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Chunk #32 — 3. Overview of Monogenic Mouse Models of ASDs — 3.2 Post-Transcriptional Protein Modifiers or Regulators: Fmr1, Tsc1/2, Ube3a, and Pten — 3.2.3 Pten (PTEN hamartoma tumor syndromes and non-syndromic ASDs)

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Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.
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cerebellum and neurons in the dentate gyrus of the hippocampus (Gfap-Cre; Lugo et al., 2014). Another mouse model of PTEN-related ASD (Ptenm3m4) was created by knocking in missense mutations which decrease the amount of nuclear Pten (Tilot et al., 2014). Interestingly, only male mice with the missense mutations display increased social behavior, as opposed to the decreased social behavior observed in other mouse models of ASDs (Tilot et al., 2014). While these particular missense mutations have not yet been reported in humans, mutations that similarly affect the subcellular localization of PTEN have been observed in PTHS patients.