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A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse

Nature Genetics volume 7, pages 131–135 (1994)Cite this article

Abstract

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 α1 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 Gira1 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.

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Authors and Affiliations

  1. Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas, 78284, USA

    Stephen G. Ryan & Lillian Segura

  2. Department of Cellular & Structural Biology, University of Texas Health Science Center, San Antonio, Texas, 78284, USA

    Stephen G. Ryan & Peter O'Connell

  3. Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, 48109, USA

    Marion S. Buckwalter & Sally A. Camper

  4. Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, N.S.W., 2010, Australia

    Joseph W. Lynch, Cheryl A. Handford & Peter Schofield

  5. Department of Biological Chemistry, University of California, Irvine, California, 92717, USA

    Rita Shiang & John J. Wasmuth

  6. Department of Pathology, University of Texas Health Science Center, San Antonio, Texas, 78284, USA

    Peter O'Connell

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  1. Stephen G. Ryan
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Ryan, S., Buckwalter, M., Lynch, J. et al. A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat Genet 7, 131–135 (1994). https://doi.org/10.1038/ng0694-131

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