Transcriptomic analysis of Fig4 KO mouse brain

Fig4, as part of the phosphatidylinositol 3,5-bisphosphate regulatory complex, is involved in the biosynthesis and turnover of phosphatidylinositol 3,5-bisphosphosphate, a key lipid in endosome and lysosome function. Mutations in this protein in humans lead to neurodegeneration similar to ALS. Here, we investigated the effect of Fig4 knockout on the transcriptome of mice at P21 into the mechanism by which Fig4 causes neurodegeneration. Vac14 is a scaffolding protein that is part of the PI(3,5)P2 regulatory complex that leads to neurodegernation in humans when mutated. We also investigated the effect of Vac14 knockout in mice at P21. Additionally, we investigated the role of the microglial transcriptome.