ABCMdb

PMID: 15039235

Durie PR, Kent G, Phillips MJ, Ackerley CA
Characteristic multiorgan pathology of cystic fibrosis in a long-living cystic fibrosis transmembrane regulator knockout murine model.
Am J Pathol. 2004 Apr;164(4):1481-93., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCC7 p.Gly551Asp ABCC7 p.Arg117His The first murine model of CF was established by gene targeting of embryonic stem cells to disrupt the murine cftr gene.15 Other murine models have been developed to model human mutations, including the most common CFTR gene mutation ⌬F508 (confers loss of phenylalanine) and models carrying common missense mutations (G551D, R117H).16 -20 Most of these animals develop a range of intestinal pathology that may cause fatal complications after bowel obstruction at birth or when weaned to solid chow. Login to comment 298 ABCC7 p.Gly551Asp Delaney SJ, Alton EW, Smith SN, Lunn DP, Farley R, Lovelock PK, Thomson SA, Hume DA, Lamb D, Porteous DJ, Dorin JR, Wainwright BJ: Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. Login to comment 303 ABCC7 p.Gly480Cys Dickinson P: Generation of a CF mutant mouse possessing the G480C mutation. Login to comment 332 ABCC7 p.Gly551Asp Thomas GR, Costelloe EA, Lunn DP, Stacey KJ, Delaney SJ, Passey R, McGlinn EC, McMorran BJ, Ahadizadeh A, Geczy CL, Wainwright BJ, Hume DA: G551D cystic fibrosis mice exhibit abnormal regulation of inflammation in lungs and macrophages. Login to comment