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Cdh23
Gene Detail
Symbol

Name
ID
Cdh23
cadherin 23 (otocadherin)
MGI:1890219
Synonyms
4930542A03Rik, ahl, bob, mdfw, nmf112, nmf181, nmf252, sals, USH1D
Feature Type
protein coding gene
Genetic Map
Chromosome 10
30.11 cM
Detailed Genetic Map ± 1 cM


Mapping data(44)
Sequence Map
Chr10:60302748-60696490 bp, - strand
From VEGA annotation of GRCm38

  393743 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11142  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Cdh23

Human
homologs
Human Homolog CDH23, cadherin-related 23
NCBI Gene ID 64072
neXtProt AC  NX_Q9H251
Human Synonyms  CDHR23, USH1D
Human Chr (Location)  10q22.1; chr10:71396934-71815947 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human CDH23
Mutations,
alleles, and
phenotypes
All mutations/alleles(31) : Chemically induced (ENU)(7) Chemically induced (other)(1) Gene trapped(2) QTL(3) Spontaneous(12) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Cdh23 (2)    Alleles Annotated to Human Diseases(14)    Phenotype Images(3)
Interactions
Cdh23 interacts with 167 markers (Mir7-1, Mir10a, Mir10b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (58 annotations)
Process adult locomotory behavior, auditory receptor cell differentiation, ...
Component apical part of cell, centrosome, ...
Function calcium ion binding, metal ion binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (72)    Tissues (25)    Images (21)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 38
RT-PCR 33
cDNA source data(16)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(24) Genomic(3) cDNA(16) Primer pair(5)
Microarray probesets(3)
Other database
links
Sequences
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 sequences
All sequences(131) RefSeq(30) UniProt(25)
Polymorphisms
SNPs within 2kb(3083 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002126 Cadherin
InterPro IPR020894 Cadherin conserved site
InterPro IPR015919 Cadherin-like
Protein Ontology PR:000005240 cadherin-23
References
(Earliest) J:300 Snell GD, Linkage of jittery and waltzing in the mouse. J Hered. 1945;36:279-80
(Latest) J:212101 Kamiya K, et al., An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells. Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9307-12
All references(157)
Disease annotation references (4)
Other
accession IDs
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

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
12/09/2014
MGI 5.20
The Jackson Laboratory