Expression of amino-terminally truncated PrP in the mouse leading to ataxia and specific cerebellar lesions

Cell. 1998 Apr 17;93(2):203-14. doi: 10.1016/s0092-8674(00)81572-x.

Abstract

The physiological role of prion protein (PrP) remains unknown. Mice devoid of PrP develop normally but are resistant to scrapie; introduction of a PrP transgene restores susceptibility to the disease. To identify the regions of PrP necessary for this activity, we prepared PrP knockout mice expressing PrPs with amino-proximal deletions. Surprisingly, PrP lacking residues 32-121 or 32-134, but not with shorter deletions, caused severe ataxia and neuronal death limited to the granular layer of the cerebellum as early as 1-3 months after birth. The defect was completely abolished by introducing one copy of a wild-type PrP gene. We speculate that these truncated PrPs may be nonfunctional and compete with some other molecule with a PrP-like function for a common ligand.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Ataxia / genetics
  • Ataxia / pathology*
  • Brain Chemistry
  • Cell Death
  • Cerebellum / chemistry
  • Cerebellum / pathology*
  • Genes / physiology
  • Mice
  • Mice, Transgenic
  • Neurons / pathology
  • Phenotype
  • Prions / analysis
  • Prions / genetics*
  • RNA, Messenger / analysis
  • Scrapie / genetics
  • Scrapie / pathology*
  • Sequence Deletion*
  • Time Factors

Substances

  • Prions
  • RNA, Messenger