Research Materials & Patents

1. Asah2 KO Mouse

   Also known as: Asah2tm1Rlp, neutral ceramidase KO mouse Asah2 KO mice lack expression of neutral ceramidase, which is highly expressed in the intestinal epithelia. Asah2 KO mice are viable and grossly normal, lack expression of neutral ceramidase and…
   Summary
   PI: Proia, Richard

2. Floxed Ormdl3 Mouse

   Also known as: B6.Cg-Ormdl3tm1.1Rlp/J ORMDL proteins (ORMDL1, 2 and 3) are a family of small transmembrane endoplasmic reticulum proteins involved in feedback inhibition of the de novo synthesis pathway of sphingolipids by inhibiting serine…
   Summary
   PI: Proia, Richard

3. Floxed S1pr1 Mouse

   Also known as: S1pr1tm2.1Rlp, floxed S1P1 mouse S1pr1 is a member of the sphingosine-1-phosphate G-protein coupled receptor family. S1pr1 is essential for vascular maturation during embryonic development and is involved in in the regulation of innate…
   Summary
   PI: Proia, Richard

4. Floxed Sptlc1 Mouse

   Also known as: Sptlc1tm1.1Rlp The Sptlc1tm1.1Rlp allele has loxp sites flanking exons 4 and 5. When the Cre gene is expressed under the control of the Adipoq promotor, the Sptlc1 expression and sphingolipid levels is reduced in adipocytes. The mice…
   Summary
   PI: Proia, Richard

5. Floxed Ugcg Mouse

   Also known as: Ugcgtm4Rlp, floxed glucosylceramide synthase mouse, floxed GlcT mouse Ugcgtm4Rlp allele has loxp sites in intron 6 and in the 3’ untranslated region. Cre expression would be predicted to delete exons 6,7,8 and 9. Cre recombinase…
   Summary
   PI: Proia, Richard

6. GalNAcT KO Mouse

   Also known as: B4galnt1tm1Rlp, GM2/GD2 synthase KO mouse B4galnt1 KO mice lack complex gangliosides and instead express high levels of simple gangliosides GM3 and GD3. The KO mice display decreased central myelination, axonal degeneration in both the…
   Summary
   PI: Proia, Richard

7. GbaL444P Knock-in Mouse

   Also known as: Gbatm1Rlp, Type 3 Gaucher disease mouse Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene encoding the lysosomal enzyme, glucocerebrosidase encoded by the Gba gene. The L444P mutation in GBA…
   Summary
   PI: Proia, Richard

8. GD3 Synthase KO Mouse

   Also known as: St8sia1tm1Rlp, GD3S KO mouse GD3 synthase (GD3S), encoded by St8sia1, is a sialyltransferase expressed in the nervous system, that is responsible for the synthesis of b-series gangliosides. St8sia1 KO mice, even with an absence of…
   Summary
   PI: Proia, Richard

9. GM2 Activator Deficiency Disease Mouse

   Also known as: Gm2atm1Rlp , Gm2a KO mouse, AB Variant of GM2 gangliosidosis mouse Gm2a KO mice demonstrate neuronal storage of GM2 ganglioside in restricted regions of the brain (piriform, entorhinal cortex, amygdala, and hypothalmic nuclei…
   Summary
   PI: Proia, Richard

10. GM3 Synthase KO Mouse

    Also known as: St3gal5tm1Rlp, St3gal5 KO mouse The St3gal5 KO mice are viable and appear grossly normal but show a heightened sensitivity to insulin. A basis for the increased insulin sensitivity in the mutant mice is enhanced insulin receptor…
    Summary
    PI: Proia, Richard

11. Inducible SPT Mouse

    Also known as: Floxed stop fusion-serine palmitoyl transferase mouse, Stop-fSPT mouse, B6J.FVB-Gt(ROSA)26Sortm3(CAG-SPTLC2/SPTSSA/SPTLC1,-EGFP)1Rlp/Mmucd The mice carry a transgene that is a single-chain version of serine palmitoyltransferase with…
    Summary
    PI: Proia, Richard

12. OrmdI1 KO Mouse

    Also known as: C57BL/6-Ormdl1em1Rlp/J ORMDL proteins (ORMDL1, 2 and 3) are a family of small transmembrane endoplasmic reticulum proteins involved in feedback inhibition of the de novo synthesis pathway of sphingolipids by inhibiting serine…
    Summary
    PI: Proia, Richard

13. Ormdl2 KO Mouse

    Also known as: C57BL/6-Ormdl2em1Rlp/J ORMDL proteins (ORMDL1, 2 and 3) are a family of small transmembrane endoplasmic reticulum proteins involved in feedback inhibition of the de novo synthesis pathway of sphingolipids by inhibiting serine…
    Summary
    PI: Proia, Richard

14. S1P1 GFP Signaling Mouse

    Also known as: S1pr1tm3.1(tTA,-Arrb2)Rlp, S1P1 Tango mouse These S1pr1 knockin mice have a bicistronic transcription unit inserted at the C-terminus of exon 2 of the sphingosine-1-phosphate receptor 1 (S1pr1) gene. Specifically, the allele contains…
    Summary
    PI: Proia, Richard

15. S1P1 Luciferase Signaling Mouse

    S1P1 luciferase signaling mice enable the bioluminescent detection of sphingosine-1-phosphate receptor 1 (S1P1) activation in real time. A synthetic S1P1 signaling pathway, designed to report the interaction between S1P1and β-arrestin2 via the…
    Summary
    PI: Proia, Richard

16. S1pr1 KO Mouse

    Also known as: S1pr1tm1Rlp, sphingosine-1-phosphate receptor 1 KO mouse, S1P1 KO mouse, Edg1 KO mouse S1pr1 is a member of the sphingosine-1-phosphate G-protein coupled receptor family. S1pr1 is essential for vascular maturation during embryonic…
    Summary
    PI: Proia, Richard

17. S1pr2 KO Mouse

    Also known as: S1pr2tm1Rlp, sphingosine-1-phosphate receptor 2 KO mouse, S1P2 KO mouse, Edg5 KO mouse S1pr2 is a member of the sphingosine-1-phosphate G-protein coupled receptor family. S1pr2 KO mice exhibit deafness, seizures and are prone to B-cell…
    Summary
    PI: Proia, Richard

18. S1pr3 KO Mouse

    Also known as: S1pr3tm1Rlp, sphingosine-1-phosphate receptor 3 KO mouse, S1P3 KO mouse, Edg3 KO mouse S1pr3 is a member of the sphingosine-1-phosphate G-protein coupled receptor family. S1pr3 KO mice are grossly normal. Double KO S1pr2/S1pr3 mice…
    Summary
    PI: Proia, Richard

19. Sandhoff Disease Mouse

    Also known as: Hexbtm1Rlp, Hexb KO mouse Hexb KO mice develop motor defects beginning at about 3 months of age. The defects progressively worsen and homozygous mice die by 4.5 months of age. Mice display gangliosidosis; mice abnormally accumulate GM2…
    Summary
    PI: Proia, Richard

20. Sgpp2 KO Mouse

    Also known as: Sgpp2tm1Rlp, sphingosine-1-phosphate (S1P) phosphatase 2 KO mouse Intracellular metabolism of sphingosine-1-phosphate (S1P) is controlled, in part, by two homologous S1P phosphatases (SPPases), 1 and 2, which are encoded by the Sgpp1…
    Summary
    PI: Proia, Richard

21. Sphk1 KO Mouse

    Also known as: Sphk1tm1Rlp, sphingosine kinase 1 KO mouse Sphingosine kinase 1 and 2, expressed by the Sphk1 and Sphk2 genes, respectively, are enzymes that catalyzes the synthesis of sphingosine-1-phosphate (S1P), a lipid signaling molecule, from…
    Summary
    PI: Proia, Richard

22. Sphk2 KO Mouse

    Also known as: Sphk2tm1Rlp, sphingosine kinase 2 KO mouse Sphingosine kinase 1 and 2, expressed by the Sphk1 and Sphk2 genes, respectively, are enzymes that catalyzes the synthesis of sphingosine-1-phosphate (S1P), a lipid signaling molecule, from…
    Summary
    PI: Proia, Richard

23. Tay-Sachs Disease Mouse

    Also known as: Hexatm1Rlp, Hexa KO mouse These Hexa knock-out mice exhibit accumulation of GM2 ganglioside in the central nervous system. They are suitable for use in applications related to the study of Tay-Sachs disease in humans. Learn more on…
    Summary
    PI: Proia, Richard