Primary Identifier | MGI:1861691 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 56839 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable signaling receptor binding activity. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane. Located in cytoplasm and extracellular space. Is active in glutamatergic synapse and synaptic cleft. Is expressed in several structures, including brain; diaphragm; sensory organ; skeletal musculature; and spinal cord. Used to study familial temporal lobe epilepsy 1. Human ortholog(s) of this gene implicated in familial temporal lobe epilepsy 1. Orthologous to human LGI1 (leucine rich glioma inactivated 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, seizures, and death by the third week of life. Mice heterozygous for this allele exhibit increased suseptibility to pentylenetetrazole-induced seizures. [provided by MGI curators] |