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Allele : Cftr<tm1Cam> cystic fibrosis transmembrane conductance regulator; targeted mutation 1, University of Cambridge

Primary Identifier  MGI:1857544 Allele Type  Targeted
Attribute String  Null/knockout Gene  Cftr
Transmission  Germline Strain of Origin  129S/SvEv-Gpi1<c>
Is Recombinase  false Is Wild Type  false
description  The multidrug resistance gene Abcb1b is upregulated in mutant mice (J:39502). Liposome-mediated transfection of a vector containing the human CFTR gene into the lungs of these mutant mice corrected the conductance defect in airway epithelium (J:14625).

While heterozygous Cftrtm1Unc mice secrete half the wild-type amount of intestinal fluid in response to cholera toxin, no evidence for this has been found in ileal or colonic epithelium of heterozygous Cftrtm1Cam mice (J:23238). The Cftrtm1Unc response has been proposed as an advantage for heterozygotes, providing protection from the dehydration resulting from cholera. A similar effect of the human CFTR mutation might account for the high frequency of mutant genes in the human population (J:20778).

molecularNote  A 3.2 kb human HPRT minigene was inserted into exon 11.
  • mutations:
  • Insertion
  • synonyms:
  • cftr<m1Cam>,
  • CAM,
  • CAM,
  • cftr<m1Cam>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

50 Publication categories

Trail: Allele