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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.
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
URL: http://dx.doi.org/10.1097/00001756-200103050-00039
DOI: 10.1097/00001756-200103050-00039
PubMed id: 11234777
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