A mutation in the Srrm4 gene causes pre-mRNA splicing defects and deafness in Bronx waltzer mice

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 cerebellar samples. The processed data represent probe-set intensities that have been normalized to gene expression levels. 8 total samples were analyzed in this series: cerebellums from 4 heterozygous (bv/+) and 4 homozygous (bv/bv) mice at P15.自发突变布朗克斯摇摆（bv）小鼠品系以耳聋与平衡障碍为特征。本研究将bv突变位点定位于Srrm4基因，该基因编码可变前体mRNA剪接调控因子。我们发现Srrm4在平衡与听觉器官（即前庭斑与耳蜗）中表达，同时在包括小脑在内的中枢神经系统内也有表达。为鉴定bv/bv小鼠中潜在的剪接缺陷，我们使用小鼠外显子连接微阵列（mouse exon junction microarrays，MJAY），分析了bv/bv小鼠与同窝对照（bv/+）小鼠的前庭斑及小脑组织的RNA样本。本数据集包含来自小脑样本的探针集水平数据，经处理的数据为已针对基因表达水平完成标准化的探针集信号强度。本系列共分析8个样本：取自4只P15龄杂合子（bv/+）小鼠与4只P15龄纯合子（bv/bv）小鼠的小脑组织。