Low level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic mice
| Autor: | Jochen Kuhse, Heinrich Betz, Bettina Hartenstein, Claudia Kling, Johannes Schenkel, B Besenbeck, Hans Weiher, Cord-Michael Becker |
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| Rok vydání: | 1996 |
| Předmět: |
Genetically modified mouse
Transgene Mutant Molecular Sequence Data Mice Transgenic Gene mutation Biology medicine.disease_cause General Biochemistry Genetics and Molecular Biology Mice Receptors Glycine medicine Animals RNA Messenger Molecular Biology Glycine receptor Interleukin 12 receptor beta 1 subunit In Situ Hybridization Brain Chemistry Mutation Membranes General Immunology and Microbiology Base Sequence General Neuroscience Brain Glycine Agents Neuromuscular Diseases Strychnine Phenotype Molecular biology Pedigree Disease Models Animal Spinal Cord Research Article |
| Zdroj: | The EMBO journal. 15(6) |
| ISSN: | 0261-4189 |
| Popis: | Mutations in inhibitory glycine receptor (GlyR) subunit genes are associated with neuromotor diseases in man and mouse. To use the potential of the mouse mutants as animal models of human disease, we altered GlyR levels in mutant mice and studied their phenotype. A transgene coding for the beta subunit of the rat GlyR was introduced into the genetic background of the spa mutation, which is characterized by low endogenous expression levels of the beta subunit and a dramatic neuromotor phenotype. The resulting transgenic mice expressed the beta subunit mRNA at intermediate levels, and their phenotype was rescued. This provides formal proof for the casual relationship between GlyR beta gene mutation and motor disease, and indicates that a low level of beta gene expression (25% of normal) is sufficient for proper functioning of glycinergic synapses. |
| Databáze: | OpenAIRE |
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