| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
  | acheiropody | LMBR1* | Lmbr1* | 1 model | Alliance of Genome Resources | ||
| achondrogenesis type IA | TRIP11* | Trip11* | 3 models | Alliance of Genome Resources | |||
| achondrogenesis type II | COL2A1* | Col2a1* | 1 model | Alliance of Genome Resources | |||
| achondroplasia | FGFR3* | Fgfr3* | 9 models | Alliance of Genome Resources | |||
| acromesomelic dysplasia, Grebe type | GDF5* | Gdf5* | 2 models | Alliance of Genome Resources | |||
| acromesomelic dysplasia, Hunter-Thompson type | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
| acromesomelic dysplasia, Maroteaux type | NPR2* | Npr2* | 2 models | Alliance of Genome Resources | |||
| campomelic dysplasia | SOX9* | Sox9* | 9 models | Alliance of Genome Resources | |||
| chondrodysplasia with joint dislocations gPAPP type | BPNT2* | Bpnt2* | 1 model | Alliance of Genome Resources | |||
| cleidocranial dysplasia | RUNX2* | Runx2* | 4 models | Alliance of Genome Resources | |||
| Desbuquois dysplasia | CANT1* | Cant1* | 2 models | Alliance of Genome Resources | |||
| diastrophic dysplasia | SLC26A2* | Slc26a2* | 1 model | Alliance of Genome Resources | |||
| fibular hypoplasia and complex brachydactyly | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
| gnathodiaphyseal dysplasia | ANO5* | Ano5* | 2 models | Alliance of Genome Resources | |||
| hypertrichotic osteochondrodysplasia Cantu type | ABCC9* | Abcc9* | 4 models | Alliance of Genome Resources | |||
| hypochondroplasia | FGFR3* | Fgfr3* | 1 model | Alliance of Genome Resources | |||
| microcephalic osteodysplastic primordial dwarfism type II | PCNT* | Pcnt* | 1 model | Alliance of Genome Resources | |||
| multiple epiphyseal dysplasia 5 | MATN3* | Matn3* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta | COL1A2* | Col1a2* | 5 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta | COL1A1* | Col1a1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 1 | COL1A1* | Col1a1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 10 | SERPINH1* | Serpinh1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 2 | COL1A1* | Col1a1* | 2 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 3 | COL1A1* | Col1a1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 3 | COL1A2* | Col1a2* | 2 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 4 | COL1A1* | Col1a1* | 3 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 5 | IFITM5* | Ifitm5* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 6 | SERPINF1* | Serpinf1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 7 | CRTAP* | Crtap* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 8 | P3H1* | P3h1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 9 | PPIB* | Ppib* | 2 models | Alliance of Genome Resources | |||
| otospondylomegaepiphyseal dysplasia, autosomal recessive | COL11A2* | Col11a2* | 1 model | Alliance of Genome Resources | |||
| progressive pseudorheumatoid arthropathy of childhood | CCN6* | Ccn6* | 3 models | Alliance of Genome Resources | |||
| pseudoachondroplasia | COMP* | Comp* | 2 models | Alliance of Genome Resources | |||
| Schimke immuno-osseous dysplasia | SMARCAL1* | Smarcal1* | 1 model | Alliance of Genome Resources | |||
| Schmid metaphyseal chondrodysplasia | COL10A1* | Col10a1* | 3 models | Alliance of Genome Resources | |||
| schneckenbecken dysplasia | SLC35D1* | Slc35d1* | 1 model | Alliance of Genome Resources | |||
| Silverman-Handmaker type dyssegmental dysplasia | HSPG2* | Hspg2* | 2 models | Alliance of Genome Resources | |||
| Smith-McCort dysplasia 2 | RAB33B* | Rab33b* | 2 models | Alliance of Genome Resources | |||
| spondyloepimetaphyseal dysplasia, Pakistani type | PAPSS2* | Papss2* | 1 model | Alliance of Genome Resources | |||
| spondyloepiphyseal dysplasia congenita | COL2A1* | Col2a1* | 7 models | Alliance of Genome Resources | |||
| thanatophoric dysplasia | FGFR3* | Fgfr3* | 4 models | Alliance of Genome Resources | |||
| | achondroplasia | SPRED2 | Spred2* | 1 model | Alliance of Genome Resources | ||
| achondroplasia | PTHLH | Pthlh* | 1 model | Alliance of Genome Resources | |||
| achondroplasia | NPR2 | Npr2* | 3 models | Alliance of Genome Resources | |||
| achondroplasia | NPPC | Nppc* | 2 models | Alliance of Genome Resources | |||
| achondroplasia | ACAN | Acan* | 1 model | Alliance of Genome Resources | |||
| cleidocranial dysplasia | Ccd* | 2 models | |||||
| hypertrichotic osteochondrodysplasia Cantu type | KCNJ8 | Kcnj8* | 1 model | Alliance of Genome Resources | |||
| hypochondrogenesis | COL2A1 | Col2a1* | 1 model | Alliance of Genome Resources | |||
| Leri-Weill dyschondrosteosis | SHOX2 | Shox2* | 1 model | Alliance of Genome Resources | |||
| multiple epiphyseal dysplasia | COMP | Comp* | 1 model | Alliance of Genome Resources | |||
| osteochondrodysplasia | ATF2 | Atf2* | 1 model | Alliance of Genome Resources | |||
| osteochondrodysplasia | NPPC | Nppc* | 1 model | Alliance of Genome Resources | |||
| osteochondrodysplasia | RNF146 | Rnf146* | 1 model | Alliance of Genome Resources | |||
| osteochondrodysplasia | MIR140 | Mir140* | 2 models | Alliance of Genome Resources | |||
| osteochondrodysplasia | CEBPB | Cebpb* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta | SMPD3 | Smpd3* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta | SMAD4 | Smad4* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 2 | SMPD3 | Smpd3* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 3 | SMPD3 | Smpd3* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 5 | SUCO | Suco* | 1 model | Alliance of Genome Resources | |||
| Smith-McCort dysplasia | DYM | Dym* | 1 model | Alliance of Genome Resources | |||
| spondyloepimetaphyseal dysplasia | COL2A1 | Col2a1* | 2 models | Alliance of Genome Resources | |||
| spondyloepiphyseal dysplasia congenita | HAPLN1 | Hapln1* | 1 model | Alliance of Genome Resources | |||
| thanatophoric dysplasia | HSPG2 | Hspg2* | 1 model | Alliance of Genome Resources | |||
| Weissenbacher-Zweymuller syndrome | ACVR2A | Acvr2a* | 1 model | Alliance of Genome Resources | |||
| Weissenbacher-Zweymuller syndrome | hpmd* | 1 model | |||||
| Weissenbacher-Zweymuller syndrome | MAPK1 | Mapk1* | 1 model | Alliance of Genome Resources | |||
| Weissenbacher-Zweymuller syndrome | SOX11 | Sox11* | 1 model | Alliance of Genome Resources | |||
| Weissenbacher-Zweymuller syndrome | TFRC | Tfrc* | 1 model | Alliance of Genome Resources | |||
| | achondrogenesis type IB | SLC26A2* | Slc26a2 | Alliance of Genome Resources | |||
| acrocapitofemoral dysplasia | IHH* | Ihh | Alliance of Genome Resources | ||||
| acromesomelic dysplasia-3 | BMPR1B* | Bmpr1b | Alliance of Genome Resources | ||||
| acromesomelic dysplasia-4 | PRKG2* | Prkg2 | Alliance of Genome Resources | ||||
| acromicric dysplasia | FBN1* | Fbn1 | Alliance of Genome Resources | ||||
| anauxetic dysplasia 1 | RMRP* | Rmrp | Alliance of Genome Resources | ||||
| anauxetic dysplasia 2 | POP1* | Pop1 | Alliance of Genome Resources | ||||
| anauxetic dysplasia 3 | NEPRO* | Nepro | Alliance of Genome Resources | ||||
| atelosteogenesis | FLNB* | Flnb | Alliance of Genome Resources | ||||
| atelosteogenesis | SLC26A2* | Slc26a2 | Alliance of Genome Resources | ||||
| axial spondylometaphyseal dysplasia | CFAP410* | Cfap410 | Alliance of Genome Resources | ||||
| Boomerang dysplasia | FLNB* | Flnb | Alliance of Genome Resources | ||||
| calvarial doughnut lesions with bone fragility | SGMS2* | Sgms2 | Alliance of Genome Resources | ||||
| cartilage disease | BMP4* | Bmp4 | Alliance of Genome Resources | ||||
| chondrodysplasia Blomstrand type | PTH1R* | Pth1r | Alliance of Genome Resources | ||||
| Cole-Carpenter syndrome | P4HB* | P4hb | Alliance of Genome Resources | ||||
| Cole-Carpenter syndrome | SEC24D* | Sec24d | Alliance of Genome Resources | ||||
| Desbuquois dysplasia | XYLT1* | Xylt1 | Alliance of Genome Resources | ||||
| diaphyseal medullary stenosis with malignant fibrous histiocytoma | MTAP* | Mtap | Alliance of Genome Resources | ||||
| Dyggve-Melchior-Clausen disease | DYM* | Dym | Alliance of Genome Resources | ||||
| fibrochondrogenesis 1 | COL11A1* | Col11a1 | Alliance of Genome Resources | ||||
| fibrochondrogenesis 2 | COL11A2* | Col11a2 | Alliance of Genome Resources | ||||
| Jansen's metaphyseal chondrodysplasia | PTH1R* | Pth1r | Alliance of Genome Resources | ||||
| Kenny-Caffey syndrome type 1 | TBCE* | Tbce | Alliance of Genome Resources | ||||
| Kenny-Caffey syndrome type 2 | FAM111A* | Fam111a | Alliance of Genome Resources | ||||
| Kniest dysplasia | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| Leri-Weill dyschondrosteosis | SHOX* | ||||||
| metachondromatosis | PTPN11* | Ptpn11 | Alliance of Genome Resources | ||||
| metaphyseal dysplasia | SFRP4* | Sfrp4 | Alliance of Genome Resources | ||||
| metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome | RUNX2* | Runx2 | Alliance of Genome Resources | ||||
| metatropic dysplasia | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
| microcephalic osteodysplastic primordial dwarfism type I | RNU4ATAC* | ||||||
| microcephaly, short stature, and limb abnormalities | DONSON* | Donson | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 1 | COMP* | Comp | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 2 | COL9A2* | Col9a2 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 3 | COL9A3* | Col9a3 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 4 | SLC26A2* | Slc26a2 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 6 | COL9A1* | Col9a1 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 7 | CANT1* | Cant1 | Alliance of Genome Resources | ||||
| omodysplasia 1 | GPC6* | Gpc6 | Alliance of Genome Resources | ||||
| omodysplasia 2 | FZD2* | Fzd2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL9A1* | Col9a1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL9A2* | Col9a2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL9A3* | Col9a3 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL10A1* | Col10a1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL11A2* | Col11a2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COMP* | Comp | Alliance of Genome Resources | ||||
| osteochondrodysplasia | DYM* | Dym | Alliance of Genome Resources | ||||
| osteochondrodysplasia | FLNB* | Flnb | Alliance of Genome Resources | ||||
| osteochondrodysplasia | HSPG2* | Hspg2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | LIFR* | Lifr | Alliance of Genome Resources | ||||
| osteochondrodysplasia | MATN3* | Matn3 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | PTH1R* | Pth1r | Alliance of Genome Resources | ||||
| osteochondrodysplasia | SLC26A2* | Slc26a2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | TGFB1* | Tgfb1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | TRPS1* | Trps1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | FLNA* | Flna | Alliance of Genome Resources | ||||
| osteochondrodysplasia | BMPR1B* | Bmpr1b | Alliance of Genome Resources | ||||
| osteochondrodysplasia | CHST3* | Chst3 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta | PHLDB1* | Phldb1 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta | CCDC134* | Ccdc134 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 11 | FKBP10* | Fkbp10 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 12 | SP7* | Sp7 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 13 | BMP1* | Bmp1 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 14 | TMEM38B* | Tmem38b | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 15 | WNT1* | Wnt1 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 16 | CREB3L1* | Creb3l1 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 17 | SPARC* | Sparc | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 18 | TENT5A* | Tent5a | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 19 | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 2 | COL1A2* | Col1a2 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 20 | MESD* | Mesd | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 21 | KDELR2* | Kdelr2 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 4 | COL1A2* | Col1a2 | Alliance of Genome Resources | ||||
| osteoglophonic dysplasia | FGFR1* | Fgfr1 | Alliance of Genome Resources | ||||
| osteosclerotic metaphyseal dysplasia | LRRK1* | Lrrk1 | Alliance of Genome Resources | ||||
| otospondylomegaepiphyseal dysplasia, autosomal dominant | COL11A2* | Col11a2 | Alliance of Genome Resources | ||||
| parastremmatic dwarfism | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
| pycnodysostosis | CTSK* | Ctsk | Alliance of Genome Resources | ||||
| Smith-McCort dysplasia 1 | DYM* | Dym | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Genevieve-type | NANS* | Nans | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Missouri type | MMP13* | Mmp13 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Sponastrime type | TONSL* | Tonsl | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Strudwick type | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia with joint laxity type 1 | B3GALT6* | B3galt6 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia with joint laxity type 2 | KIF22* | Kif22 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia with joint laxity type 3 | EXOC6B* | Exoc6b | 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 | ||||
| spondylometaepiphyseal dysplasia, short limb-hand type | DDR2* | Ddr2 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia | ACP5* | Acp5 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia | PRKG2* | Prkg2 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia corner fracture type | FN1* | Fn1 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia Kozlowski type | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia Megarbane-Dagher-Melike type | PAM16* | Pam16, Pam16l | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia Sedaghatian type | GPX4* | Gpx4 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia with cone-rod dystrophy | PCYT1A* | Pcyt1a | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia with corneal dystrophy | PLCB3* | Plcb3 | Alliance of Genome Resources | ||||
| spondyloperipheral dysplasia | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| Tietze's syndrome | MITF* | Mitf | Alliance of Genome Resources | ||||
| Torrance type platyspondylic dysplasia | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| X-linked spondyloepimetaphyseal dysplasia | BGN* | Bgn | Alliance of Genome Resources | ||||
| X-linked spondyloepiphyseal dysplasia tarda | TRAPPC2*, TRAPPC2B | Trappc2, Trappc2b | Alliance of Genome Resources | ||||
Excel File
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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 | |
| achondroplasia | Tg(FGFR3-G380R)7Aya | 2 models | |
| achondroplasia | Tg(Col2a1-Fgfr3/GH)BDor | 1 model | |
| hypochondrogenesis | Tg(Col2a1*G574S)1Waho | 1 model | |
| osteogenesis imperfecta type 1 | Tg(COL1A1)73Prc | 1 model | |
| osteogenesis imperfecta type 5 | Tg(Col1a1-Ifitm5*)1Brle | 1 model | |
| pseudoachondroplasia | Tg(Col2a1-rtTA,tetO-COMP*)2Jath | 1 model | |
| spondyloepiphyseal dysplasia congenita | Tg(Col2a1*R789C)#Waho | 1 model | |