Gaucher's disease

Gaucher's disease is a recessive lysosomal storage disorder caused by mutations in acid beta-glucosidase (GBA). Loss of GBA results in accumulation of the glycolipid glucosylceramide and other lipids throughout the body, but particularly in the spleen, liver and bone marrow. There are three main forms of Gaucher's disease with different symptomatology (all three result from GBA mutations). Type I, which lacks the central nervous system involvement seen in Types II and III, is the most common. Symptoms include blood clotting issues, anemia, osteoporosis, bone pain and an enlarged liver and/or spleen.

General information links for Gaucher's disease:

Causative genes for Gaucher disease
Human geneHuman proteinFly GeneComment
GBA1Glucosidase, beta, acidGba1a
GBA1Glucosidase, beta, acidGba1b

Stocks for studying Gaucher disease
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
GBA1 (human)PBac{UAS-hGBA1.W}VK0003795277Expresses human GBA1 under the control of UAS.
GBA1 (human)M{UAS-hGBA.WT}ZH-51C91642Expresses human GBA under the control of UAS.
GBA1 (human)M{UAS-hGBA.N370S}ZH-51C91644Expresses human GBA carrying amino acid change N370S (a familial Parkinson disease mutation), under the control of UAS.
GBA1 (human)M{UAS-hGBA.L444P}ZH-51C91643Expresses human GBA carrying amino acid change L444P (a familial Parkinson disease mutation), under the control of UAS.
Gba1aMi{ET1}Gba1a[MB02296]23435This Mi{ET1} insertion into Gba1a coding sequences results in a hypomorphic allele. The protein is predicted to lack to the last 33 amino acids.
Gba1aGba1a[Delta1]97394CRISPR/Cas9 was used to generate a 10 bp deletion (3R:23700791..23700800) in Gba1a.
Gba1aDf(3R)GBA1[DeltaTT]95249An imprecise excision of Mi{ET1}Gba1a[MB02296] resulted in loss of the last 33 amino acids of Gga1a, all of Qsox4, and first 433 amino acids of Gba1b.
Gba1aP{TRiP.HMS01984}attP239064Expresses dsRNA for RNAi of Gba1a (FBgn0051148) under UAS control in the VALIUM20 vector.
Gba1aP{TRiP.HMS01848}attP4038379Expresses dsRNA for RNAi of Gba1a (FBgn0051148) under UAS control in the VALIUM20 vector.
Gba1aP{TKO.GS00693}attP4077191Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of Gba1a (FBgn0051148).
Gba1bMi{ET1}Gba1b[MB03039]23602This Mi{ET1} insertion into Gba1b coding sequences results in a hypomorphic allele. The protein is predicted to lack to the last 133 amino acids.
Gba1bTI{TI}Gba1b[KO]95275Ends out homologous recombination was used to introduce a stop codon and frame-shift mutation 12 bp downstream of the ATG start codon. An EcoRV restriction site has also been introduced.
Gba1bGba1b[DeltaY49]97396CRISPR/Cas9 was used to delete a single amino acid, Y49, (a 3 bp deletion 3R:23705048::23705051). Gives strong loss-of-function lysotracker phenotype in the brain.
Gba1bGba1b[Delta1]97394CRISPR/Cas9 was used to generate a 10 bp deletion in Gba1b leading to a frameshift.
Gba1bGba1b[Delta1]97395CRISPR/Cas9 was used to generate a 10 bp deletion in Gba1b leading to a frameshift.
Gba1bDf(3R)GBA1[DeltaTT]95249An imprecise excision of Mi{ET1}Gba1a[MB02296] resulted in loss of the last 33 amino acids of Gga1a, all of Qsox4, and first 433 amino acids of Gba1b.
Gba1bP{TRiP.HMS01893}attP4038977Expresses dsRNA for RNAi of Gba1b (FBgn0051414) under UAS control in the VALIUM20 vector.
Gba1bP{TRiP.HMS01885}attP238970Expresses dsRNA for RNAi of Gba1b (FBgn0051414) under UAS control in the VALIUM20 vector.
Gba1bTI{CRIMIC.TG4.0}Gba1b[CR00541-TG4.0]78943CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under the control of Gba1b regulatory sequences.
Gba1bP{TKO.GS00895}attP4077100Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of Gba1b (FBgn0051414).
Gba1bP{UAS-Gba1b.D}attP4095249Expresses Gba1b under the control of UAS.
Gba1bP{GMR57C10-Gba1b.V5}attP1497402Expresses Gba1b tagged with V5 at the C-terminus in neurons under the control of nSyb.
Gba1bP{20xUAS-Gba1b.V}attP1697400Expresses Gba1b under the control of UAS.
Gba1bP{20xUAS-Gba1b.mCh}attP297398Expresses a Gba1b mini-gene tagged with mCherry under the control of UAS. The mini-gene includes the signal sequence and exons 1 thru 9 and excludes introns and UTRs.
Gba1bP{20xUAS-Gba1b.mCh}attP1697397Expresses a Gba1b mini-gene tagged with mCherry under the control of UAS. The mini-gene includes the signal sequence and exons 1 thru 9 and excludes introns and UTRs.
Gba1bP{20xUAS-Gba1b.LAMP-V5}attP1697399Expresses a Gba1b tagged with V5 and fused to the Lamp1 transmembrane domain under the control of UAS. The construct is designed to tether Gba1b to cell membranes and target it to lysosomes.
Gba1bP{SAM.dCas9.GS06160}attP40604807Expresses sgRNA for expression of Gba1b (FBgn0051414) ubiquitously. Also expresses flySAM components, dCas9::VP64 and MCP::p65(h)::HSF1, under the control of UAS.
Gba1bP{GMR57C10-Gba1b.E404K.V5}attP1497403Expresses a catalytically-inactive Gba1b in neurons under the control of nSyb. Gba1b carries amino acid change E404K (the equivalent of E340K in humans) and is tagged at the C-terminus with V5.
Gba1bP{20xUAS-Gba1b.E404K}attP1697401Expresses a catalytically-inactive Gba1b in neurons under the control of UAS. The E404K amino acid change is the equivalent of E340K in humans.