| Primary Identifier | MGI:2445168 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 232089 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable GTPase activator activity. Acts upstream of or within several processes, including cilium assembly; inner ear receptor cell development; and sensory perception of sound. Is active in Golgi apparatus and cilium. Is expressed in cerebral cortex; cerebral cortex ventricular layer; cortical plate; hindbrain; and olfactory epithelium. Used to study autosomal recessive nonsyndromic deafness 88. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness and autosomal recessive nonsyndromic deafness 88. Orthologous to human ELMOD3 (ELMO domain containing 3). PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss and abnormalities in cochlear hair cell stereocilia. [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
