Transcriptomic profiling of kidney tissues from Col4a5-G814fs and Col4a5-G5X XLAS mouse models
This project provides RNA-seq data from the kidney tissues of two different truncating Col4a5 mouse models: the novel G814fs (frameshift) and the G5X (nonsense) models. Although both are classified as severe truncating variants, they exhibit distinct disease progression rates and survival outcomes. Our goal was to characterize the transcriptomic landscape of these models to understand the molecular drivers of clinical heterogeneity in X-linked Alport syndrome. The data highlights the differential regulation of inflammatory and metabolic genes, supporting the development of precision medicine approaches for patients with specific COL4A5 mutations.