Cdh23^v-bus
Spontaneous Allele Detail

Summary

• Symbol: Cdh23^v-bus
• Name: cadherin related 23 (otocadherin); bustling waltzer
• MGI ID: MGI:1856681
• Synonyms: BUS/Idr
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^v-bus page

Mutation origin

• Strain of Origin: KYF/MsIdr

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

Expression

In Mice Carrying this Mutation:	20 assay results
In Structures Affected by this Mutation:	4 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:12975 Shoji R, Congenital hyperkinesia. Mouse News Lett. 1988;81:68
• All: 9 reference(s)