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Cdh23 Gene Detail
Summary
  • Symbol
    Cdh23
  • Name
    cadherin 23 (otocadherin)
  • Synonyms
    4930542A03Rik, ahl, bob, mdfw, nmf112, nmf181, nmf252, sals, USH1D
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890219
    NCBI Gene: 22295
  • Gene Overview
    MyGene.info: CDH23
Location & Maps
more
  • Sequence Map
    Chr10:60302748-60696490 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      393743 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 30.11 cM
  • Mapping Data
    44 experiments
Homology
more
  • Human Ortholog
    CDH23, cadherin related 23
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CDH23, cadherin related 23
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDHR23, USH1D
  • Links
    NCBI Gene ID: 64072
    neXtProt AC: NX_Q9H251

  • Chr Location
    10q22.1; chr10:71396934-71815947 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 11142
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: CDH23
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Cdh23 mouse models; 2 with human CDH23 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 12; DFNB12   OMIM: 601386 View 3 models
Usher Syndrome, Type ID; USH1D   OMIM: 601067 View 11 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    14 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    88 phenotypes from 23 alleles in 30 genetic backgrounds
    15 phenotypes from multigenic genotypes
    3 images
    101 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    34
  • Chemically induced (ENU)
    7
  • Chemically induced (other)
    2
  • Gene trapped
    2
  • QTL
    3
  • Radiation induced
    1
  • Spontaneous
    12
  • Targeted
    7
  • Genomic Mutations
    2 involving Cdh23
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017511 VEGA Gene Model | MGI Sequence Detail 393743 C57BL/6J ±  kb
transcript OTTMUST00000042527 VEGA | MGI Sequence Detail 10688 Not Applicable  
polypeptide OTTMUSP00000019115 VEGA | MGI Sequence Detail 3353 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3080 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 24
    Genomic 3
    cDNA 16
    Primer pair 5

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-1223, MGD-MRK-15378, MGD-MRK-1608, MGD-MRK-1686, MGI:1202391, MGI:1914900, MGI:2663822, MGI:2680535, MGI:3032504, MGI:3708134, MGI:87972, MGI:88186, MGI:88219, MGI:98921
References
more
  • Summaries
    All 164
    Developmental Gene Expression 12
    Diseases 6
    Gene Ontology 36
    Phenotypes 101
  • Earliest
    J:300 Snell GD, Linkage of jittery and waltzing in the mouse. J Hered. 1945;36:279-80
  • Latest
    J:231160 Hu J, et al., Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice. Neuroscience. 2016 Mar 1;316:311-20

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory