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Cftrtm1Cam
Targeted Allele Detail
Nomenclature
Symbol: Cftrtm1Cam
Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1, University of Cambridge
MGI ID: MGI:1857544
Synonyms: CAM, cftrm1Cam
Gene: Cftr  Location: Chr6:18170687-18322768 bp, + strand  Genetic Position: Chr6, 8.1 cM, cytoband A3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:2584
Parent Cell Line:  TG4 (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
    A 3.2 kb human HPRT minigene was inserted into exon 10. (J:23850)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cftr Mutation:  13 strains or lines available
Notes
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).

References
Original:  J:2584 Colledge WH, et al., Cystic fibrosis mouse with intestinal obstruction [letter]. Lancet. 1992 Sep 12;340(8820):680
All:  23 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory