| Experiment Id | GSE214491 | Name | Toxic Gain-of-Function Involving Uromodulin Aggregates Drives Autosomal Dominant Tubulointerstitial Kidney Disease |
| Experiment Type | RNA-Seq | Study Type | WT vs. Mutant |
| Source | GEO | Curation Date | 2023-12-13 |
| description | Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD mutations is characterized by strong interfamilial variability. We generated two mutant Umod knock-in mouse models, harbouring two mutations associated with drastic differences in kidney survival in ADTKD patients. We performed bulk RNA-sequencing of kidney extracts from Umod KI mice at an early (1 month) and advanced (4 months) stage of disease. RNA-sequencing of mouse kidneys from Umod wild type and mutant mice (p.C171Y, p.R186S) at 1 and 4 months of age. |
