Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
![]() ![]() | isolated mitochondrial myopathy | CHCHD10* | Chchd10* | 1 model | Alliance of Genome Resources | ||
![]() | Kearns-Sayre syndrome | TFAM | Tfam* | 2 models | Alliance of Genome Resources | ||
MELAS syndrome | TRNL1 | mt-Tl1* | 1 model | Alliance of Genome Resources | |||
mitochondrial myopathy | ADCK2 | Adck2* | 1 model | Alliance of Genome Resources | |||
mitochondrial myopathy | COX10 | Cox10* | 1 model | Alliance of Genome Resources | |||
myopathy, lactic acidosis, and sideroblastic anemia | PUS1 | Pus1* | 1 model | Alliance of Genome Resources | |||
![]() | autosomal dominant progressive external ophthalmoplegia 1 | POLG* | Polg | Alliance of Genome Resources | |||
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | SLC25A4* | Slc25a4 | Alliance of Genome Resources | ||||
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | TWNK* | Twnk | Alliance of Genome Resources | ||||
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | POLG2* | Polg2 | Alliance of Genome Resources | ||||
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | RRM2B* | Rrm2b | Alliance of Genome Resources | ||||
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 | DNA2* | Dna2 | Alliance of Genome Resources | ||||
autosomal recessive progressive external ophthalmoplegia 1 | POLG* | Polg | Alliance of Genome Resources | ||||
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | RNASEH1* | Rnaseh1 | Alliance of Genome Resources | ||||
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | TK2* | Tk2 | Alliance of Genome Resources | ||||
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | DGUOK* | Dguok | Alliance of Genome Resources | ||||
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | TOP3A* | Top3a | Alliance of Genome Resources | ||||
chronic progressive external ophthalmoplegia | RRM1* | Rrm1 | Alliance of Genome Resources | ||||
chronic progressive external ophthalmoplegia | SLC25A4* | Slc25a4 | Alliance of Genome Resources | ||||
chronic progressive external ophthalmoplegia | TWNK* | Twnk | Alliance of Genome Resources | ||||
chronic progressive external ophthalmoplegia | POLG* | Polg | Alliance of Genome Resources | ||||
MELAS syndrome | COX3* | mt-Co3 | Alliance of Genome Resources | ||||
MELAS syndrome | ND5* | mt-Nd5 | Alliance of Genome Resources | ||||
MELAS syndrome | ND1* | mt-Nd1 | Alliance of Genome Resources | ||||
mitochondrial encephalomyopathy | POLG* | Polg | Alliance of Genome Resources | ||||
mitochondrial encephalomyopathy | TYMP* | Tymp | Alliance of Genome Resources | ||||
mitochondrial myopathy | DNA2* | Dna2 | Alliance of Genome Resources | ||||
mitochondrial myopathy | FDX2* | Fdx2 | Alliance of Genome Resources | ||||
mitochondrial myopathy | SLC25A4* | Slc25a4 | Alliance of Genome Resources | ||||
myopathy, lactic acidosis, and sideroblastic anemia 1 | PUS1* | Pus1 | Alliance of Genome Resources | ||||
myopathy, lactic acidosis, and sideroblastic anemia 2 | YARS2* | Yars2 | 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 | |
mitochondrial myopathy | Del(MTmt-Tk-mt-Nd5)1Jiha | 1 model |