The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
Document Type
Article
Publication Date
2001
Keywords
Animal, Base-Sequence, Cadherins, Cloning-Molecular, Cochlea, DNA-Mutational-Analysis, Deafness, Genotype, Mice, Mice-Mutant-Strains, Molecular-Sequence-Data, Mutation, Phenotype, Protein-Precursors, RNA-Messenger, Reverse-Transcriptase-Polymerase-Chain-Reaction, Sequence-Deletion, SUPPORT-U-S-GOVT-P-H-S
First Page
99
Last Page
102
JAX Source
Nat Genet 2001 Jan; 27(1):99-102.
Grant
1RO1DC03420/DC/NIDCD, HD07104/HD/NICHD
Abstract
The neuroepithelia of the inner ear contain hair cells that function as mechanoreceptors to transduce sound and motion signals. Mutations affecting these neuroepithelia cause deafness and vestibular dysfuction in humans. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia. Here we report that the gene that harbours the av mutation encodes a novel protocadherin. Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear.
Recommended Citation
Alagramam KN,
Murcia CL,
Kwon HY,
Pawlowski KS,
Wright CG,
Woychik RP.
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet 2001 Jan; 27(1):99-102.