| Primary Identifier | MGI:3576659 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 233246 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable chloride channel activity. Predicted to be involved in chloride transmembrane transport and plasma membrane repair. Located in vesicle. Is expressed in several structures, including heart; limb; musculoskeletal system; perichondrium; and somite. Used to study autosomal recessive limb-girdle muscular dystrophy type 2L and gnathodiaphyseal dysplasia. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 3; autosomal recessive limb-girdle muscular dystrophy type 2L; gnathodiaphyseal dysplasia; and isolated elevated serum creatine phosphokinase levels. Orthologous to human ANO5 (anoctamin 5). PHENOTYPE: One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility. [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
