Technology ID

Murine Model of Niemann-Pick Disease Type C

Lead Inventor
Pavan, William ("Bill") (National Human Genome Research Institute (NIH/NHGRI))
Loftus, Stacie (National Human Genome Research Institute (NIH/NHGRI))
Research Materials
Therapeutic Areas
Psychiatry/Mental Health
Infectious Disease
Lead IC
This technology includes a transgenic mouse model of Niemann-Pick Disease Type C (NPC), which is a rare neurodegenerative disorder, characterized by intracellular accumulation of cholesterol and gangliosides. The mouse strain, Tg(Npcl), expresses wild-type NPC1 gene under the control of the prion promoter. When combined with the NPC deficient mouse model, BALB/c npcnih/nih, also known as Npcl-/-, the transgene insertion allele rescues life expectancy of Npc1-/- mice. Npc1-/- mouse have reduced life expectancy and die around 8 weeks, making it a difficult model to be utilized. The Tg(Npcl) mouse strain we generated, when mated to the Npc1-/- mouse model rescues a portion of the disease effects related to neurologic degeneration and allows for a normal life span of Npcl-/- mice. The new mouse strain defined by both alleles (Tg (Npcl) ; BALB/ c npcnih/nih rescues NPC1 disease reduced viability and maintains the visceral defects that corresponds to the NPC visceral phenotype associated with cholesterol accumulation. The establishment of Tg(Npcl); BALB/c npcnih/nih creates an animal model that is useful to study both the visceral disease aspects of NPC and also the general biology of cholesterol accumulation and its effect on visceral organ systems.
Commercial Applications
Drug development for NPC and to study general biology related to cholesterol accumulation which has implications for more common human diseases pertaining to hypercholesterolemia and atherosclerosis.

Competitive Advantages
Animals live beyond 8 weeks and can be maintained at a reduced cost.
Licensing Contact:
Campbell, Eggerton