Alpha 2 Collagen VIII (Col8a2) L450W Knock-in Mouse Model of Fuchs Endothelial Corneal Dystrophy
JHU REF: C13003
Invention novelty: This tangible material is an Alpha 2 collagen VIII (Col8a2) L450W knock-in mouse model of Fuchs endothelial corneal dystrophy (FECD)
Value Proposition
Fuchs endothelial corneal dystrophy (FECD) is a progressive, hereditary disease of the cornea and affects approximately 5% of the population in the US. Endothelial transplantation is the definitive treatment for visually significant FECD and there are no early or nonsurgical therapy exists to delay or prevent disease progression.
The use of in vivo mouse model for early on-set FECD should provide information regarding early cellular pathogenesis that is impractical to obtain in human patients and may be valuable for the development and testing of potential nonsurgical treatments for the disease.
Technical Details
Johns Hopkins researchers have developed genetically modified Alpha 2 collagen VIII (Col8a2) L450W knock-in mouse model of Fuchs endothelial corneal dystrophy. The mouse contained a leucine to tryptophan substitution at the 450 position in the Col8a2 protein due to a point mutation in the endogenous mouse col8a2which was introduce via site specific recombination knock-in approach. This L450W mutation in humans Col8a2 gene leads to early onset FECD which is also seen in the mouse model with the mutation.
Looking for Partners: To license this material for research purposes.
Stage of Development: Tangible Material
Data Availability: Animal data
Patent Status: None – Tangible Material
Publication(s)/Associated Cases: PMC3626522
Categories: Research Tools, Tangible Property, Mouse strain
