Full-length transcriptome sequencing of the mice skin with Mitf p.R324del mutation
we embarked on a comprehensive full-length transcriptome analysis of the skin tissues from Mitf p.R324del mutation mice and wild-type controls. Our study aimed to identify differentially expressed genes (DEGs) and AS events associated with the abnormal pigmentation observed in these mice. By integrating functional enrichment analyses and AS profiling, we sought to uncover the regulatory networks disrupted by the Mitf mutation, providing insights into the pathogenesis of WS and the role of MITF in melanocyte biology.