Phenotypes Associated with This Genotype

Genotype
MGI:5445419

• Allelic Composition: Cftr^tm1Eur/Cftr^tm1Eur
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

growth/size/body

decreased body weight ( J:28979 )

postnatal growth retardation ( J:28979 )

digestive/alimentary system

abnormal intestinal goblet cell morphology ( J:28979 )

• focal hypertrophy of goblet cells in the crypts of Lieberkuhn, predominantly seen in deep crypts

• crypts containing hypertrophic goblet cells are located in clusters

• however, the majority of the intestine appears normal

abnormal large intestine crypts of Lieberkuhn morphology ( J:28979 )

• crypts in the colon show some mucus retention and slight dilatation and have a layer of thick mucus on top of the crypts

• however, no distention of the crypts in the small intestine or complete intestinal obstruction either in the ileum or colon is seen

decreased intestinal epithelial chloride transmembrane transport ( J:28979 )

• in the ileum, the initial potential differences and equivalent short circuit currents (Ieq) are lower, indicating that cAMP-induced activation of calcium-dependent chloride channels is reduced in the ileum

• luminal hyperpolarization induced by forksolin is reduced, whereas the response to glucose addition which activates the sodium/glucose co-transporter is normal

respiratory system

decreased respiratory epithelial chloride transmembrane transport ( J:28979 )

• basal in vivo nasal potential difference is higher than in controls

• nasal potential increases in response to a large chloride gradient created by substitution of chloride by gluconate in the superfusion solution

endocrine/exocrine glands

abnormal large intestine crypts of Lieberkuhn morphology ( J:28979 )

• crypts in the colon show some mucus retention and slight dilatation and have a layer of thick mucus on top of the crypts

• however, no distention of the crypts in the small intestine or complete intestinal obstruction either in the ileum or colon is seen

liver/biliary system

abnormal gallbladder physiology ( J:28979 )

• mutants show a reduced potential difference response to forksolin in the gallbladder, indicating that cAMP-induced activation of calcium-dependent chloride channels is reduced in the gallbladder

cellular

abnormal intestinal goblet cell morphology ( J:28979 )

• focal hypertrophy of goblet cells in the crypts of Lieberkuhn, predominantly seen in deep crypts

• crypts containing hypertrophic goblet cells are located in clusters

• however, the majority of the intestine appears normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:28979