Cdh23^v-Alb
Chemically induced Allele Detail

Summary

• Symbol: Cdh23^v-Alb
• Name: cadherin related 23 (otocadherin); Albany waltzer
• MGI ID: MGI:1857310
• Synonyms: Cdh23^Alb
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^v-Alb page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Chemically induced (other)
• Mutation: Single point mutation
• Mutation details: A C-to-T transition at coding nucleotide 1635 in glycine codon 545 does not alter the amino acid sequence of the encoded protein directly. However, RT-PCR analysis demonstrated that aberrant transcripts are produced from this allele, because the mutation creates an ectopic donor splice site G-GT (from glycine codon GGC). Using this splice site leads to the loss of the last 119 bp of the exon and subsequent frameshift and premature stop codon. (J:66698, J:174130)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	8 assay results
In Structures Affected by this Mutation:	1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Cdh23 Mutation: 281 strains or lines available

References

• Original: J:38058 Bryda EC, et al., A high-resolution genetic map around waltzer on mouse chromosome 10 and identification of a new allele of waltzer. Mamm Genome. 1997 Jan;8(1):1-4
• All: 5 reference(s)