Primary Identifier | MGI:1913944 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 66694 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable oxidoreductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of respiratory chain complex III. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; cardiovascular system; hemolymphoid system; and liver. Used to study mitochondrial metabolism disease. Human ortholog(s) of this gene implicated in mitochondrial complex III deficiency. Orthologous to several human genes including UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1). PHENOTYPE: Mutant mice harboring a 3' UTR insertion that reduces expression specifically in skin acquire dark patches in the dorsal brown coat at 4-7 months of age. In heterozygotes, the dark patches eventually fill the entire dorsal region; in homozygotes, the dark patches eventually turn grey. [provided by MGI curators] |