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Cited by 66Animal Genetics and ReproductionCRISPR and Genetic EngineeringZebrafish Biomedical Research Applications

Technical approaches for mouse models of human disease

Open access
Justice, Monica J., Siracusa, Linda D., Stewart, A. Francis·2011·Disease Models & Mechanisms
DOI 10.1242/dmm.000901PMC PMC3097452
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Abstract

The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain desired gene mutations by using the following processes: targeted mutations that eliminate function in the whole organism or in a specific tissue; forward genetic screens using chemicals or transposons; or the introduction of exogenous transgenes as DNAs, bacterial artificial chromosomes (BACs) or reporter constructs. The mouse is the only mammal that provides such a rich resource of genetic diversity coupled with the potential for extensive genome manipulation, and is therefore a powerful application for modeling human disease. This poster review outlines the major genome manipulations available in the mouse that are used to understand human disease: natural variation, reverse genetics, forward genetics, transgenics and transposons. Each of these applications will be essential for understanding the diversity that is being discovered within the human population.

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  • Replacing mutant with wild type microglia via bone marrow transfer ameliorated RTT symptoms in Mecp2 null mice.

    “Furthermore, microglia, which function as brain macrophages, recycle neuronal cholesterol during dendrite pruning39, and replacing mutant with wild type microglia via bone marrow transfer ameliorated RTT symptoms in Mecp2 null mice13.”

    From A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome (2013) · cites this paper as [13]

    The Reverse genetics and Transgenics sections describe ways to engineer mouse models, but do not address microglia replacement or symptom improvement in Mecp2-null mice. Searches for Mecp2, microglia, bone marrow transfer, and Rett syndrome found no passage supporting the attributed finding. (LLM, conf=0.75)

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Authors
Justice, M. J., Siracusa, L. D., & Stewart, A. F.
Affiliations
  • Baylor College of Medicine (US)
  • Thomas Jefferson University (US)
  • Technische Universität Dresden (DE)
Corresponding author
Justice, Monica J.
ORCID
Venue
Disease Models & Mechanisms
Publisher
The Company of Biologists
Published
2011-05-01
Volume
4
Issue
3
Pages
305-310
ISSN
  • 1754-8403 (ISSN-L)
  • 1754-8411
DOI
10.1242/dmm.000901
PMC
PMC3097452
OpenAlex
W2114123557
Cited by
66
References
1
Citations by year
2026: 3 · 2025: 3 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 4 · 2020: 4 · 2019: 8 · 2018: 5 · 2017: 4 · 2016: 10 · 2015: 3 · 2014: 3 · 2013: 4 · 2012: 4
FWCI
0.44
Type
journal article
Language
en
Open access
Licence
cc-by-nc-sa
Locations
  • Disease Models & Mechanisms (publishedVersion, cc-by-nc-sa)
  • PubMed Central (publishedVersion, cc-by-nc-sa)
  • PubMed (publishedVersion)
  • The Medicine Forum (submittedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Animal Genetics and Reproduction
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Zebrafish Biomedical Research Applications
Keywords
mouse models of human disease, inbred mouse strains, spontaneous mutation, targeted mutations, reverse genetics, forward genetics, transposable elements, transgenesis, bacterial artificial chromosome, reporter constructs, genome manipulation, genetic diversity
MeSH terms
Animals, Disease, Disease Models, Animal, DNA Transposable Elements, Genetics, Humans, Mice, Transgenic, Genetic Variation, Mice

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