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Disease models

Mouse model for neurological features of myotonic dystrophy type 1 (DM1)

A mouse model for DM1 could be useful for studying neurological features of the disease. Mice lacking muscleblind-like 1 (Mbnl1), the homolog of a human gene whose activity is impaired in DM1, showed defective RNA splicing and neurological deficits but not DM1-associated impaired muscle function. Next steps could include testing the effect of candidate DM1 therapeutics on neurological function in Mbnl1 knockout mice.

SciBX 5(39); doi:10.1038/scibx.2012.1041
Published online Oct. 4, 2012

Patent and licensing status undisclosed

Charizanis, K. et al. Neuron; published online Aug. 9, 2012;
Contact: Maurice S. Swanson, University of Florida, Gainesville, Fla.