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Cell Type-Specific Contributions to the TSC Neuropathology

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Technical Report,01 Aug 2016,31 Jul 2017

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Rutgers, the State University of New Jersey New Brunswick United States

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Mutations in the human TSC2 gene cause tuberous sclerosis complex TSC, a developmental disorder characterized bytumor susceptibility and neurological manifestations. To better understand the disease we generated an animal model in whichthe mouse Tsc2 gene is disrupted exclusively in excitatory neurons of the forebrain. We plan to investigate how heterozygousand homozygous Tsc2 mutations affect the development of mutant excitatory neurons as well as other surrounding brain cells,in vivo and in vitro. During this first year of support we primarily focused on Major Task 1 In vivo characterization ofheterozygous and homozygous NEX-Tsc2 mice. Specifically, we performed Subtask 1 Animal breeding for in vivo studies,and nearly completed Subtask 3 Analysis of neuronal development and synaptogenesis. We studied the effects of Tsc2mutations on neuronal development and found that heterozygous loss of Tsc2 in the forebrain has no effect, whereashomozygous loss disrupts the maturation of excitatory neurons.

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