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| Nomenclature |
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Symbol:
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Cftrtm1Cam
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Name:
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cystic fibrosis transmembrane conductance regulator;
targeted mutation 1, University of Cambridge
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MGI ID: |
MGI:1857544 |
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Synonyms: |
CAM, cftrm1Cam |
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Gene:
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Cftr
Location:
Chr6:18170687-18322768 bp, + strand
Genetic Position: Chr6,
8.1 cM, cytoband A3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:2584
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Parent Cell Line:
| TG4 (ES Cell) |
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Strain of Origin:
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129S/SvEv-Gpi1c
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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A 3.2 kb human HPRT minigene was inserted into exon 10. (J:23850)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Cftr Mutation:
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13 strains or lines available |
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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).
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| References |
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Original: |
J:2584
Colledge WH et al.,
"Cystic fibrosis mouse with intestinal obstruction [letter]"
Lancet 1992 Sep 12;340(8820):680
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All: |
22 reference(s)
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Analysis Tools
