Mouse model for the delta F508 allele of cystic fibrosis

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Publication Type Journal Article
School or College College of Science; School of Medicine
Department Internal Medicine; Oncological Sciences; Human Genetics; Pathology; Biology
Program Institute of Human Genetics; Howard Hughes Medical Institute (HHMI)
Creator Eichwald, Ernst; Capecchi, Mario R.; Thomas, Kirk R.
Other Author Zeiher, Bernhardt G.; Zabner, Joseph; Smith, Jeffery J.; Puga, Aurita P.; McCray, Paul B. Jr.; Welsh, Michael J.
Title Mouse model for the delta F508 allele of cystic fibrosis
Date 1995-10
Description 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.
Type Text
Publisher The American Society for Clinical Investigation (ASCI)
Volume 96
Issue 4
First Page 2051
Last Page 2064
Subject Digestive System; Disease Models, Animal; Electrolytes; Mice, Inbred C57BL
Subject MESH Alleles; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator
Language eng
Bibliographic Citation J Clin Invest. 1995 Oct;96(4):2051-64: Zeiher BG, Eichwald E, Zabner J, Smith JJ, Puga AP, McCray PB Jr, Capecchi MR, Welsh MJ, Thomas KR. A mouse model for the delta F508 allele of cystic fibrosis. Retrieved on September 15.2006 from http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=7560099
Rights Management Copyright 1995 by American Society for Clinical Investigation, Inc.
Format Medium application/pdf
Identifier ir-main,412
ARK ark:/87278/s6rx9wd6
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2012-06-13
ID 704832
Reference URL https://collections.lib.utah.edu/ark:/87278/s6rx9wd6
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