|
| spotting lethal (sl) rats with a natural null mutation of the EDNRB gene exhibit aganglionic megacolon associated with white coat color  | |
null allele of Ednrb results in homozygous mice that are predominantly white and die as juveniles from megacolon |
|
endothelin-B receptor-deficient rats die shortly after birth due to congenital distal intestinal aganglionosis |
|
dopamine--hydroxylase (DBH)-ET(B) transgene/ET(B)(sl/sl) rats are hypertensive because they lack the normal tonic inhibition of the renal epithelial sodium channel |
|
mouse with spontaneous mutation of the endothelin-B receptor gene display Waardenburg syndrome type 4 |
|
ET-B receptor-deficient rats display an exaggerated lung vascular protein leak in normoxia, that hypoxia exacerbates that leak, and that this effect is in part attributable to an ET-mediated increase in lung VEGF content |
|
EdnrB/Sox10 double mutants display more severe aganglionosis |
|
Sox10-EdnrB interactions can influence development of the enteric nervous system in mouse models and could contribute to the epistatic network producing variation between patients with aganglionosis |