About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2177542
Allelic
Composition
Cftrtm1Hsc/Cftrtm1Hsc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cftrtm1Hsc mutation (0 available); any Cftr mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• increased intestinal mucosal thickness in small intestine and colon
• accumulation of secreted mucus in crypt lumina
• increase in goblet cell population in small intestine and colon
• increase in goblet cell population in small intestine and colon
• severe intestinal obstruction in class I mice (die in first week of life)
• severe intestinal obstruction in class I mice by mucus containing plug
• class II mice exhibit severe intestinal obstruction by mucus containing plug, with the ileum and jejunum the major sites of mucus accumulation with obstructive accumulation
• absence of cAMP-induced Cl- conductance in crypt cells isolated from ileal mucosa
• the A23187 calcium ionophore elicited an calcium-dependent Cl-selective current in ileal crypt cells in contrast to control cells
• A23187 calcium ionophore elicited a greater change in anion permeability in ileal crypts than in controls in mice on this genetic background, suggesting partial compensation of ion transport abnormalities caused by absence of Cftr in class III mice that survive past 6 weeks of age

endocrine/exocrine glands
• accumulation of secreted mucus in crypt lumina
• increase in goblet cell population in small intestine and colon

growth/size/body
• smaller than control littermates at 2-3 weeks of age compared to controls, but this difference was not seen at 8-12 weeks of age
• animals lose weight in the days preceding death
• Class I mice do not gain weight after birth

mortality/aging
• Background Sensitivity: death in the first week of life (class I mice) or by weaning (class II mice), incomplete penetrance
• Background Sensitivity: 29.7% survive past 6 weeks of age (class III mice)

respiratory system
• nasal potential difference in homozygotes is greater than controls
• greater amelioride-sensitive component of nasal potential difference suggests an increased sodium ion transport capacity in nasal epithelia
• greater amelioride-sensitive component of nasal potential difference suggests an increased sodium ion transport capacity in nasal epithelia

Mouse Models of Human Disease
OMIM ID Ref(s)
Cystic Fibrosis; CF 219700 J:31759


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/17/2016
MGI 6.05
The Jackson Laboratory