| 67426 | Q60936 | COQ8A_MOUSE | Atypical kinase COQ8A, mitochondrial (EC 2.7.-.-) (Chaperone activity of bc1 complex-like) (Chaperone-ABC1-like) (Coenzyme Q protein 8A) (aarF domain-containing protein kinase 3) | DISRUPTION PHENOTYPE | Mice were born at the expected Mendelian frequency and do not show overt phenotype under normal conditions. They however develop a slowly progressive loss of coordination after birth and develop ataxia and seizures. Defects are due to dysfunctional cerebellar Purkinje cells and defective skeletal muscle. Mice display tissue-specific coenzyme Q deficiency: coenzyme Q levels are normal in younger mice but significantly and specifically reduced in skeletal muscle. However, normal coenzyme Q levels are observed in whole cerebella, suggesting that cerebellar Purkinje cells are specifically affected. {ECO:0000269|PubMed:27499294}. |