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Protein Coding Gene : Cdh23 cadherin 23 (otocadherin)

Primary Identifier  MGI:1890219 Organism  Mus musculus
Chromosome  10 NCBI Gene Number  22295
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 5.2.2)

Predicted to enable cadherin binding activity; calcium ion binding activity; and protein N-terminus binding activity. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; righting reflex; and sensory perception of sound. Located in several cellular components, including kinocilium; photoreceptor inner segment; and stereocilium tip. Is active in cochlear hair cell ribbon synapse and photoreceptor ribbon synapse. Is expressed in several structures, including brain; genitourinary system; lung; sensory organ; and thymus. Used to study Usher syndrome type 1D and autosomal recessive nonsyndromic deafness 12. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 12; and pituitary adenoma 5. Orthologous to human CDH23 (cadherin related 23).
PHENOTYPE: Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology. [provided by MGI curators]
  • synonyms:
  • USH1D,
  • bustling,
  • bob,
  • 4930542A03Rik,
  • MGI:98921,
  • sals,
  • bobby,
  • MGI:2663822,
  • MGI:3032504,
  • mdfw,
  • cadherin 23 (otocadherin),
  • MGI:87972,
  • Cdh23,
  • salsa,
  • MGD-MRK-15378,
  • waltzer,
  • MGI:1914900,
  • MGD-MRK-1686,
  • v,
  • neuroscience mutagenesis facility, 112,
  • MGI:2680535,
  • nmf181,
  • MGI:88186,
  • ahl,
  • bus,
  • MGD-MRK-1223,
  • MGI:1202391,
  • MGI:3708134,
  • age related hearing loss 1,
  • neuroscience mutagenesis facility, 181,
  • nmf252,
  • nmf112,
  • modifier of deaf waddler,
  • neuroscience mutagenesis facility, 252,
  • RIKEN cDNA 4930542A03 gene,
  • MGI:88219,
  • MGD-MRK-1608

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 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

0 Pathways

182 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications