| Experiment Id | GSE245520 | Name | FUS-NLS mutation causes neurodevelopmental and systemic metabolic alterations |
| Experiment Type | RNA-Seq | Study Type | WT vs. Mutant |
| Source | GEO | Curation Date | 2025-01-03 |
| description | Mutations in the ubiquitously expressed DNA/RNA binding protein FUS cause aggressive juvenile forms of amyotrophic lateral sclerosis (ALS). While most FUS mutation studies have focused on motor neuron degeneration, little is known about wider systemic or developmental effects. We studied pleiotropic phenotypes in a physiological knock-in mouse model carrying the pathogenic FUSDelta14 mutation in homozygosity. RNA sequencing of multiple organs aimed to identify pathways altered by the mutant protein in the systemic transcriptome, including metabolic tissues given the link between ALS-FTD and altered metabolism. To investigate pleiotropic phenotypes in a physiological knock-in mouse model carrying the pathogenic FUSDelta14 mutation in homozygosity 6 tissues (frontal cortex, spinal cord, tibialis anterior, liver, iWAT and BAT) from wild type and Fus delta14/delta14 male mice at 9.5 weeks of age (n=4) |
