Molecular and functional mapping of the piebald deletion complex on mouse chromosome 14.
Document Type
Article
Publication Date
2001
Keywords
Animal, Chromosome-Mapping, Chromosomes, Female, Gene-Deletion, Genetic-Complementation-Test, Genetic-Markers, Genotype, Homozygote, Male, Mice, Mice-Inbred-C3H, Models-Genetic, Mutagenesis, Mutation, Polymorphism-(Genetics), Receptors-Endothelin, SUPPORT-U-S-GOVT-P-H-S
First Page
803
Last Page
815
JAX Source
Genetics 2001 Feb; 157(2):803-15.
Grant
CA34196/CA/NCI, HD36434/HD/NICHD
Abstract
The piebald deletion complex is a set of overlapping chromosomal deficiencies surrounding the endothelin receptor B locus collected during the Oak Ridge specific-locus-test mutagenesis screen. These chromosomal deletions represent an important resource for genetic studies to dissect the functional content of a genomic region, and several developmental defects have been associated with mice homozygous for distinct piebald deletion alleles. We have used molecular markers to order the breakpoints for 20 deletion alleles that span a 15.7-18-cM region of distal mouse chromosome 14. Large deletions covering as much as 11 cM have been identified that will be useful for regionally directed mutagenesis screens to reveal recessive mutations that disrupt development. Deletions identified as having breakpoints positioned within previously described critical regions have been used in complementation studies to further define the functional intervals associated with the developmental defects. This has focused our efforts to isolate genes required for newborn respiration and survival, skeletal patterning and morphogenesis, and central nervous system development.
Recommended Citation
Roix JJ,
Hagge GA,
Bissonnette DM,
Rodick S,
Russell LB,
O'Brien TP.
Molecular and functional mapping of the piebald deletion complex on mouse chromosome 14. Genetics 2001 Feb; 157(2):803-15.