This technology is a set of in vivo mouse models of amyotrophic lateral sclerosis (ALS) caused by mutations in the fused in sarcoma (FUS) locus that can be used to explore cellular and molecular mechanisms of ALS.
Mutations in the fused in sarcoma (FUS) gene are associated with rare and aggressive forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the functional consequences of these mutations are unknown. Although biophysical evidence supports a toxic gain-of-function mechanism for ALS-FUS, there is currently no mouse model of endogenous FUS mutation.
These mouse lines express the murine equivalent of a human FUS point mutation or a deletion of exon 14 in the endogenous FUS locus. Clinical observation shows that both models develop progressive, age-dependent degeneration in a vulnerable subpopulation of spinal motor neurons. Biochemical studies also support prior evidence that mutant FUS alters the protein’s solubility and subcellular localization.
This technology has been validated as a platform for preclinical drug testing.
IR CU22041
Licensing Contact: Jerry Kokoshka