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

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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 ~-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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Delaney, S. J., Alton, E. W. F. W., Smith, S. N., Lunn, D. P., Farley, R., Lovelock, P. K., … Wainwright, B. J. (1996). Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. EMBO Journal, 15(5), 955–963. https://doi.org/10.1002/j.1460-2075.1996.tb00432.x

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