| Primary Identifier | MGI:2686271 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 403187 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Acts upstream of or within several processes, including bone development; fat cell differentiation; and neuromuscular process. Located in mitochondrion. Is expressed in several structures, including eye; jaw; musculoskeletal system; optic nerve; and salivary gland. Used to study 3-methylglutaconic aciduria type 3. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 3 and optic atrophy 3. Orthologous to human OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3). PHENOTYPE: Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects. [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
