Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
![]() ![]() | acrocephalosyndactylia | FGFR2* | Fgfr2* | 8 models | Alliance of Genome Resources | ||
acrodysostosis | PRKAR1A* | Prkar1a* | 1 model | Alliance of Genome Resources | |||
brachydactyly type A1 | IHH* | Ihh* | 1 model | Alliance of Genome Resources | |||
brachydactyly type A1C | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
brachydactyly type A2 | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
brachydactyly type C | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
Carpenter syndrome | MEGF8* | Megf8* | 2 models | Alliance of Genome Resources | |||
craniosynostosis | MSX2* | Msx2* | 3 models | Alliance of Genome Resources | |||
Crouzon syndrome | FGFR2* | Fgfr2* | 4 models | Alliance of Genome Resources | |||
Greig cephalopolysyndactyly syndrome | GLI3* | Gli3* | 1 model | Alliance of Genome Resources | |||
Muenke Syndrome | FGFR3* | Fgfr3* | 6 models | Alliance of Genome Resources | |||
Pfeiffer syndrome | FGFR1* | Fgfr1* | 2 models | Alliance of Genome Resources | |||
Pfeiffer syndrome | FGFR2* | Fgfr2* | 1 model | Alliance of Genome Resources | |||
Saethre-Chotzen syndrome | TWIST1* | Twist1* | 8 models | Alliance of Genome Resources | |||
![]() | craniosynostosis | AXIN2 | Axin2* | 1 model | Alliance of Genome Resources | ||
Crouzon syndrome | Bey* | 1 model | |||||
dysostosis | KIF3A | Kif3a* | 1 model | Alliance of Genome Resources | |||
multiple synostoses syndrome | GDF5 | Gdf5* | 1 model | Alliance of Genome Resources | |||
multiple synostoses syndrome | FGF9 | Fgf9* | 2 models | Alliance of Genome Resources | |||
spondylocostal dysostosis | HES7 | Hes7* | 1 model | Alliance of Genome Resources | |||
spondylocostal dysostosis | DLL3 | Dll3* | 1 model | Alliance of Genome Resources | |||
spondylocostal dysostosis | RIPPLY2 | Ripply2* | 1 model | Alliance of Genome Resources | |||
syndactyly | b2b1594Clo* | 1 model | |||||
synpolydactyly | HOXD13 | Hoxd13* | 3 models | Alliance of Genome Resources | |||
![]() | acrocephalosyndactylia | TWIST1* | Twist1 | Alliance of Genome Resources | |||
acrocephalosyndactylia | FGFR1* | Fgfr1 | Alliance of Genome Resources | ||||
acrodysostosis | PDE4D* | Pde4d | Alliance of Genome Resources | ||||
acrofacial dysostosis Cincinnati type | POLR1A* | Polr1a | Alliance of Genome Resources | ||||
acromelic frontonasal dysostosis | ZSWIM6* | Zswim6 | Alliance of Genome Resources | ||||
Antley-Bixler syndrome | FGFR2* | Fgfr2 | Alliance of Genome Resources | ||||
Antley-Bixler syndrome with disordered steroidogenesis | POR* | Por | Alliance of Genome Resources | ||||
Antley-Bixler syndrome without disordered steroidogenesis | FGFR2* | Fgfr2 | Alliance of Genome Resources | ||||
Baller-Gerold syndrome | RECQL4* | Recql4 | Alliance of Genome Resources | ||||
brachydactyly | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
brachydactyly | SLC26A2* | Slc26a2 | Alliance of Genome Resources | ||||
brachydactyly type A1 | GDF5* | Gdf5 | Alliance of Genome Resources | ||||
brachydactyly type A1D | BMPR1B* | Bmpr1b | Alliance of Genome Resources | ||||
brachydactyly type A2 | BMP2* | Bmp2 | Alliance of Genome Resources | ||||
brachydactyly type A2 | BMPR1B* | Bmpr1b | Alliance of Genome Resources | ||||
brachydactyly type A4 | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
brachydactyly type B1 | ROR2* | Ror2 | 1 "NOT" model | Alliance of Genome Resources | |||
brachydactyly type B2 | NOG* | Nog | Alliance of Genome Resources | ||||
brachydactyly type D | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
brachydactyly type E1 | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
brachydactyly type E2 | PTHLH* | Pthlh | Alliance of Genome Resources | ||||
Carpenter syndrome | RAB23* | Rab23 | Alliance of Genome Resources | ||||
Cenani-Lenz syndactyly syndrome | LRP4* | Lrp4 | Alliance of Genome Resources | ||||
craniosynostosis | FGFR3* | Fgfr3 | Alliance of Genome Resources | ||||
craniosynostosis | FLNA* | Flna | Alliance of Genome Resources | ||||
craniosynostosis | NOG* | Nog | Alliance of Genome Resources | ||||
craniosynostosis | TCF12* | Tcf12 | Alliance of Genome Resources | ||||
craniosynostosis | TWIST1* | Twist1 | Alliance of Genome Resources | ||||
craniosynostosis | ZIC1* | Zic1 | Alliance of Genome Resources | ||||
craniosynostosis | ERF* | Erf | Alliance of Genome Resources | ||||
craniosynostosis | BBS9* | Bbs9 | Alliance of Genome Resources | ||||
craniosynostosis | ALX4* | Alx4 | Alliance of Genome Resources | ||||
craniosynostosis | FGFR2* | Fgfr2 | Alliance of Genome Resources | ||||
craniosynostosis 7 | SMAD6* | Smad6 | Alliance of Genome Resources | ||||
dysostosis | DLL3* | Dll3 | Alliance of Genome Resources | ||||
dysostosis | EFNB1* | Efnb1 | Alliance of Genome Resources | ||||
ischiocoxopodopatellar syndrome | TBX4* | Tbx4 | Alliance of Genome Resources | ||||
Laurin-Sandrow syndrome | LMBR1* | Lmbr1 | Alliance of Genome Resources | ||||
multiple synostoses syndrome 1 | NOG* | Nog | Alliance of Genome Resources | ||||
multiple synostoses syndrome 1 | GDF5* | Gdf5 | Alliance of Genome Resources | ||||
multiple synostoses syndrome 2 | GDF5* | Gdf5 | Alliance of Genome Resources | ||||
multiple synostoses syndrome 3 | FGF9* | Fgf9 | Alliance of Genome Resources | ||||
multiple synostoses syndrome 4 | GDF6* | Gdf6 | Alliance of Genome Resources | ||||
Nager acrofacial dysostosis | SF3B4* | Sf3b4 | Alliance of Genome Resources | ||||
Saethre-Chotzen syndrome | FGFR2* | Fgfr2 | Alliance of Genome Resources | ||||
spondylocostal dysostosis 1 | DLL3* | Dll3 | Alliance of Genome Resources | ||||
spondylocostal dysostosis 2 | MESP2* | Mesp2 | Alliance of Genome Resources | ||||
spondylocostal dysostosis 3 | LFNG* | Lfng | Alliance of Genome Resources | ||||
spondylocostal dysostosis 4 | HES7* | Hes7 | Alliance of Genome Resources | ||||
spondylocostal dysostosis 5 | TBX6* | Tbx6 | Alliance of Genome Resources | ||||
spondylocostal dysostosis 6 | RIPPLY2* | Ripply2 | Alliance of Genome Resources | ||||
syndactyly | GLI3* | Gli3 | Alliance of Genome Resources | ||||
syndactyly | IRF6* | Irf6 | Alliance of Genome Resources | ||||
syndactyly type 1 | IHH* | Ihh | Alliance of Genome Resources | ||||
syndactyly type 3 | GJA1*, GJA6P | Gja1, Gja6 | Alliance of Genome Resources | ||||
syndactyly type 4 | SHH* | Shh | Alliance of Genome Resources | ||||
syndactyly type 4 | LMBR1* | Lmbr1 | Alliance of Genome Resources | ||||
syndactyly type 5 | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
syndactyly type 8 | FGF16* | Fgf16 | Alliance of Genome Resources | ||||
tarsal-carpal coalition syndrome | NOG* | Nog | Alliance of Genome Resources | ||||
Weyers acrofacial dysostosis | EVC* | Evc | Alliance of Genome Resources | ||||
Weyers acrofacial dysostosis | EVC2* | Evc2 | Alliance of Genome Resources |
Transgenes and other genome features developed in mice to model this disease.
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Disease Term | Transgenes and Other Genome Features | Mouse Models | |
craniosynostosis | Tg(Nell1)1Ting | 1 model | |
craniosynostosis | Tg(Timp1-Msx2*P7H)1Rem | 1 model | |
craniosynostosis | Tg(CMV-Msx2*P7H)1Rem | 1 model | |
craniosynostosis | Tg(Msx2)1Rem | 1 model |