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Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype phenotype correlations

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  • S. J. Delaney
  • Ewfw Alton
  • S. N. Smith
  • D. P. Lunn
  • R. Farley
  • P. K. Lovelock
  • S. A. Thomson
  • D. A. Hume
  • D. Lamb
  • D. J. Porteous
  • J. R. Dorin
  • B. J. Wainwright

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Original languageEnglish
Pages (from-to)955-963
Number of pages9
JournalEMBO Journal
Volume15
Issue number5
Publication statusPublished - 1996

Abstract

We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure, These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients, The G551D mutant mice show greatly reduced CFTR-related chloride transport, displaying activity intermediate between that of cftr(m1UNC) replacement ('null') and cftr(m1HGU) insertional (residual activity) mutants and equivalent to similar to 4% of wild-type CFTR activity, The long-term survival of these animals should provide an excellent model with which to study cystic fibrosis, and they illustrate the value of mouse models carrying relevant mutations for examining genotype-phenotype correlations.

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