Chunk #24 — 3. Overview of Monogenic Mouse Models of ASDs — 3.2 Post-Transcriptional Protein Modifiers or Regulators: Fmr1, Tsc1/2, Ube3a, and Pten — 3.2.2 Tsc1/Tsc2 (Tuberous sclerosis complex)

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Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.

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Homozygous deletion of Tsc1 exons 6–8 (Kobayashi et al., 2001), Tsc1 exons 17–18 (Kwiatkowski et al., 2002), Tsc1 exons 5–7 (Wilson et al., 2005), Tsc2 exon 2 (Onda et al., 1999), or Tsc2 exons 2–5 (Kobayashi et al., 1999) in mice all result in embryonic lethality. However, heterozygous mice (Tsc1+/− or Tsc2+/−) from these constructs recapitulate many of the phenotypes of TSC observed in humans, including ASD-like behaviors (reviewed in Bey and Jiang, 2014).