Phenotypes Associated with This Genotype

Genotype
MGI:5445420

• Allelic Composition: Cftr^tm1Eur/Cftr^tm1Eur
• Genetic Background: B6.129P2-Cftr^tm1Eur

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

digestive/alimentary system

abnormal intestinal goblet cell morphology ( J:189205 )

• increase in the number of goblet cells per crypt

abnormal small intestine crypts of Lieberkuhn morphology ( J:189205 )

• ileal crypts are filled with dense mucus material and mucin is trapped in the ileal crypts of the small intestine

• the mucus of the small intestine is attached to the epithelium and is impenetrable to 2 um beads unlike in wild-type mice in which the beads sediment through the mucus and are on the epithelium

• high bicarbonate (NaHCO3) or EDTA treatment normalizes the mucus phenotype of mutants

abnormal small intestinal crypt cell physiology ( J:189205 )

• mutants secrete a denser mucus, with 2.6 times more Muc2 glycoprotein and the small intestine shows increased mucin production

endocrine/exocrine glands

abnormal small intestine crypts of Lieberkuhn morphology ( J:189205 )

• ileal crypts are filled with dense mucus material and mucin is trapped in the ileal crypts of the small intestine

• the mucus of the small intestine is attached to the epithelium and is impenetrable to 2 um beads unlike in wild-type mice in which the beads sediment through the mucus and are on the epithelium

• high bicarbonate (NaHCO3) or EDTA treatment normalizes the mucus phenotype of mutants

cellular

abnormal intestinal goblet cell morphology ( J:189205 )

• increase in the number of goblet cells per crypt

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:189205