The Jackson Laboratory, Bar Harbor, ME 04609, USA.
Epilepsy Curr. 2005 Sep-Oct;5(5):161-5. doi: 10.1111/j.1535-7511.2005.00051.x.
The goals of this short review are to familiarize readers with the stargazer mouse and to outline the major functional defects associated with this mutant. The roles of the stargazin protein in calcium channel function and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-receptor trafficking are discussed; focus is placed on studies regarding the thalamus, whence absence seizures potentially originate, and the cerebellum, which is associated with the ataxic phenotype. Finally, two additional alleles of stargazer, waggler and stargazer 3Jackson (3J), illustrate the value of an allelic series for understanding stargazin function.
本文旨在使读者熟悉 stargazer 小鼠,并概述与该突变体相关的主要功能缺陷。本文讨论了 stargazin 蛋白在钙通道功能和α-氨基-3-羟基-5-甲基-4-异恶唑丙酸(AMPA)受体运输中的作用;重点放在研究丘脑上,失神发作可能由此起源,以及与共济失调表型相关的小脑。最后,stargazer 的另外两个等位基因 waggler 和 stargazer 3Jackson(3J)说明了等位基因系列在理解 stargazin 功能方面的价值。