Phenotypes Associated with This Genotype

Genotype
MGI:2177543

• Allelic Composition: Cftr^tm3Hgu/Cftr^tm3Hgu
• Genetic Background: involves: 129P2/OlaHsd

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

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:32766 )

• dilated intestinal mucus glands

dilated crypt of Lieberkuhn ( J:32766 )

• presence of eosinophilic concretions in the crypts of Lieberkuhn resulting in dilation, particularly in the jejunum

decreased small intestinal villus number ( J:32766 )

• small intestines show loss of villi with accumulation of necrotic and fecal material in the lumen

abnormal salivary gland morphology ( J:32766 )

• salivary gland appeared hypercellular due to serous cells losing the vacuolated appearance

intestinal obstruction ( J:32766 )

• 33% die early from intestinal obstruction

• obstructions were found distal or proximal to the caecum

decreased intestinal epithelial sodium ion transmembrane transport ( J:32766 )

• baseline PD values and response to forskolin were significantly reduced in the jejunum, cecum and rectum

peritoneal inflammation ( J:32766 )

• obstructions were found distal or proximal to the caecum

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:32766 )

N • no difference in the acinar or epithelial cells of the pancreas

dilated crypt of Lieberkuhn ( J:32766 )

• presence of eosinophilic concretions in the crypts of Lieberkuhn resulting in dilation, particularly in the jejunum

abnormal salivary gland morphology ( J:32766 )

• salivary gland appeared hypercellular due to serous cells losing the vacuolated appearance

abnormal bile duct morphology ( J:32766 )

• one animal showed focal biliary cirrhosis, with biliary ducts absent and replaced with fibrotic stroma and inflammatory infiltrate

bile duct epithelium hyperplasia ( J:32766 )

• 3/15 animals showed hyperplasia of the bile duct epithelia

abnormal submucosal gland morphology ( J:32766 )

• inspissated eosinophilic material in the lumen of the pharyngeal submucosal glands

enlarged gallbladder ( J:32766 )

• gallbladder appears black and enlarged

growth/size/body

enlarged gallbladder ( J:32766 )

• gallbladder appears black and enlarged

decreased body size ( J:32766 )

• homozygous mice are runted

decreased body weight ( J:32766 )

• homozygous mice weigh only 50 to 70% of control siblings

immune system

peritoneal inflammation ( J:32766 )

• obstructions were found distal or proximal to the caecum

gallbladder inflammation ( J:32766 )

• 5/9 gallbladders showed a presence of large numbers of polymorphonuclear cells, particularly eosinophils

• 2/9 gallbladder walls had a vacuolated appearance with inflammatory cells present

liver/biliary system

abnormal bile duct morphology ( J:32766 )

• one animal showed focal biliary cirrhosis, with biliary ducts absent and replaced with fibrotic stroma and inflammatory infiltrate

bile duct epithelium hyperplasia ( J:32766 )

• 3/15 animals showed hyperplasia of the bile duct epithelia

enlarged gallbladder ( J:32766 )

• gallbladder appears black and enlarged

gallbladder inflammation ( J:32766 )

• 5/9 gallbladders showed a presence of large numbers of polymorphonuclear cells, particularly eosinophils

• 2/9 gallbladder walls had a vacuolated appearance with inflammatory cells present

abnormal hepatocyte morphology ( J:32766 )

• one animal showed bile pigments in the hepatocytes

mortality/aging

postnatal lethality, incomplete penetrance ( J:32766 )

• only 27% of homozygous animals survive to 35 days of age

reproductive system

reproductive system phenotype ( J:32766 )

N • reproductive tract appears normal in all animals examined

respiratory system

respiratory system phenotype ( J:32766 )

N • no morphological abnormalities were detected in the lung, tracheal epithelium or pharyx

decreased respiratory epithelial chloride transmembrane transport ( J:32766 )

• baseline potential difference (PD) and response to forskolin were significantly increased in nasal epithelium

decreased respiratory epithelial sodium ion transmembrane transport ( J:32766 )

• baseline potential difference (PD) and response to amiloride were significantly increased in nasal epithelium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:32766