Information

A stop codon mutation in exon-23 of the dystrophin gene results in dystrophin deficiency. Mouse models with the same mutation are widely used as genetic and biochemical mouse models for DMD . The disease phenotype is mild. Skeletal muscle pathology develops around 3 weeks of age, with muscle weakness by 5-6 weeks. These mice are homozygous, and no genotyping is needed. C57BL/10ScSnJ mice are wild-type controls for this model. We have systematically phenotyped this model at multiple age groups.

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https://www.jax.org/strain/001801

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Spurney, C., Yu, Q., & Nagaraju, K. (2012). Speckle tracking analysis of the left ventricular anterior wall shows significantly decreased relative radial strain patterns in dystrophin deficient mice after 9 months of age. PLoS Currents, 3, RRN1273. Publication

Uaesoontrachoon, K., Quinn, J. L., Tatem, K. S., Van Der Meulen, J. H., Yu, Q., Phadke, A., … Nagaraju, K. (2014). Long-term treatment with naproxcinod significantly improves skeletal and cardiac disease phenotype in the mdx mouse model of dystrophy. Human Molecular Genetics, 23(12), 3239–3249. Publication