| First Author | Ryan SG | Year | 1994 |
| Journal | Nat Genet | Volume | 7 |
| Issue | 2 | Pages | 131-5 |
| PubMed ID | 7920629 | Mgi Jnum | J:18524 |
| Mgi Id | MGI:66825 | Doi | 10.1038/ng0694-131 |
| Citation | Ryan SG, et al. (1994) A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat Genet 7(2):131-5 |
| abstractText | Hereditary hyperekplexia, an autosomal dominant neurologic disorder characterized by an exaggerated startle reflex and neonatal hypertonia, can be caused by mutations in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). Spasmodic (spd), a recessive neurologic mouse mutant, resembles hyperekplexia phenotypically, and the two disease loci map to homologous chromosomal regions. Here we describe a Glra1 missense mutation in spd that results in reduced agonist sensitivity in glycine receptors expressed in vitro. We conclude that spd is a murine homologue of hyperekplexia and that mutations in GLRA1/Glra1 can produce syndromes with different inheritance patterns. |
