title: Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.
abstract: Thirty-six radiation- or chemically induced homozygous-lethal mutations at the p locus in mouse chromosome 7 have been analyzed at 17 loci defined by molecular probes to determine the types of lesions, numbers of p-region markers deleted or rearranged, regions of overlap of deletion mutations, and genetic distances between loci. A linear deletion map of the [Myod1, Ldh3]-[Snrpn, Znf127] region has been constructed from the molecular analyses of the p-locus deletions. The utility of these deletions as tools for the isolation and characterization of the genes specifying the neurological, reproductive, and developmental phenotypes genetically mapped to this region will grow as more detailed molecular analyses continue.
authors.affiliation: Biology Division, Oak Ridge National Laboratory, Tennessee 37831-8077, USA. johnsondk@bioaxl.bio.ornl.gov
authors.forename: D K
authors.initials: DK
authors.lastname: Johnson
authors.forename: L J
authors.initials: LJ
authors.lastname: Stubbs
authors.forename: C T
authors.initials: CT
authors.lastname: Culiat
authors.forename: C S
authors.initials: CS
authors.lastname: Montgomery
authors.forename: L B
authors.initials: LB
authors.lastname: Russell
authors.forename: E M
authors.initials: EM
authors.lastname: Rinchik
mesh_terms: D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins; D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D002352:Carrier Proteins; D015342:DNA Probes; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; C076239:P protein, mouse