Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.

@article{Adlkofer1997HeterozygousPM,
  title={Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.},
  author={Katrin Adlkofer and Renate Frei and D H Neuberg and Jurgen Zielasek and Klaus Viktor Toyka and Ueli Suter},
  journal={The Journal of neuroscience : the official journal of the Society for Neuroscience},
  year={1997},
  volume={17 12},
  pages={4662-71}
}
Hereditary neuropathy with liability to pressure palsy (HNPP) is associated with a heterozygous 1.5 megabase deletion on chromosome 17 that includes the peripheral myelin protein (PMP) gene PMP22. We show that heterozygous PMP22 knock-out mice, which carry only one functional pmp22 allele and thus genetically mimic HNPP closely, display similar morphological and electrophysiological features as observed in HNPP nerves. As reported previously, focal hypermyelinating structures called tomacula… CONTINUE READING