Phenotypes Associated with This Genotype

Genotype
MGI:5617944

• Allelic Composition: Ednrb^tm1Ywa/Ednrb^tm1Ywa
• Genetic Background: B6;129-Ednrb^tm1Ywa/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Colon crypt proliferation in Ednrb^tm1Ywa/Ednrb^tm1Ywa mice

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:216833 )

• distal colon shows increased thickness of the mucosal layer

abnormal large intestine crypts of Lieberkuhn morphology ( J:216833 )

• total crypt length is increased distally in the colon at P7 and P18

• however, crypt length and proliferation in the proximal colon are not different from wild-type mice

abnormal colon goblet cell morphology ( J:216833 )

• goblet cell number and size are increased in the distal (aganglionic) colon at P18

• goblet cell number and size are decreased in the proximal colon at P18

abnormal colon morphology ( J:216833 )

• distal colon shows increased thickness of the mucosal layer

• mice show expansion of the proliferative zone in the distal colon at P7 and P18

abnormal feces composition ( J:216833 )

• mice show reduced stool water content

abnormal intestine physiology ( J:216833 )

• transepithelial resistance is increased in the distal colon

• mice exhibit hindered transport of particles in intact mucus on colon epithelium indicating increased mucus viscosity in the distal colon and enhanced barrier properties

• however, chloride secretion from crypt enterocytes in the distal colon in response to stimulation with either carbachol or forskolin is similar to wild-type mice

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:216833 )

• total crypt length is increased distally in the colon at P7 and P18

• however, crypt length and proliferation in the proximal colon are not different from wild-type mice

abnormal colon goblet cell morphology ( J:216833 )

• goblet cell number and size are increased in the distal (aganglionic) colon at P18

• goblet cell number and size are decreased in the proximal colon at P18

cellular

abnormal colon goblet cell morphology ( J:216833 )

• goblet cell number and size are increased in the distal (aganglionic) colon at P18

• goblet cell number and size are decreased in the proximal colon at P18

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hirschsprung's disease		DOID:10487	OMIM:600156 OMIM:606874 OMIM:606875 OMIM:608462 OMIM:611644	J:216833