Version: 8.0.0
Date: Tue Jan 28 2025
Cdh23
Mus musculusMGI:1890219
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Cdh23

Species
Mus musculus
Symbol
Cdh23
Name
cadherin related 23 (otocadherin)
Synonyms
  • 4930542A03Rik
  • age related hearing loss 1
Biotype
protein coding gene
Automated Description
Predicted to enable beta-catenin binding activity and cadherin binding activity. Acts upstream of or within several processes, including inner ear development; 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; hemolymphoid system gland; liver; and sensory organ. 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).
MGI Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24027
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Cdh23 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
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            Genetic Interactions

            Cdh23 role
            Cdh23 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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