Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.


Journal Article

Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encoding the beta-subunit of the glycine receptor (Glrb) underlie spa: Glrb maps to the same region of mouse chromosome 3 as spa, and Glrb mRNA is markedly reduced throughout brains of spa mice, most likely as a result of an insertional mutation of a 7.1 kilobase LINE-1 element within intron 6 of Glrb. These results provide evidence that Glrb is necessary for postsynaptic expression of glycine receptor complexes, and suggest Glrb as a candidate gene for inherited myoclonus in other species.

Full Text

Duke Authors

Cited Authors

  • Kingsmore, SF; Giros, B; Suh, D; Bieniarz, M; Caron, MG; Seldin, MF

Published Date

  • June 1, 1994

Published In

Volume / Issue

  • 7 / 2

Start / End Page

  • 136 - 141

PubMed ID

  • 7920630

Pubmed Central ID

  • 7920630

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng0694-136


  • eng

Conference Location

  • United States