| 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 9.1.0) Predicted to enable several functions, including GTP binding activity; enzyme binding activity; and identical protein binding activity. Involved in positive regulation of cold-induced thermogenesis and type 2 mitophagy. Acts upstream of or within blastocyst formation; camera-type eye morphogenesis; and mitochondrial fusion. Located in microtubule cytoskeleton and mitochondrion. Is expressed in several structures, including blastocyst-stage conceptus; early embryo; eye; oocyte; and tibialis anterior. Used to study Charcot-Marie-Tooth disease type 2A2A. 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. Mice carrying the p.R707W lipodystrophy-associated mutation present with fat cell mitochondrial phenotypes. [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
