| First Author | British Society of Audiology short papers meeting on experimental studies of hearing and deafness. Cambridge, United Kingdom, 22-23 September 1996. Kiernan BW | Year | 1997 |
| Journal | Br J Audiol | Volume | 31 |
| Issue | 2 | Pages | 73-132 (84-5 Abstr.) |
| Mgi Jnum | J:39923 | Mgi Id | MGI:87265 |
| Citation | British Society of Audiology short papers meeting on experimental studies of hearing and deafness. Cambridge, United Kingdom, 22-23 September 1996. Kiernan BW, et al. (1997) Analysis of the deaf mouse mutant, whirler. Br J Audiol 31(2):73-132 (84-5 Abstr.) |
| abstractText | Full text of Abstract. Analysis of the deaf mouse mutant, whirler. B.W. Kiernan1, J. Fleming1, M.J.C. Rogers1, T.J. Self1, A. Varela2, A.J.W. Paige2, S.D.M. Brown1 and K.P. Steel1, 1MRC Institute of Hearing Research, University Park, Nottingham NG7 2RD, and 2MRC Mouse Genome Centre, Harwell, Didcot, Oxon OX11 ORD. In the mouse the autosomal recessive mutation whirler (wi) causes neuroepithelial deafness and vestibular dysfunction, exhibited as a characteristic Shaker-Waltzer behaviour (deafness, circling and head-bobbing). A total of 817 mice from an interspecific [(wi/wi X M. castaneus)Fl X wi/wi] backcross and 335 mice from an intraspecific [(wi/wi X CBA/Ca)Fl X wi/wi)] backcross were used to construct a genetic linkage map as the first step in a positional cloning approach designed to identify the wi gene. In the interspecific backcross wi was found to be non-recombinant with Orm1, 0.12 cM distal of D4Mit87and Ambp and 0.37 cM proximal of Tnc on chromosome 4. We have constructed a YAC contig across the wi region. In addition, a P1 clone contig is being constructed around Orml and these clones are being used to analyse the region for candidate genes for the wi mutation. Examination of the surface morphology of the organ of Corti of other neuroepithelial deafness mutants by scanning electron microscopy has proved valuable - aiding an understanding of both the mutant phenotype and normal development. We have examined the organ of Corti in homozygous, heterozygous and wild-type littermates at 15 days after birth. In homozygotes outer hair cells are essentially normal but inner hair cells appear abnormal with many short, stubby stereocilia. All inner hair cells along the entire length of the cochlea are affected. In contrast, heterozygous +/wi animals have inner hair cells with a single row of lengthy stereocilia arranged in a shallow U. No distinction can be made between heterozygotes and wild-type animals. Our results show that although whirler may not be required for the early development of outer hair cell stereociliary bundles, the inner hair cells of whirler mutant mice are abnormal. |
