft tissue bilaterally at P14; swelling and reduced turbinate branching are more noticeable at P30

nasal obstruction ( J:302309 )

• nasal airway obstruction

deviated nasal septum ( J:302309 )

• all mice develop nasal septum deviation by P30, with variable extent, shape, direction and location and degree of deviation

abnormal respiration ( J:302309 )

• short respiratory disruptions following a sigh is reduced, whereas prolonged post-sigh events (more than or two apneas following a sigh) are increased

• majority of respiratory disturbances develop following the development of craniofacial abnormalities

decreased pulmonary respiratory rate ( J:302309 )

• mice with apneas exhibit a lower baseline respiratory frequency and an increase in cycle duration of each respiratory event due to an increase in the inspiratory time

apnea ( J:302309 )

• plethysmopgraphy shows that 50% of mice elicit a greater number of spontaneous apneas in normoxia

• presence of greater number of spontaneous apneas persists during hypoxia, as well as during the first minute of recovery to normoxia

• however, the presence of greater number of spontaneous apneas disappears during hyperoxia

skeleton

abnormal basicranium angle ( J:302309 )

• mice exhibit a more acutely angled cranial base at 4 weeks of age but not at P14 or P21

short basicranium ( J:302309 )

• mice present with a shorter, more acute-angled cranial base

abnormal neurocranium morphology ( J:302309 )

• lengths of the posterior and anterior frontal complex are reduced

abnormal basisphenoid bone morphology ( J:302309 )

• 4-week old mice exhibit a shorter basispenoid which is not seen at P14 or P21

• however, lengths of basioccipital, presphenoid, and ethmoid bones are not changed

frontal bossing ( J:302309 )

• mice show increased frontal bossing and a change to frontal bossing angle at 1 month of age

abnormal nasal bone morphology ( J:302309 )

• mice show depressed nasal bones and changes to nasal depression angle at 1 month of age

short nasal bone ( J:302309 )

• length, but not width, of the nasal bones is reduced

abnormal turbinate morphology ( J:302309 )

• turbinate development appears disturbed, with reduced branching and ossification, and slight swelling of turbinate soft tissue bilaterally at P14; swelling and reduced turbinate branching are more noticeable at P30

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
obstructive sleep apnea		DOID:0050848	OMIM:107650	J:302309

Genotype
MGI:7344038

cn162

• Allelic Composition: Men1^tm1.2Ctre/Men1^tm1.2Ctre; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

mortality/aging

perinatal lethality, complete penetrance ( J:127545 )

• all pups die by P1

behavior/neurological

absent gastric milk in neonates ( J:127545 )

craniofacial

abnormal basisphenoid bone morphology ( J:127545 )

abnormal pterygoid process morphology ( J:127545 )

abnormal palatal shelf bone ossification ( J:127545 )

• skeletal staining revealed the absence of ossified palatal shelves

palatal shelves fail to meet at midline ( J:127545 )

• newborns exhibit unfused palatal shelves

cleft secondary palate ( J:127545 )

• all newborns exhibit a bilateral cleft of the secondary palate

bilateral cleft palate ( J:127545 )

skeleton

skeleton phenotype ( J:127545 )

N • newborn pups do NOT exhibit rib or sternum defects

abnormal basisphenoid bone morphology ( J:127545 )

abnormal pterygoid process morphology ( J:127545 )

abnormal palatal shelf bone ossification ( J:127545 )

• skeletal staining revealed the absence of ossified palatal shelves

digestive/alimentary system

abnormal palatal shelf bone ossification ( J:127545 )

• skeletal staining revealed the absence of ossified palatal shelves

palatal shelves fail to meet at midline ( J:127545 )

• newborns exhibit unfused palatal shelves

cleft secondary palate ( J:127545 )

• all newborns exhibit a bilateral cleft of the secondary palate

bilateral cleft palate ( J:127545 )

growth/size/body

abnormal palatal shelf bone ossification ( J:127545 )

• skeletal staining revealed the absence of ossified palatal shelves

palatal shelves fail to meet at midline ( J:127545 )

• newborns exhibit unfused palatal shelves

cleft secondary palate ( J:127545 )

• all newborns exhibit a bilateral cleft of the secondary palate

bilateral cleft palate ( J:127545 )

Genotype
MGI:5702482

cn163

• Allelic Composition: Cbfb^tm2.1Ddg/Cbfb^tm2.1Ddg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

craniofacial

abnormal craniofacial development ( J:226826 )

mortality/aging

perinatal lethality ( J:226826 )

• mice die perinatally due to craniofacial defects

Genotype
MGI:6711690

cn164

• Allelic Composition: Stk11^tm1.1Rdp/Stk11^tm1.1Rdp; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

nervous system

abnormal axon extension ( J:305107 )

• dorsal root ganglia explants from E13.5 embryos exhibit reduced axonal growth in vitro compared with control samples

• however, sensory neurons exhibit normal polarization

abnormal axon morphology ( J:305107 )

• E13.5 limbs exhibit strongly reduced overall axonal coverage and total number of axonal branches compared with control limbs

• however, no increase in apoptosis is observed and mitochondria motility is normal

abnormal neuron physiology ( J:305107 )

• reduced axonal ATP levels

cellular

abnormal axon extension ( J:305107 )

• dorsal root ganglia explants from E13.5 embryos exhibit reduced axonal growth in vitro compared with control samples

• however, sensory neurons exhibit normal polarization

Genotype
MGI:7335064

cn165

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Meis2^tm1.1Zkoz/Meis2^tm1.1Zkoz
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

craniofacial

abnormal palate morphology ( J:286823 )

• palatal shelves are reduced in size in the posterior region where the soft palate forms

absent maxillary shelf ( J:286823 )

absent palatine bone horizontal plate ( J:286823 )

absent palate bones ( J:286823 )

• complete absence of palatal bones in all mice

abnormal palatal mesenchymal cell proliferation ( J:286823 )

• reduced proliferation of the posterior palatal mesenchyme but not of the anterior mesenchyme

abnormal palatal rugae morphology ( J:286823 )

• disorganized in mice with submucous cleft

cleft secondary palate ( J:286823 )

• complete cleft is seen in 81 of 170 mice with submucous cleft seen in the rest (89 of 170)

abnormal palatal shelf elevation ( J:286823 )

• in some mice the anterior palatal shelves are deformed and fail to elevate

cleft soft palate ( J:286823 )

submucous cleft palate ( J:286823 )

• failure of bone formation in the hard palate domain

abnormal tongue muscle morphology ( J:286823 )

• disorganized fibers

decreased tongue size ( J:286823 )

• smaller with disorganized muscle fibers

muscle

abnormal tongue muscle morphology ( J:286823 )

• disorganized fibers

skeleton

absent maxillary shelf ( J:286823 )

absent palatine bone horizontal plate ( J:286823 )

absent palate bones ( J:286823 )

• complete absence of palatal bones in all mice

abnormal intramembranous bone ossification ( J:286823 )

• in mice with submucous cleft palate, anterior shelves elevate and fuse but expression analysis indicates that osteogenesis fails to initiate

• however, osteogenesis does occur in the parts of the maxillary bone at either end of the nasal passage

digestive/alimentary system

abnormal palate morphology ( J:286823 )

• palatal shelves are reduced in size in the posterior region where the soft palate forms

absent maxillary shelf ( J:286823 )

absent palatine bone horizontal plate ( J:286823 )

absent palate bones ( J:286823 )

• complete absence of palatal bones in all mice

abnormal palatal mesenchymal cell proliferation ( J:286823 )

• reduced proliferation of the posterior palatal mesenchyme but not of the anterior mesenchyme

abnormal palatal rugae morphology ( J:286823 )

• disorganized in mice with submucous cleft

cleft secondary palate ( J:286823 )

• complete cleft is seen in 81 of 170 mice with submucous cleft seen in the rest (89 of 170)

abnormal palatal shelf elevation ( J:286823 )

• in some mice the anterior palatal shelves are deformed and fail to elevate

cleft soft palate ( J:286823 )

submucous cleft palate ( J:286823 )

• failure of bone formation in the hard palate domain

abnormal tongue muscle morphology ( J:286823 )

• disorganized fibers

decreased tongue size ( J:286823 )

• smaller with disorganized muscle fibers

growth/size/body

abnormal palate morphology ( J:286823 )

• palatal shelves are reduced in size in the posterior region where the soft palate forms

absent maxillary shelf ( J:286823 )

absent palatine bone horizontal plate ( J:286823 )

absent palate bones ( J:286823 )

• complete absence of palatal bones in all mice

abnormal palatal mesenchymal cell proliferation ( J:286823 )

• reduced proliferation of the posterior palatal mesenchyme but not of the anterior mesenchyme

abnormal palatal rugae morphology ( J:286823 )

• disorganized in mice with submucous cleft

cleft secondary palate ( J:286823 )

• complete cleft is seen in 81 of 170 mice with submucous cleft seen in the rest (89 of 170)

abnormal palatal shelf elevation ( J:286823 )

• in some mice the anterior palatal shelves are deformed and fail to elevate

cleft soft palate ( J:286823 )

submucous cleft palate ( J:286823 )

• failure of bone formation in the hard palate domain

abnormal tongue muscle morphology ( J:286823 )

• disorganized fibers

decreased tongue size ( J:286823 )

• smaller with disorganized muscle fibers

Genotype
MGI:7335081

cn166

• Allelic Composition: Gt(ROSA)26Sor^{tm3(CAG-Shox2)Fawa}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Meis2^tm1.1Zkoz/Meis2^tm1.1Zkoz
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:286823 )

craniofacial

absent palate bones ( J:286823 )

• complete absence of palatal bones in all mice

cleft secondary palate ( J:286823 )

• complete cleft is seen in 9 of 14

submucous cleft palate ( J:286823 )

• in 5 of 14

• manifests as fused anterior palate and cleft soft palate

skeleton

absent palate bones ( J:286823 )

• complete absence of palatal bones in all mice

digestive/alimentary system

absent palate bones ( J:286823 )

• complete absence of palatal bones in all mice

cleft secondary palate ( J:286823 )

• complete cleft is seen in 9 of 14

submucous cleft palate ( J:286823 )

• in 5 of 14

• manifests as fused anterior palate and cleft soft palate

growth/size/body

absent palate bones ( J:286823 )

• complete absence of palatal bones in all mice

cleft secondary palate ( J:286823 )

• complete cleft is seen in 9 of 14

submucous cleft palate ( J:286823 )

• in 5 of 14

• manifests as fused anterior palate and cleft soft palate

Genotype
MGI:5659953

cn167

• Allelic Composition: Srf^tm1Rmn/Srf^tm1Rmn; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

mortality/aging

embryonic lethality, complete penetrance ( J:144862 )

• mice die at late embryonic stages

craniofacial

craniofacial phenotype ( J:144862 )

N • tongue is present

mandible hypoplasia ( J:144862 )

cardiovascular system

persistent truncus arteriosus ( J:144862 )

ventricular septal defect ( J:144862 )

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:144862 )

N • external ear is present

immune system

athymia ( J:144862 )

skeleton

mandible hypoplasia ( J:144862 )

hematopoietic system

athymia ( J:144862 )

endocrine/exocrine glands

athymia ( J:144862 )

absent thyroid gland ( J:144862 )

Genotype
MGI:7367344

cn168

• Allelic Composition: Gnas^tm5.1Lsw/Gnas^tm5.1Lsw; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:254756 )

• mice are born at expected Mendelian ratios; however, all neonates die within hours after birth

homeostasis/metabolism

cyanosis ( J:254756 )

• newborns become progressively cyanotic

respiratory system

absent nasal capsule ( J:254756 )

• at P0, the nasal capsule is missing

abnormal nasal septum cartilage morphology ( J:254756 )

• at E17.5, the nasal septum cartilage is abnormally ossified and malformed

abnormal thyroid cartilage morphology ( J:254756 )

• thyroid cartilage is abnormally ossified at P0

respiratory distress ( J:254756 )

behavior/neurological

abnormal suckling behavior ( J:254756 )

• newborns are unable to suckle

craniofacial

abnormal craniofacial morphology ( J:254756 )

• at P0, all mice exhibit severe craniofacial malformations

• however, embryos are grossly normal at E10.5 and E12.5

abnormal craniofacial bone morphology ( J:254756 )

• newborns show severe craniofacial skeleton defects due to accelerated osteochondrogenic differentiation; the NCC-derived nasal capsule, maxilla, premaxilla, mandible, tympanic ring and body of hyoid bone are absent or severely malformed

• in contrast, mesoderm-derived skeleton elements including the parietal, lateral portion of the interparietal, supraoccipital, exoccipital, basioccipital and otic capsule are formed normally

abnormal hyoid bone morphology ( J:254756 )

• hyoid bone is heavily ossified at P0

abnormal hyoid bone body morphology ( J:254756 )

• newborns exhibit an over-ossified body of the hyoid bone

• premature ossification in the body of hyoid bone is first seen at E15.5

abnormal incisor morphology ( J:254756 )

• incisor tip is abnormally ossified at E14.5 and E15.5

abnormal mandible morphology ( J:254756 )

• newborns exhibit a hypoplastic and malformed mandible

• mandibular bone is heavily ossified at P0

absent mandibular angle ( J:254756 )

• at P0, the angular process is missing

absent mandibular condyloid process ( J:254756 )

• at P0, the condylar process is missing

absent mandibular coronoid process ( J:254756 )

• at P0, the coronoid process is missing

mandible hypoplasia ( J:254756 )

short mandible ( J:254756 )

• at E16.5, E18.5 and P0, the mandible is severely shortened

abnormal maxilla morphology ( J:254756 )

• newborns exhibit a hypoplastic and malformed maxilla

abnormal premaxilla morphology ( J:254756 )

• newborns exhibit a hypoplastic and malformed premaxilla

maxilla hypoplasia ( J:254756 )

short maxilla ( J:254756 )

• at E16.5, E18.5 and P0, the maxilla is severely shortened

domed cranium ( J:254756 )

• at P0, mice exhibit a domed skull

palate bone hypoplasia ( J:254756 )

• neonatal palatal bones are severely hypoplastic and thus palate is cleft

absent nasal capsule ( J:254756 )

• at P0, the nasal capsule is missing

palatal shelves fail to meet at midline ( J:254756 )

• palatal shelves are well developed and elevate to the horizontal position above tongue but fail to elongate or fuse at E14.5

• however, in vitro, palatal shelves show complete fusion with normal disappearance of the medial edge epithelium after 72 hours in organ culture

round face ( J:254756 )

• at E14.5, embryos exhibit a round face

complete cleft palate ( J:254756 )

• newborns exhibit a complete cleft palate caused by craniofacial skeleton defects

abnormal tongue morphology ( J:254756 )

• at E16.5 and E18.5, the tongue is arched rather than flat

protruding tongue ( J:254756 )

• at E16.5, E18.5 and P0, mice exhibit an exposed (protuberant) tongue

abnormal nasal septum cartilage morphology ( J:254756 )

• at E17.5, the nasal septum cartilage is abnormally ossified and malformed

short snout ( J:254756 )

• at E14.5, embryos exhibit a short snout

skeleton

abnormal craniofacial bone morphology ( J:254756 )

• newborns show severe craniofacial skeleton defects due to accelerated osteochondrogenic differentiation; the NCC-derived nasal capsule, maxilla, premaxilla, mandible, tympanic ring and body of hyoid bone are absent or severely malformed

• in contrast, mesoderm-derived skeleton elements including the parietal, lateral portion of the interparietal, supraoccipital, exoccipital, basioccipital and otic capsule are formed normally

abnormal hyoid bone morphology ( J:254756 )

• hyoid bone is heavily ossified at P0

abnormal hyoid bone body morphology ( J:254756 )

• newborns exhibit an over-ossified body of the hyoid bone

• premature ossification in the body of hyoid bone is first seen at E15.5

abnormal incisor morphology ( J:254756 )

• incisor tip is abnormally ossified at E14.5 and E15.5

abnormal mandible morphology ( J:254756 )

• newborns exhibit a hypoplastic and malformed mandible

• mandibular bone is heavily ossified at P0

absent mandibular angle ( J:254756 )

• at P0, the angular process is missing

absent mandibular condyloid process ( J:254756 )

• at P0, the condylar process is missing

absent mandibular coronoid process ( J:254756 )

• at P0, the coronoid process is missing

mandible hypoplasia ( J:254756 )

short mandible ( J:254756 )

• at E16.5, E18.5 and P0, the mandible is severely shortened

abnormal maxilla morphology ( J:254756 )

• newborns exhibit a hypoplastic and malformed maxilla

abnormal premaxilla morphology ( J:254756 )

• newborns exhibit a hypoplastic and malformed premaxilla

maxilla hypoplasia ( J:254756 )

short maxilla ( J:254756 )

• at E16.5, E18.5 and P0, the maxilla is severely shortened

domed cranium ( J:254756 )

• at P0, mice exhibit a domed skull

palate bone hypoplasia ( J:254756 )

• neonatal palatal bones are severely hypoplastic and thus palate is cleft

absent nasal capsule ( J:254756 )

• at P0, the nasal capsule is missing

abnormal nasal septum cartilage morphology ( J:254756 )

• at E17.5, the nasal septum cartilage is abnormally ossified and malformed

abnormal thyroid cartilage morphology ( J:254756 )

• thyroid cartilage is abnormally ossified at P0

abnormal bone ossification ( J:254756 )

• mice exhibit abnormal ossification within the maxilla and mandible, nasal septum, hyoid and laryngeal cartilages

premature bone ossification ( J:254756 )

• premature ossification in the body of hyoid bone is first seen at E15.5

premature metopic suture closure ( J:254756 )

• newborns exhibit premature frontal suture closure (craniosynostosis)

vision/eye

ocular hypertelorism ( J:254756 )

• at E14.5, embryos exhibit hypertelorism

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:254756 )

• neonatal tympanic rings are thickened and deformed

nervous system

nervous system phenotype ( J:254756 )

N • morphology of cranial nerves is grossly normal at E10.5 and E12.5

abnormal sympathetic ganglion morphology ( J:254756 )

• size of sympathetic ganglia is reduced at E16.5 and E17.5

small dorsal root ganglion ( J:254756 )

• size of dorsal root ganglia is reduced at E16.5 and E17.5

digestive/alimentary system

palate bone hypoplasia ( J:254756 )

• neonatal palatal bones are severely hypoplastic and thus palate is cleft

palatal shelves fail to meet at midline ( J:254756 )

• palatal shelves are well developed and elevate to the horizontal position above tongue but fail to elongate or fuse at E14.5

• however, in vitro, palatal shelves show complete fusion with normal disappearance of the medial edge epithelium after 72 hours in organ culture

complete cleft palate ( J:254756 )

• newborns exhibit a complete cleft palate caused by craniofacial skeleton defects

abnormal tongue morphology ( J:254756 )

• at E16.5 and E18.5, the tongue is arched rather than flat

protruding tongue ( J:254756 )

• at E16.5, E18.5 and P0, mice exhibit an exposed (protuberant) tongue

growth/size/body

abnormal incisor morphology ( J:254756 )

• incisor tip is abnormally ossified at E14.5 and E15.5

palate bone hypoplasia ( J:254756 )

• neonatal palatal bones are severely hypoplastic and thus palate is cleft

absent nasal capsule ( J:254756 )

• at P0, the nasal capsule is missing

palatal shelves fail to meet at midline ( J:254756 )

• palatal shelves are well developed and elevate to the horizontal position above tongue but fail to elongate or fuse at E14.5

• however, in vitro, palatal shelves show complete fusion with normal disappearance of the medial edge epithelium after 72 hours in organ culture

round face ( J:254756 )

• at E14.5, embryos exhibit a round face

complete cleft palate ( J:254756 )

• newborns exhibit a complete cleft palate caused by craniofacial skeleton defects

abnormal tongue morphology ( J:254756 )

• at E16.5 and E18.5, the tongue is arched rather than flat

protruding tongue ( J:254756 )

• at E16.5, E18.5 and P0, mice exhibit an exposed (protuberant) tongue

abnormal nasal septum cartilage morphology ( J:254756 )

• at E17.5, the nasal septum cartilage is abnormally ossified and malformed

short snout ( J:254756 )

• at E14.5, embryos exhibit a short snout

cardiovascular system

cardiovascular system phenotype ( J:254756 )

N • morphology of the cardiac outflow tract and cardiac development is grossly normal at E17.5

embryo

embryo phenotype ( J:254756 )

N • both cranial neural crest cell (CNCC) migration and CNCC proliferation are normal

Genotype
MGI:5558940

cn169

• Allelic Composition: Megf8^tm1.2Ddg/Megf8^tm1.2Ddg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

nervous system

nervous system phenotype ( J:206541 )

N • radial and ulnar nerve development is normal

abnormal axon fasciculation ( J:206541 )

• defasciculation of the ophthalmic branch of the trigeminal nerve but more variable than in null mice

abnormal ophthalmic nerve morphology ( J:206541 )

• defasciculation of the ophthalmic branch of the trigeminal nerve but more variable than in null mice

limbs/digits/tail

limbs/digits/tail phenotype ( J:206541 )

N • mice exhibit normal limb maturity

cellular

abnormal axon fasciculation ( J:206541 )

• defasciculation of the ophthalmic branch of the trigeminal nerve but more variable than in null mice

Genotype
MGI:4881721

cn170

• Allelic Composition: Wls^tm1.1Whsu/Wls^tm1.1Whsu; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * CBA/J

craniofacial

abnormal craniofacial morphology ( J:167835 )

• craniofacial abnormalities are detected at E13.5 and E16.5

abnormal neurocranium morphology ( J:167835 )

• severely impaired development

abnormal viscerocranium morphology ( J:167835 )

• severely impaired development

abnormal tooth morphology ( J:167835 )

• tooth defects are detected at E16.5

abnormal craniofacial development ( J:167835 )

• defects in tissues derived from neural crest cells

cleft palate ( J:167835 )

• at E16.5

nervous system

abnormal brain morphology ( J:167835 )

• brain abnormalities manifest at E10.5

abnormal hindbrain development ( J:167835 )

• absence of mid/hindbrain structures at E10.5

abnormal midbrain development ( J:167835 )

• absence of mid/hindbrain structures at E10.5

abnormal midbrain-hindbrain boundary development ( J:167835 )

• expression analysis indicates defects in the establishment of the isthmic organizer activity

absent choroid plexus ( J:167835 )

• at E13.5

absent tectum ( J:167835 )

• at E13.5 and E16.5

absent tegmentum ( J:167835 )

• at E16.5

absent cerebellum ( J:167835 )

• at E13.5 and E16.5

abnormal cranial nerve morphology ( J:167835 )

• fail to form properly

endocrine/exocrine glands

abnormal salivary gland morphology ( J:167835 )

• defects are detected at E16.5

abnormal serous gland morphology ( J:167835 )

• defects are detected at E16.5

digestive/alimentary system

cleft palate ( J:167835 )

• at E16.5

abnormal salivary gland morphology ( J:167835 )

• defects are detected at E16.5

skeleton

abnormal neurocranium morphology ( J:167835 )

• severely impaired development

abnormal viscerocranium morphology ( J:167835 )

• severely impaired development

abnormal tooth morphology ( J:167835 )

• tooth defects are detected at E16.5

growth/size/body

abnormal tooth morphology ( J:167835 )

• tooth defects are detected at E16.5

cleft palate ( J:167835 )

• at E16.5

Genotype
MGI:3718125

cn171

• Allelic Composition: Sox9^tm2Crm/Sox9⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

craniofacial

abnormal craniofacial morphology ( J:84790 )

• mildly hypoplastic craniofacial skeleton

cleft secondary palate ( J:84790 )

• small cleft secondary palate

digestive/alimentary system

cleft secondary palate ( J:84790 )

• small cleft secondary palate

growth/size/body

cleft secondary palate ( J:84790 )

• small cleft secondary palate

Genotype
MGI:3718120

cn172

• Allelic Composition: Sox9^tm2Crm/Sox9^tm2Crm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

Skeletal image of newborn Sox9^tm2Crm/Sox9^tm2Crm H2az2^{Tg(Wnt1-cre)11Rth}/0 mice

mortality/aging

neonatal lethality, complete penetrance ( J:84790 )

• die in the immediate postnatal period from respiratory distress

respiratory system

absent nasal capsule ( J:84790 )

absent thyroid cartilage ( J:84790 )

• absent thyroid cartilage

respiratory distress ( J:84790 )

craniofacial

abnormal craniofacial bone morphology ( J:84790 )

abnormal cranium morphology ( J:84790 )

absent basisphenoid bone ( J:84790 )

absent styloid process ( J:84790 )

absent Meckel's cartilage ( J:84790 )

absent presphenoid bone ( J:84790 )

abnormal hyoid bone morphology ( J:84790 )

absent hyoid bone body ( J:84790 )

• the body of the hyoid is missing

absent hyoid bone lesser horns ( J:84790 )

• the lesser horns are missing

small mandible ( J:84790 )

short mandible ( J:84790 )

domed cranium ( J:84790 )

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

abnormal craniofacial development ( J:84790 )

• all elements derived from the second and third branchial arches are missing

absent nasal capsule ( J:84790 )

cleft secondary palate ( J:84790 )

• large cleft secondary palate

short snout ( J:84790 )

skeleton

abnormal craniofacial bone morphology ( J:84790 )

abnormal cranium morphology ( J:84790 )

absent basisphenoid bone ( J:84790 )

absent styloid process ( J:84790 )

absent Meckel's cartilage ( J:84790 )

absent presphenoid bone ( J:84790 )

abnormal hyoid bone morphology ( J:84790 )

absent hyoid bone body ( J:84790 )

• the body of the hyoid is missing

absent hyoid bone lesser horns ( J:84790 )

• the lesser horns are missing

small mandible ( J:84790 )

short mandible ( J:84790 )

domed cranium ( J:84790 )

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

absent nasal capsule ( J:84790 )

absent thyroid cartilage ( J:84790 )

• absent thyroid cartilage

abnormal skeleton development ( J:84790 )

• no discernible chondrogenic mesenchyme condensations are seen at E13.5

abnormal bone ossification ( J:84790 )

• all cartilages and endochondral bones in the prechordal region are missing at E18.5

• endochondrial bone formation derived from cranial neural crest cells is missing, however cranial neural crest cells appear to migrate normally to their target locations

digestive/alimentary system

cleft secondary palate ( J:84790 )

• large cleft secondary palate

hearing/vestibular/ear

absent incus ( J:84790 )

absent malleus ( J:84790 )

absent stapes ( J:84790 )

growth/size/body

absent nasal capsule ( J:84790 )

cleft secondary palate ( J:84790 )

• large cleft secondary palate

short snout ( J:84790 )

Genotype
MGI:7343556

cn173

• Allelic Composition: Rere^tm1Dsco/Rere^tm1Dsco; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:306308 )

• mice are reported to exhibit perinatal lethality with no pups recovered at P0

• however, fetuses are found at Mendelian ratios at E15.5

craniofacial

abnormal palatal mesenchymal cell proliferation ( J:306308 )

• at E13.5, proliferation of mesenchymal cells is significantly reduced in the medial (oral) halves of the palatal shelves

• however, proliferative activity in the lateral halves of the palatal shelves is normal at E13.5

palatal shelves fail to meet at midline ( J:306308 )

• at E15.5, bilateral palatal shelves are elevated into horizontal position but fail to meet in the midline

decreased palatal shelf size ( J:306308 )

• at E13.5, the size of palatal shelves is smaller than that of control embryos in the anterior region

cleft palate ( J:306308 )

• at E15.5, cleft palate is observed along the anterior-posterior axis

delayed palatal shelf elevation ( J:306308 )

• at E14.5, palatal shelves remain in vertical position and are not horizontally elevated, unlike in controls

• however, vertical outgrowth of the palatal shelves is normal at E13.5

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:306308 )

• at E13.5, proliferation of mesenchymal cells is significantly reduced in the medial (oral) halves of the palatal shelves

• however, proliferative activity in the lateral halves of the palatal shelves is normal at E13.5

palatal shelves fail to meet at midline ( J:306308 )

• at E15.5, bilateral palatal shelves are elevated into horizontal position but fail to meet in the midline

decreased palatal shelf size ( J:306308 )

• at E13.5, the size of palatal shelves is smaller than that of control embryos in the anterior region

cleft palate ( J:306308 )

• at E15.5, cleft palate is observed along the anterior-posterior axis

delayed palatal shelf elevation ( J:306308 )

• at E14.5, palatal shelves remain in vertical position and are not horizontally elevated, unlike in controls

• however, vertical outgrowth of the palatal shelves is normal at E13.5

growth/size/body

abnormal palatal mesenchymal cell proliferation ( J:306308 )

• at E13.5, proliferation of mesenchymal cells is significantly reduced in the medial (oral) halves of the palatal shelves

• however, proliferative activity in the lateral halves of the palatal shelves is normal at E13.5

palatal shelves fail to meet at midline ( J:306308 )

• at E15.5, bilateral palatal shelves are elevated into horizontal position but fail to meet in the midline

decreased palatal shelf size ( J:306308 )

• at E13.5, the size of palatal shelves is smaller than that of control embryos in the anterior region

cleft palate ( J:306308 )

• at E15.5, cleft palate is observed along the anterior-posterior axis

delayed palatal shelf elevation ( J:306308 )

• at E14.5, palatal shelves remain in vertical position and are not horizontally elevated, unlike in controls

• however, vertical outgrowth of the palatal shelves is normal at E13.5

Genotype
MGI:3772558

cn174

• Allelic Composition: Hprt1^{tm2(Pgk1-Pac/TK)Brd}/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:130481 )

♂ • fewer than expected ganciclovir-treated mice are present at E12.5 due to death associated with cardiac defects

cardiovascular system

abnormal aortic arch morphology ( J:130481 )

♂

retroesophageal right subclavian artery ( J:130481 )

♂ • in mice treated with ganciclovir

interrupted aortic arch ( J:130481 )

♂ • 73% of ganciclovir-treated mice with truncus arteriosis exhibit type 4A with a small ascending aortic component, a large ductus arteriosus, and underdevelopment of the arch that is associated with interrupted aortic arch

interrupted aortic arch, type b ( J:130481 )

♂ • 10% of ganciclovir-treated mice with interrupted aortic arch exhibit type B interruptions between the take off of the left common carotid artery and the left subclavian artery

interrupted aortic arch, type c ( J:130481 )

♂ • 90% of ganciclovir-treated mice with interrupted aortic arch exhibit type C interruptions between the brachiocephalic artery and the left common carotid artery

right aortic arch ( J:130481 )

♂ • in mice treated with ganciclovir

abnormal cardiovascular development ( J:130481 )

♂ • male mice treated with two injections of ganciclovir at E7.5 and E8.5 exhibit truncus arteriosis and aortic arch anomalies while 100% of mice treated with ganciclovir injections at E7.5, E8.5 and E9.5 exhibit truncus arteriosis and aortic arch defects

abnormal cardiac outflow tract development ( J:130481 )

♂ • at E9.5, ganciclovir-treated mice the outflow tract is underdeveloped, assumes a more dorsal position compared to in wild-type mice, and exhibits elongation and looping defects

♂ • at E10.5, outflow tract cushion mesenchyme cellularity is reduced in mice treated with ganciclovir

♂ • the outflow tract fails to expand as in wild-type mice with 7 of 12 mice exhibiting hypoblastic aortic side and 5 of 12 mice with hypoplastic pulmonary side

persistent truncus arteriosus ( J:130481 )

♂ • at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without truncus arteriosus

♂ • 73% of ganciclovir-treated mice with truncus arteriosis exhibit type 4A (small ascending aortic component, a large ductus arteriosus, and underdevelopment of the arch that is associated with interrupted aortic arch) while 10% exhibit type A2 (absent ductus arteriosis and a large ascending aorta and aortic arch components), and 17% exhibit type A1 (partially formed aorticopulmonary septum separating the common trunk into aortic and pulmonary components distally)

♂ • 6 of 7 ganciclovir-treated mice exhibit the absence of the ductus arteriosus

abnormal heart morphology ( J:130481 )

♂

double outlet right ventricle ( J:130481 )

♂ • at E13.5, some ganciclovir-treated mice exhibit ventricular septum defects with double outlet right ventricle that is associated with a lack of semilunar valve to the artrioventricular valve fibrous continuity

overriding aortic valve ( J:130481 )

♂ • at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without dextroposition of the aorta, truncus arteriosus and double outlet right ventricle

♂ • 29% of ganciclovir-treated mice exhibit side-by-side great arteries while 71% exhibit an aorta that is posterior and to the right of the pulmonary artery

transposition of great arteries ( J:130481 )

♂ • in ganciclovir-treated mice

ventricular septal defect ( J:130481 )

♂ • at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without dextroposition of the aorta, truncus arteriosus and double outlet right ventricle that is either uncommitted or subaortic

enlarged heart ( J:130481 )

♂ • in ganciclovir-treated mice at E10.5

abnormal heart valve morphology ( J:130481 )

♂ • at E12.5-15.5, 3 of 12 ganciclovir-treated mice exhibit a hypoplastic fourth cusp on the truncal valve

abnormal mitral valve morphology ( J:130481 )

♂ • at E14.5, ganciclovir-treated mice exhibit a fibrous continuity between the aortic valve and the mitral valve that connects to the left ventricle

abnormal aortic valve morphology ( J:130481 )

♂ • at E14.5, ganciclovir-treated mice exhibit a fibrous continuity between the aortic valve and the mitral valve that connects to the left ventricle

abnormal heart right ventricle morphology ( J:130481 )

♂ • at E9.5, ganciclovir-treated mice the right ventricle is underdeveloped and more dorsally located compared to in wild-type mice

heart right ventricle outflow tract stenosis ( J:130481 )

♂ • 29% of ganciclovir-treated mice with double outlet right ventricles exhibit stenosis or hypoplasia of the pulmonary outflow tract

pulmonary valve stenosis ( J:130481 )

♂ • 29% of ganciclovir-treated mice with double outlet right ventricles exhibit stenosis or hypoplasia of the pulmonary outflow tract and pulmonary valve

♂ • 3 ganciclovir-treated mice with pulmonary stenosis exhibit an aortic valve positioned posterior and to the right of the pulmonary valve reminiscent of cases of tetralogy of Fallot

pericardial effusion ( J:130481 )

♂ • in ganciclovir-treated mice at E10.5

congestive heart failure ( J:130481 )

♂ • ganciclovir-treated mice that die by E12.5 exhibit signs of congestive heart failure such as generalized edema, enlarged heart, pericardial effusion and small gestational size

embryo

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

♂ • at E10.5, mice treated with ganciclovir exhibit little pharyngeal arch mesenchyme unlike wild-type mice

decreased embryo size ( J:130481 )

♂ • at E10.5, ganciclovir-treated mice are smaller than wild-type mice

abnormal neural crest cell morphology ( J:130481 )

♂ • when mice are treated with a single injection of ganciclovir at E7.5 neural crest cells of the cephalic portion of the neural tube and the first pharyngeal arch, but not cardiac neural crest cells, are ablated

♂ • when mice are treated with a single injection of ganciclovir at E8.5 neural crest cells at all axial levels are ablated whereas a double injection of ganciclovir at E8.5 results in ablation of neural crest cells along the full length of the neural tube and those that have migrated to the first three pharyngeal arches

♂ • however, when mice are treated with a single injection of ganciclovir at E7.0 neural crest cells develop normally

♂ • male mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit more extensive neural crest cells ablation than female mice

nervous system

abnormal neural crest cell morphology ( J:130481 )

♂ • when mice are treated with a single injection of ganciclovir at E7.5 neural crest cells of the cephalic portion of the neural tube and the first pharyngeal arch, but not cardiac neural crest cells, are ablated

♂ • when mice are treated with a single injection of ganciclovir at E8.5 neural crest cells at all axial levels are ablated whereas a double injection of ganciclovir at E8.5 results in ablation of neural crest cells along the full length of the neural tube and those that have migrated to the first three pharyngeal arches

♂ • however, when mice are treated with a single injection of ganciclovir at E7.0 neural crest cells develop normally

♂ • male mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit more extensive neural crest cells ablation than female mice

craniofacial

abnormal craniofacial morphology ( J:130481 )

♂ • at E9.5, male mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit more severe craniofacial defects than females

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

♂ • at E10.5, mice treated with ganciclovir exhibit little pharyngeal arch mesenchyme unlike wild-type mice

homeostasis/metabolism

pericardial effusion ( J:130481 )

♂ • in ganciclovir-treated mice at E10.5

edema ( J:130481 )

♂ • in ganciclovir-treated mice at E10.5

growth/size/body

enlarged heart ( J:130481 )

♂ • in ganciclovir-treated mice at E10.5

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

♂ • at E10.5, mice treated with ganciclovir exhibit little pharyngeal arch mesenchyme unlike wild-type mice

decreased embryo size ( J:130481 )

♂ • at E10.5, ganciclovir-treated mice are smaller than wild-type mice

Genotype
MGI:3697386

cn175

• Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm1Zfc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

nervous system

small tectum ( J:117035 )

• severe reduction in size at P0

small cerebellum ( J:117035 )

• severe reduction in size at P0

Genotype
MGI:3772559

cn176

• Allelic Composition: Hprt1^{tm2(Pgk1-Pac/TK)Brd}/Hprt1⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:130481 )

♀ • fewer than expected ganciclovir-treated mice are present at E12.5 due to death associated with cardiac defects

cardiovascular system

abnormal aortic arch morphology ( J:130481 )

♀

retroesophageal right subclavian artery ( J:130481 )

♀ • in mice treated with ganciclovir

interrupted aortic arch ( J:130481 )

♀ • 73% of ganciclovir-treated mice with truncus arteriosis exhibit type 4A with a small ascending aortic component, a large ductus arteriosus, and underdevelopment of the arch that is associated with interrupted aortic arch

interrupted aortic arch, type b ( J:130481 )

♀ • 10% of ganciclovir-treated mice with interrupted aortic arch exhibit type B interruptions (interruptions between the take off of the left common carotid artery and the left subclavian artery)

interrupted aortic arch, type c ( J:130481 )

♂ • 90% of ganciclovir-treated mice with interrupted aortic arch exhibit type C interruptions between the brachiocephalic artery and the left common carotid artery

right aortic arch ( J:130481 )

♀ • in mice treated with ganciclovir

abnormal cardiovascular development ( J:130481 )

♀ • 52% of mice treated with ganciclovir at E7.5 exhibit cardiac defects consisting of ventral septum defects and malalignment defects

♀ • mice treated with two injections of ganciclovir at E7.5 and E8.5 exhibit more severe cardiac phenotype than ones treated with a single dose at E7.5 including 8% truncus arteriosis

♀ • mice treated with three injections of ganciclovir at E7.5, E8.5 and E9.5 exhibit more severe cardiac defects than double injected mice with 75% truncus arteriosis, 15% double outlet right ventricle and 10% dextropositioned aorta

abnormal cardiac outflow tract development ( J:130481 )

♀ • at E9.5, ganciclovir-treated mice the outflow tract is underdeveloped, assumes a more dorsal position compared to in wild-type mice, and exhibits elongation and looping defects

♀ • at E10.5, outflow tract cushion mesenchyme cellularity is reduced in mice treated with ganciclovir

♀ • the outflow tract fails to expand as in wild-type mice with 7 of 12 mice exhibiting hypoblastic aortic side and 5 of 12 mice with hypoplastic pulmonary side

persistent truncus arteriosus ( J:130481 )

♀ • at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without truncus arteriosus

♀ • 73% of ganciclovir-treated mice with truncus arteriosis exhibit type 4A (small ascending aortic component, a large ductus arteriosus, and underdevelopment of the arch that is associated with interrupted aortic arch) while 10% exhibit type A2 (absent ductus arteriosis and a large ascending aorta and aortic arch components), and 17% exhibit type A1 (partially formed aorticopulmonary septum separating the common trunk into aortic and pulmonary components distally)

♀ • 6 of 7 ganciclovir-treated mice exhibit the absence of the ductus arteriosus

abnormal heart morphology ( J:130481 )

♀

double outlet right ventricle ( J:130481 )

♀ • at E13.5, some ganciclovir-treated mice exhibit ventricular septum defects with double outlet right ventricle that sis associated with a lack of semilunar valve to the artrioventricular valve fibrous continuity

♀ • 29% of ganciclovir-treated mice with double outlet right ventricles exhibit stenosis or hypoplasia of the pulmonary outflow tract and pulmonary valve

overriding aortic valve ( J:130481 )

♀ • at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without dextroposition of the aorta, truncus arteriosus and double outlet right ventricle

♀ • 29% of ganciclovir-treated mice exhibit side-by-side great arteries while 71% exhibit an aorta that is posterior and to the right of the pulmonary artery

transposition of great arteries ( J:130481 )

♀ • in ganciclovir-treated mice

ventricular septal defect ( J:130481 )

♀ • at E13.5, ganciclovir-treated mice exhibit ventricular septum defects with or without dextroposition of the aorta, truncus arteriosus and double outlet right ventricle that is either uncommitted or subaortic

enlarged heart ( J:130481 )

♀ • in ganciclovir-treated mice at E10.5

abnormal heart valve morphology ( J:130481 )

♀ • at E12.5-15.5, 3 of 12 ganciclovir-treated mice exhibit a hypoplastic fourth cusp on the truncal valve

abnormal mitral valve morphology ( J:130481 )

♀ • at E14.5, ganciclovir-treated mice exhibit a fibrous continuity between the aortic valve and the mitral valve that connects to the left ventricle

abnormal aortic valve morphology ( J:130481 )

♀ • at E14.5, ganciclovir-treated mice exhibit a fibrous continuity between the aortic valve and the mitral valve that connects to the left ventricle

abnormal heart right ventricle morphology ( J:130481 )

♀ • at E9.5, ganciclovir-treated mice the right ventricle is underdeveloped and more dorsally located compared to in wild-type mice

heart right ventricle outflow tract stenosis ( J:130481 )

♀ • 29% of ganciclovir-treated mice with double outlet right ventricles exhibit stenosis or hypoplasia of the pulmonary outflow tract and pulmonary valve

pulmonary valve stenosis ( J:130481 )

♀ • 29% of ganciclovir-treated mice with double outlet right ventricles exhibit stenosis or hypoplasia of the pulmonary outflow tract and pulmonary valve

♀ • 3 ganciclovir-treated mice with pulmonary stenosis exhibit an aortic valve positioned posterior and to the right of the pulmonary valve reminiscent of cases of tetralogy of Fallot

pericardial effusion ( J:130481 )

♀ • in ganciclovir-treated mice at E10.5

congestive heart failure ( J:130481 )

♀ • ganciclovir-treated mice that die by E12.5 exhibit signs of congestive heart failure such as generalized edema, enlarged heart, pericardial effusion and small gestational size

embryo

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

♀ • at E10.5, mice treated with ganciclovir exhibit reduced pharyngeal arch mesenchyme compared to wild-type mice

decreased embryo size ( J:130481 )

♀ • at E10.5, ganciclovir-treated mice are smaller than wild-type mice

abnormal neural crest cell morphology ( J:130481 )

♀ • when mice are treated with a single injection of ganciclovir at E7.5 neural crest cells of the cephalic portion of the neural tube and the first pharyngeal arch, but not cardiac neural crest cells, are ablated

♀ • however, when mice are treated with a single injection of ganciclovir at E7.0 neural crest cells develop normally

♀ • when mice are treated with a single injection of ganciclovir at E8.5 neural crest cells at all axial levels are ablated whereas a double injection of ganciclovir at E8.5 results in ablation of neural crest cells along the full length of the neural tube and those that have migrated to the first three pharyngeal arches

♀ • female mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit less extensive neural crest cells ablation than male mice

nervous system

abnormal neural crest cell morphology ( J:130481 )

♀ • when mice are treated with a single injection of ganciclovir at E7.5 neural crest cells of the cephalic portion of the neural tube and the first pharyngeal arch, but not cardiac neural crest cells, are ablated

♀ • however, when mice are treated with a single injection of ganciclovir at E7.0 neural crest cells develop normally

♀ • when mice are treated with a single injection of ganciclovir at E8.5 neural crest cells at all axial levels are ablated whereas a double injection of ganciclovir at E8.5 results in ablation of neural crest cells along the full length of the neural tube and those that have migrated to the first three pharyngeal arches

♀ • female mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit less extensive neural crest cells ablation than male mice

craniofacial

abnormal craniofacial morphology ( J:130481 )

♀ • at E9.5, mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit craniofacial defects

♀ • at E9.5, female mice injected with a single dose of ganciclovir at E7.5 and E8.5 exhibit less severe craniofacial defects than males

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

♀ • at E10.5, mice treated with ganciclovir exhibit reduced pharyngeal arch mesenchyme compared to wild-type mice

homeostasis/metabolism

pericardial effusion ( J:130481 )

♀ • in ganciclovir-treated mice at E10.5

edema ( J:130481 )

♀ • in ganciclovir-treated mice at E10.5

growth/size/body

enlarged heart ( J:130481 )

♀ • in ganciclovir-treated mice at E10.5

abnormal pharyngeal arch mesenchyme morphology ( J:130481 )

♀ • at E10.5, mice treated with ganciclovir exhibit reduced pharyngeal arch mesenchyme compared to wild-type mice

decreased embryo size ( J:130481 )

♀ • at E10.5, ganciclovir-treated mice are smaller than wild-type mice

Genotype
MGI:4818571

cn177

• Allelic Composition: Lmx1b^tm1Rjo/Lmx1b^tm4.1Rjo; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J

vision/eye

ciliary body hypoplasia ( J:161793 )

• hypoplastic at E18.5

iris stroma hypoplasia ( J:161793 )

• at E18.5

irregularly shaped pupil ( J:161793 )

• at E18.5

• less severe than in Lmxb1^tm1Rjo homozygous mice

abnormal cornea morphology ( J:161793 )

cornea vascularization ( J:161793 )

• blood vessels are present in the corneal stroma

abnormal cornea stroma morphology ( J:161793 )

• less dense

• blood vessels are present

decreased eye anterior chamber depth ( J:161793 )

• decrease in anterior chamber depth

abnormal lens epithelium morphology ( J:161793 )

• thickened

microphthalmia ( J:161793 )

• at E18.5

cardiovascular system

cornea vascularization ( J:161793 )

• blood vessels are present in the corneal stroma

Genotype
MGI:5490240

cn178

• Allelic Composition: Fkbp1a^tm1.1Shou/Fkbp1a^tm1Zuk; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J

mortality/aging

premature death ( J:195489 )

• all mutants survive through birth, but all die within 1 month of birth (proposed to be due to defective thymus development)

cardiovascular system

cardiovascular system phenotype ( J:195489 )

N • animals show normal ventricular chamber formation; normal trabeculation and compaction in ventricles are observed

Genotype
MGI:4461312

cn179

• Allelic Composition: Hoxa3^tm1Mrc/Hoxa3^tm3.1Nrm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J

endocrine/exocrine glands

ectopic parathyroid gland ( J:161296 )

• at E15.5, parathyroids are ectopically attached to the thymus unlike in wild-type mice

• however, parathyroid morphology is normal

ectopic thymus ( J:161296 )

• at E15.5, thymic lobes are absent from their normal position and are ectopically attached to the pharynx unlike in wild-type mice

• however, thymic lobe morphology is normal

hematopoietic system

ectopic thymus ( J:161296 )

• at E15.5, thymic lobes are absent from their normal position and are ectopically attached to the pharynx unlike in wild-type mice

• however, thymic lobe morphology is normal

immune system

ectopic thymus ( J:161296 )

• at E15.5, thymic lobes are absent from their normal position and are ectopically attached to the pharynx unlike in wild-type mice

• however, thymic lobe morphology is normal

Genotype
MGI:3831922

cn180

• Allelic Composition: Dvl3^tm1Awb/Dvl3^tm1Awb; Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6J * CBA/J

nervous system

nervous system phenotype ( J:142392 )

N • at E10.5, E14.5 and E18.5, cardiac neural crest cell development is normal

Genotype
MGI:5659976

cn181

• Allelic Composition: Dph1^tm2Bhr/Dph1⁺; Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * CBA/J

growth/size/body

acephaly ( J:214744 )

• loss of head structures in E10.5 embryos

Genotype
MGI:5659977

cn182

• Allelic Composition: Dph1^tm2Bhr/Dph1^tm2Bhr; Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * CBA/J

growth/size/body

growth/size/body region phenotype ( J:214744 )

N • embryos retain their heads and appear normal at E10.5

Genotype
MGI:3848822

cn183

• Allelic Composition: Plxnd1^tm1.1Tmj/Plxnd1^tm1.1Tmj; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6 * CBA/J

mortality/aging

mortality/aging ( J:143763 )

N • normal numbers of mice are born

cardiovascular system

cardiovascular system phenotype ( J:143763 )

N • mice exhibit normal cardiac development with normal outflow tract septation

Genotype
MGI:3848832

cn184

• Allelic Composition: Plxnd1^tm1Ddg/Plxnd1^tm1.1Tmj; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6J * CBA/J

nervous system

abnormal motor neuron morphology ( J:149553 )

• mice exhibit a 3-fold increase in the number of proprioceptive synaptic contacts with identified cutaneous maximus motor neurons compared to in wild-type mice

abnormal motor neuron innervation pattern ( J:149553 )

• 43% of cutaneous motor neurons receive monosynaptic input after stimulation of cutaneous maximus afferents unlike wild-type motor neurons

• however, monosynaptic specificity from the tricep is normal

behavior/neurological

behavior/neurological phenotype ( J:149553 )

N • mice exhibit no behavior deficits

Genotype
MGI:5550533

cn185

• Allelic Composition: Plxnd1^tm1Ddg/Plxnd1^tm1.1Tmj; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA/J

nervous system

nervous system phenotype ( J:205528 )

N • the patterns of hamstring knee flexor muscle and gluteus homonymous monosynaptic sensory-motor connections are similar to controls

abnormal excitatory postsynaptic potential ( J:205528 )

• a large amplitude of monosynaptic EPSP is seen in 45% of gluteus motor neurons unlike in controls

Genotype
MGI:4838405

cn186

• Allelic Composition: Wls^tm1.1Lan/Wls^tm1.1Lan; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA/J * SJL

mortality/aging

perinatal lethality ( J:164701 )

embryo

short rostral-caudal axis ( J:164701 )

• mutant mice exhibit a shortened anteroposterior axis

abnormal neural tube morphology ( J:164701 )

• mutant phenotype is obvious as early as E9.5 due to the presence of a shortened neural tube

nervous system

abnormal neural tube morphology ( J:164701 )

• mutant phenotype is obvious as early as E9.5 due to the presence of a shortened neural tube

absent midbrain-hindbrain boundary ( J:164701 )

• mutant mice exhibit no apparent isthmus

decreased forebrain size ( J:164701 )

• at E12.5 a severely truncated forebrain

absent choroid plexus ( J:164701 )

• at E12.5

absent midbrain ( J:164701 )

• absent midbrain

abnormal metencephalon morphology ( J:164701 )

• at E10.5 verified deletion of regions of the metencephalon

absent cerebellum ( J:164701 )

• at E12.5

Genotype
MGI:2674120

cn187

• Allelic Composition: Ctnnb1^tm2Kem/Ctnnb1^tm2.1Kem; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

mortality/aging

prenatal lethality, complete penetrance ( J:67966 )

• no mutant mice are born

craniofacial

absent craniofacial bones ( J:67966 )

• craniofacial bones derived from neural crest cells are absent

• bones present include optic vesicle, basioccipital, exoccipital

skeleton

absent craniofacial bones ( J:67966 )

• craniofacial bones derived from neural crest cells are absent

• bones present include optic vesicle, basioccipital, exoccipital

nervous system

abnormal neural tube morphology ( J:67966 )

• shortened neural tube

abnormal brain morphology ( J:67966 )

abnormal brain development ( J:67966 )

• brain morphogenesis grossly abnormal between E10.5 and 18.5

absent midbrain-hindbrain boundary ( J:67966 )

• isthmic border between midbrain and rhombencephalon not visible

absent choroid plexus ( J:67966 )

• choroid plexus absent by E12.5

abnormal trigeminal V mesencephalic nucleus morphology ( J:67966 )

• indistinctly formed

absent midbrain ( J:67966 )

• by E10.5 parts of the midbrain are missing

• no discernable midbrain by E12.5

abnormal telencephalon morphology ( J:67966 )

• enlarged telencephalon

• walls of cephalic vesicles thinner

abnormal hindbrain morphology ( J:67966 )

• anterior hindbrain is missing by E10.5

• poorly formed connections between cranial ganglia and hindbrain

absent cerebellum ( J:67966 )

• cerebellum is missing at E12.5

absent metencephalon ( J:67966 )

• anterior hindbrain is missing by E10.5

abnormal cranial nerve morphology ( J:67966 )

abnormal facial nerve morphology ( J:67966 )

• combined ganglion with vestibulocochlear nerve abnormal

abnormal glossopharyngeal nerve morphology ( J:67966 )

• roots poorly formed

abnormal hypoglossal nerve morphology ( J:67966 )

• roots poorly formed

• hypoglossal nerve missing

absent oculomotor nerve ( J:67966 )

abnormal vagus nerve morphology ( J:67966 )

• roots poorly formed

abnormal dorsal root ganglion morphology ( J:67966 )

• first spinal root ganglion missing

• other spinal root ganglia severely affected as well

embryo

abnormal neural tube morphology ( J:67966 )

• shortened neural tube

Genotype
MGI:3797650

cn188

• Allelic Composition: Myocd^tm1Msp/Myocd^tm1Msp; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:131288 )

• majority of mutants die before P3

cardiovascular system

abnormal angiogenesis ( J:131288 )

• the architecture of the neointima and tunica media of the ductus arteriosus is disturbed

• increase in fibronectin and laminin in the ductus arteriosus

patent ductus arteriosus ( J:131288 )

• all mutants at P2 exhibit patent ductus arteriosus

• E16.5 mutants exhibit diminished expression of smooth muscle cell contractile proteins in the ductus arteriosus

• however, patterning of the cardiac outflow tract and great arteries is normal

abnormal vascular smooth muscle morphology ( J:131288 )

• the smooth muscle cells of the ductus arteriosus are heterogeneous in size with a loss of spindle-like cell morphology

• the smooth muscle cells of the ductus arteriosus have relatively few myofibers and show an increase in synthetic organelles, including the rough ER and Golgi

homeostasis/metabolism

cyanosis ( J:131288 )

• pups become cyanotic shortly after birth

muscle

abnormal vascular smooth muscle morphology ( J:131288 )

• the smooth muscle cells of the ductus arteriosus are heterogeneous in size with a loss of spindle-like cell morphology

• the smooth muscle cells of the ductus arteriosus have relatively few myofibers and show an increase in synthetic organelles, including the rough ER and Golgi

cellular

patent ductus arteriosus ( J:131288 )

• all mutants at P2 exhibit patent ductus arteriosus

• E16.5 mutants exhibit diminished expression of smooth muscle cell contractile proteins in the ductus arteriosus

• however, patterning of the cardiac outflow tract and great arteries is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
patent ductus arteriosus		DOID:13832	OMIM:607411	J:131288

Genotype
MGI:3835760

cn189

• Allelic Composition: Gt(ROSA)26Sor^{tm1(PDGFRA*)Hsc}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

skeleton

abnormal interfrontal bone morphology ( J:145520 )

• the interfrontal bone is noticeably larger than controls starting at E16.5

• newborns have an overgrowth of the interfrontal bone in the anterior frontal calvaria

• the frontal bones of five day old mice are structured more trabecularly and have an increased portion of calcified bone matrix

abnormal intramembranous bone ossification ( J:145520 )

• three-fold more osteprogenitors are actively proliferating within the frontal sutures of E19.5 fetuses compared to controls

• 1.4 fold more primary osteoblasts of calvaria tissue actively proliferate in vitro compared to controls

premature intramembranous bone ossification ( J:145520 )

• all osteprogenitors from interfrontal bones differentiate into osteoblasts after three days in culture compared to only half of controls

premature coronal suture closure ( J:145520 )

• coronal suture closing begins 15 days after birth and is completed by 20 days of age

premature metopic suture closure ( J:145520 )

• premature fusion of the posterior frontal suture is seen at 5 days after birth

• by 10 days after birth, fusion of the anterior frontal suture becomes evident

craniofacial

abnormal interfrontal bone morphology ( J:145520 )

• the interfrontal bone is noticeably larger than controls starting at E16.5

• newborns have an overgrowth of the interfrontal bone in the anterior frontal calvaria

• the frontal bones of five day old mice are structured more trabecularly and have an increased portion of calcified bone matrix

short snout ( J:145520 )

• a shortened craniofacial area is noticeable at one week after birth and worsens as the mice age

growth/size/body

short snout ( J:145520 )

• a shortened craniofacial area is noticeable at one week after birth and worsens as the mice age

Genotype
MGI:3776056

cn190

• Allelic Composition: Nf1^tm1Par/Nf1^tm1Tyj; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

embryo

abnormal neural crest cell morphology ( J:131914 )

• increase in the frequency of neural crest stem cells in the sympathetic chain, dorsal root ganglia, and sciatic nerve at E13 but not at E17 to E19

nervous system

abnormal neural crest cell morphology ( J:131914 )

• increase in the frequency of neural crest stem cells in the sympathetic chain, dorsal root ganglia, and sciatic nerve at E13 but not at E17 to E19

Genotype
MGI:4440902

cn191

• Allelic Composition: Bhlhe22^tm2.1Meg/Bhlhe22^tm2.1Meg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

behavior/neurological

excessive scratching ( J:158273 )

• mice show excessive scratching in response to pruritic agent compound 48/80

abnormal chemical nociception ( J:158273 )

• mice show excessive scratching in response to pruritic agent compound 48/80

integument

skin lesions ( J:158273 )

• animals display self-inflicted skin lesions, identical in frequency, location, and severity to those observed in Bhlhe22^tm1Meg homozygotes

Genotype
MGI:4415143

cn192

• Allelic Composition: Hoxa2^tm1.1Fmr/Hoxa2^tm1.1Fmr; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

craniofacial

abnormal craniofacial bone morphology ( J:102845 )

• structures derived from the second arch, including the stapes, styloid process, and lesser horns of the hyoid bone, are absent and replaced by first arch-like derived structures, including duplicated incus, malleus, and tympanic bone, transformed gonial bone, and partially duplicated Meckel's cartilage, with reverse polarity

absent styloid process ( J:102845 )

abnormal Meckel's cartilage morphology ( J:102845 )

• partially duplicated

abnormal hyoid bone morphology ( J:102845 )

• the lesser horns of the hyoid bone are absent

abnormal incus morphology ( J:102845 )

• duplicated

abnormal malleus morphology ( J:102845 )

abnormal gonial bone morphology ( J:102845 )

• the gonial bone appears transformed such that it is enlarged and stretches across, bridging over the two halves of the mirror duplication

absent stapes ( J:102845 )

absent outer ear ( J:102845 )

hearing/vestibular/ear

abnormal incus morphology ( J:102845 )

• duplicated

abnormal malleus morphology ( J:102845 )

abnormal gonial bone morphology ( J:102845 )

• the gonial bone appears transformed such that it is enlarged and stretches across, bridging over the two halves of the mirror duplication

absent stapes ( J:102845 )

absent outer ear ( J:102845 )

duplicated tympanic ring ( J:102845 )

• duplicated tympanic bone

skeleton

abnormal craniofacial bone morphology ( J:102845 )

• structures derived from the second arch, including the stapes, styloid process, and lesser horns of the hyoid bone, are absent and replaced by first arch-like derived structures, including duplicated incus, malleus, and tympanic bone, transformed gonial bone, and partially duplicated Meckel's cartilage, with reverse polarity

absent styloid process ( J:102845 )

abnormal Meckel's cartilage morphology ( J:102845 )

• partially duplicated

abnormal hyoid bone morphology ( J:102845 )

• the lesser horns of the hyoid bone are absent

abnormal incus morphology ( J:102845 )

• duplicated

abnormal malleus morphology ( J:102845 )

abnormal gonial bone morphology ( J:102845 )

• the gonial bone appears transformed such that it is enlarged and stretches across, bridging over the two halves of the mirror duplication

absent stapes ( J:102845 )

growth/size/body

absent outer ear ( J:102845 )

Genotype
MGI:7378837

cn193

• Allelic Composition: Prmt1^tm1Rchd/Prmt1^tm1Rchd; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:289243 )

• die soon after birth

craniofacial

abnormal craniofacial bone morphology ( J:264205 )

• 3D microCT analysis of neonatal craniofacial bones showed alterations in the shape and volume of the premaxilla, maxilla, palatine bone, frontal bone, and mandible

• however, alterations in the half width and height of craniofacial bones are generally mild or undetectable

wide metopic suture ( J:264205 )

• the frontal suture is dramatically affected, as the gap between the paired neonatal frontal bones is increased by 1.3-fold relative to controls

abnormal frontal bone morphology ( J:264205 )

• the width of the anterior narrow side of the neonatal frontal bone is increased by ~132%, whereas the width of the posterior wide side is reduced by only 12%

small frontal bone ( J:264205 )

• the volume and surface area of the frontal bones are reduced by ~18% and 23%, respectively

short frontal bone ( J:264205 )

• frontal bone length is reduced by ~11% relative to controls

• however, height is not significantly altered

abnormal alveolar process morphology ( J:264205 )

• newborns show a significant loss of alveolar bone around both maxillary and mandibular incisors

short incisors ( J:264205 )

• the length of neonatal maxillary and mandibular incisors is severely reduced

short lower incisors ( J:264205 )

short upper incisors ( J:264205 )

small mandible ( J:264205 , J:289243 )

• the volume of the neonatal mandible is reduced by ~35% relative to controls (J:264205)

short mandible ( J:264205 , J:289243 )

• the volume of the neonatal mandible is reduced by ~35% relative to controls (J:264205)

• however, the width is not significantly altered (J:264205)

• mandibles show a 17% decrease in length, proportional to decrease in head size (J:289243)

abnormal maxillary shelf morphology ( J:264205 )

• the palatine process of the neonatal maxilla is severely disrupted, as the gap between the paired palatine processes of the maxilla is increased by ~5-fold relative to controls

abnormal premaxilla morphology ( J:264205 )

• neonatal premaxillae show a 12-14% reduction in length and a 20% reduction in height, whereas width is increased by 6% relative to controls

• both the angle and extension of the posterior tip of the premaxilla are affected, altering its shape

small premaxilla ( J:264205 )

• the volume of the premaxilla is reduced by 25% relative to controls

short premaxilla ( J:264205 )

small maxilla ( J:264205 )

• neonatal maxillae exhibit a much smaller body, with a 18% reduction in length, a 25% reduction in half width and a 16% decrease in height relative to controls

• the volume of the whole maxilla is reduced by ~30% relative to controls

short maxilla ( J:264205 )

abnormal palatine bone morphology ( J:264205 )

• neonatal palatine bones show a 35% reduction in length, whereas the gap between the paired bones is increased by 25-86%

• the volume of the palatine bones is reduced by ~30% relative to controls

• however, the half width and height of the palatine bones are relatively normal

absent palatine bone horizontal plate ( J:264205 )

• the horizontal palatine bones are almost completely absent, consistent with the cleft palate phenotype

abnormal craniofacial development ( J:264205 )

• at E12.5, RNA expression of Msx1 is significantly reduced in the frontal bone primordium and the developing mandible

abnormal palatal mesenchymal cell proliferation ( J:289243 )

• impaired proliferation of palatal mesenchymal cells

delayed palatal shelf elevation ( J:289243 )

• delay in development at E14.5 but shelves have elevated at E15.5

palatal shelves fail to meet at midline ( J:289243 )

• at E15.5

complete cleft palate ( J:289243 )

• complete cleft palate with 100% penetrance

decreased tongue size ( J:289243 )

short tongue ( J:289243 )

• proportional to decrease in head size

shortened head ( J:289243 )

• show a 14.7% decrease in head length

behavior/neurological

absent gastric milk in neonates ( J:289243 )

skeleton

abnormal craniofacial bone morphology ( J:264205 )

• 3D microCT analysis of neonatal craniofacial bones showed alterations in the shape and volume of the premaxilla, maxilla, palatine bone, frontal bone, and mandible

• however, alterations in the half width and height of craniofacial bones are generally mild or undetectable

wide metopic suture ( J:264205 )

• the frontal suture is dramatically affected, as the gap between the paired neonatal frontal bones is increased by 1.3-fold relative to controls

abnormal frontal bone morphology ( J:264205 )

• the width of the anterior narrow side of the neonatal frontal bone is increased by ~132%, whereas the width of the posterior wide side is reduced by only 12%

small frontal bone ( J:264205 )

• the volume and surface area of the frontal bones are reduced by ~18% and 23%, respectively

short frontal bone ( J:264205 )

• frontal bone length is reduced by ~11% relative to controls

• however, height is not significantly altered

abnormal alveolar process morphology ( J:264205 )

• newborns show a significant loss of alveolar bone around both maxillary and mandibular incisors

short incisors ( J:264205 )

• the length of neonatal maxillary and mandibular incisors is severely reduced

short lower incisors ( J:264205 )

short upper incisors ( J:264205 )

small mandible ( J:264205 , J:289243 )

• the volume of the neonatal mandible is reduced by ~35% relative to controls (J:264205)

short mandible ( J:264205 , J:289243 )

• the volume of the neonatal mandible is reduced by ~35% relative to controls (J:264205)

• however, the width is not significantly altered (J:264205)

• mandibles show a 17% decrease in length, proportional to decrease in head size (J:289243)

abnormal maxillary shelf morphology ( J:264205 )

• the palatine process of the neonatal maxilla is severely disrupted, as the gap between the paired palatine processes of the maxilla is increased by ~5-fold relative to controls

abnormal premaxilla morphology ( J:264205 )

• neonatal premaxillae show a 12-14% reduction in length and a 20% reduction in height, whereas width is increased by 6% relative to controls

• both the angle and extension of the posterior tip of the premaxilla are affected, altering its shape

small premaxilla ( J:264205 )

• the volume of the premaxilla is reduced by 25% relative to controls

short premaxilla ( J:264205 )

small maxilla ( J:264205 )

• neonatal maxillae exhibit a much smaller body, with a 18% reduction in length, a 25% reduction in half width and a 16% decrease in height relative to controls

• the volume of the whole maxilla is reduced by ~30% relative to controls

short maxilla ( J:264205 )

abnormal palatine bone morphology ( J:264205 )

• neonatal palatine bones show a 35% reduction in length, whereas the gap between the paired bones is increased by 25-86%

• the volume of the palatine bones is reduced by ~30% relative to controls

• however, the half width and height of the palatine bones are relatively normal

absent palatine bone horizontal plate ( J:264205 )

• the horizontal palatine bones are almost completely absent, consistent with the cleft palate phenotype

digestive/alimentary system

abnormal maxillary shelf morphology ( J:264205 )

• the palatine process of the neonatal maxilla is severely disrupted, as the gap between the paired palatine processes of the maxilla is increased by ~5-fold relative to controls

absent palatine bone horizontal plate ( J:264205 )

• the horizontal palatine bones are almost completely absent, consistent with the cleft palate phenotype

abnormal palatal mesenchymal cell proliferation ( J:289243 )

• impaired proliferation of palatal mesenchymal cells

delayed palatal shelf elevation ( J:289243 )

• delay in development at E14.5 but shelves have elevated at E15.5

palatal shelves fail to meet at midline ( J:289243 )

• at E15.5

complete cleft palate ( J:289243 )

• complete cleft palate with 100% penetrance

decreased tongue size ( J:289243 )

short tongue ( J:289243 )

• proportional to decrease in head size

growth/size/body

abnormal alveolar process morphology ( J:264205 )

• newborns show a significant loss of alveolar bone around both maxillary and mandibular incisors

short incisors ( J:264205 )

• the length of neonatal maxillary and mandibular incisors is severely reduced

short lower incisors ( J:264205 )

short upper incisors ( J:264205 )

abnormal maxillary shelf morphology ( J:264205 )

• the palatine process of the neonatal maxilla is severely disrupted, as the gap between the paired palatine processes of the maxilla is increased by ~5-fold relative to controls

absent palatine bone horizontal plate ( J:264205 )

• the horizontal palatine bones are almost completely absent, consistent with the cleft palate phenotype

abnormal palatal mesenchymal cell proliferation ( J:289243 )

• impaired proliferation of palatal mesenchymal cells

delayed palatal shelf elevation ( J:289243 )

• delay in development at E14.5 but shelves have elevated at E15.5

palatal shelves fail to meet at midline ( J:289243 )

• at E15.5

complete cleft palate ( J:289243 )

• complete cleft palate with 100% penetrance

decreased tongue size ( J:289243 )

short tongue ( J:289243 )

• proportional to decrease in head size

shortened head ( J:289243 )

• show a 14.7% decrease in head length

microcephaly ( J:289243 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft palate		DOID:674		J:289243

Genotype
MGI:5312862

cn194

• Allelic Composition: Bmp4^{tm2(tetO-Bmp4,lacZ)Jfm}/Bmp4⁺; Gt(ROSA)26Sor^{tm1(rtTA,EGFP)Nagy}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

craniofacial

abnormal craniofacial bone morphology ( J:181229 )

• following doxycycline treatment at E10.5 a strong reduction in rostral bony elements is seen and multiple translucent areas are seen in the skull bones

• later treatment with doxycycline has less dramatic effects on bone morphology

enlarged Meckel's cartilage ( J:181229 )

• enlarged following doxycycline treatment at E12.5

abnormal frontal bone morphology ( J:181229 )

• reduced or absent following doxycycline treatment at E12.5

absent frontal bone ( J:181229 )

• following doxycycline treatment at E12.5

small frontal bone ( J:181229 )

• following doxycycline treatment at E12.5

abnormal mandible morphology ( J:181229 )

• doxycycline treatment at E11.5 or E10.5 results in a shorter mandible with a more pointed appearance

• doxycycline treatment at E13.5 results in a mandible with a more pointed appearance

small mandibular coronoid process ( J:181229 )

• reduced following doxycycline treatment at E13.5

short mandible ( J:181229 )

• following doxycycline treatment at E12.5, E11.5 or at E10.5

abnormal maxilla morphology ( J:181229 )

• doxycycline treatment at E10.5 results in a shorter maxilla with a more pointed appearance

short maxilla ( J:181229 )

• following doxycycline treatment at E10.5

absent nasal bone ( J:181229 )

• following doxycycline treatment at E12.5 in some mice

small nasal bone ( J:181229 )

• following doxycycline treatment at E10.5, E12.5, or E13.5

short face ( J:181229 )

• shortened face following doxycycline treatment at E10.5

cleft palate ( J:181229 )

• following doxycycline treatment at E12.5

abnormal nasal cartilage morphology ( J:181229 )

• enlarged nasal cartilages following doxycycline treatment at E12.5 or E10.5

round head ( J:181229 )

• following doxycycline treatment at E10.5 the overall shape of the head is more rounded

vision/eye

abnormal eye distance/ position ( J:181229 )

• following doxycycline treatment at E10.5 the orientation of the eyes is more anterior

respiratory system

absent nasal bone ( J:181229 )

• following doxycycline treatment at E12.5 in some mice

small nasal bone ( J:181229 )

• following doxycycline treatment at E10.5, E12.5, or E13.5

abnormal nasal cartilage morphology ( J:181229 )

• enlarged nasal cartilages following doxycycline treatment at E12.5 or E10.5

digestive/alimentary system

cleft palate ( J:181229 )

• following doxycycline treatment at E12.5

skeleton

abnormal craniofacial bone morphology ( J:181229 )

• following doxycycline treatment at E10.5 a strong reduction in rostral bony elements is seen and multiple translucent areas are seen in the skull bones

• later treatment with doxycycline has less dramatic effects on bone morphology

enlarged Meckel's cartilage ( J:181229 )

• enlarged following doxycycline treatment at E12.5

abnormal frontal bone morphology ( J:181229 )

• reduced or absent following doxycycline treatment at E12.5

absent frontal bone ( J:181229 )

• following doxycycline treatment at E12.5

small frontal bone ( J:181229 )

• following doxycycline treatment at E12.5

abnormal mandible morphology ( J:181229 )

• doxycycline treatment at E11.5 or E10.5 results in a shorter mandible with a more pointed appearance

• doxycycline treatment at E13.5 results in a mandible with a more pointed appearance

small mandibular coronoid process ( J:181229 )

• reduced following doxycycline treatment at E13.5

short mandible ( J:181229 )

• following doxycycline treatment at E12.5, E11.5 or at E10.5

abnormal maxilla morphology ( J:181229 )

• doxycycline treatment at E10.5 results in a shorter maxilla with a more pointed appearance

short maxilla ( J:181229 )

• following doxycycline treatment at E10.5

absent nasal bone ( J:181229 )

• following doxycycline treatment at E12.5 in some mice

small nasal bone ( J:181229 )

• following doxycycline treatment at E10.5, E12.5, or E13.5

abnormal nasal cartilage morphology ( J:181229 )

• enlarged nasal cartilages following doxycycline treatment at E12.5 or E10.5

growth/size/body

absent nasal bone ( J:181229 )

• following doxycycline treatment at E12.5 in some mice

small nasal bone ( J:181229 )

• following doxycycline treatment at E10.5, E12.5, or E13.5

short face ( J:181229 )

• shortened face following doxycycline treatment at E10.5

cleft palate ( J:181229 )

• following doxycycline treatment at E12.5

abnormal nasal cartilage morphology ( J:181229 )

• enlarged nasal cartilages following doxycycline treatment at E12.5 or E10.5

round head ( J:181229 )

• following doxycycline treatment at E10.5 the overall shape of the head is more rounded

Genotype
MGI:3652904

cn195

• Allelic Composition: Gja1^tm1Gfi/Gja1^tm1Gfi; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J * FVB/N

cardiovascular system

abnormal ascending aorta and coronary artery attachment ( J:108525 )

• 3 of 5 mutants exhibit coronary abnormalities that include separate ostia for right septal and myocardial coronary tributaries, accessory coronary artery originating from the non-coronary sinus, or tunneling of the left coronary artery through the wall of the aorta, however do not exhibit outflow tract defects

Genotype
MGI:5659952

cn196

• Allelic Composition: Map2k1^tm1Chrn/Map2k1^tm1Chrn; Map2k2^tm1Chrn/Map2k2^tm1Chrn; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J * SJL

craniofacial

mandible hypoplasia ( J:144862 )

• at E17.5

short maxilla ( J:144862 )

• at E17.5

absent tongue ( J:144862 )

abnormal outer ear morphology ( J:144862 )

cardiovascular system

persistent truncus arteriosus ( J:144862 )

• at E16.5 and E17.5

hearing/vestibular/ear

abnormal outer ear morphology ( J:144862 )

growth/size/body

absent tongue ( J:144862 )

abnormal outer ear morphology ( J:144862 )

digestive/alimentary system

absent tongue ( J:144862 )

skeleton

mandible hypoplasia ( J:144862 )

• at E17.5

short maxilla ( J:144862 )

• at E17.5

vision/eye

abnormal eye distance/ position ( J:144862 )

Genotype
MGI:3620540

cn197

• Allelic Composition: Rarb^tm2Ipc/Rarb^tm2Ipc; Rarg^tm3Ipc/Rarg^tm3Ipc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

cellular

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 no apoptosis is seen in dorsal and ventral cluster of cells in the periocular mesenchyme where apoptosis is seen in wild-type mice

vision/eye

abnormal conjunctival sac morphology ( J:102847 )

• a small, abnormal conjuctival sac is present at E14.5

ventral rotation of lens ( J:102847 )

• severe ventral rotation of the lens

abnormal eye development ( J:102847 )

• at E14.5, a thick layer of mesenchyme replaces the eyelids and cornea and a small, abnormal conjuctival sac is present

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 no apoptosis is seen in dorsal and ventral cluster of cells in the periocular mesenchyme where apoptosis is seen in wild-type mice

persistent hyperplastic primary vitreous ( J:102847 )

• retrolenticular membrane resulting from the persistence and hyperplasia of the primary vitreous body

decreased ventral retina size ( J:102847 )

• severe shortening of the ventral retina

embryo

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 no apoptosis is seen in dorsal and ventral cluster of cells in the periocular mesenchyme where apoptosis is seen in wild-type mice

growth/size/body

decreased periocular mesenchyme apoptosis ( J:102847 )

• at E10.5 and E11.5 no apoptosis is seen in dorsal and ventral cluster of cells in the periocular mesenchyme where apoptosis is seen in wild-type mice

Genotype
MGI:5318530

cn198

• Allelic Composition: Notch1^tm2Rko/Notch1^tm2Rko; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:181120 )

• mutant mice are not viable and die at birth

craniofacial

craniofacial phenotype ( J:181120 )

N • normal palate formation

Genotype
MGI:3773283

cn199

• Allelic Composition: Ctnnb1^tm1Mmt/Ctnnb1^tm1Mmt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

muscle

abnormal muscle development ( J:124278 )

• cranial muscle patterning and differentiation are abnormal as determined by marker expression

Genotype
MGI:4943276

cn200

• Allelic Composition: Fgfr2^tm1Dor/Fgfr2^tm1Dor; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

vision/eye

vision/eye phenotype ( J:130571 )

N • lacrimal gland development is normal

Genotype
MGI:4843923

cn201

• Allelic Composition: Smo^tm2Amc/Smo^tm2.1Amc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

cardiovascular system

abnormal artery morphology ( J:135134 )

• at E10.5 and E18.5, mice exhibit arch-artery defects compared with wild-type mice

pulmonary artery hypoplasia ( J:135134 )

• in 4 of 23 mice

abnormal cardiac outflow tract development ( J:135134 )

• mice exhibit partial septation of the outflow tract unlike wild-type mice

persistent truncus arteriosus ( J:135134 )

• in 17 of 23 mice

transposition of great arteries ( J:135134 )

• 2 of 23 mice exhibit complete separation of a transposed aorta and hypoplastic pulmonary artery unlike in wild-type mice

embryo

abnormal neural crest cell apoptosis ( J:135134 )

• mice exhibit cell death in neural crest cells unlike in wild-type mice

cellular

abnormal neural crest cell apoptosis ( J:135134 )

• mice exhibit cell death in neural crest cells unlike in wild-type mice

Genotype
MGI:4843925

cn202

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:135134 )

• half of mice die at E11.5

embryo

increased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells is increased in the cardiac jelly compared to in wild-type mice

cardiovascular system

increased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells is increased in the cardiac jelly compared to in wild-type mice

abnormal cardiac outflow tract development ( J:135134 )

• at E11.5, surviving mice exhibit a lack of cushions in the distal outflow tract while more proximal outflow tract cushions are closer to each other unlike in wild-type mice

persistent truncus arteriosus ( J:135134 )

• at E15.5

nervous system

increased cardiac neural crest cell number ( J:135134 )

• the number of cardiac neural crest cells is increased in the cardiac jelly compared to in wild-type mice

Genotype
MGI:3716199

cn203

• Allelic Composition: Gt(ROSA)26Sor^{tm1(Smo/EYFP)Amc}/?; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

growth/size/body

abnormal head development ( J:89445 )

• most of the head skeleton fails to form

abnormal face development ( J:89445 )

• at E10.5, facial processes are mildly hyperplastic

• at E12.5, gross organization of the face is disrupted

craniofacial

abnormal face development ( J:89445 )

• at E10.5, facial processes are mildly hyperplastic

• at E12.5, gross organization of the face is disrupted

Genotype
MGI:5515738

cn204

• Allelic Composition: Hmx1^tm1.1Arte/Hmx1^tm1.1Arte; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: BALB/c * C57BL/6J * CBA/J

nervous system

abnormal neuron differentiation ( J:198834 )

• at E15, mice exhibit impaired consolidation of sympathetic noradrenergic fate, as determined by marker expression

abnormal innervation ( J:198834 )

• arrector pili muscle and cutaneous blood vessel innervation by noradrenergic fibers is reduced at P19

cellular

abnormal neuron differentiation ( J:198834 )

• at E15, mice exhibit impaired consolidation of sympathetic noradrenergic fate, as determined by marker expression

Genotype
MGI:7346377

cn205

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Srsf3^tm1Pjln/Srsf3^tm1Pjln
• Genetic Background: involves: BALB/c * C57BL/6J * CBA/J

mortality/aging

lethality throughout fetal growth and development ( J:308882 )

• die between E12.5 and P0

prenatal lethality, complete penetrance ( J:308882 )

• no live pups at birth

craniofacial

Meckel's cartilage hypoplasia ( J:308882 )

• at E18.5

abnormal neurocranium morphology ( J:308882 )

abnormal styloid process morphology ( J:308882 )

• absence of the processus styloidus cartilage at E18.5

absent frontal bone ( J:308882 )

• at E18.5

interparietal bone hypoplasia ( J:308882 )

• hypoplastic and clefted at E18.5

small supraoccipital bone ( J:308882 )

• hypoplastic and clefted at E18.5

parietal bone hypoplasia ( J:308882 )

• at E18.5

pterygoid bone hypoplasia ( J:308882 )

• at E18.5

abnormal retrotympanic process morphology ( J:308882 )

• hypoplastic at E18.5

abnormal temporal bone zygomatic process morphology ( J:308882 )

• hypoplasia of the zygomatic process of the squamosal bone

temporal bone hypoplasia ( J:308882 )

• at E18.5

abnormal hyoid bone morphology ( J:308882 )

• not ossified in 2 and hypoplastic in the third of three mice that survived to E18.5

abnormal hyoid bone greater horn morphology ( J:308882 )

• hypoplastic at E18.5

abnormal hyoid bone lesser horn morphology ( J:308882 )

• hypoplastic at E18.5

mandibular coronoid process hypoplasia ( J:308882 )

• at E18.5

abnormal maxillary frontal process morphology ( J:308882 )

• hypoplastic at E18.5

maxillary zygomatic process hypoplasia ( J:308882 )

• hypoplastic at E18.5

facial bone hypoplasia ( J:308882 )

• at E18.5 facial bones and cartilages tend to be hypoplastic in the 3 surviving mice

• elements in the middle of the face are more severely affected

basisphenoid bone hypoplasia ( J:308882 )

• at E18.5

mandible hypoplasia ( J:308882 )

• at E18.5 hypoplastic with clefting in one

premaxilla hypoplasia ( J:308882 )

• at E18.5 hypoplasia of the premaxilla and frontal process of the premaxilla

maxilla hypoplasia ( J:308882 )

• at E18.5

zygomatic bone hypoplasia ( J:308882 )

• at E18.5

abnormal nasal pit morphology ( J:308882 )

• widening of the space between the nasal pits at E10.5

abnormal facial morphology ( J:308882 )

• facial subepidermal blebbing at E14.5 and facial hemorrhaging at E10.5 in some embryos

absent nasal bone ( J:308882 )

• at E18.5

abnormal palate bone morphology ( J:308882 )

• absence of the palatal process of the palatine, palatine, ala temporalis, lamina obturans and ectotympanic bones

absent maxillary shelf ( J:308882 )

• in 2 of 3 surviving mice at E18.5

absent palatine bone horizontal plate ( J:308882 )

• at E18.5

palatal shelf hypoplasia ( J:308882 )

• at E12.5

abnormal face development ( J:308882 )

• hypoplastic facial processes at E10.5

tongue hypoplasia ( J:308882 )

• at E12.5 and at E14.5

facial cleft ( J:308882 )

• at E12.5 the medial nasal process fail to fuse at the midline

• clefting is more pronounced at E14.5 with a striking cleft at the midline of the upper jaw and subtler cleft in the mandible

• at E18.5 the anterior part of the face is cleft in 3 surviving embryos

hearing/vestibular/ear

absent tympanic ring ( J:308882 )

• at E18.5

nervous system

wavy neural tube ( J:308882 )

• at E11.5 in 19% of embryos

decreased midbrain size ( J:308882 )

• at E10.5

midbrain hypoplasia ( J:308882 )

• at E12.5

abnormal forebrain morphology ( J:308882 )

• misshapen at E12.5

increased forebrain size ( J:308882 )

• at E10.5 and E14.5

enlarged lateral ventricles ( J:308882 )

• at E12.5

exencephaly ( J:308882 )

• at E14.5

cardiovascular system

internal hemorrhage ( J:308882 )

• facial hemorrhaging in a third of embryos at E10.5

digestive/alimentary system

abnormal palate bone morphology ( J:308882 )

• absence of the palatal process of the palatine, palatine, ala temporalis, lamina obturans and ectotympanic bones

absent maxillary shelf ( J:308882 )

• in 2 of 3 surviving mice at E18.5

absent palatine bone horizontal plate ( J:308882 )

• at E18.5

palatal shelf hypoplasia ( J:308882 )

• at E12.5

tongue hypoplasia ( J:308882 )

• at E12.5 and at E14.5

embryo

wavy neural tube ( J:308882 )

• at E11.5 in 19% of embryos

respiratory system

absent nasal bone ( J:308882 )

• at E18.5

abnormal nasal pit morphology ( J:308882 )

• widening of the space between the nasal pits at E10.5

cricoid cartilage hypoplasia ( J:308882 )

• at E18.5

thyroid cartilage hypoplasia ( J:308882 )

• at E18.5

abnormal tracheal cartilage morphology ( J:308882 )

• misshapen and occasionally fused at E18.5

skeleton

abnormal neurocranium morphology ( J:308882 )

abnormal styloid process morphology ( J:308882 )

• absence of the processus styloidus cartilage at E18.5

absent frontal bone ( J:308882 )

• at E18.5

interparietal bone hypoplasia ( J:308882 )

• hypoplastic and clefted at E18.5

small supraoccipital bone ( J:308882 )

• hypoplastic and clefted at E18.5

parietal bone hypoplasia ( J:308882 )

• at E18.5

pterygoid bone hypoplasia ( J:308882 )

• at E18.5

abnormal retrotympanic process morphology ( J:308882 )

• hypoplastic at E18.5

abnormal temporal bone zygomatic process morphology ( J:308882 )

• hypoplasia of the zygomatic process of the squamosal bone

temporal bone hypoplasia ( J:308882 )

• at E18.5

abnormal hyoid bone morphology ( J:308882 )

• not ossified in 2 and hypoplastic in the third of three mice that survived to E18.5

abnormal hyoid bone greater horn morphology ( J:308882 )

• hypoplastic at E18.5

abnormal hyoid bone lesser horn morphology ( J:308882 )

• hypoplastic at E18.5

mandibular coronoid process hypoplasia ( J:308882 )

• at E18.5

abnormal maxillary frontal process morphology ( J:308882 )

• hypoplastic at E18.5

maxillary zygomatic process hypoplasia ( J:308882 )

• hypoplastic at E18.5

absent nasal bone ( J:308882 )

• at E18.5

facial bone hypoplasia ( J:308882 )

• at E18.5 facial bones and cartilages tend to be hypoplastic in the 3 surviving mice

• elements in the middle of the face are more severely affected

basisphenoid bone hypoplasia ( J:308882 )

• at E18.5

mandible hypoplasia ( J:308882 )

• at E18.5 hypoplastic with clefting in one

premaxilla hypoplasia ( J:308882 )

• at E18.5 hypoplasia of the premaxilla and frontal process of the premaxilla

maxilla hypoplasia ( J:308882 )

• at E18.5

zygomatic bone hypoplasia ( J:308882 )

• at E18.5

abnormal palate bone morphology ( J:308882 )

• absence of the palatal process of the palatine, palatine, ala temporalis, lamina obturans and ectotympanic bones

absent maxillary shelf ( J:308882 )

• in 2 of 3 surviving mice at E18.5

absent palatine bone horizontal plate ( J:308882 )

• at E18.5

abnormal cartilage morphology ( J:308882 )

• hypoplasia of the middle ear cartilages at E18.5

Meckel's cartilage hypoplasia ( J:308882 )

• at E18.5

cricoid cartilage hypoplasia ( J:308882 )

• at E18.5

thyroid cartilage hypoplasia ( J:308882 )

• at E18.5

abnormal tracheal cartilage morphology ( J:308882 )

• misshapen and occasionally fused at E18.5

growth/size/body

abnormal facial morphology ( J:308882 )

• facial subepidermal blebbing at E14.5 and facial hemorrhaging at E10.5 in some embryos

absent nasal bone ( J:308882 )

• at E18.5

abnormal palate bone morphology ( J:308882 )

• absence of the palatal process of the palatine, palatine, ala temporalis, lamina obturans and ectotympanic bones

absent maxillary shelf ( J:308882 )

• in 2 of 3 surviving mice at E18.5

absent palatine bone horizontal plate ( J:308882 )

• at E18.5

palatal shelf hypoplasia ( J:308882 )

• at E12.5

abnormal face development ( J:308882 )

• hypoplastic facial processes at E10.5

tongue hypoplasia ( J:308882 )

• at E12.5 and at E14.5

facial cleft ( J:308882 )

• at E12.5 the medial nasal process fail to fuse at the midline

• clefting is more pronounced at E14.5 with a striking cleft at the midline of the upper jaw and subtler cleft in the mandible

• at E18.5 the anterior part of the face is cleft in 3 surviving embryos

microcephaly ( J:308882 )

• in 3 mice surviving to E18.5

Genotype
MGI:3851922

cn206

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(CAG-Otx2,-EGFP)1Eno/?
• Genetic Background: involves: C3H * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:150709 )

• some mice die within 4-6 hours after birth from brain hemorrhaging

cardiovascular system

intracranial hemorrhage ( J:150709 )

• some mice die within 4-6 hours after birth from brain hemorrhaging

• hemorrhaging results from ossification defects in the skull

craniofacial

frontal bone foramen ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

nervous system

intracranial hemorrhage ( J:150709 )

• some mice die within 4-6 hours after birth from brain hemorrhaging

• hemorrhaging results from ossification defects in the skull

skeleton

frontal bone foramen ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

failure of intramembranous bone ossification ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone and incomplete skull closure

Genotype
MGI:3851921

cn207

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(CAG-Lhx,-EGFP)1Eno/?
• Genetic Background: involves: C3H * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:150709 )

• some mice die within 4-6 hours after birth from brain hemorrhaging

cardiovascular system

intracranial hemorrhage ( J:150709 )

• some mice die within 4-6 hours after birth from brain hemorrhaging

• hemorrhaging results from ossification defects in the skull

craniofacial

frontal bone foramen ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

nervous system

intracranial hemorrhage ( J:150709 )

• some mice die within 4-6 hours after birth from brain hemorrhaging

• hemorrhaging results from ossification defects in the skull

skeleton

frontal bone foramen ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

failure of intramembranous bone ossification ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone and incomplete skull closure

Genotype
MGI:4461313

cn208

• Allelic Composition: Hoxa3^tm2Nrm/Hoxa3^tm3.1Nrm; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C3H * C57BL/6 * CBA/J

endocrine/exocrine glands

ectopic parathyroid gland ( J:161296 )

• at E15.5, parathyroids are ectopically attached to the thymus unlike in wild-type mice

• however, parathyroid morphology is normal

ectopic thymus ( J:161296 )

• at E15.5, thymic lobes are absent from their normal position and are ectopically attached to the pharynx unlike in wild-type mice

• however, thymic lobe morphology is normal

immune system

ectopic thymus ( J:161296 )

• at E15.5, thymic lobes are absent from their normal position and are ectopically attached to the pharynx unlike in wild-type mice

• however, thymic lobe morphology is normal

hematopoietic system

ectopic thymus ( J:161296 )

• at E15.5, thymic lobes are absent from their normal position and are ectopically attached to the pharynx unlike in wild-type mice

• however, thymic lobe morphology is normal

Genotype
MGI:6450919

cn209

• Allelic Composition: Nubp2^{tm1c(EUCOMM)Hmgu}/Nubp2^{tm1c(EUCOMM)Hmgu}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: C57BL/6

craniofacial

small frontonasal prominence ( J:284772 )

• at E15.5

small mandibular prominence ( J:284772 )

• at E15.5

small maxillary prominence ( J:284772 )

• at E15.5

absent nasal capsule ( J:284772 )

abnormal face development ( J:284772 )

• undersized facial primordia at E10.5

nasal septum cartilage hypoplasia ( J:284772 )

• severe

abnormal olfactory epithelium morphology ( J:284772 )

• olfactory epithelium is continuous with the oral cavity

midline facial cleft ( J:284772 )

• at E15.5

growth/size/body

absent nasal capsule ( J:284772 )

abnormal face development ( J:284772 )

• undersized facial primordia at E10.5

nasal septum cartilage hypoplasia ( J:284772 )

• severe

abnormal olfactory epithelium morphology ( J:284772 )

• olfactory epithelium is continuous with the oral cavity

midline facial cleft ( J:284772 )

• at E15.5

abnormal head mesenchyme morphology ( J:284772 )

• craniofacial mesenchyme exhibit a slight increase in average cilia per cell compared with control mice

• however, there is no difference in centriole number

embryo

abnormal head mesenchyme morphology ( J:284772 )

• craniofacial mesenchyme exhibit a slight increase in average cilia per cell compared with control mice

• however, there is no difference in centriole number

digestive/alimentary system

abnormal stomodeum morphology ( J:284772 )

• olfactory epithelium is continuous with the oral cavity

nervous system

abnormal brain morphology ( J:284772 )

• brain is shifted rostrally

respiratory system

absent nasal capsule ( J:284772 )

nasal septum cartilage hypoplasia ( J:284772 )

• severe

abnormal olfactory epithelium morphology ( J:284772 )

• olfactory epithelium is continuous with the oral cavity

skeleton

absent nasal capsule ( J:284772 )

nasal septum cartilage hypoplasia ( J:284772 )

• severe

taste/olfaction

abnormal olfactory epithelium morphology ( J:284772 )

• olfactory epithelium is continuous with the oral cavity

Genotype
MGI:3715096

cn210

• Allelic Composition: Pdgfra^tm8Sor/Pdgfra^tm8Sor; Pdgfrb^tm1Mdt/Pdgfrb^tm1Mdt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

perinatal lethality, complete penetrance ( J:122584 )

• 100% of mice die after birth

cardiovascular system

retroesophageal right subclavian artery ( J:122584 )

• in 100% of mice

persistent truncus arteriosus ( J:122584 )

• in 100% of mice

ventricular septal defect ( J:122584 )

• in 100% of mice

hematopoietic system

abnormal thymus development ( J:122584 )

• thymus development is aberrant

thymus hypoplasia ( J:122584 )

• thymus development is aberrant

craniofacial

cleft palate ( J:122584 )

• at birth

homeostasis/metabolism

cyanosis ( J:122584 )

• at birth

immune system

abnormal thymus development ( J:122584 )

• thymus development is aberrant

thymus hypoplasia ( J:122584 )

• thymus development is aberrant

digestive/alimentary system

cleft palate ( J:122584 )

• at birth

embryo

abnormal cardiac neural crest cell migration ( J:122584 )

• neural crest cell (NCC) migration defects occur in the conotruncus region

• NCCs fail to migrate to the thymic epithelium

cellular

abnormal cardiac neural crest cell migration ( J:122584 )

• neural crest cell (NCC) migration defects occur in the conotruncus region

• NCCs fail to migrate to the thymic epithelium

endocrine/exocrine glands

abnormal thymus development ( J:122584 )

• thymus development is aberrant

thymus hypoplasia ( J:122584 )

• thymus development is aberrant

growth/size/body

cleft palate ( J:122584 )

• at birth

Genotype
MGI:3715094

cn211

• Allelic Composition: Pdgfra^tm8Sor/Pdgfra^tm8Sor; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6 * CBA

cardiovascular system

retroesophageal right subclavian artery ( J:122584 )

• in 50% of mice

persistent truncus arteriosus ( J:122584 )

• in 25% of mice

delayed heart development ( J:122584 )

• cardiac development is delayed

ventricular septal defect ( J:122584 )

• in 75% of mice

Genotype
MGI:3715095

cn212

• Allelic Composition: Pdgfrb^tm1Mdt/Pdgfrb^tm1Mdt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6 * CBA

cardiovascular system

perimembraneous ventricular septal defect ( J:122584 )

• 8 of 10 mice exhibit perimenbraneous ventricular septal defects

Genotype
MGI:7464191

cn213

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Memo1^{tm1c(EUCOMM)Wtsi}/Memo1^{tm1c(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6 * CBA/J * SJL

mortality/aging

preweaning lethality, complete penetrance ( J:233609 )

craniofacial

abnormal craniofacial bone morphology ( J:233609 )

wide coronal suture ( J:233609 )

wide metopic suture ( J:233609 )

small basisphenoid bone ( J:233609 )

• mild rostral truncation

presphenoid bone hypoplasia ( J:233609 )

• severely hypoplastic or fails to ossify

• this bone is most severely affected in the single mouse with a visible cleft palate

maxillary shelf hypoplasia ( J:233609 )

• not as severely affected as the palatine bone

premaxilla hypoplasia ( J:233609 )

palatine bone horizontal plate hypoplasia ( J:233609 )

domed cranium ( J:233609 )

cleft palate ( J:233609 )

• unlike in mice homozygous for Memo1^m1Will only a single pup ot of 10 showed a cleft palate

abnormal nasal bridge morphology ( J:233609 )

• slightly dipped

behavior/neurological

absent gastric milk in neonates ( J:233609 )

• despite absence of cleft palate in most pups

digestive/alimentary system

maxillary shelf hypoplasia ( J:233609 )

• not as severely affected as the palatine bone

palatine bone horizontal plate hypoplasia ( J:233609 )

cleft palate ( J:233609 )

• unlike in mice homozygous for Memo1^m1Will only a single pup ot of 10 showed a cleft palate

skeleton

abnormal craniofacial bone morphology ( J:233609 )

wide coronal suture ( J:233609 )

wide metopic suture ( J:233609 )

small basisphenoid bone ( J:233609 )

• mild rostral truncation

presphenoid bone hypoplasia ( J:233609 )

• severely hypoplastic or fails to ossify

• this bone is most severely affected in the single mouse with a visible cleft palate

maxillary shelf hypoplasia ( J:233609 )

• not as severely affected as the palatine bone

premaxilla hypoplasia ( J:233609 )

palatine bone horizontal plate hypoplasia ( J:233609 )

domed cranium ( J:233609 )

abnormal endochondral bone ossification ( J:233609 )

• hyoid fails to ossify

growth/size/body

maxillary shelf hypoplasia ( J:233609 )

• not as severely affected as the palatine bone

palatine bone horizontal plate hypoplasia ( J:233609 )

cleft palate ( J:233609 )

• unlike in mice homozygous for Memo1^m1Will only a single pup ot of 10 showed a cleft palate

abnormal nasal bridge morphology ( J:233609 )

• slightly dipped

respiratory system

abnormal nasal bridge morphology ( J:233609 )

• slightly dipped

Genotype
MGI:7333177

cn214

• Allelic Composition: Kdm6a^{tm1c(EUCOMM)Wtsi}/Kdm6a^{tm1c(EUCOMM)Wtsi}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA

craniofacial

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

embryo

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

digestive/alimentary system

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

nervous system

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

growth/size/body

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

Genotype
MGI:7333176

cn215

• Allelic Composition: Kdm6a^{tm1c(EUCOMM)Wtsi}/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA

craniofacial

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

embryo

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

digestive/alimentary system

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

nervous system

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

growth/size/body

cleft palate ( J:294895 )

• partially penetrant

cleft hard palate ( J:294895 )

• in some cases the palatine bone fails to fuse at the midline

Genotype
MGI:5558037

cn216

• Allelic Composition: Elp1^{tm1c(KOMP)Wtsi}/Elp1^{tm1c(KOMP)Wtsi}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA/J

Reduced numbers of sympathetic and dorsal root ganglia neurons in Elp1^{tm1c(KOMP)Wtsi}/Elp1^{tm1c(KOMP)Wtsi} H2az2^{Tg(Wnt1-cre)11Rth}/0 fetuses

mortality/aging

neonatal lethality, complete penetrance ( J:202989 )

• die within 24 h of birth

nervous system

abnormal neuron differentiation ( J:202989 )

• premature differentiation of TrkA progenitors during the second wave of neurogenesis

abnormal superior cervical ganglion morphology ( J:202989 )

• nearly a 70% decrease in the number of TH+ neurons in the superior cervical ganglion at E17.5

abnormal sensory neuron innervation pattern ( J:202989 )

• central projections of TrkA+ dorsal root ganglia neurons are considerably reduced in the dorsal horn of the spinal cord

• decrease in the prevalence of TrkA+ fibers in the skin at E17.5

• TH+ sympathetic terminals rarely innervate the parasympathetic cell bodies in the submandibular gland

decreased neuron number ( J:202989 )

• decrease in the total number and number of TrkA+ dorsal root ganglia neurons at E10.5 and E12.5 but not at E11.5

• nearly a 70% decrease in the number of TH+ neurons in the superior cervical ganglion at E17.5

• the total number of dorsal root ganglia neurons are reduced by 1/3 at E17.5

decreased sensory neuron number ( J:202989 )

• a 50% decrease in the number of pain- and temperature-receptive neurons at E17.5

increased neuron number ( J:202989 )

• slight but significant increase in the number of TrkC expressing neurons (mechanoreceptors) in the dorsal root ganglia

abnormal dorsal root ganglion morphology ( J:202989 )

• decrease in the total number of dorsal root ganglia neurons at E10.5

• the total number of dorsal root ganglia neurons are reduced by 1/3 at E17.5

• neurons transiently expressing TH (possible future thermal pain receptors) are virtually absent

• slight but significant increase in the number of TrkC expressing neurons (mechanoreceptors)

abnormal nervous system physiology ( J:202989 )

• substance P is virtually absent in the dorsal root ganglia

increased neuron apoptosis ( J:202989 )

• in the superior cervical ganglion and dorsal root ganglia at E17.5

• in the dorsal root ganglia at E12.5 and E17.5

craniofacial

mandibular retrognathia ( J:202989 )

• increased mandibular retroposition

abnormal facial morphology ( J:202989 )

• decreased inferior facial angle

growth/size/body

abnormal facial morphology ( J:202989 )

• decreased inferior facial angle

decreased fetal size ( J:202989 )

• at E18.5

digestive/alimentary system

abnormal submandibular gland morphology ( J:202989 )

• parasympathetic cell bodies are reduced by 31%

skeleton

mandibular retrognathia ( J:202989 )

• increased mandibular retroposition

cellular

increased neuron apoptosis ( J:202989 )

• in the superior cervical ganglion and dorsal root ganglia at E17.5

• in the dorsal root ganglia at E12.5 and E17.5

abnormal neuron differentiation ( J:202989 )

• premature differentiation of TrkA progenitors during the second wave of neurogenesis

endocrine/exocrine glands

abnormal submandibular gland morphology ( J:202989 )

• parasympathetic cell bodies are reduced by 31%

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Riley-Day syndrome		DOID:11589	OMIM:223900	J:202989

Genotype
MGI:7344053

cn217

• Allelic Composition: Med23^{tm1c(KOMP)Wtsi}/Med23^{tm1c(KOMP)Wtsi}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:304767 )

behavior/neurological

abnormal suckling behavior ( J:304767 )

• at P0, mice exhibit difficulty in feeding

respiratory system

abnormal nasal cartilage morphology ( J:304767 )

• at P0, nasal cartilage is hypoplastic or absent

nasal cartilage hypoplasia ( J:304767 )

respiratory distress ( J:304767 )

• at P0, mice exhibit difficulty in breathing

craniofacial

abnormal craniofacial morphology ( J:304767 )

• by E14.5, severe craniofacial defects, including micrognathia and glossoptosis, are observed

• however, embryos appear morphologically normal until E12.5

abnormal cranium morphology ( J:304767 )

• at P0, mice exhibit defects in bone development in the skull

abnormal Meckel's cartilage morphology ( J:304767 )

• at E12.5, Meckels cartilage development is delayed

• at E14.5, Meckels cartilage appears to be loosely organized/packed

• at E12.5 and E14.5, Sox9 is upregulated in Meckels cartilage as well as in the mesenchyme surrounding Meckels cartilage

Meckel's cartilage hypoplasia ( J:304767 )

• by E14.5, Meckels cartilage is severely hypoplastic

abnormal cranial cartilage development ( J:304767 )

• at P0, mice exhibit defects in cartilage development in the skull

frontal bone hypoplasia ( J:304767 )

• at P0, the frontal bone is underdeveloped

temporal bone hypoplasia ( J:304767 )

• at P0, the temporal bone is underdeveloped; otic bones are hypoplastic

small lower incisors ( J:304767 )

• lower incisors are markedly smaller at E17.5

abnormal tooth development ( J:304767 )

growth retardation of incisors ( J:304767 )

• at E17.5, upper incisors are developmentally delayed, having only reached the bell stage, whereas control upper incisors are transitioning from the late bell to eruption stage

• at P0, incisors are underdeveloped

growth retardation of molars ( J:304767 )

• upper and lower molars are developmentally delayed at the bud stage at E14.5 and early bell stage at E17.5

mandibular condyloid process hypoplasia ( J:304767 )

• at P0, the mandible and condylar cartilage are hypoplastic

absent mandibular symphysis ( J:304767 )

• at P0, the mandibular symphysis is absent

small mandible ( J:304767 )

• at E14.5 and P0, lower jaw is smaller than normal

mandible hypoplasia ( J:304767 )

• at P0, the mandible is still hypoplastic

micrognathia ( J:304767 )

• micrognathia is detected at E14.5 and becomes more severe at P0

absent palatine bone ( J:304767 )

• at E14.5, palatine bones are absent

abnormal frontonasal prominence morphology ( J:304767 )

• Sox9 RNA and protein are upregulated in the frontonasal prominence

abnormal palatal mesenchymal cell proliferation ( J:304767 )

• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5

abnormal secondary palate development ( J:304767 )

• at E12.5 and E14.5, Sox9 protein (an early marker of migratory NCCs and a master regulator of chondrogenesis) is ectopically expressed in the palatal shelves

• at E12.5, beta-catenin is downregulated in the palatal mesenchyme along with upregulated Sox9 expression and enhanced Sox9 binding to beta-catenin; Lef1 and Ccnd1 (downstream targets of beta-catenin) are also downregulated in the palatal shelves

• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5

• however, no changes in apoptosis are detected at E12.5 or E14.5

palatal shelves fail to meet at midline ( J:304767 )

• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic and unfused

• 72 hr after ex vivo roller culture, the palatal shelves develop rugae but remain separated and unfused, indicating that cleft palate is independent of tongue development or position

palatal shelf hypoplasia ( J:304767 )

• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic

• at E14.5, the volume of palatal shelves is significantly reduced

abnormal first pharyngeal arch morphology ( J:304767 )

• Sox9 RNA and protein are upregulated in the NCCs colonizing the first pharyngeal arch between E9.5 and E11.5

cleft palate ( J:304767 )

• at E14.5, palatal shelves remain separated by the tongue

failure of palatal shelf elevation ( J:304767 )

• by E17.5, the anterior palatal shelves have elevated above the tongue but still remain far apart

• in posterior sections, the palatal shelves grow vertically beside the tongue, fail to elevate and remain separated by the tongue

abnormal tongue morphology ( J:304767 )

• at E17.5, the tongue is misshapen

glossoptosis ( J:304767 )

• glossoptosis is detected at E14.5 and becomes more severe at P0

abnormal nasal cartilage morphology ( J:304767 )

• at P0, nasal cartilage is hypoplastic or absent

nasal cartilage hypoplasia ( J:304767 )

skeleton

abnormal cranium morphology ( J:304767 )

• at P0, mice exhibit defects in bone development in the skull

abnormal Meckel's cartilage morphology ( J:304767 )

• at E12.5, Meckels cartilage development is delayed

• at E14.5, Meckels cartilage appears to be loosely organized/packed

• at E12.5 and E14.5, Sox9 is upregulated in Meckels cartilage as well as in the mesenchyme surrounding Meckels cartilage

Meckel's cartilage hypoplasia ( J:304767 )

• by E14.5, Meckels cartilage is severely hypoplastic

abnormal cranial cartilage development ( J:304767 )

• at P0, mice exhibit defects in cartilage development in the skull

frontal bone hypoplasia ( J:304767 )

• at P0, the frontal bone is underdeveloped

temporal bone hypoplasia ( J:304767 )

• at P0, the temporal bone is underdeveloped; otic bones are hypoplastic

small lower incisors ( J:304767 )

• lower incisors are markedly smaller at E17.5

abnormal tooth development ( J:304767 )

growth retardation of incisors ( J:304767 )

• at E17.5, upper incisors are developmentally delayed, having only reached the bell stage, whereas control upper incisors are transitioning from the late bell to eruption stage

• at P0, incisors are underdeveloped

growth retardation of molars ( J:304767 )

• upper and lower molars are developmentally delayed at the bud stage at E14.5 and early bell stage at E17.5

mandibular condyloid process hypoplasia ( J:304767 )

• at P0, the mandible and condylar cartilage are hypoplastic

absent mandibular symphysis ( J:304767 )

• at P0, the mandibular symphysis is absent

small mandible ( J:304767 )

• at E14.5 and P0, lower jaw is smaller than normal

mandible hypoplasia ( J:304767 )

• at P0, the mandible is still hypoplastic

micrognathia ( J:304767 )

• micrognathia is detected at E14.5 and becomes more severe at P0

absent palatine bone ( J:304767 )

• at E14.5, palatine bones are absent

abnormal nasal cartilage morphology ( J:304767 )

• at P0, nasal cartilage is hypoplastic or absent

nasal cartilage hypoplasia ( J:304767 )

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:304767 )

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:304767 )

• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5

abnormal secondary palate development ( J:304767 )

• at E12.5 and E14.5, Sox9 protein (an early marker of migratory NCCs and a master regulator of chondrogenesis) is ectopically expressed in the palatal shelves

• at E12.5, beta-catenin is downregulated in the palatal mesenchyme along with upregulated Sox9 expression and enhanced Sox9 binding to beta-catenin; Lef1 and Ccnd1 (downstream targets of beta-catenin) are also downregulated in the palatal shelves

• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5

• however, no changes in apoptosis are detected at E12.5 or E14.5

palatal shelves fail to meet at midline ( J:304767 )

• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic and unfused

• 72 hr after ex vivo roller culture, the palatal shelves develop rugae but remain separated and unfused, indicating that cleft palate is independent of tongue development or position

palatal shelf hypoplasia ( J:304767 )

• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic

• at E14.5, the volume of palatal shelves is significantly reduced

cleft palate ( J:304767 )

• at E14.5, palatal shelves remain separated by the tongue

failure of palatal shelf elevation ( J:304767 )

• by E17.5, the anterior palatal shelves have elevated above the tongue but still remain far apart

• in posterior sections, the palatal shelves grow vertically beside the tongue, fail to elevate and remain separated by the tongue

abnormal tongue morphology ( J:304767 )

• at E17.5, the tongue is misshapen

glossoptosis ( J:304767 )

• glossoptosis is detected at E14.5 and becomes more severe at P0

growth/size/body

small lower incisors ( J:304767 )

• lower incisors are markedly smaller at E17.5

abnormal tooth development ( J:304767 )

growth retardation of incisors ( J:304767 )

• at E17.5, upper incisors are developmentally delayed, having only reached the bell stage, whereas control upper incisors are transitioning from the late bell to eruption stage

• at P0, incisors are underdeveloped

growth retardation of molars ( J:304767 )

• upper and lower molars are developmentally delayed at the bud stage at E14.5 and early bell stage at E17.5

abnormal palatal mesenchymal cell proliferation ( J:304767 )

• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5

abnormal secondary palate development ( J:304767 )

• at E12.5 and E14.5, Sox9 protein (an early marker of migratory NCCs and a master regulator of chondrogenesis) is ectopically expressed in the palatal shelves

• at E12.5, beta-catenin is downregulated in the palatal mesenchyme along with upregulated Sox9 expression and enhanced Sox9 binding to beta-catenin; Lef1 and Ccnd1 (downstream targets of beta-catenin) are also downregulated in the palatal shelves

• mesenchymal cell proliferation is significantly reduced in E12.5 palatal shelves, resulting in lower cell density and smaller palatal shelves with limited ability to grow and fuse by E14.5

• however, no changes in apoptosis are detected at E12.5 or E14.5

palatal shelves fail to meet at midline ( J:304767 )

• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic and unfused

• 72 hr after ex vivo roller culture, the palatal shelves develop rugae but remain separated and unfused, indicating that cleft palate is independent of tongue development or position

palatal shelf hypoplasia ( J:304767 )

• at E14.5 and E17.5, the anterior palatal shelves are hypoplastic

• at E14.5, the volume of palatal shelves is significantly reduced

cleft palate ( J:304767 )

• at E14.5, palatal shelves remain separated by the tongue

failure of palatal shelf elevation ( J:304767 )

• by E17.5, the anterior palatal shelves have elevated above the tongue but still remain far apart

• in posterior sections, the palatal shelves grow vertically beside the tongue, fail to elevate and remain separated by the tongue

abnormal tongue morphology ( J:304767 )

• at E17.5, the tongue is misshapen

glossoptosis ( J:304767 )

• glossoptosis is detected at E14.5 and becomes more severe at P0

abnormal nasal cartilage morphology ( J:304767 )

• at P0, nasal cartilage is hypoplastic or absent

nasal cartilage hypoplasia ( J:304767 )

embryo

embryo phenotype ( J:304767 )

N • neural crest cell migration is normal at E10.5

abnormal first pharyngeal arch morphology ( J:304767 )

• Sox9 RNA and protein are upregulated in the NCCs colonizing the first pharyngeal arch between E9.5 and E11.5

nervous system

nervous system phenotype ( J:304767 )

N • neural crest cell (NCC) differentiation into neurons of the peripheral nervous system is normal at E10.5

cellular

cellular phenotype ( J:304767 )

N • neural crest cell (NCC) migration and early neuronal differentiation is normal at E10.5

Genotype
MGI:6360913

cn218

• Allelic Composition: Vgll4^{tm1b(EUCOMM)Hmgu}/Vgll4^{tm1c(EUCOMM)Hmgu}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CBA/J * SJL

cardiovascular system

cardiovascular system phenotype ( J:273437 )

N • neonatal and adult mice exhibit normal valves

Genotype
MGI:7333171

cn219

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:294895 )

• die at birth

nervous system

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

craniofacial

abnormal neurocranium morphology ( J:294895 )

abnormal basisphenoid bone morphology ( J:294895 )

• abnormally shaped at birth

• significant reduction in chondrocyte hypertrophic differentiation and bone deposition in the anterior growth zone

• alterations in the ossification zone are not as severe as in the presphenoid bone

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• absence of presphenoid bone deposition at birth

• decrease in the length of the chondrocyte hypertrophic zones with a decrease in the amount of hypertrophic differentiation

small presphenoid bone ( J:294895 )

• reduced

abnormal pterygoid process morphology ( J:294895 )

• underdeveloped

abnormal temporal bone tympanic part morphology ( J:294895 )

• underdeveloped

abnormal viscerocranium morphology ( J:294895 )

short frontal bone ( J:294895 )

abnormal hyoid bone morphology ( J:294895 )

• absence of hyoid bone ossification

mandibular condyloid process hypoplasia ( J:294895 )

• condylar process is particularly underdeveloped with a lack of condylar cartilage

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

abnormal palatine bone morphology ( J:294895 )

• underdeveloped

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

face hypoplasia ( J:294895 )

• severe facial hypoplasia with shortened frontonasal structures

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

embryo

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

skeleton

abnormal neurocranium morphology ( J:294895 )

abnormal basisphenoid bone morphology ( J:294895 )

• abnormally shaped at birth

• significant reduction in chondrocyte hypertrophic differentiation and bone deposition in the anterior growth zone

• alterations in the ossification zone are not as severe as in the presphenoid bone

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• absence of presphenoid bone deposition at birth

• decrease in the length of the chondrocyte hypertrophic zones with a decrease in the amount of hypertrophic differentiation

small presphenoid bone ( J:294895 )

• reduced

abnormal pterygoid process morphology ( J:294895 )

• underdeveloped

abnormal temporal bone tympanic part morphology ( J:294895 )

• underdeveloped

abnormal viscerocranium morphology ( J:294895 )

short frontal bone ( J:294895 )

abnormal hyoid bone morphology ( J:294895 )

• absence of hyoid bone ossification

mandibular condyloid process hypoplasia ( J:294895 )

• condylar process is particularly underdeveloped with a lack of condylar cartilage

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

abnormal palatine bone morphology ( J:294895 )

• underdeveloped

abnormal osteoblast morphology ( J:294895 )

• at E13.5 in the supraorbital frontal primordia the osteoblast and pre-osteoblast domains are positioned more laterally compared to controls

abnormal chondrocyte morphology ( J:294895 )

• at E13.5 in the supraorbital frontal primordia the medial chondrocyte domain extends laterally

abnormal endochondral bone ossification ( J:294895 )

• absence of neural crest cell based endochondral ossification in the hyoid bone

• absence of presphenoid bone ossification at birth

• impaired ossification in the cranial base

growth/size/body

short nasal bone ( J:294895 )

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

face hypoplasia ( J:294895 )

• severe facial hypoplasia with shortened frontonasal structures

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

digestive/alimentary system

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

respiratory system

short nasal bone ( J:294895 )

Genotype
MGI:5613589

cn220

• Allelic Composition: Gt(ROSA)26Sor^{tm5(Wnt5a)Flng}/?; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

embryonic lethality ( J:208766 )

craniofacial

abnormal craniofacial morphology ( J:208766 )

• multiple craniofacial defects

Genotype
MGI:5784729

cn221

• Allelic Composition: Arid1a^tm1.1Mag/Arid1a⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

craniofacial

small temporal bone squamous part ( J:231470 )

• smaller squamosal bones

short premaxilla ( J:231470 )

abnormal palatine bone morphology ( J:231470 )

• the anterior palatine length is reduced

short snout ( J:231470 )

lowered ear position ( J:231470 )

growth/size/body

short snout ( J:231470 )

lowered ear position ( J:231470 )

abnormal body composition ( J:231470 )

• body mass is lower

• however, mice show similar intercanthal distance and molar width as wild-type mice, suggesting that craniofacial defects are not due to proportional body size differences

hearing/vestibular/ear

lowered ear position ( J:231470 )

skeleton

small temporal bone squamous part ( J:231470 )

• smaller squamosal bones

short premaxilla ( J:231470 )

abnormal palatine bone morphology ( J:231470 )

• the anterior palatine length is reduced

vision/eye

enophthalmos ( J:231470 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Coffin-Siris syndrome		DOID:1925	OMIM:PS135900	J:231470

Genotype
MGI:3716198

cn222

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

craniofacial

abnormal cranium morphology ( J:89445 )

abnormal sphenoid bone morphology ( J:89445 )

abnormal basisphenoid bone morphology ( J:89445 )

• rostral half is missing

small alisphenoid bone ( J:89445 )

• reduced

absent orbitosphenoid bone ( J:89445 )

• missing

absent presphenoid bone ( J:89445 )

absent pterygoid process ( J:89445 )

abnormal temporal bone morphology ( J:89445 )

absent styloid process ( J:89445 )

small temporal bone squamous part ( J:89445 )

• reduced

abnormal ethmoid bone morphology ( J:89445 )

• mesethmoid bone is missing

abnormal tooth morphology ( J:89445 )

• teeth are malformed and arrested

absent lower incisors ( J:89445 )

abnormal mandible morphology ( J:89445 )

• the dentate is reduced in length but the lamina is thicker

• at E9.5, there is an increase in apoptotic cells along the midline

• at E10.5, apoptotic cells are observed along the midline and laterally

• at E10.5, mandibles are 9% shorter than the wild-type and only undergoes a 1.5-fold along the dorsal-ventral axis compared to a 4-fold expansion in wild-type

• at E11.5, cell proliferation is decreased

abnormal mandibular condyloid process morphology ( J:89445 )

• mice have an extra condylar process

abnormal maxilla morphology ( J:89445 )

• premaxilla and maxilla retain their lateral-most parts only

absent lacrimal bone ( J:89445 )

• absent or appears as a tiny fragment

nasal bone hypoplasia ( J:89445 )

• nasal bone is hypoplastic

absent palatine bone ( J:89445 )

absent vomer bone ( J:89445 )

small zygomatic bone ( J:89445 )

• reduced

absent middle ear ossicles ( J:89445 )

absent incus ( J:89445 )

absent gonial bone ( J:89445 )

absent malleus ( J:89445 )

absent stapes ( J:89445 )

abnormal craniofacial development ( J:89445 )

Meckel's cartilage hypoplasia ( J:89445 )

• hypoplastic and short

short Meckel's cartilage ( J:89445 )

absent Reichert cartilage ( J:89445 )

• the basi- cerato- and thyro hyoid elements are missing

absent tongue ( J:89445 )

nasal septum hypoplasia ( J:89445 )

• the nasal septum is incomplete

hearing/vestibular/ear

absent middle ear ossicles ( J:89445 )

absent incus ( J:89445 )

absent gonial bone ( J:89445 )

absent malleus ( J:89445 )

absent stapes ( J:89445 )

absent tympanic ring ( J:89445 )

digestive/alimentary system

absent tongue ( J:89445 )

respiratory system

nasal bone hypoplasia ( J:89445 )

• nasal bone is hypoplastic

nasal septum hypoplasia ( J:89445 )

• the nasal septum is incomplete

abnormal thyroid cartilage morphology ( J:89445 )

skeleton

abnormal cranium morphology ( J:89445 )

Meckel's cartilage hypoplasia ( J:89445 )

• hypoplastic and short

short Meckel's cartilage ( J:89445 )

abnormal sphenoid bone morphology ( J:89445 )

abnormal basisphenoid bone morphology ( J:89445 )

• rostral half is missing

small alisphenoid bone ( J:89445 )

• reduced

absent orbitosphenoid bone ( J:89445 )

• missing

absent presphenoid bone ( J:89445 )

absent pterygoid process ( J:89445 )

abnormal temporal bone morphology ( J:89445 )

absent styloid process ( J:89445 )

small temporal bone squamous part ( J:89445 )

• reduced

abnormal ethmoid bone morphology ( J:89445 )

• mesethmoid bone is missing

abnormal tooth morphology ( J:89445 )

• teeth are malformed and arrested

absent lower incisors ( J:89445 )

abnormal mandible morphology ( J:89445 )

• the dentate is reduced in length but the lamina is thicker

• at E9.5, there is an increase in apoptotic cells along the midline

• at E10.5, apoptotic cells are observed along the midline and laterally

• at E10.5, mandibles are 9% shorter than the wild-type and only undergoes a 1.5-fold along the dorsal-ventral axis compared to a 4-fold expansion in wild-type

• at E11.5, cell proliferation is decreased

abnormal mandibular condyloid process morphology ( J:89445 )

• mice have an extra condylar process

abnormal maxilla morphology ( J:89445 )

• premaxilla and maxilla retain their lateral-most parts only

absent lacrimal bone ( J:89445 )

• absent or appears as a tiny fragment

nasal bone hypoplasia ( J:89445 )

• nasal bone is hypoplastic

absent palatine bone ( J:89445 )

absent vomer bone ( J:89445 )

small zygomatic bone ( J:89445 )

• reduced

absent middle ear ossicles ( J:89445 )

absent incus ( J:89445 )

absent gonial bone ( J:89445 )

absent malleus ( J:89445 )

absent stapes ( J:89445 )

absent Reichert cartilage ( J:89445 )

• the basi- cerato- and thyro hyoid elements are missing

abnormal thyroid cartilage morphology ( J:89445 )

vision/eye

absent orbitosphenoid bone ( J:89445 )

• missing

growth/size/body

abnormal tooth morphology ( J:89445 )

• teeth are malformed and arrested

absent lower incisors ( J:89445 )

nasal bone hypoplasia ( J:89445 )

• nasal bone is hypoplastic

absent tongue ( J:89445 )

nasal septum hypoplasia ( J:89445 )

• the nasal septum is incomplete

Genotype
MGI:7341388

cn223

• Allelic Composition: Gpr161^tm1.2Smuk/Gpr161^tm1.2Smuk; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

perinatal lethality, complete penetrance ( J:316181 )

• although fetuses survive to E18.5, no liveborn pups are recovered

growth/size/body

enlarged nasal bone ( J:316181 )

• significant increase in nasal bone volume at E17.5

palatal shelves fail to meet at midline ( J:316181 )

• hard palatal shelves are not fused along the midline

cleft hard palate ( J:316181 )

• mild cleft palate at E15.5 and E17.5

nasal septum hypoplasia ( J:316181 )

• underdeveloped nasal septum at E13.5 and E15.5

anotia ( J:316181 )

• ~98% of fetuses show anotia/microtia at E13.5- E18.5

small ears ( J:316181 )

• ~98% of fetuses show anotia/microtia at E13.5- E18.5

nervous system

increased neuronal precursor proliferation ( J:316181 )

• protrusive tectal defects are secondary to increased proliferation of midbrain neural progenitor cells

abnormal midbrain development ( J:316181 )

• at E13.5, cell proliferation is significantly increased in the ventricular zone of the midbrain, suggesting that protrusive tectal defects are secondary to increased proliferation of midbrain neural progenitor cells

• Gli1 expression is significantly increased in the dorsal midbrain at E13.5

• Shh signaling activity and upstream Wnt signaling activity are both increased in midbrain tissues at E13.5

enlarged fourth ventricle ( J:316181 )

• fourth ventricle is enlarged at E13.5

abnormal midbrain morphology ( J:316181 )

• midbrain protrusion is initially observed at E13.5 and at E15.5

increased midbrain size ( J:316181 )

• dorsal midbrain is enlarged by E15.5

• overall midbrain tissues are expanded

enlarged cerebral aqueduct ( J:316181 )

• mesencephalic vesicle is enlarged at E13.5

enlarged tectum ( J:316181 )

• tectum is extended at E13.5

• ~98% of fetuses exhibit protrusive tectal defects (tectal hypertrophy) at E13.5-E18.5

• protrusive tectal defects are partly due to increased midbrain neural progenitor cell proliferation

abnormal spinal cord morphology ( J:316181 )

• spinal edema at E15.5

encephalomeningocele ( J:316181 )

• brain herniation along with protruded meninges is detected in the mesencephalic ventricles at E17.5

• ~69% of fetuses exhibit encephalocele at E17.5-E18.5

craniofacial

abnormal craniofacial morphology ( J:316181 )

• severe orofacial defects at E13.5

abnormal craniofacial bone morphology ( J:316181 )

• cranial neural crest cell (CNCC)-derived craniofacial bone formation is impaired

• significant loss of mineralized skull and facial bones at E17.5

• however, overall head size and formation of palatine, interparietal and occipital bones are unaffected

absent frontal bone ( J:316181 )

• frontal bones even fail to form

small frontal bone ( J:316181 )

• significant reduction in frontal bone volume at E17.5

small parietal bone ( J:316181 )

• significant reduction in parietal bone segments and volume at E17.5

abnormal mandible morphology ( J:316181 )

• widened mandible at E17.5

small mandible ( J:316181 )

• significant reduction in mandibular bone volume at E17.5

mandible hypoplasia ( J:316181 )

• underdeveloped mandible at E13.5 and E15.5

abnormal maxilla morphology ( J:316181 )

• irregular shapes of maxillary bone at E13.5 and E15.5, with widened maxilla at E17.5

small premaxilla ( J:316181 )

• significant reduction in premaxilla volume at E17.5

small maxilla ( J:316181 )

• significant reduction in maxillary bone volume at E17.5

short maxilla ( J:316181 )

• shortened maxillary bone at E13.5 and E15.5

enlarged nasal bone ( J:316181 )

• significant increase in nasal bone volume at E17.5

abnormal craniofacial development ( J:316181 )

palatal shelves fail to meet at midline ( J:316181 )

• hard palatal shelves are not fused along the midline

cleft hard palate ( J:316181 )

• mild cleft palate at E15.5 and E17.5

nasal septum hypoplasia ( J:316181 )

• underdeveloped nasal septum at E13.5 and E15.5

anotia ( J:316181 )

• ~98% of fetuses show anotia/microtia at E13.5- E18.5

small ears ( J:316181 )

• ~98% of fetuses show anotia/microtia at E13.5- E18.5

skeleton

abnormal craniofacial bone morphology ( J:316181 )

• cranial neural crest cell (CNCC)-derived craniofacial bone formation is impaired

• significant loss of mineralized skull and facial bones at E17.5

• however, overall head size and formation of palatine, interparietal and occipital bones are unaffected

absent frontal bone ( J:316181 )

• frontal bones even fail to form

small frontal bone ( J:316181 )

• significant reduction in frontal bone volume at E17.5

small parietal bone ( J:316181 )

• significant reduction in parietal bone segments and volume at E17.5

abnormal mandible morphology ( J:316181 )

• widened mandible at E17.5

small mandible ( J:316181 )

• significant reduction in mandibular bone volume at E17.5

mandible hypoplasia ( J:316181 )

• underdeveloped mandible at E13.5 and E15.5

abnormal maxilla morphology ( J:316181 )

• irregular shapes of maxillary bone at E13.5 and E15.5, with widened maxilla at E17.5

small premaxilla ( J:316181 )

• significant reduction in premaxilla volume at E17.5

small maxilla ( J:316181 )

• significant reduction in maxillary bone volume at E17.5

short maxilla ( J:316181 )

• shortened maxillary bone at E13.5 and E15.5

enlarged nasal bone ( J:316181 )

• significant increase in nasal bone volume at E17.5

abnormal intramembranous bone ossification ( J:316181 )

• severe defects in intramembranous bone formation, involving cranial vault and facial bones

vision/eye

microphthalmia ( J:316181 )

• ~98% of fetuses show anophthalmia/microphthalmia at E13.5- E18.5

anophthalmia ( J:316181 )

• ~98% of fetuses show anophthalmia/microphthalmia at E13.5- E18.5

hearing/vestibular/ear

anotia ( J:316181 )

• ~98% of fetuses show anotia/microtia at E13.5- E18.5

small ears ( J:316181 )

• ~98% of fetuses show anotia/microtia at E13.5- E18.5

digestive/alimentary system

palatal shelves fail to meet at midline ( J:316181 )

• hard palatal shelves are not fused along the midline

cleft hard palate ( J:316181 )

• mild cleft palate at E15.5 and E17.5

cellular

increased neuronal precursor proliferation ( J:316181 )

• protrusive tectal defects are secondary to increased proliferation of midbrain neural progenitor cells

respiratory system

enlarged nasal bone ( J:316181 )

• significant increase in nasal bone volume at E17.5

nasal septum hypoplasia ( J:316181 )

• underdeveloped nasal septum at E13.5 and E15.5

Genotype
MGI:5514176

cn224

• Allelic Composition: Map3k7^tm1Mis/Map3k7^tm1Mis; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

Mandibular hypoplasia and cleft palate in Map3k7^tm1Mis/Map3k7^tm1MisH2az2^{Tg(Wnt1-cre)11Rth}/0 mice

mortality/aging

neonatal lethality, complete penetrance ( J:198588 )

craniofacial

abnormal craniofacial morphology ( J:198588 )

• generally stunted

decreased cranium height ( J:198588 )

short mandible ( J:198588 )

short maxilla ( J:198588 )

abnormal secondary palate development ( J:198588 )

• at E18, the secondary palate fails to form

• delayed rugal formation in vivo

palatal shelf hypoplasia ( J:198588 )

• at E13.5 without a defect in proliferation

cleft secondary palate ( J:198588 )

• in 13 of 16 mice

failure of palatal shelf elevation ( J:198588 )

• at E14.5, the tongue remains interposed between palatal shelves with failure of elevation

• however, palatal shelf elevation occurs in cultured mouse embryonic heads

skeleton

decreased cranium height ( J:198588 )

short mandible ( J:198588 )

short maxilla ( J:198588 )

digestive/alimentary system

abnormal secondary palate development ( J:198588 )

• at E18, the secondary palate fails to form

• delayed rugal formation in vivo

palatal shelf hypoplasia ( J:198588 )

• at E13.5 without a defect in proliferation

cleft secondary palate ( J:198588 )

• in 13 of 16 mice

failure of palatal shelf elevation ( J:198588 )

• at E14.5, the tongue remains interposed between palatal shelves with failure of elevation

• however, palatal shelf elevation occurs in cultured mouse embryonic heads

growth/size/body

abnormal secondary palate development ( J:198588 )

• at E18, the secondary palate fails to form

• delayed rugal formation in vivo

palatal shelf hypoplasia ( J:198588 )

• at E13.5 without a defect in proliferation

cleft secondary palate ( J:198588 )

• in 13 of 16 mice

failure of palatal shelf elevation ( J:198588 )

• at E14.5, the tongue remains interposed between palatal shelves with failure of elevation

• however, palatal shelf elevation occurs in cultured mouse embryonic heads

Genotype
MGI:5495316

cn225

• Allelic Composition: Gt(ROSA)26Sor^{tm4(EWSR1/ATF1)Mrc}/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

embryonic lethality, complete penetrance ( J:194308 )

Genotype
MGI:7338918

cn226

• Allelic Composition: Setdb1^tm1.1Yshk/Setdb1^tm1.1Yshk; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:321816 )

• mice die shortly after birth due to cleft palate defect

craniofacial

abnormal tooth development ( J:321816 )

• hypoplasia of the teeth at E14.5 and E15.5

abnormal palatal mesenchymal cell proliferation ( J:321816 )

• reduced proliferation of palatal mesenchymal cells at E14.5 as determined by BrdU staining, with no significant change in palatal mesenchymal cell apoptosis

abnormal secondary palate development ( J:321816 )

• decreased mRNA expression of Bmp4, Fgf10 and Pax9 in both the anterior and posterior parts of the palatal shelf at E13.5, with reduction of Wnt5a mRNA expression in the anterior part and of Bmpr1a expression in the posterior part of the palatal shelf

• loss of phospho-SMAD1/5/9 expression in the palatal mesenchyme at E13.5

cleft secondary palate ( J:321816 )

• cleft palate with full penetrance

delayed palatal shelf elevation ( J:321816 )

• delayed palatal shelf elevation at E14.5 and E15.5

tongue hypoplasia ( J:321816 )

• at E14.5 and E15.5

growth/size/body

abnormal tooth development ( J:321816 )

• hypoplasia of the teeth at E14.5 and E15.5

abnormal palatal mesenchymal cell proliferation ( J:321816 )

• reduced proliferation of palatal mesenchymal cells at E14.5 as determined by BrdU staining, with no significant change in palatal mesenchymal cell apoptosis

abnormal secondary palate development ( J:321816 )

• decreased mRNA expression of Bmp4, Fgf10 and Pax9 in both the anterior and posterior parts of the palatal shelf at E13.5, with reduction of Wnt5a mRNA expression in the anterior part and of Bmpr1a expression in the posterior part of the palatal shelf

• loss of phospho-SMAD1/5/9 expression in the palatal mesenchyme at E13.5

cleft secondary palate ( J:321816 )

• cleft palate with full penetrance

delayed palatal shelf elevation ( J:321816 )

• delayed palatal shelf elevation at E14.5 and E15.5

tongue hypoplasia ( J:321816 )

• at E14.5 and E15.5

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:321816 )

• reduced proliferation of palatal mesenchymal cells at E14.5 as determined by BrdU staining, with no significant change in palatal mesenchymal cell apoptosis

abnormal secondary palate development ( J:321816 )

• decreased mRNA expression of Bmp4, Fgf10 and Pax9 in both the anterior and posterior parts of the palatal shelf at E13.5, with reduction of Wnt5a mRNA expression in the anterior part and of Bmpr1a expression in the posterior part of the palatal shelf

• loss of phospho-SMAD1/5/9 expression in the palatal mesenchyme at E13.5

cleft secondary palate ( J:321816 )

• cleft palate with full penetrance

delayed palatal shelf elevation ( J:321816 )

• delayed palatal shelf elevation at E14.5 and E15.5

tongue hypoplasia ( J:321816 )

• at E14.5 and E15.5

skeleton

abnormal tooth development ( J:321816 )

• hypoplasia of the teeth at E14.5 and E15.5

Genotype
MGI:7543774

cn227

• Allelic Composition: Bicra^em3Hzhg/Bicra^em3Hzhg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

premature death ( J:335098 )

neonatal lethality, incomplete penetrance ( J:335098 )

cardiovascular system

abnormal heart morphology ( J:335098 )

• at P0

double outlet right ventricle ( J:335098 )

• at E15 and E16.5 without abnormal thickness of the ventricular wall and ventricular septum

ventricular septal defect ( J:335098 )

• at E15 and E16.5 without abnormal thickness of the ventricular wall and ventricular septum

decreased cardiac output ( J:335098 )

• lower right ventricular output

abnormal coronary circulation ( J:335098 )

• transventricular septal flow

decreased heart right ventricle muscle contractility ( J:335098 )

• reduced right ventricular output stroke volume and ejection fraction

growth/size/body

decreased body size ( J:335098 )

• at P7

muscle

decreased heart right ventricle muscle contractility ( J:335098 )

• reduced right ventricular output stroke volume and ejection fraction

Genotype
MGI:5476842

cn228

• Allelic Composition: Zic3^tm1.1Smwa/Y; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

normal phenotype

no abnormal phenotype detected ( J:194989 )

♂ • viable with no cardiac looping defects detected

Genotype
MGI:5444486

cn229

• Allelic Composition: Irx3^tm3Hui/Irx3^tm3Hui; Irx5^tm3Hui/Irx5^tm3Hui; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

cardiovascular system

cardiovascular system phenotype ( J:189007 )

N • no defects in heart morphology are detected

Genotype
MGI:5004977

cn230

• Allelic Composition: Rhoa^tm1Yuyo/Rhoa^tm1Yuyo; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

nervous system

abnormal neuron proliferation ( J:172044 )

• accelerated proliferation and decreased cell cycle exit in neural progenitor cells in the midbrain

abnormal brain morphology ( J:172044 )

abnormal midbrain development ( J:172044 )

• around E11.5 multiple nodules are detected protruding from the apical surface of the mesencephalon and this phenotype becomes more severe by E12.5

• the cellular organization in the ventricular zone of the mesencephalon becomes highly irregular by E12.5

• after E12.5 dysplasia is seen in all embryos and by E13.5 dysplasia expands throughout the mesencephalon

• expansion of neural progenitor cells in the developing mesencephalon

abnormal midbrain morphology ( J:172044 )

• protrusions consisting of neuronal mass originating from the midbrain are exposed dorsally and push into the forebrain ventrally

• expression analysis indicates disruption of adherens junctions at the ventricular surface at E12.5

increased midbrain size ( J:172044 )

• enlarged at E13.5

exencephaly ( J:172044 )

• display exencephaly-like protrusions at E15.5

increased neuronal precursor cell number ( J:172044 )

• expansion of neural progenitor cells in the developing mesencephalon

cellular

abnormal neuron proliferation ( J:172044 )

• accelerated proliferation and decreased cell cycle exit in neural progenitor cells in the midbrain

Genotype
MGI:3849287

cn231

• Allelic Composition: Ednra^tm2Ywa/Ednra^tm2Ywa; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

craniofacial

abnormal craniofacial morphology ( J:149166 )

• duplication of the ala temporalis cartilage is observed

abnormal craniofacial bone morphology ( J:149166 )

• at E18.5, mandible attaches to zygomatic bone by a duplicated zygomatic bone

• duplications of the palatine, pterygoid, and lamina obturans bones are present

absent Meckel's cartilage ( J:149166 )

• most of Meckel's cartilage is missing but symphysis is present surrounded by a small amount of membranous bone

abnormal incisor morphology ( J:149166 )

• incisor polarity is reversed in most embryos, with teeth projecting downward

abnormal mandible morphology ( J:149166 )

• at E18.5, lower jaw contains mystacial vibrissae, normally only present on snout

• lower incisors are present but primarily set in mesenchyme rather than bone;in severely affected embryos, incisors are present in the flaps of soft tissue that extend down from the maxilla

• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse

short mandible ( J:149166 )

• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla

abnormal incus morphology ( J:149166 )

• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone

absent incus ( J:149166 )

• 25% of inci examined are undetectable but small nodules of undefined cartilage are present

abnormal malleus morphology ( J:149166 )

• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type

absent malleus ( J:149166 )

• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present

abnormal stapes morphology ( J:149166 )

• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone

abnormal mouth floor morphology ( J:149166 )

• rugae (raised epithelial ridges) are present on the floor of the mouth, rather than being confined to the palate as in controls

tongue hypoplasia ( J:149166 )

• tongue hypoplasia is present

facial cleft ( J:149166 )

• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse

skeleton

abnormal craniofacial bone morphology ( J:149166 )

• at E18.5, mandible attaches to zygomatic bone by a duplicated zygomatic bone

• duplications of the palatine, pterygoid, and lamina obturans bones are present

absent Meckel's cartilage ( J:149166 )

• most of Meckel's cartilage is missing but symphysis is present surrounded by a small amount of membranous bone

abnormal incisor morphology ( J:149166 )

• incisor polarity is reversed in most embryos, with teeth projecting downward

abnormal mandible morphology ( J:149166 )

• at E18.5, lower jaw contains mystacial vibrissae, normally only present on snout

• lower incisors are present but primarily set in mesenchyme rather than bone;in severely affected embryos, incisors are present in the flaps of soft tissue that extend down from the maxilla

• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse

short mandible ( J:149166 )

• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla

abnormal incus morphology ( J:149166 )

• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone

absent incus ( J:149166 )

• 25% of inci examined are undetectable but small nodules of undefined cartilage are present

abnormal malleus morphology ( J:149166 )

• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type

absent malleus ( J:149166 )

• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present

abnormal stapes morphology ( J:149166 )

• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone

hearing/vestibular/ear

abnormal incus morphology ( J:149166 )

• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone

absent incus ( J:149166 )

• 25% of inci examined are undetectable but small nodules of undefined cartilage are present

abnormal malleus morphology ( J:149166 )

• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type

absent malleus ( J:149166 )

• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present

abnormal stapes morphology ( J:149166 )

• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone

digestive/alimentary system

tongue hypoplasia ( J:149166 )

• tongue hypoplasia is present

growth/size/body

abnormal incisor morphology ( J:149166 )

• incisor polarity is reversed in most embryos, with teeth projecting downward

abnormal mouth floor morphology ( J:149166 )

• rugae (raised epithelial ridges) are present on the floor of the mouth, rather than being confined to the palate as in controls

tongue hypoplasia ( J:149166 )

• tongue hypoplasia is present

facial cleft ( J:149166 )

• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse

Genotype
MGI:5784730

cn232

• Allelic Composition: Arid1a^tm1.1Mag/Arid1a^tm1.1Mag; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

cardiovascular system

abnormal blood vessel morphology ( J:231470 )

• patterning defects in the great vessels at E12.5

abnormal fourth pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have thin- or, to a lesser extent, non-patent PAA4 defects

abnormal sixth pharyngeal arch artery morphology ( J:231470 )

• E10.5 embryos show thin- or non-patent left and right pharyngeal arch artery (PAA6) defects

abnormal third pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have larger diameter PAA3 vessels

absent fetal ductus arteriosus ( J:231470 )

• E12.5 embryos fail to form a PAA6-derived ductus arteriosus

abnormal cardiac neural crest cell morphology ( J:231470 )

• neural crest cell cardiac lineage alterations are seen in E9.5 embryos

• migrating cardiac neural crest cells undergo apoptosis within the circumpharyngeal ridge

• E10.5 embryos show improper colonization of posterior cardiac neural crest cells

abnormal cardiac outflow tract development ( J:231470 )

• marker analysis show that neural crest cell colonization and patterning of the cardiac outflow tract are abnormal

persistent truncus arteriosus ( J:231470 )

abnormal aortic valve development ( J:231470 )

• misaligned or abnormally patterned aortic valves

abnormal pulmonary valve development ( J:231470 )

• misaligned or abnormally patterned pulmonary valves

abnormal interventricular septum morphology ( J:231470 )

• incomplete formation of ventricular septum

cellular

abnormal cardiac neural crest cell migration ( J:231470 )

• marker analysis indicates defects in early migrating cardiac neural crest cells

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have thin- or, to a lesser extent, non-patent PAA4 defects

abnormal sixth pharyngeal arch artery morphology ( J:231470 )

• E10.5 embryos show thin- or non-patent left and right pharyngeal arch artery (PAA6) defects

abnormal third pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have larger diameter PAA3 vessels

abnormal cranium morphology ( J:231470 )

• most of the bones that form the ventral cranial skeleton are greatly reduced in size

• head skeleton shows ventrolaterally positioned, dorsal cranial bones, including the frontal and parietal bones

abnormal neurocranium morphology ( J:231470 )

• embryos exhibit depressed cranial vaults

abnormal first pharyngeal arch morphology ( J:231470 )

• increase in apoptosis in the ventral half of mandibular region of pharyngeal arch 1

short snout ( J:231470 )

• in embryos

lowered ear position ( J:231470 )

• embryos exhibit low set ears

embryo

abnormal fourth pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have thin- or, to a lesser extent, non-patent PAA4 defects

abnormal sixth pharyngeal arch artery morphology ( J:231470 )

• E10.5 embryos show thin- or non-patent left and right pharyngeal arch artery (PAA6) defects

abnormal third pharyngeal arch artery morphology ( J:231470 )

• a subset of E10.5 embryos have larger diameter PAA3 vessels

abnormal cardiac neural crest cell morphology ( J:231470 )

• neural crest cell cardiac lineage alterations are seen in E9.5 embryos

• migrating cardiac neural crest cells undergo apoptosis within the circumpharyngeal ridge

• E10.5 embryos show improper colonization of posterior cardiac neural crest cells

abnormal cardiac neural crest cell migration ( J:231470 )

• marker analysis indicates defects in early migrating cardiac neural crest cells

abnormal first pharyngeal arch morphology ( J:231470 )

• increase in apoptosis in the ventral half of mandibular region of pharyngeal arch 1

growth/size/body

short snout ( J:231470 )

• in embryos

lowered ear position ( J:231470 )

• embryos exhibit low set ears

microcephaly ( J:231470 )

• small head size in embryos

hearing/vestibular/ear

lowered ear position ( J:231470 )

• embryos exhibit low set ears

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:231470 )

• fewer than the expected number of mutants are seen from E15 to P0

nervous system

abnormal cardiac neural crest cell morphology ( J:231470 )

• neural crest cell cardiac lineage alterations are seen in E9.5 embryos

• migrating cardiac neural crest cells undergo apoptosis within the circumpharyngeal ridge

• E10.5 embryos show improper colonization of posterior cardiac neural crest cells

skeleton

abnormal cranium morphology ( J:231470 )

• most of the bones that form the ventral cranial skeleton are greatly reduced in size

• head skeleton shows ventrolaterally positioned, dorsal cranial bones, including the frontal and parietal bones

abnormal neurocranium morphology ( J:231470 )

• embryos exhibit depressed cranial vaults

vision/eye

abnormal eye distance/ position ( J:231470 )

• embryos exhibit low set eyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Coffin-Siris syndrome		DOID:1925	OMIM:PS135900	J:231470

Genotype
MGI:6199475

cn233

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Lrp2^tm1Tew/Lrp2^tm1Tew
• Genetic Background: involves: C57BL/6J * CBA/J

vision/eye

vision/eye phenotype ( J:238249 )

N • mice exhibit normal retinal differentiation and eye formation

Genotype
MGI:7333170

cn234

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Kmt2d^tm2.1Kaig/Kmt2d⁺
• Genetic Background: involves: C57BL/6J * CBA/J

craniofacial

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• chondrocytes are not as hypertrophic with a decrease in cell area

small presphenoid bone ( J:294895 )

• reduced

short nasal bone ( J:294895 )

• less severe than in homozygous mice

domed cranium ( J:294895 )

• dome shaped forehead

broad face ( J:294895 )

abnormal snout morphology ( J:294895 )

• depressed snout

abnormal ear shape ( J:294895 )

• rounded ears

hearing/vestibular/ear

abnormal ear shape ( J:294895 )

• rounded ears

growth/size/body

short nasal bone ( J:294895 )

• less severe than in homozygous mice

broad face ( J:294895 )

abnormal snout morphology ( J:294895 )

• depressed snout

abnormal ear shape ( J:294895 )

• rounded ears

postnatal growth retardation ( J:294895 )

skeleton

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• chondrocytes are not as hypertrophic with a decrease in cell area

small presphenoid bone ( J:294895 )

• reduced

short nasal bone ( J:294895 )

• less severe than in homozygous mice

domed cranium ( J:294895 )

• dome shaped forehead

respiratory system

short nasal bone ( J:294895 )

• less severe than in homozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Kabuki syndrome		DOID:0060473	OMIM:147920 OMIM:300867	J:294895

Genotype
MGI:6460330

cn235

• Allelic Composition: Ldb1^tm1Lmgd/Ldb1^tm2Lmgd; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

neonatal lethality, complete penetrance ( J:208345 )

• mice die shortly after birth

craniofacial

craniofacial phenotype ( J:208345 )

N • face development is grossly unaffected; neural crest-derived cells show normal distribution in all facial primordia at E10.5

abnormal diastema morphology ( J:208345 )

• appearance of diastema teeth on the upper jaw

decreased molar number ( J:208345 )

• a loss of molars is observed in the upper jaw

arrest of tooth development ( J:208345 )

• lower molars are developmentally arrested

abnormal palatal mesenchymal cell proliferation ( J:208345 )

• at E13.5, a small localized decrease in mesenchymal cell proliferation is seen in the medial area of the anterior palate

• however, palatal mesenchyme shows no significant differences in apoptosis relative to controls

abnormal palatal shelf morphology ( J:208345 )

• starting at E13.5, the palatal shelf has an abnormal shape being more blunt and wider at the bottom; this is more pronounced in the anterior and middle levels than in the posterior level

• however, no adhesion between the palatal shelf and the tongue or oral epithelium is observed

decreased palatal shelf size ( J:208345 )

• starting at E14.5, the palatal shelves are smaller in the anterior and posterior palate

cleft secondary palate ( J:208345 )

• all mice exhibit fully cleft secondary palate at birth

abnormal palatal shelf elevation ( J:208345 )

• at E14.5, the middle palate and the posterior palate remain vertical, whereas the anterior palate is normally elevated above the tongue

• at E18.5, the posterior palate fails to elevate above the tongue, whereas the middle palate appears to have initiated re-orientation as shown by the presence of a protrusion on the medial side of the palatal shelf

• expression of Wnt5a, Pax9 and Osr2, which regulate palatal shelf elevation, is altered

• defect in middle/posterior palatal shelf elevation is not due to mechanical hindrance by the tongue

abnormal tongue position ( J:208345 )

• at E14.5 and E18.5, the tongue is abnormally tall

• however, in vitro head culture assays show that the defect in middle/posterior palatal shelf elevation is not due to interference by the tongue

growth/size/body

decreased molar number ( J:208345 )

• a loss of molars is observed in the upper jaw

arrest of tooth development ( J:208345 )

• lower molars are developmentally arrested

abnormal palatal mesenchymal cell proliferation ( J:208345 )

• at E13.5, a small localized decrease in mesenchymal cell proliferation is seen in the medial area of the anterior palate

• however, palatal mesenchyme shows no significant differences in apoptosis relative to controls

abnormal palatal shelf morphology ( J:208345 )

• starting at E13.5, the palatal shelf has an abnormal shape being more blunt and wider at the bottom; this is more pronounced in the anterior and middle levels than in the posterior level

• however, no adhesion between the palatal shelf and the tongue or oral epithelium is observed

decreased palatal shelf size ( J:208345 )

• starting at E14.5, the palatal shelves are smaller in the anterior and posterior palate

cleft secondary palate ( J:208345 )

• all mice exhibit fully cleft secondary palate at birth

abnormal palatal shelf elevation ( J:208345 )

• at E14.5, the middle palate and the posterior palate remain vertical, whereas the anterior palate is normally elevated above the tongue

• at E18.5, the posterior palate fails to elevate above the tongue, whereas the middle palate appears to have initiated re-orientation as shown by the presence of a protrusion on the medial side of the palatal shelf

• expression of Wnt5a, Pax9 and Osr2, which regulate palatal shelf elevation, is altered

• defect in middle/posterior palatal shelf elevation is not due to mechanical hindrance by the tongue

abnormal tongue position ( J:208345 )

• at E14.5 and E18.5, the tongue is abnormally tall

• however, in vitro head culture assays show that the defect in middle/posterior palatal shelf elevation is not due to interference by the tongue

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:208345 )

• at E13.5, a small localized decrease in mesenchymal cell proliferation is seen in the medial area of the anterior palate

• however, palatal mesenchyme shows no significant differences in apoptosis relative to controls

abnormal palatal shelf morphology ( J:208345 )

• starting at E13.5, the palatal shelf has an abnormal shape being more blunt and wider at the bottom; this is more pronounced in the anterior and middle levels than in the posterior level

• however, no adhesion between the palatal shelf and the tongue or oral epithelium is observed

decreased palatal shelf size ( J:208345 )

• starting at E14.5, the palatal shelves are smaller in the anterior and posterior palate

cleft secondary palate ( J:208345 )

• all mice exhibit fully cleft secondary palate at birth

abnormal palatal shelf elevation ( J:208345 )

• at E14.5, the middle palate and the posterior palate remain vertical, whereas the anterior palate is normally elevated above the tongue

• at E18.5, the posterior palate fails to elevate above the tongue, whereas the middle palate appears to have initiated re-orientation as shown by the presence of a protrusion on the medial side of the palatal shelf

• expression of Wnt5a, Pax9 and Osr2, which regulate palatal shelf elevation, is altered

• defect in middle/posterior palatal shelf elevation is not due to mechanical hindrance by the tongue

abnormal tongue position ( J:208345 )

• at E14.5 and E18.5, the tongue is abnormally tall

• however, in vitro head culture assays show that the defect in middle/posterior palatal shelf elevation is not due to interference by the tongue

skeleton

abnormal diastema morphology ( J:208345 )

• appearance of diastema teeth on the upper jaw

decreased molar number ( J:208345 )

• a loss of molars is observed in the upper jaw

arrest of tooth development ( J:208345 )

• lower molars are developmentally arrested

Genotype
MGI:7281828

cn236

• Allelic Composition: Runx3^tm3Yg/Runx3^tm3Yg; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

behavior/neurological

ataxia ( J:243559 )

• severe

abnormal gait ( J:243559 )

• severely impaired gait pattern

• posterior placement of forelimbs and uncoordinated limb placement

• at 3 months of age gait regularity is substantially decreased

skeleton

scoliosis ( J:243559 )

• more pronounced curvature compared to mice with Tg(Pou4f1-cre/ERT2)2Jiz mediated recombination with about a 75% incidence

• bend is to the right of the coronal plane

nervous system

absent proprioceptive neurons ( J:243559 )

• absence of TrkC expressing neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic scoliosis		DOID:0060250		J:243559

Genotype
MGI:6110828

cn237

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(CAG-Bmp4,-EGFP)1Ypc/0
• Genetic Background: involves: C57BL/6J * CBA/J * CD-1

craniofacial

frontal bone hypoplasia ( J:214763 )

abnormal jaw morphology ( J:214763 )

• slight decrease of cell proliferation rate in the maxillo-mandibular junction at E12.5

• ectopic cell apoptosis in the maxillo-mandibular junction at E12.5

absent mandibular angle ( J:214763 )

absent mandibular condyloid process ( J:214763 )

absent mandibular coronoid process ( J:214763 )

abnormal temporomandibular joint morphology ( J:214763 )

• temporomandibular joint agenesis

mandible hypoplasia ( J:214763 )

maxilla hypoplasia ( J:214763 )

agnathia ( J:214763 )

syngnathia ( J:214763 )

• bony fusion of the jaws resembling congenital bony syngnathia is seen as early as E16.5

• the bony structures connecting the maxilla and mandible appear to derive from the posterior portion of the maxilla

nasal bone hypoplasia ( J:214763 )

abnormal secondary palate development ( J:214763 )

• patterning of the secondary palate is disrupted; the anterior portion of the palatal shelves do not grow out from the maxilla at E13.5, and instead, a pair of palatal shelf-like structures originating from the mandible are seen, in a reverse direction with their tip pointing dorsally toward the nasal septum

• at E16.5, the palatal shelf-like structures remain separated and pointing dorsally along the tongue at the anterior level

• the mandibular protrusions are of palatal tissue origin

decreased palatal shelf size ( J:214763 )

• palate shelves appear smaller at the posterior levels

palatal shelf fusion with tongue or mandible ( J:214763 )

• palate shelves are abnormally fused with the mandible

cleft palate ( J:214763 )

short snout ( J:214763 )

absent outer ear ( J:214763 )

cellular

enhanced osteoblast differentiation ( J:214763 )

• increase in alkaline phosphatase (ALP) activity in the mandible and maxillo-mandibular junction at E12.5 and E13.5 indicating enhanced osteoblast differentiation

digestive/alimentary system

abnormal secondary palate development ( J:214763 )

• patterning of the secondary palate is disrupted; the anterior portion of the palatal shelves do not grow out from the maxilla at E13.5, and instead, a pair of palatal shelf-like structures originating from the mandible are seen, in a reverse direction with their tip pointing dorsally toward the nasal septum

• at E16.5, the palatal shelf-like structures remain separated and pointing dorsally along the tongue at the anterior level

• the mandibular protrusions are of palatal tissue origin

decreased palatal shelf size ( J:214763 )

• palate shelves appear smaller at the posterior levels

palatal shelf fusion with tongue or mandible ( J:214763 )

• palate shelves are abnormally fused with the mandible

cleft palate ( J:214763 )

growth/size/body

nasal bone hypoplasia ( J:214763 )

abnormal secondary palate development ( J:214763 )

• patterning of the secondary palate is disrupted; the anterior portion of the palatal shelves do not grow out from the maxilla at E13.5, and instead, a pair of palatal shelf-like structures originating from the mandible are seen, in a reverse direction with their tip pointing dorsally toward the nasal septum

• at E16.5, the palatal shelf-like structures remain separated and pointing dorsally along the tongue at the anterior level

• the mandibular protrusions are of palatal tissue origin

decreased palatal shelf size ( J:214763 )

• palate shelves appear smaller at the posterior levels

palatal shelf fusion with tongue or mandible ( J:214763 )

• palate shelves are abnormally fused with the mandible

cleft palate ( J:214763 )

short snout ( J:214763 )

absent outer ear ( J:214763 )

hearing/vestibular/ear

absent outer ear ( J:214763 )

skeleton

enhanced osteoblast differentiation ( J:214763 )

• increase in alkaline phosphatase (ALP) activity in the mandible and maxillo-mandibular junction at E12.5 and E13.5 indicating enhanced osteoblast differentiation

frontal bone hypoplasia ( J:214763 )

abnormal jaw morphology ( J:214763 )

• slight decrease of cell proliferation rate in the maxillo-mandibular junction at E12.5

• ectopic cell apoptosis in the maxillo-mandibular junction at E12.5

absent mandibular angle ( J:214763 )

absent mandibular condyloid process ( J:214763 )

absent mandibular coronoid process ( J:214763 )

abnormal temporomandibular joint morphology ( J:214763 )

• temporomandibular joint agenesis

mandible hypoplasia ( J:214763 )

maxilla hypoplasia ( J:214763 )

agnathia ( J:214763 )

syngnathia ( J:214763 )

• bony fusion of the jaws resembling congenital bony syngnathia is seen as early as E16.5

• the bony structures connecting the maxilla and mandible appear to derive from the posterior portion of the maxilla

nasal bone hypoplasia ( J:214763 )

vision/eye

eyelids open at birth ( J:214763 )

respiratory system

nasal bone hypoplasia ( J:214763 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft palate-lateral synechia syndrome		DOID:0080313	OMIM:119550	J:214763

Genotype
MGI:4361520

cn238

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0
• Genetic Background: involves: C57BL/6J * CBA/J * FVB/N

mortality/aging

postnatal lethality ( J:153094 )

• mice that exhibit a cleft palate die within 5 days of birth

craniofacial

abnormal craniofacial morphology ( J:153094 )

• mice exhibit craniofacial defects that become more pronounced with age

• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height

abnormal cranium morphology ( J:153094 )

• at E17.5 and P2, mice exhibit abnormal skull morphology

• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height

decreased cranium height ( J:153094 )

• mice exhibit a reduced skull length compared to in wild-type mice

• however, treatment with U0126 restores frontal bone morphology

large anterior fontanelle ( J:153094 )

• mice exhibit larger than normal anterior fontanelle

• however, treatment with U0126 restores normal anterior fontanelle morphology

abnormal frontal bone morphology ( J:153094 )

• mice exhibit taller frontal bone heights compared with wild-type mice

• however, treatment with U0126 restores frontal bone morphology

short mandible ( J:153094 )

• proportional to the small skull length

• however, treatment with U0126 restores mandible length

domed cranium ( J:153094 )

• dome-shaped head

cleft upper lip ( J:153094 )

• in 21% of mice

cleft palate ( J:153094 )

• in 21% of mice

abnormal nose morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

abnormal nasal cartilage morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

broad snout ( J:153094 )

• mice have a broad nose

lowered ear position ( J:153094 )

skeleton

abnormal cranium morphology ( J:153094 )

• at E17.5 and P2, mice exhibit abnormal skull morphology

• however, treatment with U0126 restores skull size, length, mandibular bone length, inner canthal distance, and frontal bone height

decreased cranium height ( J:153094 )

• mice exhibit a reduced skull length compared to in wild-type mice

• however, treatment with U0126 restores frontal bone morphology

large anterior fontanelle ( J:153094 )

• mice exhibit larger than normal anterior fontanelle

• however, treatment with U0126 restores normal anterior fontanelle morphology

abnormal frontal bone morphology ( J:153094 )

• mice exhibit taller frontal bone heights compared with wild-type mice

• however, treatment with U0126 restores frontal bone morphology

short mandible ( J:153094 )

• proportional to the small skull length

• however, treatment with U0126 restores mandible length

domed cranium ( J:153094 )

• dome-shaped head

abnormal nasal cartilage morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

growth/size/body

cleft upper lip ( J:153094 )

• in 21% of mice

cleft palate ( J:153094 )

• in 21% of mice

abnormal nose morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

abnormal nasal cartilage morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

broad snout ( J:153094 )

• mice have a broad nose

lowered ear position ( J:153094 )

decreased body weight ( J:153094 )

• mice exhibit a reduced body weight that is partially restored by treatment with U0126

webbed neck ( J:153094 )

• webbed neck

decreased body height ( J:153094 )

• mice exhibit a short stature that is partially restored by treatment with U0126

postnatal growth retardation ( J:153094 )

• pronounced at P2

decreased fetal size ( J:153094 )

• slightly at E17.5

embryo

abnormal neural crest cell migration ( J:153094 )

• neural crest cells fail to contribute to the parietal bone unlike in wild-type mice

hearing/vestibular/ear

lowered ear position ( J:153094 )

vision/eye

ocular hypertelorism ( J:153094 )

• mice exhibit hypetelorism compared with wild-type mice

increased inner canthal distance ( J:153094 )

• mice exhibit a greater inner canthal distance compared with wild-type mice

• however, treatment with U0126 restores inner canthal distance

digestive/alimentary system

cleft palate ( J:153094 )

• in 21% of mice

respiratory system

abnormal nose morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

abnormal nasal cartilage morphology ( J:153094 )

• nasal cartilage and bones do not fuse along the midline unlike in wild-type mice

integument

webbed neck ( J:153094 )

• webbed neck

cellular

abnormal neural crest cell migration ( J:153094 )

• neural crest cells fail to contribute to the parietal bone unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Noonan syndrome 1		DOID:0060578	OMIM:163950	J:153094

Genotype
MGI:2450742

cn239

• Allelic Composition: Pdgfra^tm8Sor/Pdgfra^tm8Sor; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: Not Specified

mortality/aging

postnatal lethality ( J:81153 )

cardiovascular system

abnormal vasculogenesis ( J:81153 )

• abnormal origin of the right subclavian artery

persistent truncus arteriosus ( J:81153 )

• observed between E17.7-E18.5

perimembraneous ventricular septal defect ( J:81153 )

hemorrhage ( J:81153 )

• midline hemorrhage

craniofacial

abnormal frontal bone morphology ( J:81153 )

• phenotype varied in severity; the frontal bones were absent or failed to fuse

abnormal nasal bone morphology ( J:81153 )

• phenotype varied in severity; the nasal bones were absent or failed to fuse

abnormal frontonasal prominence morphology ( J:81153 )

• developmental defects appear at E11.5 with a gap in the frontal nasal processes and progresses to hemorrhaging and blebbing by E13.5

abnormal nasal capsule morphology ( J:81153 )

• phenotype varied in severity; the nasal capsule was absent or failed to fuse

short snout ( J:81153 )

• snouts shortened by 8%

midline facial cleft ( J:81153 )

• phenotype varied in severity due to defects in the nasal capsule and/or frontal and nasal bones

immune system

small thymus ( J:81153 )

• observed with very low penetrance (3 out of 32 homozygous mutant embryos)

skeleton

abnormal frontal bone morphology ( J:81153 )

• phenotype varied in severity; the frontal bones were absent or failed to fuse

abnormal nasal bone morphology ( J:81153 )

• phenotype varied in severity; the nasal bones were absent or failed to fuse

abnormal nasal capsule morphology ( J:81153 )

• phenotype varied in severity; the nasal capsule was absent or failed to fuse

hematopoietic system

small thymus ( J:81153 )

• observed with very low penetrance (3 out of 32 homozygous mutant embryos)

respiratory system

abnormal nasal bone morphology ( J:81153 )

• phenotype varied in severity; the nasal bones were absent or failed to fuse

abnormal nasal capsule morphology ( J:81153 )

• phenotype varied in severity; the nasal capsule was absent or failed to fuse

endocrine/exocrine glands

small thymus ( J:81153 )

• observed with very low penetrance (3 out of 32 homozygous mutant embryos)

growth/size/body

abnormal nasal bone morphology ( J:81153 )

• phenotype varied in severity; the nasal bones were absent or failed to fuse

abnormal nasal capsule morphology ( J:81153 )

• phenotype varied in severity; the nasal capsule was absent or failed to fuse

short snout ( J:81153 )

• snouts shortened by 8%

midline facial cleft ( J:81153 )

• phenotype varied in severity due to defects in the nasal capsule and/or frontal and nasal bones

Genotype
MGI:3038354

cn240

• Allelic Composition: Tfap2a^tm1Hsv/Tfap2a^tm2Will; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: Not Specified

mortality/aging

neonatal lethality, incomplete penetrance ( J:88826 )

• a significant portion of mice died either immediately after or within days of birth, though some survive to weaning, most died shortly after birth due to neural tube defects and/or cleft secondary palate

• some pups exhibited anencephaly and either died or were cannibalized immediately after birth

• ~50% of mice, had a normal outward appearance, but died within the first day due to respiratory distress related to cleft secondary palate

pigmentation

belly spot ( J:88826 )

• observed on mice that survived to weaning

abnormal foot pigmentation ( J:88826 )

• white paws observed on mice that survived to weaning

abnormal tail pigmentation ( J:88826 )

• white bands observed on mice that survived to weaning

behavior/neurological

behavior/neurological phenotype ( J:88826 )

N • in spite of perturbed hearing, mice showed normal locomotive behavior

absent startle reflex ( J:88826 )

• mice did not startle when subjected to loud noise

cardiovascular system

cardiovascular system phenotype ( J:88826 )

N • no defect detected in the heart outflow tract

cellular

cellular phenotype ( J:88826 )

N • the amount of observed neural crest cell apoptosis did not exceed that which was observed in wild-type controls, in contrast to the extensive apoptosis observed in neural crest cells of Tcfap2a null mice

craniofacial

abnormal frontonasal suture morphology ( J:88826 )

• abnormal frontonasal suture lacking the degree of interdigitation observed in wild-type

• other cranial sutures appeared normal

abnormal neurocranium morphology ( J:88826 )

• while defects were not apparent in the skulls of newborns that did not exhibit anencephaly, craniofacial bone dysmorphologies arose with age

• while the upper jaw of affected mutants showed abnormal development, the morphology of the lower jaw was largely normal

wide frontal bone ( J:88826 )

• broader than those of wild-type

short frontal bone ( J:88826 )

• shorter than those of wild-type

small orbits ( J:88826 )

• abnormal development of craniofacial bones leads to restricted orbit size, conveying a small appearance of the eyes in the head

malocclusion ( J:88826 )

• while all teeth were present, the teeth of the upper jaw were misaligned, putatively due to the shortened snout

short maxilla ( J:88826 )

abnormal nasal bone morphology ( J:88826 )

broad nasal bone ( J:88826 )

short nasal bone ( J:88826 )

abnormal zygomatic bone morphology ( J:88826 )

• oblong stalked shape of zygomatic process

abnormal incus morphology ( J:88826 )

• flatter than controls

abnormal malleus morphology ( J:88826 )

• narrower across the base than the equivalent control bone and did not have a well-defined groove into which the incus normally fits

abnormal stapes morphology ( J:88826 )

• hypomorphic and only occurred as a small peg-shaped bone fragment

abnormal palatal shelf fusion at midline ( J:88826 )

• normal elevation but failed fusion of secondary palate

abnormal facial skin morphology ( J:88826 )

• snout shortening led to defects in skin integrity around the eyes and face that required euthanasia by ~2 months of age

abnormal periorbital skin morphology ( J:88826 )

• snout shortening led to defects in skin integrity around the eyes

short snout ( J:88826 )

• observed in mice that survived to weaning

• becoming more severe with age, eventually leading defects in skin integrity around the eyes and face

growth/size/body

malocclusion ( J:88826 )

• while all teeth were present, the teeth of the upper jaw were misaligned, putatively due to the shortened snout

abnormal nasal bone morphology ( J:88826 )

broad nasal bone ( J:88826 )

short nasal bone ( J:88826 )

abnormal palatal shelf fusion at midline ( J:88826 )

• normal elevation but failed fusion of secondary palate

abnormal facial skin morphology ( J:88826 )

• snout shortening led to defects in skin integrity around the eyes and face that required euthanasia by ~2 months of age

abnormal periorbital skin morphology ( J:88826 )

• snout shortening led to defects in skin integrity around the eyes

short snout ( J:88826 )

• observed in mice that survived to weaning

• becoming more severe with age, eventually leading defects in skin integrity around the eyes and face

decreased body weight ( J:88826 )

• while the weight of mice did not differ from that of wild-type at birth, those that survived to weaning weighed 26% less than controls

• failure to thrive, at least in part, is attributed to abnormal craniofacial development and consequent feeding impairment

hearing/vestibular/ear

abnormal incus morphology ( J:88826 )

• flatter than controls

abnormal malleus morphology ( J:88826 )

• narrower across the base than the equivalent control bone and did not have a well-defined groove into which the incus normally fits

abnormal stapes morphology ( J:88826 )

• hypomorphic and only occurred as a small peg-shaped bone fragment

limbs/digits/tail

abnormal tail pigmentation ( J:88826 )

• white bands observed on mice that survived to weaning

respiratory system

abnormal nasal bone morphology ( J:88826 )

broad nasal bone ( J:88826 )

short nasal bone ( J:88826 )

respiratory distress ( J:88826 )

• ~50% of mice developed respiratory distress and died within 1 day of birth

• associated with cleft secondary palate

skeleton

abnormal frontonasal suture morphology ( J:88826 )

• abnormal frontonasal suture lacking the degree of interdigitation observed in wild-type

• other cranial sutures appeared normal

abnormal neurocranium morphology ( J:88826 )

• while defects were not apparent in the skulls of newborns that did not exhibit anencephaly, craniofacial bone dysmorphologies arose with age

• while the upper jaw of affected mutants showed abnormal development, the morphology of the lower jaw was largely normal

wide frontal bone ( J:88826 )

• broader than those of wild-type

short frontal bone ( J:88826 )

• shorter than those of wild-type

small orbits ( J:88826 )

• abnormal development of craniofacial bones leads to restricted orbit size, conveying a small appearance of the eyes in the head

malocclusion ( J:88826 )

• while all teeth were present, the teeth of the upper jaw were misaligned, putatively due to the shortened snout

short maxilla ( J:88826 )

abnormal nasal bone morphology ( J:88826 )

broad nasal bone ( J:88826 )

short nasal bone ( J:88826 )

abnormal zygomatic bone morphology ( J:88826 )

• oblong stalked shape of zygomatic process

abnormal incus morphology ( J:88826 )

• flatter than controls

abnormal malleus morphology ( J:88826 )

• narrower across the base than the equivalent control bone and did not have a well-defined groove into which the incus normally fits

abnormal stapes morphology ( J:88826 )

• hypomorphic and only occurred as a small peg-shaped bone fragment

nervous system

nervous system phenotype ( J:88826 )

N • no defect detected in the cranial ganglia, in contrast to the extensive hypoplasia observed in Tcfap2a null mice

incomplete rostral neuropore closure ( J:88826 )

• occasional embryos exhibited severe neural tube defects affecting the entire cranial region - similar to what is observed in Tcfap2a null mice

open neural tube ( J:88826 )

• confined to the cranial neural tube and not observed affecting the trunk neural tube

anencephaly ( J:88826 )

• incomplete penetrance, observed in 15-20% of mice leading to death immediately after birth

exencephaly ( J:88826 )

• incomplete penetrance, observed in ~15% of mice

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:88826 )

• normal elevation but failed fusion of secondary palate

embryo

incomplete rostral neuropore closure ( J:88826 )

• occasional embryos exhibited severe neural tube defects affecting the entire cranial region - similar to what is observed in Tcfap2a null mice

open neural tube ( J:88826 )

• confined to the cranial neural tube and not observed affecting the trunk neural tube

vision/eye

small orbits ( J:88826 )

• abnormal development of craniofacial bones leads to restricted orbit size, conveying a small appearance of the eyes in the head

integument

abnormal facial skin morphology ( J:88826 )

• snout shortening led to defects in skin integrity around the eyes and face that required euthanasia by ~2 months of age

abnormal periorbital skin morphology ( J:88826 )

• snout shortening led to defects in skin integrity around the eyes

belly spot ( J:88826 )

• observed on mice that survived to weaning

abnormal foot pigmentation ( J:88826 )

• white paws observed on mice that survived to weaning

abnormal tail pigmentation ( J:88826 )

• white bands observed on mice that survived to weaning

Genotype
MGI:3050407

cn241

• Allelic Composition: Hoxb1^tm5Mrc/Hoxb1^tm7Mrc; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: Not Specified

behavior/neurological

abnormal reflex ( J:91364 )

• some mutants are unable to move their ears

abnormal blinking ( J:91364 )

• some mutants are unable to blink their eyes

abnormal vibrissae reflex ( J:91364 )

• some mutants are unable to move their whiskers

paralysis ( J:91364 )

• 35% of mutants show total facial paralysis and another 10% show partial facial paralysis

nervous system

decreased motor neuron number ( J:91364 )

• increased motor neuron loss is seen from E14.5 to E16.5 when motor neuron pruning normally occurs resulting a significant decrease in the average number of motor neurons in mutants compared to wild-type mice

abnormal facial nerve morphology ( J:91364 )

• loss of VII th cranial nerve branches is seen

• at E12.5 the average number of axonal branch points is decreased

Genotype
MGI:6267037

cx242

• Allelic Composition: Ywhaz^{Gt(OST432062)Lex}/Ywhaz^{Gt(OST432062)Lex}; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

pigmentation

pigmentation phenotype ( J:242528 )

N • at P21, mice do not show white patches of fur on the ventral region of their torso or any other region

Genotype
MGI:5551395

cx243

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Wnt1-GAL4)11Rth/0
• Genetic Background: involves: C57BL/6J * CBA/J * Swiss albino

behavior/neurological

abnormal behavior ( J:192250 )

• males spend more time in the center of the open field than wild-type males; no differences are observed with females of either genotype

abnormal spatial learning ( J:192250 )

• in the Morris water maze probe test, females show significant impairment relative to controls; males show no difference

abnormal anxiety-related response ( J:192250 )

• males spend more time in the open center of the elevated plus maze compared to wild-type males; no differences are observed in female mutants or controls

increased locomotor activity ( J:192250 )

• males and females exhibit significantly increased locomotor activity

abnormal nest building behavior ( J:192250 )

• mice show less nest building behavior than wild-type during a 3 day observation period

abnormal social investigation ( J:192250 )

• mutant males show decreased social interactions relative to wild-type with lower total number and duration of interactions with unfamiliar mice; females show no significant differences from wild-type

nervous system

abnormal midbrain development ( J:192250 )

• cholinergic and glutamatergic fibers from the medial habenula nucleus are disordered in males and females; immunolabeling shows irregular tracts in the interpeduncular nucleus