Chunk #17 — 3. Overview of Monogenic Mouse Models of ASDs — 3.2 Post-Transcriptional Protein Modifiers or Regulators: Fmr1, Tsc1/2, Ube3a, and Pten — 3.2.1 Fmr1 (Fragile X syndrome)
of the human mutation by deleting exon 5 (The Dutch-Belgian Fragile X Consortium, 1994) or exon 1 (Mientjes et al., 2006) of Fmr1. Almost all data related to fragile X syndrome mouse models in the literature have been generated from the exon 5 deletion mutant mice, but whereas both models have complete loss of FMRP expression, only the model produced by deleting exon 1 has no detectable Fmr1 mRNA and is conducive to conditional knockout studies.
