| Primary Identifier | MGI:98352 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 20656 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables superoxide dismutase activity. Acts upstream of or within several processes, including acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure; apoptotic signaling pathway; and regulation of cellular biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Used to study Canavan disease; Leigh disease; amyotrophic lateral sclerosis type 1; congestive heart failure; and dilated cardiomyopathy. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); autoimmune disease (multiple); cardiomyopathy (multiple); liver disease (multiple); and optic nerve disease (multiple). Orthologous to human SOD2 (superoxide dismutase 2). PHENOTYPE: Mutations affect mitochondrial function. Null homozygotes die early with cardiomyopathy, tissue lipid accumulation, neurodegeneration, motor problems and/or metabolic acidosis depending on strain background. Heterozygotes show mitochondria and apoptosis defects with age. Inducible retina-specific conditional KO results in retinal atrophy. [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
