Phenotypes associated with this allele

• Allele Symbol: Cftr^tm1.1Cwr
• Allele Name: targeted mutation 1.1, Case Western Reserve University
• Allele ID: MGI:3822761
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cftr^tm1.1Cwr/Cftr^tm1.1Cwr	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:3822763

Genotype
MGI:3822763

hm1

• Allelic Composition: Cftr^tm1.1Cwr/Cftr^tm1.1Cwr
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:142723 )

• only 32% of mice survive to day 40

postnatal lethality, incomplete penetrance ( J:142723 )

• death occured from birth, with many dying at weaning age (20-30 days) due to intestinal obstruction

respiratory system

decreased respiratory epithelial chloride transmembrane transport ( J:142723 )

• following treatment with a chloride-free solution containing forskolin, nasal epithelium potential difference is not changed as in similarly treated wild-type mice

digestive/alimentary system

abnormal intestinal goblet cell morphology ( J:142723 )

• mice exhibit goblet hyperplasia in the intestine and increased luminal mucus accumulation compared to in wild-type mice

intestinal mucus accumulation ( J:142723 )

intestinal obstruction ( J:142723 )

• mice exhibit numerous intestinal blockages unlike in wild-type mice

decreased intestinal epithelial chloride transmembrane transport ( J:142723 )

• intestinal epithelium fails to exhibit an increase in short-circuit current after stimulation with forskolin and IBMX unlike wild-type cells

growth/size/body

postnatal growth retardation ( J:142723 )

• growth is reduced 17% to 39% compared to in wild-type mice

cellular

abnormal intestinal goblet cell morphology ( J:142723 )

• mice exhibit goblet hyperplasia in the intestine and increased luminal mucus accumulation compared to in wild-type mice