Mouse Genome Informatics
hm
    Cftrtm1Bay/Cftrtm1Bay
involves: 129S7/SvEvBrd * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 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
• variable atrophy of acinar cells
• sections of the intestine showed microabscess formation
• 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
• sections of intestine showed ulceration
• mucus accumulated in the large intestine
• 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
• cAMP stimulated Cl- secretion was defective in the ileum
• seen in 40%, consistently just proximal or just distal to the cecum

growth/size/body
• 40% showed weight loss
• some surviving mice were severely cachectic
• surviving mice showed reduced growth rate and averaged less than 70% of the body weight of controls at weaning
• seen in some 2-4 day old mice

behavior/neurological
• some newborns had not taken milk

endocrine/exocrine glands
• 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
• variable atrophy of acinar cells
• sections of the intestine showed microabscess formation
• 2/8 of 3-4 week old mutant mice showed gross enlargement of the gall bladder
• however, liver, bile ducts and stomach were normal
• some 3-4 week old mutant mice showed mild focal atrophy in the extra-orbital lacrimal gland and one mouse showed mild atrophy in the lacrimal gland
• 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

homeostasis/metabolism
• cAMP stimulated Cl- secretion was defective in the ileum and cAMP-mediated Cl- conductance was abnormal in tracheas

liver/biliary system
• 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
• cAMP-mediated Cl- conductance was abnormal in tracheas

vision/eye
• some 3-4 week old mutant mice showed mild focal atrophy in the extra-orbital lacrimal gland and one mouse showed mild atrophy in the lacrimal gland

immune system
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Cystic Fibrosis; CF 219700 J:15244