Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
3-methylglutaconic aciduria type 3 | OPA3* | Opa3* | 1 model | Alliance of Genome Resources | |||
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | SERAC1* | Serac1* | 1 model | Alliance of Genome Resources | |||
Barth syndrome | TAFAZZIN* | Tafazzin* | 3 models | Alliance of Genome Resources | |||
glutaric acidemia I | GCDH* | Gcdh* | 2 models | Alliance of Genome Resources | |||
maple syrup urine disease | BCKDHB* | Bckdhb* | 1 model | Alliance of Genome Resources | |||
maple syrup urine disease | DBT* | Dbt* | 3 models | Alliance of Genome Resources | |||
maple syrup urine disease | PPM1K* | Ppm1k* | 1 model | Alliance of Genome Resources | |||
methylmalonic acidemia and homocysteinemia cblX type | HCFC1* | Hcfc1* | 1 model | Alliance of Genome Resources | |||
methylmalonic acidemia due to transcobalamin receptor defect | CD320* | Cd320* | 1 model | Alliance of Genome Resources | |||
methylmalonic aciduria and homocystinuria type cblC | MMACHC* | Mmachc* | 1 model | Alliance of Genome Resources | |||
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | MMUT* | Mmut* | 9 models | Alliance of Genome Resources | |||
propionic acidemia | PCCA* | Pcca* | 2 models | Alliance of Genome Resources | |||
Barth syndrome | MEST | Mest* | 1 model | Alliance of Genome Resources | |||
Barth syndrome | FKBP1A, FKBP1C | Fkbp1a* | 1 model | Alliance of Genome Resources | |||
maple syrup urine disease | BCAT2 | Bcat2* | 1 model | Alliance of Genome Resources | |||
methylmalonic aciduria and homocystinuria type cblC | THAP11 | Thap11* | 1 model | Alliance of Genome Resources | |||
3-methylglutaconic aciduria type 1 | AUH* | Auh | Alliance of Genome Resources | ||||
3-methylglutaconic aciduria type 5 | DNAJC19* | Dnajc19, Dnajc19-ps | Alliance of Genome Resources | ||||
3-methylglutaconic aciduria type 7a | CLPB* | Clpb | Alliance of Genome Resources | ||||
3-methylglutaconic aciduria type 7b | CLPB* | Clpb | Alliance of Genome Resources | ||||
3-methylglutaconic aciduria type 8 | HTRA2* | Htra2 | Alliance of Genome Resources | ||||
3-methylglutaconic aciduria type 9 | TIMM50* | Timm50 | Alliance of Genome Resources | ||||
combined malonic and methylmalonic acidemia | ACSF3* | Acsf3 | Alliance of Genome Resources | ||||
isovaleric acidemia | IVD* | Ivd | Alliance of Genome Resources | ||||
maple syrup urine disease | BCKDHA* | Bckdha | Alliance of Genome Resources | ||||
maple syrup urine disease | DLD* | Dld | Alliance of Genome Resources | ||||
methylmalonic acidemia cblA type | MMAA* | Mmaa | Alliance of Genome Resources | ||||
methylmalonic acidemia cblB type | MMAB* | Mmab | Alliance of Genome Resources | ||||
methylmalonic aciduria and homocystinuria type cblC | PRDX1* | Prdx1 | Alliance of Genome Resources | ||||
methylmalonic aciduria and homocystinuria type cblD | MMADHC* | Mmadhc | Alliance of Genome Resources | ||||
methylmalonic aciduria and homocystinuria type cblF | LMBRD1* | Lmbrd1 | Alliance of Genome Resources | ||||
methylmalonic aciduria and homocystinuria type cblG | MTR* | Mtr | Alliance of Genome Resources | ||||
propionic acidemia | PCCB* | Pccb | 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 | |
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Tg(Alb-Mut)#Cpv | 1 model |