title: Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus.
abstract: The mouse pink-eyed dilution locus, p, located on chromosome 7, mediates coat and eye color. The human correlate of this gene may underlie some forms of tyrosinase-positive oculocutaneous albinism. Mutations at the p locus result in a reduction in pigmentation of the eyes and coat. Although most mutant p alleles (including all spontaneous mutations) affect only pigmentation, several mutant alleles (all radiation induced) are also associated with a variety of other phenotypes. We have focused our attention on the p(un) mutant allele, a spontaneous mutation, exhibiting one of the highest reversion frequencies reported for a mammalian mutation. Using a new technique, genome scanning, we have cloned fragments of genomic DNA from the p locus that are associated with a DNA duplication in p(un) DNA. These fragments can now be used to locate the p gene-encoding sequences and aid in the molecular characterization of complex mutant p alleles.
authors.affiliation: Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111.
authors.forename: M H
authors.initials: MH
authors.lastname: Brilliant
authors.forename: Y
authors.initials: Y
authors.lastname: Gondo
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics; D000483:Alleles; D000818:Animals; D015139:Blotting, Southern; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000032:analysis / Q000235:genetics; D005127:Eye Color / Q000235:genetics*; D005796:Genes / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D010858:Pigmentation
chemical_list: D004247:DNA