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

Lookup NU author(s): Dr Elizabeth Vafiadaki, Dr Alexandra Reis, Ruth Harrison, Dr Louise VB Anderson, Emerita Professor Katherine Bushby, Dr Rumaisa Bashir


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The SJL mouse strain has been widely used as an animal model for experimental 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 myopathy due to dysferlin deficiency, so that it can now be considered a natural animal model for limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi 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 analysis of the SJL mutation confirms that the 171 bp RNA deletion has arisen by exon skipping resulting from a splice site mutation. The identification of this mutation has implications for the various groups using this widely available mouse stock. © 2001 Lippincott Williams & Wilkins.

Publication metadata

Author(s): Bashir R; Reis A; Anderson LVB; Harrison R; Bushby K; Vafiadaki E; Keers S; Raffelsberger T; Ivanova S; Hoger H; Bittner RE

Publication type: Article

Publication status: Published

Journal: NeuroReport

Year: 2001

Volume: 12

Issue: 3

Pages: 625-629

ISSN (print): 0959-4965

ISSN (electronic): 1473-558X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1097/00001756-200103050-00039

PubMed id: 11234777


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