Article
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.
Nature genetics - 1 Jun 1994
Ryan S G, Buckwalter M S, Lynch J W, Handford C A, Segura L, Shiang R, Wasmuth J J, Camper S A, Schofield P, O'Connell P
Abstract excerpt
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...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- DNA, Complementary
- Humans
- Mice
- Mice, Inbred A
- Mice, Neurologic Mutants
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Rats