| Primary Identifier | MGI:1921393 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 74143 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTPase-dependent fusogenic activity. Involved in several processes, including inner mitochondrial membrane organization; negative regulation of apoptotic signaling pathway; and positive regulation of T-helper 17 cell lineage commitment. Acts upstream of or within neural tube closure. Located in dendrite; mitochondrial inner membrane; and mitochondrial intermembrane space. Is expressed in several structures, including early conceptus; heart; liver; lung; and visual system. Used to study optic atrophy. Human ortholog(s) of this gene implicated in Behr syndrome; dominant optic atrophy plus syndrome; mitochondrial DNA depletion syndrome 14; optic atrophy; and optic atrophy 1. Orthologous to human OPA1 (OPA1 mitochondrial dynamin like GTPase). PHENOTYPE: Mice homozygous for an ENU mutation exhibit embryonic lethality, embryonic growth retardation and morphological abnormalities. Mice heterozygous for an ENU mutation exhibit abnormal cellular morphology, altered optic nerve myelination, abnormal response to a new environment and decreased vision. [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
