X chromosome-linked muscular dystrophy (mdx) in the mouse
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An X chromosome-linked mouse mutant (gene symbol, mdx) has been found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular dystrophy. The mutants show mild clinical symptoms and are viable and fertile. Linkage analysis with four X chromosome loci indicates that mdx maps in the Hq Bpa region of the mouse X chromosome. This gives a gene order of mdx-Tfm-Pgk-1-Ags, the same as for the equivalent genes on the human X chromosome.
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The mdx mouse model has mild cardiomyopathy, mild limb-skeletal muscle dysfunction, and normal life span, unlike human DMD.
“The mdx (dystrophin deficient) mouse model has a rather mild cardiomyopathy, mild limb-skeletal muscle dysfunction, and a normal life span, in contrast to human counterparts”
From Small and large animal models in cardiac contraction research: advantages and disadvantages (2014) · cites this paper as Bulfield, et al., 1984
The mdx mouse, the most widely used DMD model, has only a mild dystrophic phenotype even though it lacks functional dystrophin due to a point mutation.
“The most widely used animal model for DMD, the mdx mouse, exhibits only a mild dystrophic phenotype, although like DMD patients, it lacks functional dystrophin due to a point mutation in the dystrophin gene (Bulfield et al., 1984; Hoffman et al., 1987; Ryder-Cook et al., 1988).”
From Short Telomeres and Stem Cell Exhaustion Model Duchenne Muscular Dystrophy in mdx/mTR Mice (2010) · cites this paper as Bulfield et al., 1984
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- Authors
- Bulfield, G., Siller, W. G., Wight, P. A., & Moore, K. J.
- ORCID
- Wight, P A
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 1984-02
- Volume
- 81
- Issue
- 4
- Pages
- 1189-1192
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC344791
- OpenAlex
- W2070936696
- Cited by
- 1,765
- References
- 17
- Citations by year
- 2026: 24 · 2025: 46 · 2024: 47 · 2023: 56 · 2022: 54 · 2021: 60 · 2020: 65 · 2019: 38 · 2018: 68 · 2017: 60 · 2016: 54 · 2015: 78 · 2014: 79 · 2013: 58 · 2012: 65
- FWCI
- 3.64
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- X-linked muscular dystrophy, Duchenne muscular dystrophy, muscle creatine kinase, pyruvate kinase, X chromosome mapping, gene order
- MeSH terms
- Animals, Crosses, Genetic, Female, Genetic Linkage, Male, Mice, Inbred C57BL, Mice, Mutant Strains, Muscles, Muscular Dystrophy, Animal, Mutation, Pyruvate Kinase, X Chromosome, Mice
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