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Cdh23v
Spontaneous Allele Detail
Nomenclature
Symbol: Cdh23v
Name: cadherin 23 (otocadherin); waltzer
MGI ID: MGI:1856228
Synonyms: v
Gene: Cdh23  Location: Chr10:60138527-60532269 bp, - strand  Genetic Position: Chr10, 30.11 cM
Mutation
origin
Strain of Origin:  old mutant of the mouse fancy
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsA single G nucleotide insertion at coding nucleotide 834 causes a frameshift and premature termination of the encoded protein. (J:69985, J:73941)
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: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Cdh23 Mutation:  196 strains or lines available
Notes
Viability and breeding ability are somewhat less than normal. Homozygotes show the typical circling, head-tossing, deafness, and hyperactivity of the circling mutants. Most of them are deaf from the beginning. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (Cdh23v/+ Myo7ash1/+) are deaf beginning at 3 to 6 months. They have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset (J:13130)(J:15164).
References
Original:  J:30784 Keeler CE, The Laboratory Mouse Its Origin, Heredity, and Culture, in The Laboratory Mouse. Its Origin, Heredity, and Culture. 1931
All:  17 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
11/16/2021
MGI 6.17
The Jackson Laboratory