Primary Identifier | MGI:98351 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 20655 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables superoxide dismutase activity. Involved in axonal transport; negative regulation of inflammatory response; and positive regulation of phagocytosis. Acts upstream of or within several processes, including action potential initiation; determination of adult lifespan; and neurogenesis. Located in extracellular space. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study amyotrophic lateral sclerosis type 1; dry eye syndrome; and low tension glaucoma. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; artery disease (multiple); eye disease (multiple); glucose metabolism disease (multiple); and neurodegenerative disease (multiple). Orthologous to human SOD1 (superoxide dismutase 1). PHENOTYPE: Homozygous mutants exhibit increased motor neuron loss after axonal injury and enhanced susceptibility to ischemic reperfusion injury. Homozygous females have irregular and small litters, and for some alleles exhibit immature ovarian follicles with few corpora lutea. Homozygous KO also causes progressive age-related retinal degeneration. [provided by MGI curators] |