ABCMdb

PMID: 16888286

Guilbault C, Saeed Z, Downey GP, Radzioch D
Cystic fibrosis mouse models.
Am J Respir Cell Mol Biol. 2007 Jan;36(1):1-7. Epub 2006 Aug 3., [PubMed]

Sentences

No. Mutations Sentence Comment

14 ABCC7 p.Gly551Asp Several CF mouse models have been generated using a method of gene targeting in embryonic stem cells to disrupt the endogenous CFTR gene. These models have established animal models for the two most common human mutations, ⌬F508 and G551D, among others. Login to comment 34 ABCC7 p.Gly551Asp ABCC7 p.Gly480Cys CYSTIC FIBROSIS MOUSE MODELS Mutation Usefulness CFTRtm1UNC Exon 10 replacement Survival rates, using a liquid-nutrient diet and colyte No CFTR mRNA detectable Transgenic mice containing FABP-hCFTR gene to correct intestinal disease Susceptibility to S. aureus, B. cepacia, P. aeruginosa Resistance to V. cholerae Congenic strain B6 (lung disease) and BALB/C CFTRtm1HGU Exon 10 insertional Susceptibility to S. aureus, B. cepacia, P.aeruginosa 10% of WT CFTR mRNA CFTRtm1CAM Exon 10 replacement Transgenic mice containing hCFTR gene to correct No CFTR mRNA detectable intestinal pathology Resistance to V. cholerae CFTRtm1BAY Exon 3 insertional duplication Ͻ 2% WT CFTR mRNA CFTRtm3BAY Exon 2 replacement No CFTR mRNA detectable CFTRtm1HSC Exon 1 replacement Modifying genes for meconium ileus No CFTR mRNA detectable CFTRtm1EUR ⌬F508 exon 10 insertional "hit and run" Mutant CFTR mRNA normal levels CFTRtm2CAM ⌬F508 exon 10 replacement Resistance to S. typhi Mutant CFTR mRNA 30% of WT levels CFTRtm1KTH ⌬F508 exon 10 replacement Susceptibility to P. aeruginosa Mutant CFTR mRNA Low in intestine CFTRtm1G551D G551D exon 11 replacement Susceptibility to P. aeruginosa Mutant CFTR mRNA 53% of WT levels CFTRtm2HGU G480C exon 10 insertional "hit and run" Mutant CFTR mRNA normal levels Definition of abbreviations: CFTR, cystic fibrosis transmembrane conductance regulator; WT, wild type. Login to comment 48 ABCC7 p.Gly551Asp The G551D mutation is a class III mutation, affecting the regulatory domain of the CFTR protein (18, 19). Login to comment 51 ABCC7 p.Gly480Cys The most recent mouse model was developed to mimic the human G480C mutation (20). Login to comment 52 ABCC7 p.Gly480Cys Dickinson and colleagues generated a G480C mouse model by inserting the mutation into exon 10 using a double homologous recombination technique. Login to comment 72 ABCC7 p.Gly551Asp Furthermore, none of the ⌬F508 or the G551D models exhibit any obvious pancreatic pathology (6, 7, 13, 16-18). Login to comment 93 ABCC7 p.Gly551Asp In the mice harboring the G551D mutation, about one-third of the animals exhibit inspissated eosinophilic material in the lumen of the pharyngeal submucosal glands. Login to comment