Aberrant lung remodeling in a mouse model of surfactant dysregulation induced by modulation of the Abca3 gene.

ABSTRACT: The lipid transporter, ATP binding cassette class A3 (ABCA3), plays a critical role in the biogenesis of alveolar type 2 (AT2) cell lamellar bodies (LBs). A relatively large number of mutations in the ABCA3 gene have been identified in association with diffuse parenchymal lung disease (DPLD), the most common of which is a missense mutation (valine substitution for lysine at residue 292 (ABCA3^E292V)) that leads to functional impairment of the transporter in vitro. The consequences of ABCA3^E292V gene expression in vivo are unknown. To address this question, we developed mouse models expressing ABCA3^E292V knocked-in to the endogenous mouse locus. The parental (F1) mouse line (mAbca3^E292V) that retained an intronic pgk-Neo selec

SUBMITTER: Beers MF 

PROVIDER: S-EPMC5579840 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature