Mouse Genome Informatics
hm
    Cftrtm1Unc/Cftrtm1Unc
involves: 129P2/OlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• many die during the first 5 days of postnatal development
• surviving mutants die by 40 days of age, with most dying during the week after weaning

growth/size
• glands in the nasal mucosa exhibit dilation of ducts but no acinar hyperplasia
• remain 10-50% smaller throughout life
• distended abdomen precedes death

digestive/alimentary system
• distension of the proximal segments of the intestine is seen in mutants with severe intestinal obstruction
• observe dark fecal matter in the intestine and peritoneal cavity and perforation of the intestine
• most of the Brunner's gland is destroyed and the lumens of many of the remaining ducts are distended
• severity of damage in the crypts follows a proximal to distal gradient, with mildest changes in the duodenum and most extreme changes in the ileum and colon
• dilation of crypts and formation of concretions and cast-like structures that extend the entire length of the crypts and villi, with crypts and villi almost completely destroyed in some cases
• distended crypts contain increased amounts of mucus and are even present in ileum and colon of mutants without intestinal obstructions
• cecum is coiled and worm-like in appearance and the lumen is narrowed and partially or completely impacted with hard, sticky fecal pellets
• narrowing of the colon is seen in mutants with severe intestinal obstruction
• submaxillary glands show varying degrees of disruption of the serous acini, however observe no dilation of ducts or presence of inspissated material in ducts
• some mutants develop severe intestinal obstruction and meconium ileus consisting of a mixture of mucus and fecal material
• ileum is the common site of obstruction in mice dying just after weaning while the large intestine is in mice dying more than a few days after weaning
• develop peritonitis

endocrine/exocrine glands
• presence of inspissated secretions in various glands
• most of the Brunner's gland is destroyed and the lumens of many of the remaining ducts are distended
• severity of damage in the crypts follows a proximal to distal gradient, with mildest changes in the duodenum and most extreme changes in the ileum and colon
• dilation of crypts and formation of concretions and cast-like structures that extend the entire length of the crypts and villi, with crypts and villi almost completely destroyed in some cases
• distended crypts contain increased amounts of mucus and are even present in ileum and colon of mutants without intestinal obstructions
• submaxillary glands show varying degrees of disruption of the serous acini, however observe no dilation of ducts or presence of inspissated material in ducts
• gallbladders are distended or ruptured, however no lesions are observed in the liver
• mutants with intestinal obstructions exhibit almost complete destruction of the gallbladder wall with some polymorphonuclear cells presen
• dramatic alterations are not observed in the pancreas, however it is often smaller and paler and 2 of 5 mutants exhibit one or two lobes that contain some enlarged acini and contain eosinophilic material
• often smaller
• mutants present with thymic involution after development of intestinal obstruction

immune system
• develop peritonitis
• mutants present with thymic involution after development of intestinal obstruction
• hypocellularity of the spleen is seen after the development of intestinal obstruction

liver/biliary system
• gallbladders are distended or ruptured, however no lesions are observed in the liver
• mutants with intestinal obstructions exhibit almost complete destruction of the gallbladder wall with some polymorphonuclear cells presen

respiratory system
• glands in the nasal mucosa exhibit dilation of ducts but no acinar hyperplasia
• increased numbers of goblet cells in the respiratory tract
• observe squamous metaplasia in the trachea of the oldest surviving mice
• glands in the proximal trachea exhibit dilation of the ducts

behavior/neurological
• awkward gait precedes death

hematopoietic system
• mutants present with thymic involution after development of intestinal obstruction
• hypocellularity of the spleen is seen after the development of intestinal obstruction

reproductive system
• a successful mating of one female that survived to maturity did not result in pregnancy, possibly indicating infertility, however males exhibit no abnormalities of reproductive organs (J:2079)

craniofacial
• glands in the nasal mucosa exhibit dilation of ducts but no acinar hyperplasia

Mouse Models of Human Disease
OMIM IDRef(s)
Cystic Fibrosis; CF 219700 J:2079