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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 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; chr10:73156691-73575704 (+)  GRCh37.p10
Disease Associations  (2) Diseases Associated with Human CDH23
Alleles
and
phenotypes 		All alleles(29) : Targeted(5) Gene trapped(2) Spontaneous(12) Chemically induced(7) QTL(3)
 
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)
Gene Ontology
(GO)
classifications 		All GO classifications: (53 annotations)
Process adult locomotory behavior, auditory receptor cell differentiation, ...
Component cilium, integral to membrane, ...
Function calcium ion binding, metal ion binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression Literature Summary: (9 records)
Data Summary: Results (71)    Tissues (23)    Images (19)
Theiler Stages: 18, 23, 25, 26, 28
Assay TypeResults
RNA in situ 38
RT-PCR 33
cDNA source data(16)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents 		All nucleic(24) Genomic(3) cDNA(16) Primer pair(5)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000017511 (Evidence)
Ensembl Gene ModelENSMUSG00000012819 (Evidence)
Entrez Gene22295 (Evidence)
UniGene440327
DFCITC1594862, TC1599463, TC1613099, TC1658923, TC1699250, TC1768923
DoTSDT.110590411, DT.110590545, DT.110590573, DT.110590659, DT.110590835, DT.110590871, DT.40164248, DT.55182731, DT.91333999, DT.91334000, DT.91398674, DT.97381184
NIA Mouse Gene IndexU031830
PDB2WBX, 2WCP, 2WHV, 3MVS, 4APX, 4AQA, 4AQE, 4AXW, 2WD0, 4AQ8
Consensus CDS ProjectCCDS56704.1
International Mouse Knockout Project StatusCdh23
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(94) RefSeq(5) UniProt(13)
Polymorphisms SNPs(1339 from dbSNP Build 128)
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:193334 Xiong W, et al., TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012 Dec 7;151(6):1283-95
All references(149)
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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Send questions and comments to User Support. 		last database update
05/22/2013
MGI 5.13 		The Jackson Laboratory