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使用CD1作为遗传背景有利于MeCP2相关研究。

MeCP2 Related Studies Benefit from the Use of CD1 as Genetic Background.

作者信息

Cobolli Gigli Clementina, Scaramuzza Linda, Gandaglia Anna, Bellini Elisa, Gabaglio Marina, Parolaro Daniela, Kilstrup-Nielsen Charlotte, Landsberger Nicoletta, Bedogni Francesco

机构信息

San Raffaele Rett Research Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

Institute of Surgical Pathology, University Hospital Zurich, Zurich, Switzerland.

出版信息

PLoS One. 2016 Apr 20;11(4):e0153473. doi: 10.1371/journal.pone.0153473. eCollection 2016.

Abstract

MECP2 mutations cause a number of neurological disorders of which Rett syndrome (RTT) represents the most thoroughly analysed condition. Many Mecp2 mouse models have been generated through the years; their validity is demonstrated by the presence of a broad spectrum of phenotypes largely mimicking those manifested by RTT patients. These mouse models, between which the C57BL/6 Mecp2tm1.1Bird strain probably represents the most used, enabled to disclose much of the roles of Mecp2. However, small litters with little viability and poor maternal care hamper the maintenance of the colony, thus limiting research on such animals. For this reason, past studies often used Mecp2 mouse models on mixed genetic backgrounds, thus opening questions on whether modifier genes could be responsible for at least part of the described effects. To verify this possibility, and facilitate the maintenance of the Mecp2 colony, we transferred the Mecp2tm1.1Bird allele on the stronger CD1 background. The CD1 strain is easier to maintain and largely recapitulates the phenotypes already described in Mecp2-null mice. We believe that this mouse model will foster the research on RTT.

摘要

MECP2突变会引发多种神经疾病,其中瑞特综合征(RTT)是研究最为深入的病症。多年来已构建了许多Mecp2小鼠模型;其有效性体现在具有广泛的表型,很大程度上模拟了RTT患者所表现出的症状。这些小鼠模型中,C57BL/6 Mecp2tm1.1Bird品系可能是使用最多的,它们有助于揭示Mecp2的许多作用。然而,产仔数少、生存能力差以及母性照顾不足阻碍了种群的维持,从而限制了对此类动物的研究。因此,过去的研究常常在混合遗传背景下使用Mecp2小鼠模型,这就引发了关于修饰基因是否至少对部分所述效应负责的疑问。为了验证这种可能性,并便于维持Mecp2种群,我们将Mecp2tm1.1Bird等位基因转移到了遗传背景更强的CD1品系上。CD1品系更容易维持,并且在很大程度上重现了Mecp2基因敲除小鼠中已描述的表型。我们相信这个小鼠模型将推动对RTT的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/78c7/4838291/86ce1aa86b87/pone.0153473.g002.jpg

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