Cftr^tm1Cam
Targeted Allele Detail

Summary

• Symbol: Cftr^tm1Cam
• Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1, University of Cambridge
• MGI ID: MGI:1857544
• Synonyms: CAM, cftr^m1Cam
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^tm1Cam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:2584
• Parent Cell Line: TG4 (ES Cell)
• Strain of Origin: 129S/SvEv-Gpi1^c

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• A 3.2 kb human HPRT minigene was inserted into exon 11. (J:23850)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cftr Mutation: 97 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 Cftr^tm1Unc 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 Cftr^tm1Cam mice (J:23238). The Cftr^tm1Unc 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: 47 reference(s)