RGD Reference Report - Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. - Rat Genome Database

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Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss.

Authors: Noben-Trauth, K  Zheng, QY  Johnson, KR 
Citation: Noben-Trauth K, etal., Nat Genet 2003 Sep;35(1):21-3. Epub 2003 Aug 10.
RGD ID: 737781
Pubmed: PMID:12910270   (View Abstract at PubMed)
PMCID: PMC2864026   (View Article at PubMed Central)
DOI: DOI:10.1038/ng1226   (Journal Full-text)

Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele causes in-frame skipping of exon 7. Altered adhesion or reduced stability of CDH23 may confer susceptibility to AHL. Homozygosity at Cdh23(753A) or in combination with heterogeneous secondary factors is a primary determinant of AHL in mice.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Presbycusis  ISOCdh23 (Mus musculus)737781; 737781 RGD 
Presbycusis  IAGP 737781 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cdh23  (cadherin-related 23)

Genes (Mus musculus)
Cdh23  (cadherin related 23 (otocadherin))

Genes (Homo sapiens)
CDH23  (cadherin related 23)


Additional Information