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Disease models

Conditional fukutin (Fktn) knockout mice as a model for secondary dystroglycanopathies

Conditional Fktn knockout mice could be useful models for secondary dystroglycanopathies, a family of muscular dystrophies caused by mutations in multiple glycosyltransferase genes. In the mice, induced knockout of the glycosyltransferase gene Fktn led to loss of functionally glycosylated dystroglycan 1 (Dag1) within 18 days and development of dystrophic histopathology. In the mice, knocking out Fktn earlier in development led to a more severe disease phenotype compared with knocking out Fktn later in development. Next steps could include using the animals to test therapies for secondary dystroglycanopathies.

SciBX 5(36); doi:10.1038/scibx.2012.965
Published online Sept. 13, 2012

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Beedle, A.M. et al. J. Clin. Invest.; published online Aug. 27, 2012;
Contact: Kevin P. Campbell, The University of Iowa, Iowa City, Iowa