Phenotypes Associated with This Genotype

Genotype
MGI:2177542

• Allelic Composition: Cftr^tm1Hsc/Cftr^tm1Hsc
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * CD-1

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

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:31759 )

• increased intestinal mucosal thickness in small intestine and colon

abnormal small intestine goblet cell morphology ( J:31759 )

• increase in goblet cell population in small intestine and colon

abnormal crypts of Lieberkuhn morphology ( J:31759 )

• accumulation of secreted mucus in crypt lumina

abnormal colon goblet cell morphology ( J:31759 )

• increase in goblet cell population in small intestine and colon

intestinal obstruction ( J:31759 )

• severe intestinal obstruction in class I mice (die in first week of life)

meconium ileus ( J:31759 )

• 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

abnormal small intestinal crypt cell physiology ( J:31759 )

• 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

abnormal crypts of Lieberkuhn morphology ( J:31759 )

• accumulation of secreted mucus in crypt lumina

abnormal colon goblet cell morphology ( J:31759 )

• increase in goblet cell population in small intestine and colon

growth/size/body

decreased body size ( J:31759 )

• 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

weight loss ( J:31759 )

• animals lose weight in the days preceding death

postnatal growth retardation ( J:31759 )

• Class I mice do not gain weight after birth

mortality/aging

postnatal lethality, incomplete penetrance ( J:31759 )

• 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

increased respiratory epithelial sodium ion transmembrane transport ( J:31759 )

• 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

cellular

abnormal colon goblet cell morphology ( J:31759 )

• increase in goblet cell population in small intestine and colon

abnormal small intestine goblet cell morphology ( J:31759 )

• increase in goblet cell population in small intestine and colon

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:31759