Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye (Pax6(Sey)/Pax6(Sey)) mice

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Abstract

Small eye (Pax6Sey) 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 Pax6Sey/Pax6Sey 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 Pax6Sey-Neu/Pax6Sey and homozygous Pax6Sey/Pax6Sey 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 Pax6Sey/Pax6Sey homozygote may provide insight into the complex gene interactions involved in eye, nasal and craniofacial morphogenesis.
Original languageEnglish
Pages (from-to)311-321
Number of pages12
JournalAnatomy and Embyrology
Volume196
DOIs
Publication statusPublished - 1997

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Craniofacial Abnormalities
Nose
Tooth
Homozygote
Incisor
Fetus
Alleles
Phenotype
Penetrance
Morphogenesis
Genes
Capsules
Genetic Background
Mutation
Brain

Cite this

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title = "Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye (Pax6(Sey)/Pax6(Sey)) mice",
abstract = "Small eye (Pax6Sey) is a semi-dominant mutation affecting development of the eyes, brain and nasal structures. The mutant phenotype arises from defectswithin the Pax6 gene and several mutant alleles have been identified. A previous study reported that Pax6Sey/Pax6Sey 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 Pax6Sey-Neu/Pax6Sey and homozygous Pax6Sey/Pax6Sey 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 Pax6Sey/Pax6Sey homozygote may provide insight into the complex gene interactions involved in eye, nasal and craniofacial morphogenesis.",
keywords = "Small eye, Pax6, Sey, Upper incisor teeth, Cartilaginous rod, Mouse, Genetic background, Fetus",
author = "Jane Quinn",
year = "1997",
doi = "10.1007/s004290050100",
language = "English",
volume = "196",
pages = "311--321",
journal = "Anatomy and Embyrology",

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TY - JOUR

T1 - Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye (Pax6(Sey)/Pax6(Sey)) mice

AU - Quinn, Jane

PY - 1997

Y1 - 1997

N2 - Small eye (Pax6Sey) is a semi-dominant mutation affecting development of the eyes, brain and nasal structures. The mutant phenotype arises from defectswithin the Pax6 gene and several mutant alleles have been identified. A previous study reported that Pax6Sey/Pax6Sey 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 Pax6Sey-Neu/Pax6Sey and homozygous Pax6Sey/Pax6Sey 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 Pax6Sey/Pax6Sey homozygote may provide insight into the complex gene interactions involved in eye, nasal and craniofacial morphogenesis.

AB - Small eye (Pax6Sey) is a semi-dominant mutation affecting development of the eyes, brain and nasal structures. The mutant phenotype arises from defectswithin the Pax6 gene and several mutant alleles have been identified. A previous study reported that Pax6Sey/Pax6Sey 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 Pax6Sey-Neu/Pax6Sey and homozygous Pax6Sey/Pax6Sey 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 Pax6Sey/Pax6Sey homozygote may provide insight into the complex gene interactions involved in eye, nasal and craniofacial morphogenesis.

KW - Small eye

KW - Pax6

KW - Sey

KW - Upper incisor teeth

KW - Cartilaginous rod

KW - Mouse

KW - Genetic background

KW - Fetus

U2 - 10.1007/s004290050100

DO - 10.1007/s004290050100

M3 - Article

VL - 196

SP - 311

EP - 321

JO - Anatomy and Embyrology

JF - Anatomy and Embyrology

ER -