| First Author | Kingsmore SF | Year | 1994 |
| Journal | Nat Genet | Volume | 7 |
| Issue | 2 | Pages | 136-41 |
| PubMed ID | 7920630 | Mgi Jnum | J:18530 |
| Mgi Id | MGI:66826 | Doi | 10.1038/ng0694-136 |
| Citation | Kingsmore SF, et al. (1994) Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet 7(2):136-41 |
| abstractText | 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. |
