| Primary Identifier | MGI:1349410 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 110253 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity and ubiquitin protein ligase binding activity. Acts upstream of or within auditory receptor cell stereocilium organization; positive regulation of substrate adhesion-dependent cell spreading; and sensory perception of sound. Located in stereocilium base. Used to study autosomal recessive nonsyndromic deafness 28. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 28. Orthologous to human TRIOBP (TRIO and F-actin binding protein). PHENOTYPE: Mice homozygous for gene trapped alleles exhibit embryonic lethality. Mice homozygous for a targeted allele eliminating isoforms 4 and 5 exhibit profound deafness associated with stereocilia fragility and 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
