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Cdh2312J
Chemically induced Allele Detail
Summary
Symbol: Cdh2312J
Name: cadherin related 23 (otocadherin); 12 Jackson
MGI ID: MGI:4453135
Synonyms: Cdh23erl, Cdh23nmf308, erl, erlong, NMF308
Gene: Cdh23  Location: Chr10:60138527-60532269 bp, - strand  Genetic Position: Chr10, 30.11 cM
Alliance: Cdh2312J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis ENU-induced mutation is a T to C transition at coding nucleotide 208, which is base pair 63 in exon 3, that results in replacement of serine by proline at amino acid position 70 (p.S70P). (J:174758, J:183808)
Inheritance:    Recessive
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: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cdh23 Mutation:  281 strains or lines available
References
Original:  J:174758 Han F, et al., A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. Pharmacogenomics J. 2012 Feb;12(1):30-44
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory