This inbred strain contains a naturally occurring dysferlin mutation and was originally developed from a cross between a Cold Spring Harbor albino mouse and a Bagg albino mouse. The absence of the dysferlin protein results from an ETn retrotransposon (5-6kb) insertion in intron 4 of the dysferlin gene. Histological evidence of dystrophy is not seen until 4-5 months of age, and muscle weakness progresses slowly. The abdominal muscles are most severely affected, followed by proximal muscles and then distal muscles. We have systematically phenotyped this model at multiple age groups.
Uaesoontrachoon, K., Cha, H.-J., Ampong, B., Sali, A., Vandermeulen, J., Wei, B., … Nagaraju, K. (2013). The effects of MyD88 deficiency on disease phenotype in dysferlin-deficient A/J mice: role of endogenous TLR ligands. The Journal of Pathology, 231(2), 199–209.
Dillingham, B. C., Klimek, M. E. B., Gernapudi, R., Rayavarapu, S., Gallardo, E., Van der Meulen, J. H., … Nagaraju, K. (2015). Inhibition of Inflammation with Celastrol Fails to Improve Muscle Function in Dysferlin-deficient A/J Mice. Journal of the Neurological Sciences, 356(0), 157–162. Publication