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Letter
Nature Genetics 25, 105–109 (1 May 2000) | doi:10.1038/75490
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy
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Abstract
Expansion of a CTG trinucleotide repeat in the 3|[prime]| UTR of the gene DMPK at the DM1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects. Targeted deletion of Dm15, the mouse orthologue of human DMPK, produced mice with a mild myopathy and cardiac conduction abnormalities, but without other features of myotonic dystrophy, such as myotonia and cataracts.
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