Table II.
Mousel models of Complex II, Complex III and electron carrier deficiencies.
| Gene | Mitochondrial function |
Genetic Manipulation |
Phenotype | References |
|---|---|---|---|---|
| Sdhd | Subunit of CII associated with paraganglioma tumors |
Knockout: -Whole body (replacement of exons 2–4) |
Embryonic lethality | (Piruat, 2004) |
| Knockout: -Whole body (deletion of exon 3) |
Embryonic lethality | (Bayley, 2009) | ||
| Pdss2 | Biosynthesis of Coenzyme Q |
Spontaneous mutation in Pdss2 in homozygosis |
Renal disease, abnormal mitochondria |
(Hallman, 2006) |
| Conditional Knockout: - Kidney (Podocin-Cre) |
Nephropathy and proteinuria |
(Peng, 2008) | ||
| Conditional Knockout: - Liver (Alb-Cre) |
No overt phenotype | |||
| Spontaneous mutation in Pdss2 in homozygosis |
Renal failure, increased oxidative stress, mitochondrial DNA depletion, and reduced citrate synthase activity in kidney and muscle |
(Quinzii, 2013) | ||
| Coq9 | Biosynthesis of Coenzyme Q |
Knock-in: 239R>X |
Encephalomyopathy with astrogliosis and neuronal death |
(Garcia-Corzo, 2013) |
| Bcs1l | CIII assembly factor (last steps of assembly of CIII) |
Knock-in: 232A>G |
Hepatopathy and tubolopathy characteristic of GRACILE syndrome |
(Leveen, 2011) |
| CycS | Cytochrome c somatic isoform |
Knockout: - whole body (replacement of 2 exons) |
Embryonic lethal. Developmental delay at E8.5. No viable embryos after E10.5 |
(Li, 2000) |
| Knock-in: K72A | Abnormal brain development (exencephaly and hydrocephaly), cachexia and lymphopenia |
(Hao, 2005) | ||
| CycT | Cytochrome c testis isoform |
Disruption of exon 3 | Testicular atrophy due to accelerated apoptosis Decreased sperm motility however mice are fertile. |
(Narisawa, 2002) |
| Uqcrfs1 | Rieske iron sulfur protein (RISP), one of the catalytic subunits of CIII |
Conditional Knockout: -Neurons (CaMKII-Cre) |
Fatal encephalopathy with severe oxidative stress in piriform cortex |
(Diaz, 2012) |
| Knock-in: 224P>S | Embryonic lethality in homozygosis. Mild reduction in CIII activity and no apparent phenotype in heterozygous mouse |
(Hughes and Hekimi, 2011) |