An animal model for Pierpont syndrome; a mouse bearing the Tbl1xr1Y446C/Y446C mutation.

Unravelling molecular defects resulting from the missense mutation in TBL1XR1 using targeted mutant mice bearing the Tbl1xr1 Y446C/Y446C mutation. These mice used as an animal model of Pierpont syndrome have disturbed hearing and subtle changes in fat metabolism. RNA seq of white adipose tissue has been performed to establish the transcriptome. mRNA profiles for white adipose tissue (WAT) of wild type and Tbl1xr1Y446C/Y446C mice (6 mice for each genotype, 3 male and 3 female mice per genotype).通过携带Tbl1xr1 Y446C/Y446C突变的定点诱变小鼠，解析TBL1XR1基因错义突变所引发的分子缺陷。此类小鼠作为皮蓬特综合征（Pierpont syndrome）的动物模型，表现出听觉功能受损与脂肪代谢细微异常。本研究已完成白色脂肪组织的RNA测序（RNA-seq）以构建转录组，数据集包含野生型（wild type）与Tbl1xr1 Y446C/Y446C小鼠的白色脂肪组织（WAT）mRNA表达谱，每种基因型各6只小鼠，其中雌雄各3只。