Table 3

Animal models of mitochondrial disease (adapted from Larsson and Rustin47)

TypeMouse modelGene (reference)Biochemical abnormalityPhenotype
Nuclear gene knockouts Adenosine nucleotide translocaseANT1 (48)Defect of coupled respirationMyopathy and cardiomyopathy
Mitochondrial superoxide dismutaseSOD2 (49)Mitochondrial superoxide deficiencyMyopathy and cardiomyopathy
Mitochondrial transcription factor A
    Germ lineTFAM, germ line (25)Respiratory chain defectEmbryonic lethal. Abnormal development with absence of heart and optic disc
    Heart specificTFAM, tissue specific (50)Respiratory chain defectDilated cardiomyopathy and cardiac conduction block
    Pancreatic β cell specificTFAM, tissue specific (51)Respiratory chain defectDiabetes
COX assembly protein SURF-1SURF1 (52)Respiratory chain defectEmbryonic lethality
Thymidine phosphorylaseTP (53)Reduction in liver TP activityNone
Mitochondrial DNA BALB/NZB heteroplasmicNZB/BALB mtDNA (44)NoneRandom drift during transmission. Tissue specific selection of different genotypes
Chloramphenicol resistanceCAP-R T2443C mtDNA (54)NoneMyopathy, cardiomyopathy, perinatal death
ΔmtDNA4.7 kb mtDNA deletion (46)
Spontaneous mutants Defect of nuclear–mitochondrial communicationNot known (55)NoneDeafness