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. Overall design: 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).