C03998: Transgenic Mouse Model with Parkinsons Disease-Linked -Synuclein GeneNovelty:
Multiple transgenic mouse lines with wild-type and mutated human -synuclein (-syn) gene related to familial Parkinsons disease (PD).
Value Proposition:
Mutations in the -syn gene cause PD in a number of pedigrees with familial PD. To better understand the pathogenic relationship between alterations in the -syn gene and PD-associated neurodegeneration, this invention has established multiple transgenic mouse lines expressing wild-type and mutated human -syn gene. Other advantages include:
• Investigate the function of -syn and its molecular partners in vivo
• System to test potential PD therapies
Technical Details:
Johns Hopkins researchers have introduced wild-type or mutated (A30P, A53T, or both) -syn genes into mice using transgenic technology. cDNAs encoding human -syn was generated from human brain by PCR. The familial PD-linked missense mutations A30P and A53T were introduced during the PCR. The resulting human cDNAs were then cloned into a linearized mouse prion protein promoter (MoPrp) vectors. The transgenes were then introduced into the germ line of mouse by pronuclear injection of one-cell mouse embryos. Gene expression was confirmed using anti-Hu -syn antibodies and northern blots.
Looking for Partners:
To license the technology as an animal model for familial Parkinsons disease research.
Stage of Development:
Mouse model established
Data Availability:
Ready for commercial use
Publications/Associated Cases:
Proc Natl Acad Sci U S A. 2002 Jun 25;99(13):8968-73
