Fine structure mapping and deletion analysis of the murine piebald locus. Author D Metallinos, A Oppenheimer, E Rinchik, L Russell, W Dietrich, S Tilghman Publication Year 1994 Type Journal Article Abstract piebald (s) is a recessive mutation that affects the development of two cell types of neural crest origin: the melanocytes, responsible for pigment synthesis in the skin, and enteric ganglia, which innervate the lower bowel. As a result, mice carrying piebald mutations exhibit white spotting in the coat and aganglionic megacolon. Previously the gene had been localized to the distal half of mouse chromosome 14. To determine its precise location relative to molecular markers, an intersubspecific backcross was generated. Two anchor loci of chromosome 14, slaty and hypogonadal, in addition to simple sequence length repeat markers, were used to localize s to a 2-cM interval defined by the markers D14Mit38 and D14Mit42. The molecular markers were also used to characterize nine induced s alleles. Three of these mutations exhibited no deletions or rearrangements of the flanking markers, whereas the other six had two or more of these markers deleted. The extent of the deletions was found to be consistent with the severity of the homozygous phenotype. The location of deletion breakpoints in the induced alleles, coupled with the recombination breakpoints in the backcross progeny, provide useful molecular landmarks to define the location of the piebald gene. Keywords Animals, Mutation, Female, Male, Base Sequence, Liver, Mice, Molecular Sequence Data, DNA Primers, Genetic Markers, DNA, Chromosome Mapping, Genetic Linkage, Polymorphism, Genetic, Homozygote, Polymerase Chain Reaction, Spermatozoa, Recombination, Genetic, Crosses, Genetic, Genes, Recessive, Hair Color, Mice, Mutant Strains, Spleen, Megacolon Journal Genetics Volume 136 Issue 1 Pages 217-23 Date Published 01/1994 Alternate Journal Genetics Google ScholarBibTeXEndNote X3 XML