Grin2d (glutamate receptor, ionotropic, NMDA2D (epsilon 4))

基因基本信息

Grin2d 基因表型（MGI）

Homozygotes for a targeted null mutation exhibit reduced spontaneous activity and an elevated auditory brainstem response threshold. Heterozygosity for a gain-of-function mutation (p.V664I) results in epileptic seizures, sometimes fatal, decreased weight, impaired movement and coordination, and reduced lifespan.

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