Investigation of loss of Cathepsin B in Niemann Pick disease, type C1
Description
Experiments investigating the effect of the loss of Cathepsin B (Ctsb-/-) in Niemann Pick type C1 deficient mice. Summary: Double mutant mice with the loss of Cathepsin B (Ctsb) and Niemann Pick type C1 (Npc1) were generated and analyzed with respect weight, beam walk, disease severity score and survival. The results were compared to control mice as indicated. Results: Double mutant mice (Ctsb-/-/Npc1-/-) exhibited a reduced weight gain pattern, a more severe balance and coordination assessment, a more severe disease burden and a reduced survival compared to control mutant mice (Ctsb+/-/Npc1-/-). Conclusions: Lack of Cathepsin B in the NPC1 mutant mice increases the severity of the NPC1 disease.
Files
Steps to reproduce
Would require mouse facilities with approved Animal Care and Use Committee protocols to cross Ctsb+/- and Npc1+/- to generate the double mutants. The metrics observed are standard observational data. For the disease severity scoring protocol, see Yerger et al, 2022 (PMID: 35452076).
Institutions
- National Institutes of Health
- National Institute of Child Health and Human Development