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

Nat Genet. 1994 Jun;7(2):136-41. doi: 10.1038/ng0694-136.


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.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brain / metabolism
  • Chromosome Mapping
  • DNA, Complementary / genetics
  • Disease Models, Animal
  • Gene Expression
  • Introns
  • Mice
  • Mice, Neurologic Mutants
  • Molecular Sequence Data
  • Mutation*
  • Myoclonus / congenital
  • Myoclonus / genetics
  • Polymerase Chain Reaction
  • Receptors, Glycine / genetics*
  • Receptors, Glycine / metabolism
  • Retroelements*


  • DNA, Complementary
  • Receptors, Glycine
  • Retroelements

Associated data

  • GENBANK/L32593
  • GENBANK/L32594
  • GENBANK/U09399