Licensing status

Publication and contact information

Disease models

Genetic duplication mouse model for a hypomyelinating disorder

Mice with an engineered genomic duplication at the proteolipid protein 1 (Plp1) locus could be useful for studying the hypomyelinating disorder Pelizaeus−Merzbacher disease (PMD). The mice showed decreases in speed, movement fluidity and gait abnormalities compared with wild-type mice. In these mice, levels of Plp1 and other myelin proteins were decreased compared with that of wild-type controls. The mice recapitulated markers of PMD in humans, such as progressive loss of myelin followed by axonal loss. Next steps include using the model to evaluate therapeutic candidates.

SciBX 6(31); doi:10.1038/scibx.2013.837
Published online Aug. 15, 2013

Unpatented; model to be submitted to Mutant Mouse Regional Resource Centers for distribution

Clark, K. et al. J. Neurosci.; published online July 17, 2013;
Contact: Grace Hobson, Alfred I. duPont Hospital for Children, Wilmington, Del.