| Primary Identifier | MGI:102504 | Organism | mouse, laboratory |
| Chromosome | MT | NCBI Gene Number | 17708 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytochrome-c oxidase activity. Predicted to be involved in aerobic respiration; respiratory electron transport chain; and response to oxidative stress. Part of respiratory chain complex IV. Is active in mitochondrial inner membrane. Is expressed in several structures, including brain; brown fat; liver; musculature; and stomach. Orthologous to human MT-CO1 (mitochondrially encoded cytochrome c oxidase I). PHENOTYPE: Transmitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in this gene show growth retardation, reduced COX activity in cardiac cells, increased blood lactate levels, mitochondrial myopathy, heart inflammation and edema, abnormal bloodvessel morphology, and severe cardiomyopathy. [provided by MGI curators] |