Article
Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.
Genomics - 15 Jun 1996
Asher J H, Harrison R W, Morell R, Carey M L, Friedman T B
Abstract excerpt
Waardenburg syndrome type 1 is caused by mutations in PAX3. Over 50 human PAX3 mutations that lead to hearing, craniofacial, limb, and pigmentation anomalies have been identified. A PAX3 mutant allele, segregating in a family, can show reduced penetrance and variable expressivity that cannot be e...
Topics
- Alleles
- Animals
- Base Sequence
- Crosses, Genetic
- DNA Primers
- DNA-Binding Proteins
- Disease Models, Animal
- Face
- Female
- Genetic Variation
- Genotype
- Heterozygote
- Humans
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Mutant Strains
- Molecular Sequence Data