Article
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice.
Cell - 30 Dec 1994
Hosoda K, Hammer R E, Richardson J A, Baynash A G, Cheung J C, Giaid A, Yanagisawa M
Abstract excerpt
Endothelins act on two subtypes of G protein-coupled receptors, termed endothelin-A and endothelin-B receptors. We report a targeted disruption of the mouse endothelin-B receptor (EDNRB) gene that results in aganglionic megacolon associated with coat color spotting, resembling a hereditary syndrome of mice, humans, and other mammalian species. Piebald-lethal (sl) mice exhibit a recessive phenotype identical to...
Topics
- Animals
- Base Sequence
- Chromosome Mapping
- Gene Deletion
- Hair Color
- Hirschsprung Disease
- Homozygote
- Mice
- Mice, Knockout
- Mice, Mutant Strains
- Molecular Sequence Data