Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
spondyloepiphyseal dysplasia congenita | COL2A1* | Col2a1* | 7 models | Alliance of Genome Resources | |||
spondyloepiphyseal dysplasia congenita | HAPLN1 | Hapln1* | 1 model | Alliance of Genome Resources | |||
spondyloepiphyseal dysplasia Kimberley type | ACAN* | Acan | Alliance of Genome Resources | ||||
spondyloepiphyseal dysplasia Kondo-Fu type | MBTPS1* | Mbtps1 | Alliance of Genome Resources | ||||
spondyloepiphyseal dysplasia Maroteaux type | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
spondyloepiphyseal dysplasia Nishimura type | MIR140* | Mir140 | Alliance of Genome Resources | ||||
spondyloepiphyseal dysplasia Stanescu type | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
spondyloepiphyseal dysplasia with congenital joint dislocations | CHST3* | Chst3 | Alliance of Genome Resources | ||||
X-linked spondyloepiphyseal dysplasia tarda | TRAPPC2*, TRAPPC2B | Trappc2, Trappc2b | 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 | |
spondyloepiphyseal dysplasia congenita | Tg(Col2a1*R789C)#Waho | 1 model |