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

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

Research output: Contribution to journalArticlepeer-review

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

Fingerprint

Dive into the research topics of 'Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype phenotype correlations'. Together they form a unique fingerprint.

Cite this