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Cell Type-Specific Contributions to the TSC Neuropathology

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[Technical Report, Annual Report]

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Rutgers, the State University of New Jersey

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Mutations in the human TSC2 gene cause tuberous sclerosis complex TSC, a developmental disorder characterized by tumor susceptibility and neurological manifestations. To better understand the disease we generated an animal model in which the mouse Tsc2 gene is disrupted exclusively in excitatory neurons of the forebrain. We plan to investigate how heterozygous and 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 of heterozygous 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, whereas homozygous loss disrupts the maturation of excitatory neurons.

Subject Categories:

  • Medicine and Medical Research

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[A, Approved For Public Release]