The Type 1 Inositol 1,4,5-Trisphosphate Receptor Gene Is Altered in the opisthotonos Mouse

The opisthotonos (opt) mutation arose spontaneously in a C57BL/Ks-db2J colony and is the only known, naturally occurring allele of opt. This mutant mouse was first identified based on its ataxic and convulsive phenotype. Genetic and molecular data presented here demonstrate that the type 1 inositol...

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Veröffentlicht in:	The Journal of neuroscience 1997-01, Vol.17 (2), p.635-645
Hauptverfasser:	Street, Valerie A, Bosma, Martha M, Demas, Vasiliki P, Regan, Melissa R, Lin, Doras D, Robinson, Linda C, Agnew, William S, Tempel, Bruce L
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Base Sequence Calcium - metabolism Calcium Channels - deficiency Calcium Channels - genetics Calcium Channels - physiology Cerebellar Ataxia - genetics Cerebellar Ataxia - pathology Cerebellar Ataxia - physiopathology Cerebellum - pathology DNA Mutational Analysis Epilepsy - genetics Epilepsy - pathology Epilepsy - physiopathology Exons - genetics Gene Expression Regulation Genes Genes, Recessive Genotype GTP-Binding Proteins - physiology Inositol 1,4,5-Trisphosphate Receptors Mice Mice, Neurologic Mutants - genetics Molecular Sequence Data Morphogenesis - genetics Nerve Tissue Proteins - deficiency Nerve Tissue Proteins - genetics Nerve Tissue Proteins - physiology Phosphatidylinositol Diacylglycerol-Lyase Purkinje Cells - drug effects Purkinje Cells - metabolism Purkinje Cells - pathology Quisqualic Acid - pharmacology Receptors, Cytoplasmic and Nuclear - deficiency Receptors, Cytoplasmic and Nuclear - genetics Receptors, Cytoplasmic and Nuclear - physiology Receptors, Metabotropic Glutamate - drug effects Receptors, Metabotropic Glutamate - physiology Second Messenger Systems - genetics Sequence Deletion Type C Phospholipases - physiology
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