Animal models of mitochondrial disease (adapted from Larsson and Rustin47)
| Type | Mouse model | Gene (reference) | Biochemical abnormality | Phenotype |
|---|---|---|---|---|
| Nuclear gene knockouts | Adenosine nucleotide translocase | ANT1 (48) | Defect of coupled respiration | Myopathy and cardiomyopathy |
| Mitochondrial superoxide dismutase | SOD2 (49) | Mitochondrial superoxide deficiency | Myopathy and cardiomyopathy | |
| Mitochondrial transcription factor A | ||||
| Germ line | TFAM, germ line (25) | Respiratory chain defect | Embryonic lethal. Abnormal development with absence of heart and optic disc | |
| Heart specific | TFAM, tissue specific (50) | Respiratory chain defect | Dilated cardiomyopathy and cardiac conduction block | |
| Pancreatic β cell specific | TFAM, tissue specific (51) | Respiratory chain defect | Diabetes | |
| COX assembly protein SURF-1 | SURF1 (52) | Respiratory chain defect | Embryonic lethality | |
| Thymidine phosphorylase | TP (53) | Reduction in liver TP activity | None | |
| Mitochondrial DNA | BALB/NZB heteroplasmic | NZB/BALB mtDNA (44) | None | Random drift during transmission. Tissue specific selection of different genotypes |
| Chloramphenicol resistance | CAP-R T2443C mtDNA (54) | None | Myopathy, cardiomyopathy, perinatal death | |
| ΔmtDNA | 4.7 kb mtDNA deletion (46) | |||
| Spontaneous mutants | Defect of nuclear–mitochondrial communication | Not known (55) | None | Deafness |