Ontology highlight
ABSTRACT:
SUBMITTER: Lin JI
PROVIDER: S-EPMC7297812 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Lin Jiuann-Huey I JI Feinstein Timothy N TN Jha Anupma A McCleary Jacob T JT Xu Juan J Arrigo Angelo B AB Rong Grace G Maclay Lindsey M LM Ridge Taylor T Xu XinXiu X Lo Cecilia W CW
Communications biology 20200616 1
The recent recovery of mutations in vesicular trafficking genes causing congenital heart disease (CHD) revealed an unexpected role for the endocytic pathway. We now show that mice with a C4232R missense mutation in Low density lipoprotein receptor related protein 1 (LRP1) exhibit atrioventricular septal defects with double outlet right ventricle. Lrp1<sup>m/m</sup> mice exhibit shortened outflow tracts (OFT) and dysmorphic hypocellular cushions with reduced proliferation and increased apoptosis. ...[more]