Stock Center logo
Niemann-Pick disease
Niemann-Pick disease is a metabolic disorder associated with the abnormal accumulation of lipids in organs such as the spleen, liver, lungs, and brain. Symptoms can include loss of motor coordination, spasticity, brain damage, and enlarged organs (dependent on the type). Types A and B are caused by mutations in the sphingomyelinase/SMPD1 gene, while type C is caused by mutations in the NPC1 and NPC2 genes. Fly stocks in the Bloomington collection that can be used to study Niemann-Pick disease are listed here.

General Information links for Niemann-Pick disease:
OMIM links for Niemann-Pick types are included in the table below
NIH's Genetics Home Reference - includes links for GHR pages on SMPD1, NPC1, and NPC2
Niemann-Pick types (from OMIM)
type Human gene Human protein Fly gene
types A and B SMPD1 sphingomyelinase CG3376
type C1 NPC1 NPC1 Niemann-Pick type C-1a (Npc1a), Npc1b is closely related
type C2 NPC2 NPC2 Niemann-Pick type C-2a (Npc2a); flies have 8 Npc2-related genes (a-h); models may require mutations in both Npc2a and Npc2b
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
      Human sphingomyelinase       Fly CG3376
CG3376 P{TRiP.HMS03021}attP2 36760 Expresses dsRNA for RNAi of CG3376 (FBgn0034997) under the control of UAS.
      Human NPC1       Fly Npc1a and Npc1b
Npc1a Npc1a[57A] 52006 2.1 kb deletion removing the first non-coding exon, the first intron and the first 25 bases of the second exon (which includes the first 7 bases of the open reading frame).
Npc1a P{EPgy2}Npc1a[EY00751] 19982 Npc1a weak hypomorph (EPgy2 insertion just upstream of transcription start)
Npc1a Npc1a[2] 50765 An imprecise excision of P{SUPor-P}KG05670 has deleted part of the NPC1a gene, resulting in a protein lacking the 45 N-terminal amino acid residues.
Npc1a Npc1a[1] 41762 An imprecise excision of P{SUPor-P}KG05670 has deleted part of the NPC1a gene, resulting in a protein lacking the 182 N-terminal amino acid residues.
Npc1a Mi{ET1}Npc1a[MB09749] 29886 This Mi{ET1} insertion is uncharacterized but is in the coding region and is an unverified lethal (suggesting it may disrupt function), 8/9/2010.
Npc1a P{TRiP.HMS01646}attP40 37504 Expresses dsRNA for RNAi of Npc1a (FBgn0024320) under the control of UAS.
Npc1a P{UAS-NPC1.YFP}3 41763 Expresses YFP-tagged Npc1a protein under UAS control.
Npc1b Npc1b[R9-28] 5739 Npc1b mutant, amino acid 289 is changed to a stop codon
Npc1b P{TRiP.HMS01757}attP40 38296 Expresses dsRNA for RNAi of Npc1b (FBgn0261675) under the control of UAS.
Npc1b PBac{HpaI-GFP.A}Npc1b[YD0005] 50871 protein trap expressing GFP-tagged Npc1b protein under Npc1B control.
      Human NPC2       Fly Npc2a and Npc2b
Npc2a Npc2a[376] 41760 An imprecise excision of P{SUPor-P}KG05307 has deleted the entire Npc2a coding region.
Npc2a P{TRiP.HMS01681}attP40 38237 Expresses dsRNA for RNAi of Npc2a (FBgn0031381) under the control of UAS.
Npc2a P{TRiP.GLC01417}attP2 53243 Expresses dsRNA for RNAi of Npc2a (FBgn0031381) under UAS control.
Npc2a P{UAS-Npc2a.H}2 50764 Expresses Npc2a under UAS control.
Npc2b Npc2b[19] 41761 An imprecise excision of P{SUPor-P}KG00996 has deleted the entire Npc2b coding region.
Npc2b P{TRiP.HMS02607}attP40 42914 Expresses dsRNA for RNAi of Npc2b (FBgn0038198) under UAS control.
Npc2b P{TRiP.HMS01682}attP40 38238 Expresses dsRNA for RNAi of Npc2b (FBgn0038198) under the control of UAS.
Npc2b P{UAS-Npc2b.H}2 42216 Expresses Npc2b protein under UAS control.