Cdh23^ahl
Spontaneous Allele Detail

Summary

• Symbol: Cdh23^ahl
• Name: cadherin related 23 (otocadherin); age related hearing loss 1
• MGI ID: MGI:3028349
• Synonyms: Cdh23^753A, mdfw
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^ahl page

Mutation origin

• Strain of Origin: multiple strains

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Genetic complementation tests have shown allelism between the mdfw (modifier of deaf waddler) locus and the ahl locus. Further analysis has shown this is caused by a G-to-A transition at coding nucleotide position 753 of Cdh23 (SNP rs257098870) at the 3' end of exon 7 (in ENSMUST00000073242). This hypomorphic allele changes splice donor site G-GT to A-GT, causing skipping of out-of-frame exon 7. This is predicted to delete part of the 2nd and 3rd ectodomains in the encoded peptide and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD-1, RBF/DnJ, PL/J, AKR/J, RF/J, BALB/cBy, A/WySnJ, P/J, SENCARA/PtJ, DBA/1J, ALS/LtJ, C58/J, C57BLKS/J, 129P1/ReJ, C57BR/cd, SKH2/J, BUB/Bn, MA/MyJ, LP/J, 129X1/SvJ, NOR/LtJ, A/J, C57BL/6, NOD/LtJ, DBA/2J, ALR/LtJ, C57L/J. Strains classified with ahl that DO NOT carry this mutation include: 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ. (J:86905, J:241137)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 55 strains available Cell Lines: 0 lines available
• Carrying any Cdh23 Mutation: 281 strains or lines available

References

• Original: J:38429 Noben-Trauth K, et al., mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics. 1997 Sep 15;44(3):266-72
• All: 70 reference(s)