ReviewBrain research2020
Sex differences in Mecp2-mutant Rett syndrome model mice and the impact of cellular mosaicism in phenotype development.
Review in Brain research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 47 citations in OpenAlex.
- Rett syndrome: MECP2 biology, multisystem pathophysiology, and the evolving therapeutic landscape.European journal of pediatrics · 2026Review
- Neural peer pressure: intercellular dynamics and emergent phenotypes in the mosaic Rett syndrome brain.Cell communication and signaling : CCS · 2026Review
- Increased Osteoclast Activity Contributes to Bone Resorption and Osteopenia in a Rett Syndrome Mouse Model.Cells · 2026Article
- Mecp2 deficiency induces dysphagia in a preclinical model of Rett syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Loss of enteric BDNF-TrkB signaling and VIPergic dysfunction underlie gastrointestinal dysmotility in abioRxiv : the preprint server for biology · 2026Article
- The impact of X chromosome inactivation on human health.Frontiers in genetics · 2026Review
- Toward an NGF-based therapy for Rett syndrome.Frontiers in neuroscience · 2026Review
- Loss of MeCP2 leads to sleep deficits that are time-of-day dependent and worsen with sleep deprivation.Neurobiology of sleep and circadian rhythms · 2025Article
- Zebrafish mecp2 null-mutation increases anxiety and cortisol levels but no change in adult social preference and larval chemically-induced hyperlocomotion.BMC neuroscience · 2025Article
- Elucidating neuroepigenetic mechanisms to inform targeted therapeutics for brain disorders.iScience · 2025Review
- Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway.EMBO molecular medicine · 2024Article
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice.Disease models & mechanisms · 2024Article
- Sex mechanisms as nonbinary influences on cognitive diversity.Hormones and behavior · 2024Review
- Multidimensional Analysis of a Social Behavior Identifies Regression and Phenotypic Heterogeneity in a Female Mouse Model for Rett Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- HeterozygousHeliyon · 2024Article
- Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome.Brain : a journal of neurology · 2024Article
- Article
- Adenosinergic System and BDNF Signaling Changes as a Cross-Sectional Feature of RTT: Characterization ofInternational journal of molecular sciences · 2023Article
- A Comprehensive and Integrative Approach to MeCP2 Disease Transcriptomics.International journal of molecular sciences · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
There is currently no effective treatment for Rett syndrome (RTT), a severe X-linked progressive neurodevelopmental disorder caused by mutations in the transcriptional regulator MECP2. Because MECP2 is subjected to X-inactivation, most affected individuals are female heterozygotes who display cellular mosaicism for normal and mutant MECP2. Males who are hemizygous for mutant MECP2 are more severely affected than heterozygous females and rarely survive. Mecp2 loss-of-function is less severe in mice, however, and male hemizygous null mice not only survive until adulthood, they have been the most commonly studied model system. Although heterozygous female mice better recapitulate human RTT, they have not been as thoroughly characterized. This is likely because of the added experimental challenges that they present, including delayed and more variable phenotypic progression and cellular mosaicism due to X-inactivation. In this review, we compare phenotypes of Mecp2 heterozygous female mice and male hemizygous null mouse models. Further, we discuss the complexities that arise from the many cell-type and tissue-type specific roles of MeCP2, as well as the combination of cell-autonomous and non-cell-autonomous disruptions that result from Mecp2 loss-of-function. This is of particular importance in the context of the female heterozygous brain, composed of a mixture of MeCP2+ and MeCP2- cells, the ratio of which can alter RTT phenotypes in the case of skewed X-inactivation. The goal of this review is to provide a clearer understanding of the pathophysiological differences between the mouse models, which is an essential consideration in the design of future pre-clinical studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.