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Cdh23v-2J
Spontaneous Allele Detail
Nomenclature
Symbol: Cdh23v-2J
Name: cadherin 23 (otocadherin); waltzer 2 Jackson
MGI ID: MGI:2154548
Synonyms: Cdh23v-2J
Gene: Cdh23  Location: Chr10:60302748-60696490 bp, - strand  Genetic Position: Chr10, 30.11 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-A transition at the first nucleotide of intron 32 alters the wild-type donor splice site. RT-PCR analysis demonstrated that aberrant transcripts were produced from this allele, and all of these were predicted to introduce a premature stop codon. (J:66698)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 2 assay results
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:  61 strains or lines available
References
Original:  J:66698 Di Palma F, et al., Mutations in cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for usher syndrome type 1D. Nat Genet. 2001 Jan;27(1):103-7
All:  19 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
03/24/2015
MGI 5.21
The Jackson Laboratory