Mice with a Conditional LoxP-Flanked Glucosylceramide Synthase Allele Controlling Glycosphingolipid Synthesis

Glycosphingolipids are organizational building blocks of plasma membranes that participate in key cellular functions, such as signaling and cell-to-cell interactions. Glucosylceramide synthase - encoded by the Ugcg gene - controls the first committed step in the major pathway of glycosphingolipid synthesis. Global disruption of the Ugcg gene in mice is lethal during gastrulation. The inventors have established a Ugcg allele flanked by loxP sites (floxed). When cre recombinase was expressed in the nervous system under control of the nestin promoter, the floxed gene underwent recombination, resulting in a substantial reduction of Ugcg expression and of glycosphingolipid ganglio-series levels. The mice deficient in Ugcg expression in the nervous system show a striking loss of Purkinje cells and abnormal neurologic sphingo-lipid behavior.

The Research Tools available are mice with a floxed Ugcg allele that can be deleted in a conditional manner. These mice carrying floxed Ugcg alleles will be useful for delineating the functional roles of glycosphingolipid synthesis in the nervous system and in other physiologic systems.

Potential Commercial Applications: Competitive Advantages:
  • Study of the functional roles of glycosphingolipid synthesis in the nervous system and other physiologic systems.
  • The floxed Ugcg allele will facilitate analysis of the function of glycosphingolipids in development, physiology, and in diseases such as diabetes and cancer.

Development Stage:
Ready to Use


Richard Proia (NIDDK)  ➽ more inventions...

Intellectual Property:
Research Material -- patent protection is not being pursued for this technology

T Yamashita, ML Allende, DN Kalkofen, N Werth, K Sandhoff, RL Proia. Conditional LoxP-flanked glucosylceramide synthase allele controlling glycosphingolipid synthesis. Genesis 2005 Dec;43(4):175-180. PubMed abs

Collaboration Opportunity:

The NIDDK Genetics of Development and Disease Branch is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize the sphingolipid metabolism in physiology and disease. Please contact Dr. Proia at proia@nih.gov for more information.

Licensing Contact:
Mythreyi Shastri, Ph.D.
Email: shastrim@mail.nih.gov
Phone: 301-435-0613

OTT Reference No: E-320-2007-0
Updated: Jan 1, 2009