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

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...

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Format: Journal article
Published: BioMed Central 2004
Subjects:
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collection OXFORD
description 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 genetargeted 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.
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spelling oxford-uuid:41b98eaf-919d-466f-8976-e1714d94e49e2022-03-26T14:45:26ZIdentification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging techniqueJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:41b98eaf-919d-466f-8976-e1714d94e49eLife SciencesBiochemistryOxford University Research Archive - ValetBioMed Central2004Background: 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 genetargeted 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.
spellingShingle Life Sciences
Biochemistry
Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique
title Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique
title_full Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique
title_fullStr Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique
title_full_unstemmed Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique
title_short Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique
title_sort identification of cardiac malformations in mice lacking ptdsr using a novel high throughput magnetic resonance imaging technique
topic Life Sciences
Biochemistry