Phenotypes Associated with This Genotype

Genotype
MGI:2177533

• Allelic Composition: Cftr^tm1Bay/Cftr^tm1Bay
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:15244 )

• 40% died within 1 week after birth, 10% survived the immediate newborn period but died prior to weaning (3 weeks), and the rest survived for long periods

digestive/alimentary system

pancreatic acinar cell atrophy ( J:15244 )

• variable atrophy of acinar cells

abnormal intestine morphology ( J:15244 )

abnormal intestinal goblet cell morphology ( J:15244 )

• goblet cell hyperplasia in localized regions of 2-4 day old mice with intestinal obstruction and engorgement of goblet cells in 3-4 week old mice

crypts of Lieberkuhn abscesses ( J:15244 )

• sections of the intestine showed microabscess formation

dilated crypt of Lieberkuhn ( J:15244 )

• dilated crypts

intestinal ulcer ( J:15244 )

• sections of intestine showed ulceration

abnormal colon morphology ( J:15244 )

• by 3-4 weeks, colonic glands were dilated and by 6-8 weeks, filamentous amphophilic material (most likely mucus) was present in the glands of the middle to distal colon

intestinal mucus accumulation ( J:15244 )

• mucus accumulated in the large intestine

intestinal obstruction ( J:15244 )

• seen in 40%, consistently just proximal or just distal to the cecum

decreased intestinal epithelial chloride transmembrane transport ( J:15244 )

• cAMP stimulated Cl^- secretion was defective in the ileum

growth/size/body

enlarged gallbladder ( J:15244 )

• 2/8 of 3-4 week old mutant mice showed gross enlargement of the gall bladder

• however, liver, bile ducts and stomach were normal

weight loss ( J:15244 )

• 40% showed weight loss

cachexia ( J:15244 )

• some surviving mice were severely cachectic

postnatal growth retardation ( J:15244 )

• surviving mice showed reduced growth rate and averaged less than 70% of the body weight of controls at weaning

distended abdomen ( J:15244 )

• seen in some 2-4 day old mice

behavior/neurological

aphagia ( J:15244 )

• some newborns had not taken milk

endocrine/exocrine glands

abnormal gland morphology ( J:15244 )

• some 3-4 week old mutants showed dilation of acini in the mucosal glands of the pharynx and in the sublingual gland and accumulation of inspissated eosinophilic material in the mucosal glands

pancreatic acinar cell atrophy ( J:15244 )

• variable atrophy of acinar cells

crypts of Lieberkuhn abscesses ( J:15244 )

• sections of the intestine showed microabscess formation

dilated crypt of Lieberkuhn ( J:15244 )

• dilated crypts

lacrimal gland atrophy ( J:15244 )

• two 3-4 week old mutant mice showed mild focal atrophy in the extra-orbital lacrimal gland

• a 6 week old male displayed retention of intraluminal contents and mild atrophy in the lacrimal gland

enlarged gallbladder ( J:15244 )

• 2/8 of 3-4 week old mutant mice showed gross enlargement of the gall bladder

• however, liver, bile ducts and stomach were normal

acute pancreas inflammation ( J:15244 )

• some mutants showed acute inflammation with migration of segmented neurophils into the epithelial lining of the duct, however no inflammation or fibrosis of the pancreatic acinar tissue was observed

liver/biliary system

enlarged gallbladder ( J:15244 )

• 2/8 of 3-4 week old mutant mice showed gross enlargement of the gall bladder

• however, liver, bile ducts and stomach were normal

respiratory system

decreased respiratory epithelial chloride transmembrane transport ( J:15244 )

• cAMP-mediated Cl^- conductance was abnormal in tracheas

vision/eye

lacrimal gland atrophy ( J:15244 )

• two 3-4 week old mutant mice showed mild focal atrophy in the extra-orbital lacrimal gland

• a 6 week old male displayed retention of intraluminal contents and mild atrophy in the lacrimal gland

immune system

acute pancreas inflammation ( J:15244 )

• some mutants showed acute inflammation with migration of segmented neurophils into the epithelial lining of the duct, however no inflammation or fibrosis of the pancreatic acinar tissue was observed

cellular

abnormal intestinal goblet cell morphology ( J:15244 )

• goblet cell hyperplasia in localized regions of 2-4 day old mice with intestinal obstruction and engorgement of goblet cells in 3-4 week old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:15244