MJAY analysis of vestibular macula RNA obtained from Bronx waltzer and control mice.. Mus musculus

The spontaneous mutant Bronx waltzer (bv) mouse line is characterized by deafness and balance defect. We located the bv mutation to the Srrm4 gene which encodes a regulator of alternative pre-mRNA splicing. We found that Srrm4 is expressed in balance and hearing organs (i.e. in the vestibular maculas and the cochlea). Srrm4 is also expressed in the central nervous system including the cerebellum. To identify potential splicing defects in bv/bv mice, we analyzed RNA samples from the vestibular maculas and cerebellums of bv/bv mice and control (bv/+) littermates, using mouse exon junction microarrays (MJAY). In this dataset, we include probe-set level data obtained from vestibular macula samples. The processed data represent probe-set intensities that have been normalized to gene expression levels (Inorm). Inorm was calculated using batch-corrected data as well as data that were not corrected for a batch effect. Overall design: 7 total samples were analyzed: vestibular maculas from 4 heterozygous (bv/+) and 3 homozygous (bv/bv) mouse embryos at E16.5.

自发性突变体布朗克斯卷毛（Bronx waltzer, bv）小鼠品系以耳聋与平衡功能障碍为特征。我们将bv突变位点定位至Srrm4基因，该基因编码可变前体mRNA（pre-mRNA）剪接调控因子。研究发现，Srrm4在平衡与听觉器官（即前庭黄斑与耳蜗）中表达，同时也在包括小脑在内的中枢神经系统内表达。为鉴定bv/bv小鼠体内潜在的剪接缺陷，我们采用小鼠外显子连接微阵列（exon junction microarrays, MJAY），分析了bv/bv小鼠及其杂合对照（bv/+）同窝仔的前庭黄斑与小脑RNA样本。本数据集包含来自前庭黄斑样本的探针集水平数据。经处理的数据为已标准化至基因表达水平的探针集强度值（Inorm），Inorm的计算同时使用了批次校正数据与未校正批次效应的数据集。实验整体设计如下：共分析7个样本，分别为4只E16.5阶段杂合（bv/+）小鼠胚胎与3只同阶段纯合（bv/bv）小鼠胚胎的前庭黄斑组织。