The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

Kumar N. Alagramam, Crystal L. Murcia, Heajoon Y. Kwon, Karen S. Pawlowski, Charles G. Wright, Richard P. Woychik

Research output: Contribution to journalArticle

238 Citations (Scopus)

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 humans1-3. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia4. 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.

Original languageEnglish (US)
Pages (from-to)99-102
Number of pages4
JournalNature Genetics
Volume27
Issue number1
DOIs
StatePublished - 2001

Fingerprint

Inner Ear
Hearing Loss
Deafness
Mutation
Auditory Hair Cells
Stereocilia
Genes
Mechanoreceptors
Parturition

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Alagramam, K. N., Murcia, C. L., Kwon, H. Y., Pawlowski, K. S., Wright, C. G., & Woychik, R. P. (2001). The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nature Genetics, 27(1), 99-102. https://doi.org/10.1038/83837

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. / Alagramam, Kumar N.; Murcia, Crystal L.; Kwon, Heajoon Y.; Pawlowski, Karen S.; Wright, Charles G.; Woychik, Richard P.

In: Nature Genetics, Vol. 27, No. 1, 2001, p. 99-102.

Research output: Contribution to journalArticle

Alagramam, KN, Murcia, CL, Kwon, HY, Pawlowski, KS, Wright, CG & Woychik, RP 2001, 'The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene', Nature Genetics, vol. 27, no. 1, pp. 99-102. https://doi.org/10.1038/83837
Alagramam, Kumar N. ; Murcia, Crystal L. ; Kwon, Heajoon Y. ; Pawlowski, Karen S. ; Wright, Charles G. ; Woychik, Richard P. / The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. In: Nature Genetics. 2001 ; Vol. 27, No. 1. pp. 99-102.
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