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Abstract #2023

Phenotyping a Mouse Model of TRAPPC9 Associated Intellectual Disability with High Resolution MRI and Diffusion Tensor Imaging

Mark David Platt1, Antonius Plagge2, and Harish Poptani1
1Centre for Preclinical Imaging, University of Liverpool, Liverpool, United Kingdom, 2Cellular and Molecular Physiology, University of Liverpool, Liverpool, United Kingdom

Synopsis

Microcephaly and intellectual disability is associated with mutation of the TRAPPC9 gene. A knockout mouse model of TRAPPC9-associated intellectual disability and microcephaly was characterised using high resolution T1 and T2 weighted Magnetic Resonance Imaging (MRI) and Diffusion Tensor Imaging (DTI) alongside behavioural assays. Behavioural differences suggested learning impairment in the model, MRI elucidated the developmental timeline of the disorder and highlighted several brain regions with reduced volume. DTI revealed reduced structural integrity in the corpus callosum.

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