Cited by 35Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchNeuroscience and Neuropharmacology Research

Beyond widespread Mecp2 deletions to model Rett syndrome: conditional spatio-temporal knockout, single-point mutations and transgenic rescue mice

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Li, Wei·2012·Autism- Open Access

Abstract

and their use for establishing rescue models, wherein we pay close attention to behavioral and morphological phenotypes.

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  • Conditional deletions of Mecp2 in different subsets of neurons highlight the essential role of MeCP2 in neuronal function, yet their milder presentation suggests additional roles outside the central nervous system.

    “A number of conditional deletions in different subsets of neurons highlight the essential role of MeCP2 in neuronal function, yet their milder presentation suggests additional roles outside the CNS (reviewed in [143]).”

    From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [143]

    The Specific Spatio-Temporal Deletions section reports that forebrain-neuron Mecp2 deletion produces a milder phenotype and that deletion in other neuronal subsets causes neurological symptoms. It does not infer from those milder phenotypes that MeCP2 has roles outside the CNS. The Widespread Mecp2 Deletions section instead reports that brain-specific deletion in neuronal and glial lineages produces a phenotype similar to widespread deficiency. (LLM, conf=0.86)

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References 92 · Cited by 35

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Authors
Li, W.
Affiliations
Civitan International (US)
Corresponding author
Li, Wei
Venue
Autism- Open Access
Published
2012
Volume
01
Issue
S1
Pages
5-5
ISSN
2165-7890 (ISSN-L)
OpenAlex
W2116602562
Cited by
35
References
92
Citations by year
2026: 2 · 2024: 1 · 2022: 5 · 2021: 5 · 2020: 2 · 2019: 7 · 2018: 3 · 2017: 1 · 2016: 3 · 2015: 2 · 2014: 3 · 2013: 1
FWCI
1.16
Type
journal article
Language
en
Open access
Locations
  • Autism - Open Access (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health
  • National Institute of Neurological Disorders and Stroke (R01NS065027, R01NS040593)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD038985, R21HD074418)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Keywords
Rett syndrome, MeCP2, conditional knockout, point mutations, behavioral phenotypes, morphological phenotypes, mouse model

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