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Cdh23ahl
Spontaneous Allele Detail
Nomenclature
Symbol: Cdh23ahl
Name: cadherin 23 (otocadherin); age related hearing loss 1
MGI ID: MGI:3028349
Synonyms: Cdh23753A, mdfw
Gene: Cdh23  Location: Chr10:60302748-60696490 bp, - strand  Genetic Position: Chr10, 30.11 cM
Mutation
origin
Strain of Origin:  multiple strains
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsGenetic 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 nucleotide position 753 of Cdh23. This hypomorphic allele causes in frame skipping of exon 7, which is predicted to delete part of the 2nd and 3rd ectodomains, and cause reduced message stability. Twenty-seven strains classified with ahl and carrying the 753A allele include: CD1, 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: C3H/HeSnJ, I/LnJ, YBR/Ei, MRL/MpJ. (J:86905, J:241137)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 47 strains available      Cell Lines: 0 lines available
Carrying any Cdh23 Mutation:  153 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:  31 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory