Cited by 1,765Muscle Physiology and DisordersNeurogenetic and Muscular Disorders ResearchGenomics and Rare Diseases

X chromosome-linked muscular dystrophy (mdx) in the mouse

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Bulfield, G, Siller, W G, Wight, P A, Moore, K J·1984·Proceedings of the National Academy of Sciences

Abstract

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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Crossref · 10.1073/pnas.81.4.1189

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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”
  • 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).”

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Authors
Bulfield, G., Siller, W. G., Wight, P. A., & Moore, K. J.
Venue
Proceedings of the National Academy of Sciences
Published
1984-02
Volume
81
Issue
4
Pages
1189-1192
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
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
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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