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.
Spurney, C. F., Gordish-Dressman, H., Guerron, A. D., Sali, A., Pandey, G. S., Rawat, R., . . . Nagaraju, K. (2009). Preclinical drug trials in the mdx mouse: assessment of reliable and sensitive outcome measures. Muscle Nerve, 39(5), 591-602. doi:10.1002/mus.21211. Publication
Benny Klimek, M. E., Sali, A., Rayavarapu, S., Van der Meulen, J. H., & Nagaraju, K. (2016). Effect of the IL-1 Receptor Antagonist Kineret® on Disease Phenotype in mdx Mice. PLoS ONE, 11(5), e0155944. http://doi.org/10.1371/journal.pone.0155944. Publication
Vila, M. C., Klimek, M. B., Novak, J. S., Rayavarapu, S., Uaesoontrachoon, K., Boehler, J. F., … Nagaraju, K. (2015). Elusive sources of variability of dystrophin rescue by exon skipping. Skeletal Muscle, 5, 44. Publication
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