| Primary Identifier | MGI:1929293 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 56506 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables calcium ion binding activity and integrin binding activity. Involved in calcium ion homeostasis and photoreceptor cell maintenance. Located in several cellular components, including muscle tendon junction; photoreceptor inner segment; and sarcolemma. Is expressed in several structures, including brain; gut; inner ear; integumental system; and skeletal musculature. Used to study autosomal recessive nonsyndromic deafness 48. Human ortholog(s) of this gene implicated in Usher syndrome type 1J and autosomal recessive nonsyndromic deafness 48. Orthologous to human CIB2 (calcium and integrin binding family member 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal vestibular and retinal function but show an early onset profound deafness associated with abolished mechanoelectrical transduction currents and progressive postnatal degeneration of cochlear hair bundles. [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
