A/J inbred strain is introgressed into the BL6 genetic background to generate Bla/J mice. Histological changes (centronucleated fibers and inflammation) in certain muscle (e.g., psoas, quadriceps etc) are evident around two months of age and functional deficits between 4-6 months of age. These mice are homozygous, and no genotyping is needed. C57BL/6 mice are the wild-type controls for this model. We have systematically phenotyped this model at multiple age groups.
Lostal, W., Bartoli, M., Bourg, N., Roudaut, C., Bentaib, A., Miyake, K., . . . Richard, I. (2010). Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Hum Mol Genet, 19(10), 1897-1907. doi:10.1093/hmg/ddq065. Publication
Biondi, O., Villemeur, M., Marchand, A., Chretien, F., Bourg, N., Gherardi, R. K., . . . Authier, F. J. (2013). Dual effects of exercise in dysferlinopathy. Am J Pathol, 182(6), 2298-2309. Publication