| Primary Identifier | MGI:2385186 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 229725 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chloride channel activity and identical protein binding activity. Involved in endoplasmic reticulum calcium ion homeostasis. Located in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in retinitis pigmentosa 32. Orthologous to human CLCC1 (chloride channel CLIC like 1). PHENOTYPE: Mice homozygous for a spontaneous mutation show strain-dependent cerebellar granule cell death and peripheral motor axon degeneration. The peripheral neuropathy, neurogenic muscular atrophy and mild truncal ataxia observed on the C57BL/6J background are not found on the C3H/HeSnJ background. [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
