Article
Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.
The EMBO journal - 1 Mar 1996
Delaney S J, Alton E W, Smith S N, Lunn D P, Farley R, Lovelock P K, Thomson S A, Hume D A, Lamb D, Porteous D J, Dorin J R, Wainwright B J
Abstract excerpt
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...
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