Fine structure mapping and deletion analysis of the murine piebald locus

Journal Article · Sat Jan 01 00:00:00 EST 1994 · Genetics; (United States)

OSTI ID:5135781

Metallinos, D L; Tilghman, S M ^[1]; Oppenheimer, A J ^[2]; Rinchik, E M; Russell, L B ^[3]; Dietrich, W ^[4]

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1. Princeton Univ., NJ (United States)
2. Harvard Medical School, Boston, MA (United States)
3. Oak Ridge National Laboratory, TN (United States)
4. Whitehead Institute for Biomedical Research, Cambridge, MA (United States)

Piebald (s) is a recessive mutation that affects the development of two cell types of neural crest origin: 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.

• DOE Contract Number: AC05-84OR21400
• OSTI ID: 5135781
• Journal Information: Genetics; (United States), Vol. 136:1; ISSN 0016-6731
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GENE MUTATIONS
GENETIC MAPPING
MICE
ANIMAL CELLS
BIOLOGICAL MARKERS
CHROMOSOMES
GANGLIONS
LARGE INTESTINE
MELANIN
ANIMALS
BODY
DIGESTIVE SYSTEM
GASTROINTESTINAL TRACT
HYDROXY COMPOUNDS
INTESTINES
MAMMALS
MAPPING
MUTATIONS
NERVOUS SYSTEM
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
ORGANS
PIGMENTS
RODENTS
VERTEBRATES
550400* - Genetics