Burrows Emma L, Hannan Anthony J
Florey Institute of Neuroscience and Mental Health, Melbourne Brain Centre, University of Melbourne, Parkville, VIC, Australia.
Methods Mol Biol. 2013;1017:95-104. doi: 10.1007/978-1-62703-438-8_7.
Fragile X syndrome, the leading inherited cause of mental retardation and autism spectrum disorders worldwide, is caused by a tandem repeat expansion in the FMR1 (fragile X mental retardation 1) gene. It presents with a distinct behavioral phenotype which overlaps significantly with that of autism. Emerging evidence suggests that tandem repeat polymorphisms (TRPs) might also play a key role in modulating disease susceptibility for a range of common polygenic disorders, including the broader autism spectrum of disorders (ASD) and other forms of psychiatric illness such as schizophrenia, depression, and bipolar disorder [1]. In order to understand how TRPs and associated gene mutations mediate pathogenesis, various mouse models have been generated. A crucial step in such functional genomics is high-quality behavioral and cognitive phenotyping. This chapter presents a basic behavioral battery for standardized tests for assaying social phenotypes in mouse models of brain disorders, with a focus on aggression.
脆性X综合征是全球智力迟钝和自闭症谱系障碍的主要遗传性病因,由FMR1(脆性X智力迟钝1)基因中的串联重复序列扩增引起。它表现出一种独特的行为表型,与自闭症的行为表型有显著重叠。新出现的证据表明,串联重复多态性(TRP)可能在调节一系列常见多基因疾病的易感性方面也发挥关键作用,包括更广泛的自闭症谱系障碍(ASD)以及精神分裂症、抑郁症和双相情感障碍等其他形式的精神疾病[1]。为了了解TRP和相关基因突变如何介导发病机制,已经构建了各种小鼠模型。这种功能基因组学中的一个关键步骤是高质量的行为和认知表型分析。本章介绍了一套基本的行为测试组合,用于在脑疾病小鼠模型中进行标准化测试以测定社会行为表型,重点是攻击行为。