Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

Nat Genet. 1995 Nov;11(3):281-6. doi: 10.1038/ng1195-281.


Mutations in the human gene for the myelin recognition molecule protein zero (P0) give rise to severe and progressive forms of dominantly inherited peripheral neuropathies. We have previously reported that mice homozygous for a null mutation in P0 have severely hypomyelinated nerves ten weeks after birth. Here we show hypomyelination already exists at day four with subsequent demyelination and impaired nerve conduction. Furthermore, heterozygous mutants show normal myelination, but develop progressive demyelination after four months of age. Thus, the pathology of homo- and heterozygous P0 mutants resembles that of the severely affected Déjérine-Sottas and the more mildly affected Charcot-Marie-Tooth type 1B patients, respectively.

Publication types

  • Comparative Study

MeSH terms

  • Animals
  • Charcot-Marie-Tooth Disease / genetics
  • Disease Models, Animal
  • Hereditary Sensory and Motor Neuropathy / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Mice
  • Mutation
  • Myelin P0 Protein / deficiency*
  • Myelin P0 Protein / genetics*
  • Myelin Sheath / pathology*
  • Nerve Fibers, Myelinated / pathology
  • Neural Conduction
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / metabolism
  • Peripheral Nervous System Diseases / pathology
  • Tenascin / biosynthesis


  • Myelin P0 Protein
  • Tenascin