| Primary Identifier | MGI:88253 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 12319 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable carbonate dehydratase activity and zinc ion binding activity. Acts upstream of or within positive regulation of calcium-mediated signaling. Located in cytoplasm. Is expressed in several structures, including alimentary system; brain; ear; genitourinary system; and respiratory system. Used to study cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 34. Orthologous to human CA8 (carbonic anhydrase 8). PHENOTYPE: Mice homozygous for a spontaneous deletion exhibit a wobbly side-to-side gait which is first noted at two weeks of age and persists throughout life. [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
