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Cdh23Jera
Chemically induced Allele Detail
Nomenclature
Symbol: Cdh23Jera
Name: cadherin 23 (otocadherin); jera
MGI ID: MGI:5140884
Synonyms: Cdh23V2360E
Gene: Cdh23  Location: Chr10:60302748-60696490 bp, - strand  Genetic Position: Chr10, 30.11 cM
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU induced a T to A missense mutation at nucleotide 7097 resulting in a valine to glutamic acid substitution at amino acid 2360. This mutation falls within a highly conserved calcium binding motif in extracellular domain 22. Immunofluorescence analysis is lost from both inner and outer hair cells by P30 in homozygous mice. (J:174130)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cdh23 Mutation:  166 strains or lines available
References
Original:  J:174130 Manji SS, et al., An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice. Am J Pathol. 2011 Aug;179(2):903-14
All:  1 reference(s)

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
05/15/2018
MGI 6.12
The Jackson Laboratory