Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye ( Pax6 Sey /Pax6 Sey ) mice |
| |
Authors: | Jane C. Quinn John D. West M. H. Kaufman |
| |
Affiliation: | (1) Centre for Reproductive Biology, Department of Obstetrics and Gynaecology, University of Edinburgh, 37 Chalmers Street, Edinburgh EH3 9EW, UK, Tel.: +44-131-229-2575; Fax: +44-131-229 2408, GB;(2) Department of Anatomy, University of Edinburgh, Medical School, Teviot Place, Edinburgh EH8 9AG, UK Tel.: +44-131-650 3113; Fax: +44-131-650 6545, GB |
| |
Abstract: | Small eye (Pax6 Sey ) is a semi-dominant mutation affecting development of the eyes, brain and nasal structures. The mutant phenotype arises from defects within the Pax6 gene and several mutant alleles have been identified. A previous study reported that Pax6 Sey /Pax6 Sey homozygotes, in a random-bred stock, had a median cartilaginous rod-like structure in the nasal region and 80% had supernumerary upper incisor teeth. In this study we show that supernumerary upper incisor teeth and a previously unreported nasal capsule-derived cartilaginous ’spur’ occur in compound heterozygous Pax6 Sey-Neu /Pax6 Sey and homozygous Pax6 Sey /Pax6 Sey fetuses from several strains of mice. The frequencies of the abnormal phenotypes were not related to allele type but showed variable penetrance, which was dependent on genetic background. The median nasal cartilaginous rod-like structure was present in all homozygous small eye fetuses. The Pax6 Sey /Pax6 Sey homozygote may provide insight into the complex gene interactions involved in eye, nasal and craniofacial morphogenesis. Accepted: 28 April 1997 |
| |
Keywords: | Small eye Pax6 Sey Upper incisor teeth Cartilaginous rod Mouse Genetic backgound Fetus |
本文献已被 SpringerLink 等数据库收录! |
|