The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
X chromosome-linked muscular dystrophy (mdx) in the mouse
Open accessAbstract
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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In the citing paper
“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
In the citing paper
“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
Citations
Cites
Gene Action in the X-chromosome of the Mouse (Mus musculus L.)
LYON, M. F. (1961) · Nature · doi:10.1038/190372a0 · Cited by 3,978
Murray, J., Davies, K. E., Harper, P. S., Meredith, L., Mueller, C. R., & Williamson, R. (1982) · Nature · doi:10.1038/300069a0 · Cited by 330
ACID HYDROLASES AS MODELS OF GENETIC CONTROL
Paigen, K. (1979) · Annual Review of Genetics · doi:10.1146/annurev.ge.13.120179.002221 · Cited by 233
Kingston, H. M., Thomas, N. S. T., Pearson, P. L., Sarfarazi, M., & Harper, P. S. (1983) · Journal of Medical Genetics · doi:10.1136/jmg.20.4.255 · Cited by 90
Chimaera mouse study shows absence of disease in genetically dystrophic muscle
Peterson, A. C. (1974) · Nature · doi:10.1038/248561a0 · Cited by 59
Serum pyruvate kinase in muscle disease and carrier states
Alberts, M. C., & Samaha, F. J. (1974) · Neurology · doi:10.1212/wnl.24.5.462 · Cited by 54
A histological study of muscle from the bar harbor strain of dystrophic mice
Pearce, G. W., & Walton, J. N. (1963) · The Journal of Pathology and Bacteriology · doi:10.1002/path.1700860105 · Cited by 51
Polymorphism of kidney pyruvate kinase in the mouse is determined by a gene, Pk-3, on chromosome 9
Peters, J., Nash, H., Eicher, E. M., & Bulfield, G. (1981) · Biochemical Genetics · doi:10.1007/bf00484007 · Cited by 46
Self-citationPyruvate kinase isoenzymes in progressive muscular dystrophy and in acute myocardial infarction
Harano, Y., Adair, R., Vignos, P. J., Miller, M., & Kowal, J. (1973) · Metabolism · doi:10.1016/0026-0495(73)90041-3 · Cited by 41
Creatine Phosphokinase Isoenzymes in Muscle in human Myopathies
Kar, N. C., & Pearson, C. M. (1965) · American Journal of Clinical Pathology · doi:10.1093/ajcp/43.3.207 · Cited by 40
Cited by
Sorted by citations
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987) · Cell · doi:10.1016/0092-8674(87)90579-4 · Cited by 4,693
The Molecular Basis of Muscular Dystrophy in the mdx Mouse: a Point Mutation
Sicinski, P., Geng, Y., Ryder-Cook, A. S., Barnard, E. A., Darlison, M. G., & Barnard, P. J. (1989) · Science · doi:10.1126/science.2662404 · Cited by 1,276
Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle
Blake, D. J., Weir, A., Newey, S. E., & Davies, K. E. (2002) · Physiological Reviews · doi:10.1152/physrev.00028.2001 · Cited by 1,270
Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy
Sullivan, T. L., Escalante‐Alcalde, D., Bhatt, H., Anver, M. R., BHAT, N. K., Nagashima, K., Stewart, C. L., & Burke, B. E. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.147.5.913 · Cited by 1,197
RNA therapeutics: beyond RNA interference and antisense oligonucleotides
Kole, R., Krainer, A. R., & Altman, S. (2012) · Nature Reviews Drug Discovery · doi:10.1038/nrd3625 · Cited by 1,152
Metadata
- 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 (clinical) › 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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