Cdh23^v-ngt
Spontaneous Allele Detail

Summary

• Symbol: Cdh23^v-ngt
• Name: cadherin related 23 (otocadherin); waltzer Niigata
• MGI ID: MGI:2154549
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^v-ngt page

Mutation origin

• Strain of Origin: ICR

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A G-to-A substitution in the 3' end of intron 2 in splice acceptor site CAG-GT effectively eliminating it but at the same time creating a new acceptor that moves the splice junction one base downstream (AAG-T) into exon 3. The resulting mRNA lacks the single G nucleotide from the start of exon 3 (part of codon 49), causing a frameshift and premature termination of the encoded protein. (J:69028)
• Inheritance: Recessive

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cdh23 Mutation: 281 strains or lines available

References

• Original: J:69028 Wada T, et al., A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem Biophys Res Commun. 2001 Apr 27;283(1):113-7
• All: 3 reference(s)