Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

The SJL mouse strain has been widely used as an animal model for experiment al autoimmune encephalitis (EAE), inflammatory muscle disease and lymphomas and has also been used as a background strain for the generation of animal models for a variety of diseases including motor neurone disease, multiple sclerosis and atherosclerosis. Recently the SJL mouse was shown to have my opathy due to dysferlin deficiency, so that it can now be considered a natu ral animal model for limb-girdle muscular dystrophy type 2B (LGMD2B) acid M iyoshi myopathy (MM). We have cloned the mouse dysferlin cDNA and analysis of the sequence shows that the mouse dysferlin gene is characterized by six C2 domain sequences and a C-terminal anchoring domain. with the human and the mouse dysferlin genes sharing >90% sequence homology overall. Genomic a nalysis of the SJL mutation confirms that the 171 bp RNA deletion has arise n by exon skipping resulting from a splice site mutation. The identificatio n of this mutation has implications for the various groups using this widel y available mouse stock. NeuroReport 12:625-629 (C) 2001 Lippincott William s & Wilkins.