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Abstract #1210

Phenotyping a Mouse Model of TRAPPC9-Associated Intellectual Disability using Magnetic Resonance Imaging

Mark David Platt1, Harish Poptani1, Antonius Plagge2, and Mahon Maguire1
1Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, United Kingdom, 2Cellular and Molecular Physiology, University of Liverpool, Liverpool, United Kingdom

Loss of function mutations in the TRAPPC9 gene causes autosomal recessive intellectual disability and microcephaly. A mouse model was generated to investigate the effects of TRAPPC9 knockout in mice. In vivo and ex vivo MRI were used alongside behavioural tests to probe differences in brain volume and learning ability. In vivo MRI demonstrated significant differences between the whole brain, cerebellar and corpus callosum volumes of adult TRAPPC9 knockout mice and wildtype controls. Behavioural assays also revealed significant differences in learning ability. These results align with the human condition and suggest the model is appropriate for further study of TRAPPC9 knockout.

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