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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

HCOP human homology predictions: CDH23
Gene Tree: Cdh23

Human
homologs
CDH23, cadherin-related 23
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 64072
neXtProt AC: NX_Q9H251

Human Synonyms: CDHR23, USH1D

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

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 , CvDC )
 
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 in Mice Using Cdh23 (2)    Mutations Annotated to Human Diseases (14)    Phenotype Images(3)
Interactions
Cdh23 interacts with 166 markers (Mir7-1, Mir10a, Mir10b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (59 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA CDH23 ; Xenbase cdh23    NEW 
Molecular
reagents
All nucleic(24) Genomic(3) cDNA(16) Primer pair(5)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000017511 (Evidence)
Ensembl Gene Model ENSMUSG00000012819 (Evidence)
Entrez Gene 22295 (Evidence)
UniGene 440327
DFCI TC1768923, TC1699250, TC1658923, TC1599463, TC1594862, TC1613099
DoTS DT.91334000, DT.55182731, DT.91333999, DT.40164248, DT.110590871, DT.110590835, DT.110590573, DT.110590659, DT.110590545, DT.110590411, DT.91398674, DT.97381184
NIA Mouse Gene Index U031830
PDB 2WHV, 2WCP, 2WBX, 4APX, 3MVS, 4AXW, 4AQA, 4AQE, 4AQ8, 2WD0
Consensus CDS Project CCDS56704.1
International Mouse Phenotyping Consortium Status Cdh23
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(104) RefSeq(15) UniProt(13)
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:219993 Nagtegaal AP, et al., Cockayne syndrome group B (csb) and group a (csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. J Neurosci. 2015 Mar 11;35(10):4280-6
All references(161)
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
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory