Article
A hot spot for hotfoot mutations in the gene encoding the delta2 glutamate receptor.
The European journal of neuroscience - 1 Apr 2003
Wang Ying, Matsuda Shinji, Drews Valerie, Torashima Takashi, Meisler Miriam H, Yuzaki Michisuke
Abstract excerpt
The orphan glutamate receptor delta2 is selectively expressed in Purkinje cells and plays a crucial role in cerebellar functions. Recently, ataxia in the hotfoot mouse ho4J was demonstrated to be caused by a deletion in the delta2 receptor gene (Grid2) removing the N-terminal 170 amino acids of the delta2 receptor. To understand how delta2 receptors function, we characterized mutations in eight additional...
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