Document Detail


Molecular characterization of the p(un) allele of the mouse pink-eyed dilution locus.
MedLine Citation:
PMID:  1292008     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
M H Brilliant; Y Gondo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society     Volume:  5     ISSN:  0893-5785     ISO Abbreviation:  Pigment Cell Res.     Publication Date:  1992 Nov 
Date Detail:
Created Date:  1993-03-30     Completed Date:  1993-03-30     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800247     Medline TA:  Pigment Cell Res     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  271-3     Citation Subset:  IM    
Affiliation:
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111.
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MeSH Terms
Descriptor/Qualifier:
Albinism, Oculocutaneous / genetics
Alleles*
Animals
Blotting, Southern
Chromosome Mapping
Chromosomes, Human, Pair 7
DNA / analysis,  genetics
Eye Color / genetics*
Genes / genetics*
Homozygote
Humans
Mice
Mice, Inbred C57BL
Mutation / genetics
Phenotype
Pigmentation
Grant Support
ID/Acronym/Agency:
CA06927/CA/NCI NIH HHS; GM43840/GM/NIGMS NIH HHS; RR05539/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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