title: Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus.
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.
authors.affiliation: Department of Otolaryngology/Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Mich. 48109-0648, USA.
authors.forename: Hana
authors.initials: H
authors.lastname: Odeh
authors.forename: Nobuko
authors.initials: N
authors.lastname: Hagiwara
authors.forename: Michael
authors.initials: M
authors.lastname: Skynner
authors.forename: Kristina L
authors.initials: KL
authors.lastname: Mitchem
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Beyer
authors.forename: Nicholas D
authors.initials: ND
authors.lastname: Allen
authors.forename: Murray H
authors.initials: MH
authors.lastname: Brilliant
authors.forename: M C
authors.initials: MC
authors.lastname: Lebart
authors.forename: David F
authors.initials: DF
authors.lastname: Dolan
authors.forename: Yehoash
authors.initials: Y
authors.lastname: Raphael
authors.forename: David C
authors.initials: DC
authors.lastname: Kohrman
mesh_terms: D000199:Actins / Q000032:analysis; D000483:Alleles; D000818:Animals; D002460:Cell Line; D003638:Deafness / Q000235:genetics*; D016057:Evoked Potentials, Auditory, Brain Stem / Q000235:genetics; D005838:Genotype; D006198:Hair Cells, Auditory / Q000737:chemistry / Q000648:ultrastructure; D006801:Humans; D007150:Immunohistochemistry; D008562:Membrane Glycoproteins; D051379:Mice; D008817:Mice, Mutant Strains; D008840:Microfilament Proteins / Q000032:analysis; D008855:Microscopy, Electron, Scanning; D016254:Mutagenesis, Insertional; D009154:Mutation; D010750:Phosphoproteins / Q000032:analysis; D019076:Transgenes
chemical_list: D000199:Actins; D008562:Membrane Glycoproteins; D008840:Microfilament Proteins; D010750:Phosphoproteins; C104108:espin protein, mouse; C026742:plastin