| Primary Identifier | MGI:2682003 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 73750 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables identical protein binding activity. Involved in several processes, including detection of mechanical stimulus involved in sensory perception of sound; nervous system development; and paranodal junction maintenance. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; positive regulation of gene expression; and sensory perception of sound. Located in several cellular components, including cytoskeleton; periciliary membrane compartment; and photoreceptor connecting cilium. Part of USH2 complex and stereocilia ankle link complex. Is expressed in several structures, including central nervous system; cervical intervertebral disc; forelimb bud; sensory organ; and thymus. Used to study Usher syndrome type 2D and autosomal recessive nonsyndromic deafness 31. Human ortholog(s) of this gene implicated in Usher syndrome type 2D; autosomal recessive nonsyndromic deafness 31; and sensorineural hearing loss. Orthologous to human WHRN (whirlin). PHENOTYPE: Spontaneous mutants lacking both isoforms show short stereocilia, severe deafness and vestibular deficits. Targeted homozygotes lacking the long form show altered OHC stereocilia bundles but a milder phenotype with normal stereocilia in IHCs and a subset of vestibular HCs and no vestibular deficits. [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
