This strain carries a tandem head-to-tail duplication of a 260.8 kb region on the X Chromosome that includes Plp1, Tceal3, Tceal1, Morf4l2, BC065397 and Glra4. The duplication resembles duplications found in patients with Pelizaeus-Merzbacher disease (PMD).
PMD is a hyomylelinating leukodystrophy associated with mutations in PLP1 (proteolipid protein 1). Beginning at 6 months of age Plp1 dup mice develop progressive gait abnormalities characterized by decreased performance in stand index, cadence, diagonal support, three-paw support and base of support. Mice become slow moving and flat-footed. Hind limbs are more affected than forelimbs.
A progressive loss of myelin followed by axonal loss is observed in corpus callosum at 6 months of age. In the spinal cord, degenerating fibers, large vacuoles and astrogliosis are present in gray matter and to a lesser extent in white matter.

Plp1 dup mice carry a tandem head-to-tail duplication of a 260.8 kb region on the X Chromosome that includes Plp1. The duplication is associated with the hyomylelinating leukodystrophy, Pelizaeus-Merzbacher disease (PMD); carrier mice exhibit progressive gait abnormalities and a progressive loss of myelin.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.