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Author Quinn, Jane C. ♦ West, John D. ♦ Kaufman, M. H.
Source SpringerLink
Content type Text
Publisher Springer-Verlag
File Format PDF
Copyright Year ©1997
Language English
Subject Domain (in DDC) Social sciences ♦ Sociology & anthropology
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.
ISSN 03402061
Age Range 18 to 22 years ♦ above 22 year
Educational Use Research
Education Level UG and PG
Learning Resource Type Article
Publisher Date 1997-09-23
Publisher Place Berlin/Heidelberg
e-ISSN 14320568
Journal Anatomy and Embryology
Volume Number 196
Issue Number 4
Page Count 11
Starting Page 311
Ending Page 321


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Source: SpringerLink