| First Author | Delaney SJ | Year | 1996 |
| Journal | EMBO J | Volume | 15 |
| Issue | 5 | Pages | 955-63 |
| PubMed ID | 8605891 | Mgi Jnum | J:32766 |
| Mgi Id | MGI:80255 | Citation | Delaney SJ, et al. (1996) Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. EMBO J 15(5):955-63 |
| abstractText | 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(mlUNC) replacement ('null') and cftr(mlHGU) insertional (residual activity) mutants and equivalent to approximately 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. |
