Expression of a myelin basic protein gene in transgenic shiverer mice: correction of the dysmyelinating phenotype

Cell. 1987 Feb 27;48(4):703-12. doi: 10.1016/0092-8674(87)90248-0.

Abstract

Mice homozygous for the autosomal recessive mutation shiverer (shi) lack myelin basic protein (MBP) and exhibit a distinct behavioral pattern including tremors (shivering), convulsions, and early death. We have previously demonstrated that shiverer mice have a partial deletion in the gene encoding MBP. We now have introduced the wild-type MBP gene into the germ line of shiverer mice by microinjection into fertilized eggs. Transgenic shiverer mice homozygous for the introduced gene have MBP mRNA and protein levels that are approximately 25% of normal, and produce compacted myelin with major dense lines. Correct temporal and spatial expression of the MBP gene is achieved with a genomic MBP cosmid clone containing 4 kb of 5' flanking sequence and 1 kb of 3' flanking sequence. Moreover, the four different forms of MBP produced by alternative patterns of RNA splicing are present. These homozygous transgenic shiverer mice no longer shiver nor die prematurely.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Base Sequence
  • Chromosome Deletion
  • Gene Expression Regulation*
  • Homozygote
  • Mice
  • Mice, Quaking / genetics*
  • Microinjections
  • Microscopy, Electron
  • Myelin Basic Protein / genetics*
  • Optic Nerve / ultrastructure
  • Pedigree
  • Phenotype

Substances

  • Myelin Basic Protein