FCCC LOGO Faculty Publications
Brilliant MH , Gondo Y
Molecular Characterization of the P(Un) Allele of the Mouse Pink-Eyed Dilution Locus
Pigment Cell Research. 1992 Nov;5(5) :271-273
PMID: ISI:A1992KD24200002   
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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.
English Article 2 KD242 PIGM CELL RES