Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus

Hana Odeh, Nobuko Hagiwara, Michael Skynner, Kristina L. Mitchem, Lisa A. Beyer, Nicholas D. Allen, Murray H. Brilliant, M. C. Lebart, David F. Dolan, Yehoash Raphael, David C. Kohrman

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

The mouse mutant 'pirouette' (pi) exhibits profound hearing loss and vestibular defects due to inheritance of a recessive mutation on chromosome 5. Dysfunction has been correlated with defects during maturation of sensory cells in the inner ear. As an initial step in characterizing pirouette at the genetic level, we have localized the candidate interval to a small region on central chromosome 5 by analysis of a congenic strain of pirouette mice. This region exhibits conserved synteny with human chromosome 4 and suggests that pirouette may be a genetic model of the human nonsyndromic deafness disorder DFNB25, which has been localized to 4p15.3-q12. In addition to the original spontaneous pirouette strain, we have identified and characterized 2 additional mouse strains with allelic mutations at the same locus. Analysis of the morphology in each of the 3 pirouette alleles indicated very similar early postnatal alterations in maturation of stereocilia and suggests that the gene affected in pirouette normally plays a role in building or maintaining these structures that are critical for sensory mechanotransduction.

Original languageEnglish (US)
Pages (from-to)303-314
Number of pages12
JournalAudiology and Neuro-Otology
Volume9
Issue number5
DOIs
StatePublished - 2004
Externally publishedYes

Keywords

  • Actin
  • Deaf mice
  • Hair cell
  • Stereocilia

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Neuroscience(all)
  • Physiology

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    Odeh, H., Hagiwara, N., Skynner, M., Mitchem, K. L., Beyer, L. A., Allen, N. D., Brilliant, M. H., Lebart, M. C., Dolan, D. F., Raphael, Y., & Kohrman, D. C. (2004). Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus. Audiology and Neuro-Otology, 9(5), 303-314. https://doi.org/10.1159/000080701