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Protein Coding Gene : Strc stereocilin

Primary Identifier  MGI:2153816 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  140476
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Involved in auditory receptor cell stereocilium organization. Acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound. Located in kinocilium and stereocilium tip. Is expressed in cochlea; inner ear; semicircular duct ampulla; tectorial membrane; and utricle epithelium. Used to study autosomal recessive nonsyndromic deafness 16. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 16 and sensorineural hearing loss. Orthologous to several human genes including STRC (stereocilin).
PHENOTYPE: Mice homozygous for a null allele exhibit progressive hearing loss from P15 with abnormal cochlear outer hair cell stereociliary bundle morphology. [provided by MGI curators]
  • synonyms:
  • Strc,
  • DFNB16,
  • stereocilin

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

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

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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