| Primary Identifier | MGI:1346029 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 23985 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chloride:bicarbonate antiporter activity. Involved in regulation of pH and regulation of protein localization. Located in apical plasma membrane and brush border membrane. Is expressed in central nervous system; inner ear; and metanephros. Used to study Pendred Syndrome. Human ortholog(s) of this gene implicated in Pendred Syndrome; autosomal recessive nonsyndromic deafness 4; and goiter. Orthologous to human SLC26A4 (solute carrier family 26 member 4). PHENOTYPE: Homozygous null mutants are completely deaf with vestibular dysfunction. Mutants show endolymphatic dilatation, degeneration of sensory cells and malformations of otoconia and otoconial membranes. They display unsteady gait and circling and head bobbing. [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
