Exon 45 is deleted in the mRNA as the result of a mutation in the 3’ splice junction in the dysferlin gene. This deletion removes part of the fifth C2 domain (C2E) of the dysferlin protein. Mild myopathic lesions can be seen histologically by around 4 weeks of age, and active myopathy by 6-8 months in the proximal muscle groups. In older mice (16 months) >50% of the muscle is replaced by fat. The mice also have other symptoms, including a high incidence of lymphoma around 10-14 months, increased susceptibility to autoimmune diseases, and viral infections. There are no wild type control mice for this mouse strain. We have systematically phenotyped this model at multiple age groups.
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