| Primary Identifier | MGI:2442230 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 170731 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including GTP binding activity; GTPase activity; and enzyme binding activity. Involved in mitochondrial fusion; parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization; and positive regulation of cold-induced thermogenesis. Acts upstream of or within blastocyst formation and camera-type eye morphogenesis. Located in microtubule cytoskeleton and mitochondrion. Is expressed in several structures, including brain; early conceptus; eye; heart; and oocyte. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 2A2A; Charcot-Marie-Tooth disease type 2A2B; Charcot-Marie-Tooth disease type 6; and multiple symmetric lipomatosis. Orthologous to human MFN2 (mitofusin 2). PHENOTYPE: Mice homozygous for disruptions in this gene die in mid-gestation. Structural and functional abnormalities of mitochondria are reported. Mice homozygous for a conditional allele in male germ cells exhibit small testes with abnormal sperm flagellum, aggregation of mitochondria, and disrupted male meiosis. [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
