| Primary Identifier | MGI:107588 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 14623 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Acts upstream of or within ear morphogenesis and sensory perception of sound. Located in gap junction. Is expressed in bladder; spiral ligament; urinary system; and urothelium of bladder. Used to study Clouston syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Clouston syndrome; autosomal dominant nonsyndromic deafness 3B; autosomal recessive nonsyndromic deafness 1A; autosomal recessive nonsyndromic deafness 1B; and ectodermal dysplasia. Orthologous to human GJB6 (gap junction protein beta 6). PHENOTYPE: Mice homozygous for one targeted mutation are viable and fertile but display progressive hearing loss, with severe degeneration of the auditory hair cells and loss of the endocochlear potential. Mice homozygous for a second allele display normal hearing. [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
