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Abstract #1043

Phenotyping a Novel Mouse Model of Congenital Heart Disease Using μMRI

Jon Orlando Cleary1,2, Francesca C. Norris3,4, Karen McCue5, Anthony N. Price3, Sarah Beddow5, Roger J. Ordidge2,6, Peter J. Scambler5, Mark F. Lythgoe3

1Centre for Advanced Biomedical Imaging, Department of Medicine and UCL Institute of Child Health , University College London, London, United Kingdom; 2Department of Medical Physics and Bioengineering, University College London, London, United Kingdom; 3Centre for Advanced Biomedical Imaging, Department of Medicine and UCL Institute of Child Health, University College London, London, United Kingdom; 4Centre for Mathematics and Physics in the Life Sciences and EXperimental Biology (CoMPLEX), University College London, London, United Kingdom; 5Molecular Medicine Unit, UCL Institute of Child Health, University College London, London, United Kingdom; 6Wellcome Trust Advanced MRI Laboratory, University College London, London, United Kingdom


CHARGE and DiGeorge syndromes are conditions associated with haploinsufficiency of specific genes (CHD7 and TBX1) and are characterised by cardiovascular defects. Knockout mice are an important tool in genetic studies, allowing genes implicated in congenital defects to be identified and characterised. Micro-MRI is an emerging technique for high-resolution cardiac phenotyping, enabling the acquisition of 3D images of multiple embryo in a single scan. Given the phenotypic overlap of these conditions, we examined heart morphology in novel double-knockout mouse embryos (Chd7+/-Tbx1+/-), performing an assessment using MRI. In particular, we identified an increased incidence of ventricular septal defects in these mice.

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