Article
The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element.
Neuron - 1 Oct 1994
Mülhardt C, Fischer M, Gass P, Simon-Chazottes D, Guénet J L, Kuhse J, Betz H, Becker C M
Abstract excerpt
Mice homozygous for the spastic mutation (spa) suffer from a complex motor disorder resulting from reduced CNS levels of the adult glycine receptor isoform GlyRA, which is composed of ligand-binding alpha 1 and structural beta polypeptides. The beta subunit-encoding gene (Glyrb) was mapped near t...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Cloning, Molecular
- DNA Transposable Elements
- DNA, Complementary
- Introns
- Mice
- Mice, Inbred BALB C
- Mice, Inbred C57BL
- Mice, Mutant Strains
- Molecular Sequence Data
- Muscle Spasticity
- Mutation
- RNA Precursors
- RNA Splicing
- RNA, Messenger