In this strain, a neo cassette replaces exon 3 of the endothelin receptor type B (<i>Ednrb</i>) gene, abolishing gene function.  <i>Ednrb</i> encodes a G protein-coupled receptor expressed in vascular endothelial cells where it is involved in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation.  Mutations have been associated with Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) characterized by deafness, neural crest defects, pigmentation changes, and Hirschsprung's disease.  Hirschsprung's disease is an intestinal disorder that causes intestinal blockage.  Homozygotes are viable but usually die within the first month of life. They show a disruption of neural crest lineage development, which is characterized by a lack of hair or skin pigmentation on 90% of their body.  They die due to peritonitis from distention caused by an aganglionic megacolon.  The phenotype is less severe on this B6/129 hybrid background than on the congenic C57BL/6J background (Stock No. <a href="https://www.jax.org/strain/021933">021933</a>) in that these mice tend to have later onset enterocolitis and have a longer life-span. This mutation is allelic with the piebald lethal spontaneous mutation.

This strain may be used as a model for human Hirschsprung's disease.

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

<a target="_blank" href="https://www.jax.org/jax-mice-and-services/customer-support" rel="noreferrer">Contact Customer Service</a> for more information.