Transgenic Mice that Express Human Superoxide Dismutase 1 with the Following Mutations (1) a Double Mutation at Residue 46 and 48 with Histidine 46 Mutated to Arginine and Histidine 48 Mutated to Glut

Mutations in superoxide dismutase 1 cause familial forms of amyotrophic lateral sclerosis (ALS). To investigate potential mechanisms of disease pathogenesis, transgenic mice that express human superoxide dismutase 1 with the following mutations were generated: (1) a double mutation at residue 46 and 48 with histidine 46 mutated to arginine and histidine 48 mutated to glutamate; (2) a quadruple mutation where histidine 46 is mutated to arginine, histidine 48 mutated to glutamine and histidines 63 and 120 both mutated to glycine. Description (Set) Proposed Use (Set) This mouse model provides an important research tool for studying the pathogenesis of ALS.

Inventor(s): Borchelt, David

Type of Offer: Licensing

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