Utrophin–dystrophin-deficient mice as a model for Duchenne muscular dystrophy
Open accessAbstract
The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease that is inevitably fatal in early adulthood. In contrast, dystrophin-deficient mdx mice appear physically normal despite their underlying muscle pathology. We describe mice deficient for both dystrophin and the dystrophin-related protein utrophin. These mice show many signs typical of DMD in humans: they show severe progressive muscular dystrophy that results in premature death, they have ultrastructural neuromuscular and myotendinous junction abnormalities, and they aberrantly coexpress myosin heavy chain isoforms within a fiber. The data suggest that utrophin and dystrophin have complementing roles in normal functional or developmental pathways in muscle. Detailed study of these mice should provide novel insights into the pathogenesis of DMD and provide an improved model for rapid evaluation of gene therapy strategies.
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Mice lacking both dystrophin and utrophin show a much more severe phenotype and reduced lifespan.
“a mouse model lacking both dystrophin and utrophin shows a much more severe phenotype, and a reduced lifespan”
From Small and large animal models in cardiac contraction research: advantages and disadvantages (2014) · cites this paper as Deconinck, et al., 1997
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- Authors
- Deconinck, A. E., Rafael, J. A., Skinner, J. A., Brown, S. C., Potter, A. C., Metzinger, L., Watt, D. J., Dickson, J. G., Tinsley, J. M., & Davies, K. E.
- Affiliations
- University of Oxford (GB)
- Royal Holloway University of London (GB)
- Corresponding author
- Davies, Kay E
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1997-08
- Volume
- 90
- Issue
- 4
- Pages
- 717-727
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2019563312
- Cited by
- 752
- References
- 47
- Citations by year
- 2026: 16 · 2025: 14 · 2024: 15 · 2023: 16 · 2022: 27 · 2021: 35 · 2020: 31 · 2019: 27 · 2018: 35 · 2017: 27 · 2016: 27 · 2015: 49 · 2014: 32 · 2013: 31 · 2012: 37
- FWCI
- 9.93
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Keywords
- Duchenne muscular dystrophy, utrophin, dystrophin, mdx mice, muscle membrane, myosin heavy chain isoforms, muscle ultrastructure
- MeSH terms
- Animals, Cytoskeletal Proteins, Disease Models, Animal, Female, Male, Membrane Proteins, Muscular Dystrophy, Animal, Neuromuscular Junction, Receptors, Cholinergic, Tendons, Dystrophin, Mice, Inbred mdx, Muscle, Skeletal, Myosin Heavy Chains, Utrophin, Mice
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