ABCMdb

PMID: 18450781

Bonvin E, Le Rouzic P, Bernaudin JF, Cottart CH, Vandebrouck C, Crie A, Leal T, Clement A, Bonora M
Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice.
J Physiol. 2008 Jul 1;586(13):3231-43. Epub 2008 May 1., 2008-07-01 [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCC7 p.Ser489* Although CFTR-deficient mice do not develop classical lung disease, some alterations in pulmonary function have been reported in Cftrtm1Unc knockout mice homozygous for the S489X mutation (Cftr-/- ) (Kent et al. 1996; Cohen et al. 2004). Login to comment 32 ABCC7 p.Ser489* Animals The study was carried out on two different CF mouse models: (1) Cftrtm1Unc knockout mice homozygous for the S489X-CFTR mutation (Snouwaert et al. 1992), back-crossed into C57BL/6 (three generations) (Cftr-/- ) and their normal littermates (Cftr+/+ ). Login to comment 42 ABCC7 p.Ser489* We also performed experiments on newborn homozygous mice for both mutations (S489X and F508del) and their control littermates at 1 day postnatal. Login to comment 144 ABCC7 p.Ser489* The high rate of tracheal abnormalities in adult Cftr-/- mice homozygous for the S489X mutation of the CFTR protein, in contrast to that observed in control Cftr+/+ mice, suggests that these abnormalities could be directly Table 2. Login to comment