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Gene Review

Cftr  -  cystic fibrosis transmembrane conductance...

Mus musculus

Synonyms: ATP-binding cassette sub-family C member 7, AW495489, Abcc7, CFTR, Channel conductance-controlling ATPase, ...
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Disease relevance of Cftr


High impact information on Cftr


Chemical compound and disease context of Cftr


Biological context of Cftr


Anatomical context of Cftr

  • In addition, a novel 5'-untranslated exon of murine Cftr , denoted exon -1, was identified and shown to be expressed exclusively in mouse testis [12].
  • After 3 months of age the vas deferens of the Cftr(-/-) animals could not be identified [4].
  • The intercalated, intralobular and interlobular ducts and acinar lumina of the exocrine pancreas, the parotid and submaxillary glands of the Cftr(-/-) animals were dilated and filled with inspissated material, as well as mild inflammation and acinar cell drop out [4].
  • The intestines of Cftr deficient mice (CF mice: Cftrtm1Unc) are prone to obstruction by excessive mucus accumulation and are used as a model of meconium ileus and distal intestinal obstruction syndrome [16].
  • We propose that CFTR regulates the renal K secretory channel by providing a PKA-regulated functional switch that determines the distribution of open and ATP-inhibited K channels in apical membranes [10].

Associations of Cftr with chemical compounds

  • There were no significant differences (P = 0.35) in cumulative survival rates between Cftr-knockout mice and wild-type mice provided with either the liquid diet Peptamen or Peptamen containing docosahexaenoic acid [8].
  • BrcAMP and forskolin alone induced higher amylase secretion (% initial amylase content) in the Cftr+/+ acini than carbachol (p < 0.05) [17].
  • The residual response in Cftr-null mice could be attributed to electrogenic ASBT activity, as it matched the TC-coupled absorptive Na+ flux [18].
  • This response was sensitive to bumetanide and largely abrogated in Cftr-null mice, indicating that it predominantly reflects CFTR-mediated Cl- secretion [18].
  • Secreted mucins from Cftr((-/-)) cells contained higher sulfate concentrations [14].

Physical interactions of Cftr


Regulatory relationships of Cftr

  • Our results indicate that Shank2 negatively regulates CFTR and that this may play a significant role in maintaining epithelial homeostasis under normal and diseased conditions such as those presented by secretory diarrhea [19].
  • Of interest is the finding that the ClC-2 mRNA is expressed about the same level in duodena from both CFTR knockout and wild-type mice [22].
  • We found that CFTR regulates NHE3 activity by both acute and chronic mechanisms [23].
  • Monoclonal and polyclonal antibodies recognizing COOH-terminal epitopes of CFTR show that duct and acinar cells from the two glands express CFTR in the luminal membrane [24].
  • These results are consistent with murine CFTR being a cAMP-activated chloride channel inhibited by glibenclamide and resistant to DIDS [25].

Other interactions of Cftr

  • These data provide further evidence supporting the hypothesis that the regulation Cftr and Mdr1 expression is co-ordinated in vivo, and that this co-ordinate regulation is influenced by temporal factors [13].
  • The disruption of ClC-2, in addition to CFTR, did not decrease Cl(-) secretion [26].
  • Moreover, the I(ATPCl) magnitude from wild-type animals was comparable to that from mice with null mutations in the Cftr, Clcn3 and Clcn2 Cl- channel genes [27].
  • Activation of CFTR by ASBT-mediated bile salt absorption [18].
  • Subsequent typing of the progeny of an interspecies backcross revealed that Cftr is closely linked to the proto-oncogene c-met locus (Met) in the centromeric region of mouse Chr 6, consistent with the observation that there is a conserved chromosomal segment on human chromosome 7 and mouse Chr 6 [28].

Analytical, diagnostic and therapeutic context of Cftr

  • Cftr knockout mice receiving gene therapy 7 days before Bcc challenge had less severe histopathology, and the number of lung bacteria was reduced to the level seen in Cftr+/+ littermates [29].
  • Quantitative immunoblotting demonstrated a trend toward lower MUC1, MUC2, MUC3, MUC5AC, and MUC5B mucin levels in Cftr((-/-)) cells compared with cells from wild-type mice [14].
  • The results for Cftr+/- and Cftr+/+ were pooled into one control group because they did not differ [9].
  • We show that the partial duplication consequent upon insertional gene targeting allows exon skipping and aberrant splicing to produce normal Cftr mRNA, but at levels greatly reduced compared with wild-type mice [30].
  • In order to bypass this time consuming procedure we devised an alternative PCR based protocol whereby mouse strains are differentiated at the Cftr locus by Cftr intragenic microsatellite genotypes that are tightly linked to the disrupted locus [31].


  1. Generation and characterization of a delta F508 cystic fibrosis mouse model. Colledge, W.H., Abella, B.S., Southern, K.W., Ratcliff, R., Jiang, C., Cheng, S.H., MacVinish, L.J., Anderson, J.R., Cuthbert, A.W., Evans, M.J. Nat. Genet. (1995) [Pubmed]
  2. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Rozmahel, R., Wilschanski, M., Matin, A., Plyte, S., Oliver, M., Auerbach, W., Moore, A., Forstner, J., Durie, P., Nadeau, J., Bear, C., Tsui, L.C. Nat. Genet. (1996) [Pubmed]
  3. A proinflammatory, antiapoptotic phenotype underlies the susceptibility to acute pancreatitis in cystic fibrosis transmembrane regulator (-/-) mice. Dimagno, M.J., Lee, S.H., Hao, Y., Zhou, S.Y., McKenna, B.J., Owyang, C. Gastroenterology (2005) [Pubmed]
  4. Characteristic multiorgan pathology of cystic fibrosis in a long-living cystic fibrosis transmembrane regulator knockout murine model. Durie, P.R., Kent, G., Phillips, M.J., Ackerley, C.A. Am. J. Pathol. (2004) [Pubmed]
  5. Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Delaney, S.J., Rich, D.P., Thomson, S.A., Hargrave, M.R., Lovelock, P.K., Welsh, M.J., Wainwright, B.J. Nat. Genet. (1993) [Pubmed]
  6. Production of a severe cystic fibrosis mutation in mice by gene targeting. Ratcliff, R., Evans, M.J., Cuthbert, A.W., MacVinish, L.J., Foster, D., Anderson, J.R., Colledge, W.H. Nat. Genet. (1993) [Pubmed]
  7. A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction. Dorin, J.R., Farley, R., Webb, S., Smith, S.N., Farini, E., Delaney, S.J., Wainwright, B.J., Alton, E.W., Porteous, D.J. Gene Ther. (1996) [Pubmed]
  8. Nutritional effects on host response to lung infections with mucoid Pseudomonas aeruginosa in mice. van Heeckeren, A.M., Schluchter, M., Xue, L., Alvarez, J., Freedman, S., St George, J., Davis, P.B. Infect. Immun. (2004) [Pubmed]
  9. Ventilatory responses to hypercapnia and hypoxia in conscious cystic fibrosis knockout mice Cftr-/-. Bonora, M., Bernaudin, J.F., Guernier, C., Brahimi-Horn, M.C. Pediatr. Res. (2004) [Pubmed]
  10. CFTR is required for PKA-regulated ATP sensitivity of Kir1.1 potassium channels in mouse kidney. Lu, M., Leng, Q., Egan, M.E., Caplan, M.J., Boulpaep, E.L., Giebisch, G.H., Hebert, S.C. J. Clin. Invest. (2006) [Pubmed]
  11. Developmental expression of a mucinlike glycoprotein (MUCLIN) in pancreas and small intestine of CF mice. De Lisle, R.C., Petitt, M., Isom, K.S., Ziemer, D. Am. J. Physiol. (1998) [Pubmed]
  12. Tissue-specific in vivo transcription start sites of the human and murine cystic fibrosis genes. White, N.L., Higgins, C.F., Trezise, A.E. Hum. Mol. Genet. (1998) [Pubmed]
  13. Co-ordinate regulation of the cystic fibrosis and multidrug resistance genes in cystic fibrosis knockout mice. Trezise, A.E., Ratcliff, R., Hawkins, T.E., Evans, M.J., Freeman, T.C., Romano, P.R., Higgins, C.F., Colledge, W.H. Hum. Mol. Genet. (1997) [Pubmed]
  14. Absence of CFTR is associated with pleiotropic effects on mucins in mouse gallbladder epithelial cells. Kuver, R., Wong, T., Klinkspoor, J.H., Lee, S.P. Am. J. Physiol. Gastrointest. Liver Physiol. (2006) [Pubmed]
  15. Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. van Heeckeren, A.M., Schluchter, M.D., Drumm, M.L., Davis, P.B. Am. J. Physiol. Lung Cell Mol. Physiol. (2004) [Pubmed]
  16. Potential genetic modifiers of the cystic fibrosis intestinal inflammatory phenotype on mouse chromosomes 1, 9, and 10. Norkina, O., De Lisle, R.C. BMC Genet. (2005) [Pubmed]
  17. Synergistic effects of cAMP- and calcium-mediated amylase secretion in isolated pancreatic acini from cystic fibrosis mice. Tang, S., Beharry, S., Kent, G., Durie, P.R. Pediatr. Res. (1999) [Pubmed]
  18. Activation of CFTR by ASBT-mediated bile salt absorption. Bijvelds, M.J., Jorna, H., Verkade, H.J., Bot, A.G., Hofmann, F., Agellon, L.B., Sinaasappel, M., de Jonge, H.R. Am. J. Physiol. Gastrointest. Liver Physiol. (2005) [Pubmed]
  19. Inhibitory regulation of cystic fibrosis transmembrane conductance regulator anion-transporting activities by Shank2. Kim, J.Y., Han, W., Namkung, W., Lee, J.H., Kim, K.H., Shin, H., Kim, E., Lee, M.G. J. Biol. Chem. (2004) [Pubmed]
  20. P2Y purinergic receptor regulation of CFTR chloride channels in mouse cardiac myocytes. Yamamoto-Mizuma, S., Wang, G.X., Hume, J.R. J. Physiol. (Lond.) (2004) [Pubmed]
  21. Antioxidant imbalance in the lungs of cystic fibrosis transmembrane conductance regulator protein mutant mice. Velsor, L.W., van Heeckeren, A., Day, B.J. Am. J. Physiol. Lung Cell Mol. Physiol. (2001) [Pubmed]
  22. Cloning of ClC-2 chloride channel from murine duodenum and its presence in CFTR knockout mice. Joo, N.S., Clarke, L.L., Han, B.H., Forte, L.R., Kim, H.D. Biochim. Biophys. Acta (1999) [Pubmed]
  23. Regulatory interaction between the cystic fibrosis transmembrane conductance regulator and HCO3- salvage mechanisms in model systems and the mouse pancreatic duct. Ahn, W., Kim, K.H., Lee, J.A., Kim, J.Y., Choi, J.Y., Moe, O.W., Milgram, S.L., Muallem, S., Lee, M.G. J. Biol. Chem. (2001) [Pubmed]
  24. Immuno and functional characterization of CFTR in submandibular and pancreatic acinar and duct cells. Zeng, W., Lee, M.G., Yan, M., Diaz, J., Benjamin, I., Marino, C.R., Kopito, R., Freedman, S., Cotton, C., Muallem, S., Thomas, P. Am. J. Physiol. (1997) [Pubmed]
  25. Inactivation of the murine cftr gene abolishes cAMP-mediated but not Ca(2+)-mediated secretagogue-induced volume decrease in small-intestinal crypts. Valverde, M.A., O'Brien, J.A., Sepúlveda, F.V., Ratcliff, R., Evans, M.J., Colledge, W.H. Pflugers Arch. (1993) [Pubmed]
  26. Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models. Zdebik, A.A., Cuffe, J.E., Bertog, M., Korbmacher, C., Jentsch, T.J. J. Biol. Chem. (2004) [Pubmed]
  27. A novel chloride conductance activated by extracellular ATP in mouse parotid acinar cells. Arreola, J., Melvin, J.E. J. Physiol. (Lond.) (2003) [Pubmed]
  28. Expression and chromosome localization of the murine cystic fibrosis transmembrane conductance regulator. Kelley, K.A., Stamm, S., Kozak, C.A. Genomics (1992) [Pubmed]
  29. Protection of Cftr knockout mice from acute lung infection by a helper-dependent adenoviral vector expressing Cftr in airway epithelia. Koehler, D.R., Sajjan, U., Chow, Y.H., Martin, B., Kent, G., Tanswell, A.K., McKerlie, C., Forstner, J.F., Hu, J. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  30. Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression. Dorin, J.R., Stevenson, B.J., Fleming, S., Alton, E.W., Dickinson, P., Porteous, D.J. Mamm. Genome (1994) [Pubmed]
  31. Instability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse model. Charizopoulou, N., Jansen, S., Dorsch, M., Stanke, F., Dorin, J.R., Hedrich, H.J., Tümmler, B. BMC Genet. (2004) [Pubmed]
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