Proceedings of the National Academy of Sciences · 1984 · 1.8K citations · 14 references
Life SciencesGeneticsMolecular GeneticsBiochemical GeneticsCytogeneticsMedical GeneticsGenetic DisordersGenetic SyndromesMolecular CytogeneticsMuscle DisordersMuscle PathologyMuscular DystrophyClinical SymptomsGene Order AnalysisGene Order DeterminationMuscular Dystrophy GeneticsPyruvate Kinase DeficiencySerum Creatine Kinase AssessmentX-linked Linkage Analysis
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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Gene Action in the X-chromosome of the Mouse (Mus musculus L.)
Mary F. Lyon · Nature · 1961 · 4K citations
Chimaera mouse study shows absence of disease in genetically dystrophic muscle
Alan C. Peterson · Nature · 1974 · 61 citations