Excel File Text File *Disease is associated/modeled with this Gene or a homolog. More...
      Disease Term Human Homologs Mouse Homologs Mouse Models Homology Source
     autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 TWNK* Twnk* 2 models Alliance of Genome Resources
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 COX10 Cox10* 1 model Alliance of Genome Resources
mitochondrial myopathy ADCK2 Adck2* 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 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 TWNK* Twnk   Alliance of Genome Resources
chronic progressive external ophthalmoplegia SLC25A4* Slc25a4   Alliance of Genome Resources
chronic progressive external ophthalmoplegia RRM1* Rrm1   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 SLC25A4* Slc25a4   Alliance of Genome Resources
mitochondrial myopathy FDX2* Fdx2   Alliance of Genome Resources
mitochondrial myopathy DNA2* Dna2   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.
     Disease Term Transgenes and Other Genome Features Mouse Models
  autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Tg(ACTB-Twnk*A360T)HSuom 1 model
  autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Tg(ACTB-Twnk*)DSuom 1 model
  mitochondrial myopathy Del(MTmt-Tk-mt-Nd5)1Jiha 1 model