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Cdh23v-bus
Spontaneous Allele Detail
Nomenclature
Symbol: Cdh23v-bus
Name: cadherin 23 (otocadherin); bustling waltzer
MGI ID: MGI:1856681
Synonyms: BUS/Idr
Gene: Cdh23  Location: Chr10:60302748-60696490 bp, - strand  Genetic Position: Chr10, 30.11 cM
Mutation
origin
Strain of Origin:  KYF/MsIdr
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G to A substitution is located at the CAG splice donor site of exon 67/intron 67. Two mutant transcripts are produced; one containing all of intron 67, exon 68, 8 bp of intron 68 and exon 69 and the other containing 164 bp of intron 67 and exons 68 and 69. In the first transcript a termination codon is located within intron 67. In the second transcript a termination codon is located at the beginning of exon 68. Expression of these transcripts is seen in the inner ear; however, western blot analysis failed to detect multiple protein isoforms in homozygous mice. (J:57150, J:174130, J:174759)
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 Mice Carrying this Mutation: 20 assay results
In Structures Affected by this Mutation: 4 anatomical structures
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:  81 strains or lines available
References
Original:  J:12975 Shoji R, Congenital hyperkinesia. Mouse News Lett. 1988;81:68
All:  9 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
03/30/2021
MGI 6.16
The Jackson Laboratory