Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

@article{Hosoda1994TargetedAN,
  title={Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice},
  author={Kiminori Hosoda and Robert E. Hammer and James A. Richardson and Amy Greenstein Baynash and Jason C. Cheung and Adel Giaid and Masashi Yanagisawa},
  journal={Cell},
  year={1994},
  volume={79},
  pages={1267-1276}
}
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 that of the EDNRB knockout mice. In crossbreeding studies, the two mutations show no… Expand
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