MeCP2 related studies benefit from the use of CD1 as genetic background
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MECP2 mutations cause a number of neurological disorders of which Rett syndrome (RTT) represents the most thoroughly analysed condition. Many Mecp2 mouse models have been generated through the years; their validity is demonstrated by the presence of a broad spectrum of phenotypes largely mimicking those manifested by RTT patients. These mouse models, between which the C57BL/6 Mecp2tm1.1Bird strain probably represents the most used, enabled to disclose much of the roles of Mecp2. However, small litters with little viability and poor maternal care hamper the maintenance of the colony, thus limiting research on such animals. For this reason, past studies often used Mecp2 mouse models on mixed genetic backgrounds, thus opening questions on whether modifier genes could be responsible for at least part of the described effects. To verify this possibility, and facilitate the maintenance of the Mecp2 colony, we transferred the Mecp2tm1.1Bird allele on the stronger CD1 background. The CD1 strain is easier to maintain and largely recapitulates the phenotypes already described in Mecp2-null mice. We believe that this mouse model will foster the research on RTT.
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Heterozygous female mice on all genetic backgrounds, as well as female rats, become significantly overweight as they age.
“Interestingly, heterozygous female mice on all genetic backgrounds, as well as female rats, become significantly overweight as they age [115,117,125], although humans with RTT have a wide range in body mass index [15].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [125]
The Results and Discussion (Fig. 4; page not provided) report that CD1 heterozygous female mice became overweight relative to wild-type controls beginning at three months of age. The paper does not establish this for female mice on all genetic backgrounds or for female rats. (LLM, conf=0.88)
Experimental — accuracy not yet measuredBody weight in Mecp2 null mice differs depending on genetic background.
“Curiously, body weight in Mecp2 null mice differs depending on genetic background; male Mecp2tm1.1Bird/Y mice on a C57BL/6J background are substantially underweight by four weeks of age compared with wild-type littermates.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [125]
CD1.Mecp2tm1.1Bird mice have an increase in serum triglycerides with no corresponding change in serum cholesterol.
“Additionally, CD1.Mecp2tm1.1Bird mice have an increase in serum triglycerides with no corresponding change in serum cholesterol [125].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [125]
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Landsberger, N., Rocco, G. D., de Donato, A., Indrigo, M. T., Varotto, V., Geusa, M., Taverna, S., Cifola, I., Pinatel, E., & Frasca, A. (2026) · Research Square · doi:10.21203/rs.3.rs-10618030/v1
Self-citation
- Authors
- Cobolli Gigli, C., Scaramuzza, L., Gandaglia, A., Bellini, E., Gabaglio, M., Parolaro, D., Kilstrup-Nielsen, C., Landsberger, N., & Bedogni, F.
- Affiliations
- IRCCS Ospedale San Raffaele (IT)
- University Hospital Zurich (CH)
- University of Insubria (IT)
- University of Milan (IT)
- Corresponding author
- Landsberger, Nicoletta
- Bedogni, Francesco
- Venue
- PLOS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2016-04-20
- Volume
- 11
- Issue
- 4
- Pages
- e0153473
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC4838291
- OpenAlex
- W2341349973
- Cited by
- 37
- References
- 44
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 5 · 2023: 2 · 2022: 2 · 2021: 5 · 2020: 2 · 2019: 4 · 2018: 5 · 2017: 2 · 2016: 2
- FWCI
- 3.50
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS ONE (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- IrInSubria (University of Insubria) (submittedVersion)
- Funders
- Fondation Jerome Lejeune
- proRETT Ricerca
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- MeCP2, Rett syndrome, mouse model, genetic background effects, genetic modifiers, colony maintenance, C57BL/6 mice, Mecp2-null mice
- MeSH terms
- Genetic Background, Alleles, Animals, Behavior, Animal, Female, Male, Neurons, Phenotype, Species Specificity, Gene Deletion, Models, Animal, Mice, Methyl-CpG-Binding Protein 2
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