Article
A gain-of-function mutation in the GABA receptor produces synaptic and behavioral abnormalities in the mouse.
Genes, brain, and behavior - 1 Feb 2005
Homanics G E, Elsen F P, Ying S-W, Jenkins A, Ferguson C, Sloat B, Yuditskaya S, Goldstein P A, Kralic J E, Morrow A L, Harrison N L
Abstract excerpt
In mammalian species, inhibition in the brain is mediated predominantly by the activation of GABAA receptors. We report here changes in inhibitory synaptic function and behavior in a mouse line harboring a gain-of-function mutation at Serine 270 (S270) in the GABAA receptor alpha1 subunit. In recombinant alpha1beta2gamma2 receptors, replacement of S270 by Histidine (H) results in an increase in sensitivity to...
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