| Primary Identifier | MGI:2153465 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 140475 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chloride channel regulator activity. Contributes to chloride channel activity. Involved in sensory perception of sound. Located in basolateral plasma membrane. Part of protein-containing complex. Is expressed in central nervous system; inner ear; and metanephros. Used to study Bartter disease type 4a. Human ortholog(s) of this gene implicated in Bartter disease; Bartter disease type 4a; and sensorineural hearing loss. Orthologous to human BSND (barttin CLCNK type accessory subunit beta). PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration. [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
