| Primary Identifier | MGI:95720 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 14619 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables gap junction channel activity. Involved in cell-cell signaling and gap junction-mediated intercellular transport. Acts upstream of or within gap junction assembly. Located in gap junction and plasma membrane. Part of connexin complex. Is expressed in several structures, including alimentary system; ear; genitourinary system; meninges; and skin. Used to study autosomal dominant keratitis-ichthyosis-deafness syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; nonsyndromic deafness (multiple); and palmoplantar keratoderma-deafness syndrome. Orthologous to human GJB2 (gap junction protein beta 2). PHENOTYPE: Mutant homozygotes are developmentally retarded with impaired transplacental nutrient/glucose uptake and die about embryonic day 11. Conditional mutants in inner ear are hearing impaired with cell death in cochlear epithelial network and inner hair cells. [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
