Phenotypes Associated with This Genotype

Genotype
MGI:2177536

• Allelic Composition: Cftr^tm1Kth/Cftr^tm1Kth
• 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:29074 )

• about 10% died within 7 days of birth and saw significant mortality around the time of weaning (30 days after birth), with 40% surviving postweaning for at least 8 months

digestive/alimentary system

abnormal intestine morphology ( J:29074 )

• mice that died prematurely showed evidence of bowel obstruction and bowel strictures, especially in the cecum

dilated Brunner's gland ( J:29074 )

• Brunner's glands were often dilated

abnormal jejunum morphology ( J:29074 )

• some mice exhibited large casts of mucus material in the jejunum, however lung, pancreas, gall bladder, male reproductive tract, lacrimal gland, and submandibular glands appeared normal

abnormal digestive system physiology ( J:29074 )

• lacked cAMP-stimulated Cl^- secretory current in intestine, indicating defective electrolyte transport

intestinal obstruction ( J:29074 )

• mice that died prematurely showed evidence of bowel obstruction

peritoneal inflammation ( J:29074 )

• mice that died prematurely showed peritonitis

growth/size/body

decreased body size ( J:29074 )

• reduced size noticeable as early as 10 days after birth

decreased body weight ( J:29074 )

• by weaning, weight was only 50-60% that of controls and although homozygous mutant mice continued to grow, they never reached the size of controls

homeostasis/metabolism

abnormal fluid regulation ( J:29074 )

• defective fluid transport in nasal, intestinal, and pancreatic duct epithelia

abnormal ion homeostasis ( J:29074 )

• defective electrolyte transport in nasal, intestinal, and pancreatic duct epithelia

immune system

peritoneal inflammation ( J:29074 )

• mice that died prematurely showed peritonitis

endocrine/exocrine glands

dilated Brunner's gland ( J:29074 )

• Brunner's glands were often dilated

abnormal pancreas physiology ( J:29074 )

• reduced absorption of fluid and lower cAMP-stimulated fluid secretion by pancreatic epithelia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:29074