Phenotypes Associated with This Genotype

Genotype
MGI:2177436

• Allelic Composition: Cftr^tm1Cam/Cftr^tm1Cam
• Genetic Background: involves: 129S/SvEv

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

mortality/aging

premature death ( J:2584 , J:23850 )

• a few survive up to 45 days (J:23850)

postnatal lethality, incomplete penetrance ( J:2584 , J:23850 )

• pups fail to thrive and about 80% die 2-5 days after birth, the rest survive up to 45 days, with a large percentage of survivors dying around 21 days (J:23850)

digestive/alimentary system

dilated pancreatic duct ( J:23850 )

• dilation and blockage of pancreatic ducts in 5 of 10 mutants aged 17 days or older

abnormal intestine morphology ( J:23850 )

• distension of the intestine in observed proximally to the blockage and within the distended area, the majority of the intestinal villi are severely atrophic and necrotic in places

abnormal crypts of Lieberkuhn morphology ( J:23850 )

• crypts of Lieberkuhn are severely dilated with mucus

dilated crypt of Lieberkuhn ( J:23850 )

small cecum ( J:2584 )

• cecum is reduced

abnormal colon morphology ( J:23850 )

• crypt distension and mucus hypersecretion in the colon

abnormal small intestine morphology ( J:23850 )

• crypts of the jejunum and ileum are filled with excessive mucus, indicating gastrointestinal mucus accumulation

intestinal mucus accumulation ( J:23850 )

intestinal obstruction ( J:2584 , J:23850 )

• variable penetrance of intestinal obstruction in the jejunum and meconium blockage of ileum (meconium ileus) (J:2584)

meconium ileus ( J:2584 , J:23850 )

peritoneal inflammation ( J:23850 )

• death caused by severe peritonitis

endocrine/exocrine glands

dilated pancreatic duct ( J:23850 )

• dilation and blockage of pancreatic ducts in 5 of 10 mutants aged 17 days or older

abnormal crypts of Lieberkuhn morphology ( J:23850 )

• crypts of Lieberkuhn are severely dilated with mucus

dilated crypt of Lieberkuhn ( J:23850 )

abnormal lacrimal gland morphology ( J:23850 )

• acinar dilation although no obvious accumulation of mucus

growth/size/body

decreased body weight ( J:23850 )

• those surviving past 2-5 days of age are runted and half the weight of wild-type

immune system

peritoneal inflammation ( J:23850 )

• death caused by severe peritonitis

increased susceptibility to infection ( J:23850 )

• several mutants develop eye infections and are prone to persistent eye closure

vision/eye

abnormal lacrimal gland morphology ( J:23850 )

• acinar dilation although no obvious accumulation of mucus

respiratory system

respiratory system phenotype ( J:23850 )

N • no accumulation of mucus in the lungs

decreased respiratory epithelial chloride transmembrane transport ( J:23850 )

decreased respiratory epithelial sodium ion transmembrane transport ( J:23850 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:2584