| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
  | 2-aminoadipic 2-oxoadipic aciduria | DHTKD1* | Dhtkd1* | 1 model | Alliance of Genome Resources | ||
| 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 | |||
| alkaptonuria | HGD* | Hgd* | 2 models | Alliance of Genome Resources | |||
| argininosuccinic aciduria | ASL* | Asl* | 2 models | Alliance of Genome Resources | |||
| Barth syndrome | TAFAZZIN* | Tafazzin* | 3 models | Alliance of Genome Resources | |||
| BH4-deficient hyperphenylalaninemia A | PTS* | Pts* | 2 models | Alliance of Genome Resources | |||
| BH4-deficient hyperphenylalaninemia B | GCH1* | Gch1* | 1 model | Alliance of Genome Resources | |||
| biotinidase deficiency | BTD* | Btd* | 1 model | Alliance of Genome Resources | |||
| branched-chain keto acid dehydrogenase kinase deficiency | BCKDK* | Bckdk* | 1 model | Alliance of Genome Resources | |||
| Brunner Syndrome | MAOA* | Maoa* | 2 models | Alliance of Genome Resources | |||
| carbamoyl phosphate synthetase I deficiency disease | CPS1* | Cps1* | 1 model | Alliance of Genome Resources | |||
| cerebral creatine deficiency syndrome 1 | SLC6A8* | Slc6a8* | 5 models | Alliance of Genome Resources | |||
| citrullinemia | ASS1* | Ass1* | 6 models | Alliance of Genome Resources | |||
| cystathioninuria | CTH* | Cth* | 1 model | Alliance of Genome Resources | |||
| cystinuria | SLC3A1* | Slc3a1* | 4 models | Alliance of Genome Resources | |||
| cystinuria | SLC7A9* | Slc7a9* | 2 models | Alliance of Genome Resources | |||
| dicarboxylic aminoaciduria | SLC1A1* | Slc1a1* | 1 model | Alliance of Genome Resources | |||
| diphthamide deficiency syndrome 1 | DPH1* | Dph1* | 1 model | Alliance of Genome Resources | |||
| glutaric acidemia I | GCDH* | Gcdh* | 2 models | Alliance of Genome Resources | |||
| glycine encephalopathy | GLDC* | Gldc* | 1 model | Alliance of Genome Resources | |||
| glycine N-methyltransferase deficiency | GNMT* | Gnmt* | 2 models | Alliance of Genome Resources | |||
| guanidinoacetate methyltransferase deficiency | GAMT* | Gamt* | 1 model | Alliance of Genome Resources | |||
| Hartnup disease | SLC6A19* | Slc6a19* | 1 model | Alliance of Genome Resources | |||
| HMG-CoA synthase 2 deficiency | HMGCS2* | Hmgcs2* | 2 models | Alliance of Genome Resources | |||
| homocystinuria | CBS* | Cbs* | 4 models | Alliance of Genome Resources | |||
| hyperargininemia | ARG1* | Arg1* | 1 model | Alliance of Genome Resources | |||
| hyperhomocysteinemia | CBS* | Cbs* | 2 models | Alliance of Genome Resources | |||
| L-2-hydroxyglutaric aciduria | L2HGDH* | L2hgdh* | 1 model | Alliance of Genome Resources | |||
| lysinuric protein intolerance | SLC7A7* | Slc7a7* | 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 | |||
| maple syrup urine disease | BCKDHB* | Bckdhb* | 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 | |||
| ornithine carbamoyltransferase deficiency | OTC* | Otc* | 8 models | Alliance of Genome Resources | |||
| phenylketonuria | PAH* | Pah* | 4 models | Alliance of Genome Resources | |||
| propionic acidemia | PCCA* | Pcca* | 2 models | Alliance of Genome Resources | |||
| systemic primary carnitine deficiency disease | SLC22A5* | Slc22a5*, Slc22a21 | 1 model | Alliance of Genome Resources | |||
| tyrosinemia type I | FAH* | Fah* | 4 models | Alliance of Genome Resources | |||
| tyrosinemia type III | HPD* | Hpd* | 1 model | 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 | |||
| glycine encephalopathy | SLC6A9 | Slc6a9* | 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 | |||
| phenylketonuria | hph1* | 1 model | |||||
| phenylketonuria | HNF1A | Hnf1a* | 1 model | Alliance of Genome Resources | |||
| sarcosinemia | sar* | 1 model | |||||
| | 2-hydroxyglutaric aciduria | L2HGDH* | L2hgdh | Alliance of Genome Resources | |||
| 2-hydroxyglutaric aciduria | SLC25A1* | Slc25a1 | Alliance of Genome Resources | ||||
| 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL* | Hmgcl | Alliance of Genome Resources | ||||
| 3-hydroxyisobutryl-CoA hydrolase deficiency | HIBCH* | Hibch | Alliance of Genome Resources | ||||
| 3-methylcrotonyl-CoA carboxylase 1 deficiency | MCCC1* | Mccc1 | Alliance of Genome Resources | ||||
| 3-methylcrotonyl-CoA carboxylase 2 deficiency | MCCC2* | Mccc2 | 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 | ||||
| adenylosuccinase lyase deficiency | ADSL* | Adsl | Alliance of Genome Resources | ||||
| adult-onset type II citrullinemia | SLC25A13* | Slc25a13 | Alliance of Genome Resources | ||||
| AGAT deficiency | GATM* | Gatm | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | HMGCL* | Hmgcl | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | SLC25A15* | Slc25a15 | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | PRODH* | Prodh | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | PHGDH* | Phgdh | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | PCCB* | Pccb | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | PCCA* | Pcca | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | NAGS* | Nags | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | IVD* | Ivd | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | GAMT* | Gamt | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | CTH* | Cth | Alliance of Genome Resources | ||||
| amino acid metabolic disorder | ASL* | Asl | Alliance of Genome Resources | ||||
| beta-ketothiolase deficiency | ACAT1* | Acat1 | Alliance of Genome Resources | ||||
| BH4-deficient hyperphenylalaninemia C | QDPR* | Qdpr | Alliance of Genome Resources | ||||
| BH4-deficient hyperphenylalaninemia D | PCBD1* | Pcbd1 | Alliance of Genome Resources | ||||
| citrullinemia | SLC25A15* | Slc25a15 | Alliance of Genome Resources | ||||
| classic citrullinemia | ASS1* | Ass1 | Alliance of Genome Resources | ||||
| combined D-2- and L-2-hydroxyglutaric aciduria | SLC25A1* | Slc25a1 | Alliance of Genome Resources | ||||
| combined malonic and methylmalonic acidemia | ACSF3* | Acsf3 | Alliance of Genome Resources | ||||
| congenital glutamine deficiency | GLUL* | Glul | Alliance of Genome Resources | ||||
| D-2-hydroxyglutaric aciduria 1 | D2HGDH* | D2hgdh | Alliance of Genome Resources | ||||
| D-2-hydroxyglutaric aciduria 2 | IDH2* | Idh2 | Alliance of Genome Resources | ||||
| developmental and epileptic encephalopathy 116 | GLUL* | Glul | Alliance of Genome Resources | ||||
| dimethylglycine dehydrogenase deficiency | DMGDH* | Dmgdh | Alliance of Genome Resources | ||||
| diphthamide deficiency syndrome 2 | DPH2* | Dph2 | Alliance of Genome Resources | ||||
| familial hypertryptophanemia | TDO2* | Tdo2 | Alliance of Genome Resources | ||||
| fumarase deficiency | FH* | Fh1 | Alliance of Genome Resources | ||||
| GABA aminotransferase deficiency | ABAT* | Abat | Alliance of Genome Resources | ||||
| gamma-glutamyl transpeptidase deficiency | GGT1*, GGT2P, GGT3P, GGTLC1, GGTLC2, GGTLC3 | Ggt1 | Alliance of Genome Resources | ||||
| glutamate-cysteine ligase deficiency | GCLC* | Gclc | Alliance of Genome Resources | ||||
| glutathione synthetase deficiency | GSS* | Gss | Alliance of Genome Resources | ||||
| glutathione synthetase deficiency of erythrocytes | GSS* | Gss | Alliance of Genome Resources | ||||
| glutatione synthetase deficiency with 5-oxoprolinuria | GSS* | Gss | Alliance of Genome Resources | ||||
| glycine encephalopathy | AMT* | Amt | Alliance of Genome Resources | ||||
| hawkinsinuria | HPD* | Hpd | Alliance of Genome Resources | ||||
| histidinemia | HAL* | Hal | Alliance of Genome Resources | ||||
| holocarboxylase synthetase deficiency | HLCS* | Hlcs | Alliance of Genome Resources | ||||
| homocystinuria | MTRR* | Mtrr | Alliance of Genome Resources | ||||
| homocystinuria-megaloblastic anemia cblE type | MTRR* | Mtrr | Alliance of Genome Resources | ||||
| hydroxykynureninuria | KYNU* | Kynu | Alliance of Genome Resources | ||||
| hyperhomocysteinemia | MTHFR* | Mthfr | Alliance of Genome Resources | ||||
| hyperhomocysteinemia | MTR* | Mtr | Alliance of Genome Resources | ||||
| hyperlysinemia | AASS* | Aass | Alliance of Genome Resources | ||||
| hypermethioninemia | MAT1A* | Mat1a | Alliance of Genome Resources | ||||
| hypermethioninemia due to adenosine kinase deficiency | ADK* | Adk | Alliance of Genome Resources | ||||
| hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AHCY* | Ahcy, Ahcyl | Alliance of Genome Resources | ||||
| hyperprolinemia type 1 | PRODH* | Prodh | Alliance of Genome Resources | ||||
| hyperprolinemia type 2 | ALDH4A1* | Aldh4a1 | Alliance of Genome Resources | ||||
| hypervalinemia and hyperleucine-isoleucinemia | BCAT2* | Bcat2 | Alliance of Genome Resources | ||||
| isovaleric acidemia | IVD* | Ivd | Alliance of Genome Resources | ||||
| leucine-sensitive hypoglycemia of infancy | ABCC8* | Abcc8 | 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 | ||||
| mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | ECHS1* | Echs1 | Alliance of Genome Resources | ||||
| N-acetylglutamate synthase deficiency | NAGS* | Nags | Alliance of Genome Resources | ||||
| neonatal-onset type II citrullinemia | SLC25A13* | Slc25a13 | Alliance of Genome Resources | ||||
| Neu-Laxova syndrome 1 | PHGDH* | Phgdh | Alliance of Genome Resources | ||||
| Neu-Laxova syndrome 2 | PSAT1* | Psat1 | Alliance of Genome Resources | ||||
| neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | SHMT2* | Shmt2 | Alliance of Genome Resources | ||||
| neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | DPH5* | Dph5 | Alliance of Genome Resources | ||||
| neurodevelopmental disorder with spastic paraplegia and microcephaly | GPT2* | Gpt2 | Alliance of Genome Resources | ||||
| ornithine translocase deficiency | SLC25A15* | Slc25a15 | Alliance of Genome Resources | ||||
| oxoglutarate dehydrogenase deficiency | OGDH* | Ogdh | Alliance of Genome Resources | ||||
| pentosuria | DCXR* | Dcxr | Alliance of Genome Resources | ||||
| phenylketonuria | QDPR* | Qdpr | Alliance of Genome Resources | ||||
| phenylketonuria | PTS* | Pts | Alliance of Genome Resources | ||||
| PHGDH deficiency | PHGDH* | Phgdh | Alliance of Genome Resources | ||||
| prolidase deficiency | PEPD* | Pepd | Alliance of Genome Resources | ||||
| propionic acidemia | PCCB* | Pccb | Alliance of Genome Resources | ||||
| PSAT deficiency | PSAT1* | Psat1 | Alliance of Genome Resources | ||||
| PSPH deficiency | PSPH* | Psph | Alliance of Genome Resources | ||||
| sarcosinemia | SARDH* | Sardh | Alliance of Genome Resources | ||||
| succinic semialdehyde dehydrogenase deficiency | ALDH5A1* | Aldh5a1 | Alliance of Genome Resources | ||||
| tyrosinemia | TAT* | Tat | Alliance of Genome Resources | ||||
| tyrosinemia type II | TAT* | Tat | Alliance of Genome Resources | ||||
| urocanase deficiency | UROC1* | Uroc1 | 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 | |
| methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | Tg(Alb-Mut)#Cpv | 1 model | |