Disc1 is mutated in the 129S6/SvEv strain and modulates working memory in mice
Disc1 is mutated in the 129S6/SvEv strain and modulates working memory in mice
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DOI：
10.1073/pnas.0511189103
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发表时间：
2006-03-07
影响因子：
11.1
通讯作者：
Gogos, JA
中科院分区：
文献类型：
--
作者：
Koike, H;Arguello, PA;Gogos, JA
DISC 1基因是精神分裂症的主要易感基因。在这里，我们描述了一个缺失的mDisc 1特定的129 S6/SvEv株，在外显子7引入终止密码子，废除生产的全长蛋白质，并损害工作记忆的性能时，转移到C57 BL/6 J遗传背景。我们的研究结果提供了DISC 1变异如何有助于人类精神分裂症易感性以及129 S6/SvEv和C57 BL/6 J小鼠品系之间的行为差异的见解，并对小鼠精神疾病建模具有影响。
Disrupted-in-Schizophrenia (DISC1) is a leading candidate schizophrenia susceptibility gene. Here, we describe a deletion variant in mDisc1 specific to the 129S6/SvEv strain that introduces a termination codon at exon 7, abolishes production of the full-length protein, and impairs working memory performance when transferred to the C57BL/6J genetic background. Our findings provide insights into how DISC1 variation contributes to schizophrenia susceptibility in humans and the behavioral divergence between 129S6/SvEv and C57BL/6J mouse strains and have implications for modeling psychiatric diseases in mice.