| First Author | Odeh H | Year | 2004 |
| Journal | Audiol Neurootol | Volume | 9 |
| Issue | 5 | Pages | 303-14 |
| PubMed ID | 15347914 | Mgi Jnum | J:93174 |
| Mgi Id | MGI:3056112 | Doi | 10.1159/000080701 |
| Citation | Odeh H, et al. (2004) Characterization of two transgene insertional mutations at pirouette, a mouse deafness locus. Audiol Neurootol 9(5):303-14 |
| abstractText | 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. |
