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Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration

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To characterize female aged Efemp1 R345W knock-in (Efemp1ki/ki) mice, a model for Doyne honeycomb retinal dystrophy/malattia leventinese by bulk RNA sequencing We performed differential expression and gene set enrichment analysis analysis using data obtained from RNA-seq of the neural retina and posterior eyecups (whole eye without lens and retina) from 3- to 17-month-old Efemp1+/+ and Efemp1ki/ki mice Gene expression profiling analysis of RNA-seq data of of the neural retina and posterior eyecups (whole eye without lens and retina) from 3- to 17-month-old Efemp1+/+ and Efemp1ki/ki mice

本研究针对作为多因氏蜂窝状视网膜营养不良/莱文廷塞病(Doyne honeycomb retinal dystrophy/malattia leventinese)模型的Efemp1 R345W纯合敲入(Efemp1ki/ki)雌性老龄小鼠,采用批量RNA测序(bulk RNA sequencing)技术开展表征分析。我们采集了3至17月龄的Efemp1野生型(Efemp1+/+)与Efemp1ki/ki小鼠的神经视网膜及后眼杯(即去除晶状体与视网膜的完整眼球组织)的RNA测序数据,基于此完成差异表达分析与基因集富集分析(gene set enrichment analysis),并针对上述样本的RNA测序数据开展基因表达谱分析。

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