A Missense Mutation in the Gene Encoding the Alpha(1) Subunit of the Inhibitory Glycine Receptor in the Spasmodic Mouse

Ryan, SG, Buckwalter, MS, Lynch, JW, Handford, CA, Segura, L, Shiang, R, Wasmuth, JJ, Camper, SA, Schofield, P and Oconnell, P (1994) A Missense Mutation in the Gene Encoding the Alpha(1) Subunit of the Inhibitory Glycine Receptor in the Spasmodic Mouse. Nature Genetics, 7 2: 131-135. doi:10.1038/ng0694-131


Author Ryan, SG
Buckwalter, MS
Lynch, JW
Handford, CA
Segura, L
Shiang, R
Wasmuth, JJ
Camper, SA
Schofield, P
Oconnell, P
Title A Missense Mutation in the Gene Encoding the Alpha(1) Subunit of the Inhibitory Glycine Receptor in the Spasmodic Mouse
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 1994-06-01
Year available 1994
Sub-type Article (original research)
DOI 10.1038/ng0694-131
Open Access Status Not yet assessed
Volume 7
Issue 2
Start page 131
End page 135
Total pages 5
Place of publication NEW YORK
Publisher NATURE PUBLISHING CO
Language eng
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 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.
Keyword Mutant Mouse
Functional Expression
Startle Response
Chloride Channel
Hyperekplexia
Hyperexplexia
Localization
Assignment
Disorder
Disease
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: ResearcherID Downloads - Archived
 
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