Publication:

Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique (2004)

Author(s): Schneider JE, Bose J, Bamforth SD, Gruber AD, Broadbent C, Clarke K, Neubauer S, Lengeling A, Bhattacharya S

  • : Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique

Abstract: BACKGROUND: Congenital heart defects are the leading non-infectious cause of death in children. Genetic studies in the mouse have been crucial to uncover new genes and signaling pathways associated with heart development and congenital heart disease. The identification of murine models of congenital cardiac malformations in high-throughput mutagenesis screens and in gene-targeted models is hindered by the opacity of the mouse embryo. RESULTS: We developed and optimized a novel method for high-throughput multi-embryo magnetic resonance imaging (MRI). Using this approach we identified cardiac malformations in phosphatidylserine receptor (Ptdsr) deficient embryos. These included ventricular septal defects, double-outlet right ventricle, and hypoplasia of the pulmonary artery and thymus. These results indicate that Ptdsr plays a key role in cardiac development. CONCLUSIONS: Our novel multi-embryo MRI technique enables high-throughput identification of murine models for human congenital cardiopulmonary malformations at high spatial resolution. The technique can be easily adapted for mouse mutagenesis screens and, thus provides an important new tool for identifying new mouse models for human congenital heart diseases.

  • Short Title: Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique
  • Date: 22-12-2004
  • Journal: BMC Developmental Biology
  • Volume: 4
  • Issue: 1
  • Pages: 16
  • Publisher: BioMed Central Ltd.
  • Publication type: Article
  • Bibliographic status: Published

Keywords: Animals DiGeorge Syndrome/diagnosis Heart Defects, Congenital/*diagnosis/*etiology/genetics Heart Septal Defects, Ventricular/diagnosis Heart Ventricles/abnormalities/pathology Magnetic Resonance Imaging Mice Mice, Knockout Models, Animal Mutagenesis Receptors, Cell Surface/*deficiency/genetics Research Support, Non-U.S. Gov't

Staff

Dr Simon Bamforth
BHF Intermediate Research Fellow