Advertisement

Research Article Free access | 10.1172/JCI118253

A mouse model for the delta F508 allele of cystic fibrosis.

B G Zeiher, E Eichwald, J Zabner, J J Smith, A P Puga, P B McCray Jr, M R Capecchi, M J Welsh, and K R Thomas

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by Zeiher, B. in: JCI | PubMed | Google Scholar

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by Eichwald, E. in: JCI | PubMed | Google Scholar

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by Zabner, J. in: JCI | PubMed | Google Scholar

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by Smith, J. in: JCI | PubMed | Google Scholar

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by Puga, A. in: JCI | PubMed | Google Scholar

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by McCray, P. in: JCI | PubMed | Google Scholar

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by Capecchi, M. in: JCI | PubMed | Google Scholar

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by Welsh, M. in: JCI | PubMed | Google Scholar

Howard Hughes Medical Institute, Department of Internal Medicine, University of Iowa College of Medicine, Iowa City 52242, USA.

Find articles by Thomas, K. in: JCI | PubMed | Google Scholar

First published October 1, 1995 - More info

Published in Volume 96, Issue 4 on October 1, 1995
J Clin Invest. 1995;96(4):2051–2064. https://doi.org/10.1172/JCI118253.
© 1995 The American Society for Clinical Investigation
First published October 1, 1995 - Version history
Abstract

The most common cause of cystic fibrosis is a mutation that deletes phenylalanine 508 in cystic fibrosis transmembrane conductance regulator (CFTR). The delta F508 protein is misprocessed and degraded rather than traveling to the apical membrane. We used a novel strategy to introduce the delta F508 mutation into the mouse CFTR gene. Affected epithelia from homozygous delta F508 mice lacked CFTR in the apical membrane and were Cl-impermeable. These abnormalities are the same as those observed in patients with delta F508 and suggest that these mice have the same cellular defect. 40% of homozygous delta F508 animals survived into adulthood and displayed several abnormalities found in human disease and in CFTR null mice. These animals should provide an excellent model to investigate pathogenesis and to examine therapies directed at correcting the delta F508 defect.

Images.

Browse pages

Click on an image below to see the page. View PDF of the complete article

Version history
  • Version 1 (October 1, 1995): No description
Advertisement
Advertisement