| Primary Identifier | MGI:1914071 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 66821 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP hydrolysis activity. Acts upstream of or within mitochondrial respiratory chain complex III assembly. Located in mitochondrion. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; nervous system; and sensory organ. Used to study GRACILE syndrome and mitochondrial complex III deficiency nuclear type 1. Human ortholog(s) of this gene implicated in Bjornstad syndrome; GRACILE syndrome; and mitochondrial complex III deficiency nuclear type 1. Orthologous to human BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). PHENOTYPE: Mice homozygous for a knock-out allele show decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and headfolds, failure to gastrulate, and complete embryonic lethality by E9.5. Homozygotes for a knock-in allele die prematurely with growth failure, liver glycogen depletion, steatosis, fibrosis and cirrhosis, renal tubulopathy and impaired mitochondrial respiration. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
