Mucopolysaccharidoses

Mucopolysaccharidoses are a group of metabolic disorders that result from defects in the ability to break down mucopolysaccharides resulting in the buildup of sugars in tissues. Symptoms vary. Generally, patients appear normal at birth but exhibit progressive symptoms starting around one or two years of age including neurological defects, coarse facial features, skeletal abnormalities, heart issues, difficulties breathing, and enlargement of the liver and spleen. Symptoms are generally chronic but some patients develop severe complications that are life-threatening.

Please see the general information links or search OMIM for "mucopolysaccharidosis" for more information.

General information links for Mucopolysaccharidoses:

Mucopolysaccharidoses types with causative genes
DisorderHuman geneHuman full nameFly Gene
Mucopolysaccharidosis, Type II; MPS2IDSIduronate 2-sulfataseIds
Mucopolysaccharidosis, Type IIIA; MPS3ASGSHN-sulfoglucosamine sulfohydrolaseSgsh
Mucopolysaccharidosis, Type IIIB; MPS3BNAGLUN-acetylglucosaminidase, alphaCG13397
Mucopolysaccharidosis, Type IIIC; MPS3CHGSNATHeparin alpha-glucosaminide N-acetyltransferaseCG6903
Mucopolysaccharidosis, Type IIID; MPS3DGNSN-acetylglucosamine-6-sulfataseCG18278
Mucopolysaccharidosis, Type IVA; MPS4AGALNSGalactosamine-6-sulfate sulfatase
Mucopolysaccharidosis, Type IVB; MPS4BGLB1Galactosidase, beta-1Ect3
Mucopolysaccharidosis, Type IX; MPS9HYAL1mucopolysac
Mucopolysaccharidosis, Type VI; MPS6ARSBArylsulfatase BCG7402
Mucopolysaccharidosis, Type VII; MPS7GUSBbeta-glucuronidaseCG15117

Stocks for studying Mucopolysaccharidoses
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
CG15117PBac{PB}CG15117[c06357]85072This PBac{PB} insertion in CG15117 coding sequence is uncharacterized but is n unverified lethal suggesting it may disrupt function.
CG15117P{TRiP.HMS00562}attP233693Expresses dsRNA for RNAi of CG15117 (FBgn0034417) under UAS control in the VALIUM20 vector.
CG15117P{TKO.GS00872}attP4077081Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG15117 (FBgn0034417).
CG15117P{EPgy2}CG15117[EY08657]17483This P{EPgy2} insertion in CG15117 is uncharacterized but is in the right orientation to overexpress most CG15117 protein isoforms in the presence of GAL4.
CG15117P{TOE.GS01446}attP4078240Expresses sgRNAs ubiquitously for expression of CG15117 (FBgn0034417) by a Cas9-based transcriptional activator.
CG7402TI{KozakGAL4}CG7402[CR70280-KO-kG4]95019CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under CG7402 control and deletion of some or most of CG7402 coding sequence.
Ect3Mi{MIC}Ect3[MI02526]35996This Mi{MIC} insertion into Ect3 coding sequences (and 5'UTR of Tk) is uncharacterized.
Ect3Ect3[f06233]18951This PBac{WH} insertion in the 5' UTR of both Ect3 and Tk is uncharacterized but is lethal suggesting it disrupts function for one or both genes.
Ect3Df(3R)DeltaTk[2]600323A FRT-mediated deletion made from PBac{WH}Tk[f06233] and P{XP}d02777 results in deletion of the first three exons of Tk (including both coding exons) and the first (noncoding) exon of ect3.
Ect3P{TRiP.HMC05224}attP4062217Expresses dsRNA for RNAi of Ect3 (FBgn0260746) under UAS control in the VALIUM20 vector.
Ect3P{TRiP.GL01237}attP241655Expresses dsRNA for RNAi of Ect3 (FBgn0260746) under UAS control in the VALIUM22 vector.
Ect3TI{CRIMIC.TG4.2}Ect3[CR70994-KO-TG4.2]600090CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under Ect3 control and deletion of some or most of the Ect3 coding sequence. GAL4 expression had not been assessed at the time of donation.
GnsP{TRiP.HMC03452}attP4051878Expresses dsRNA for RNAi of CG18278 (FBgn0033836) under UAS control in the VALIUM20 vector.
GnsP{TRiP.HM05095}attP228607Expresses dsRNA for RNAi of CG18278 (FBgn0033836) and CG30059 (FBgn0260475) under UAS control in the VALIUM10 vector.
GnsP{TRiP.HM05006}attP228520Expresses dsRNA for RNAi of CG18278 (FBgn0033836) and CG30059 (FBgn0260475) under UAS control in the VALIUM10 vector.
GnsTI{KozakGAL4}Gns[CR70845-KO-kG4]98649CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under CG18278 control and deletion of some or most of the CG18278 coding sequence.
GnsP{TKO.GS03505}attP4082594Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG18278 (FBgn0033836).
HgsnatP{EPgy2}Hgsnat[EY13678]21426This P{EPgy2} insertion in CG6903 is uncharacterized but is in coding sequences so could disrupt function.
HgsnatP{EPgy2}Hgsnat[EY08878]16912This P{EPgy2} insertion in CG6903 is uncharacterized but is in coding sequences so could disrupt function.
HgsnatP{TRiP.HMS00307}attP233423Expresses dsRNA for RNAi of CG6903 (FBgn0029737) under UAS control in the VALIUM20 vector.
HgsnatTI{CRIMIC.TG4.0}Hgsnat[CR71393-TG4.0]605453CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under Hgsnat control. GAL4 expression had not been assessed at the time of donation. Please see https://flypush.research.bcm.edu/pscreen/crimic/crimic.php to check for updates.
HgsnatP{TKO.GS00842}attP4077054Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG6903 (FBgn0029737).
HgsnatP{TOE.GS01224}attP4079662Expresses sgRNAs ubiquitously for expression of CG6903 (FBgn0029737) by a Cas9-based transcriptional activator.
IdsP{TRiP.HMJ30081}attP4063004Expresses dsRNA for RNAi of Ids (FBgn0035445) under UAS control in the VALIUM20 vector.
IdsP{TRiP.HMC03475}attP4051901Expresses dsRNA for RNAi of Ids (FBgn0035445) under UAS control in the VALIUM20 vector.
IdsP{TKO.GS00649}attP4076473Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of Ids (FBgn0035445).
IdsP{TOE.GS01418}attP4078226Expresses sgRNAs ubiquitously for expression of Ids (FBgn0035445) by a Cas9-based transcriptional activator.
IDS (human)PBac{UAS-hIDS.HA}VK0003794103Expresses HA-tagged human IDS under UAS control.
NagluTI{TI}Naglu[KO]82436CRISPR/Cas9-mediated homologous dependent repair was used to replace most of the CG13397 coding region (from -23 bp from the ATG to -91 bp from the stop codon) with a cassette carrying lox-P flanked 3xP3-RFP, resulting in a null allele of CG3376.
NagluNaglu[Y160C]83007CRISPR/Cas9-based homologous dependent repair was used to make amino acid change Y160C designed to mimic the Y140C change found in a human N-acetylglucosaminidase, alpha (NAGLU) variant associated with Mucopolysaccharidosis III B (Sanfilippo syndrome B).
NagluNaglu[W422X]83008CRISPR/Cas9-based homologous dependent repair was used to make amino acid change W422stop to mimic the W404stop change found in a human N-acetylglucosaminidase, alpha (NAGLU) variant associated with Mucopolysaccharidosis III B (Sanfilippo syndrome B).
NagluP{TRiP.HMC03368}attP4051808Expresses dsRNA for RNAi of CG13397 (FBgn0014417) under UAS control in the VALIUM20 vector.
NagluTI{KozakGAL4}Naglu[CR71392-KO-kG4]605508Insertion of a CRIMIC results in expression of GAL4 under Naglu control and deletion of some or most of the Naglu coding sequence. GAL4 expression was not assessed at time of donation. See flypush.research.bcm.edu/pscreen/crimic/crimic.php for updates.
NagluP{TKO.GS00785}attP4077011Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of CG13397 (FBgn0014417).
NagluP{TOE.GS01259}attP4078130Expresses sgRNAs ubiquitously for expression of CG13397 (FBgn0014417) by a Cas9-based transcriptional activator.
SgshTI{TI}Sgsh[KO]82437CRISPR/Cas9-mediated homologous dependent repair was used to replace most of the CG14291 coding region (from -93 bp from the ATG to -42 bp from the stop codon) with a cassette carrying lox-P flanked 3xP3-RFP, resulting in a null allele of CG3376.
SgshSgsh[S64W]83006CRISPR/Cas9-mediated homologous dependent repair was used to make aa change S64W designed to mimic the S66W change found in a human N-sulfoglucosamine sulfohydrolase (SGSH) variant associated with Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A).
SgshSgsh[S301P]83011CRISPR/Cas9-mediated homologous dependent repair was used to make aa change S301P designed to mimic the S298P change found in a human N-sulfoglucosamine sulfohydrolase (SGSH) variant associated with Mucopolysaccharidosis type IIIA (Sanfilippo syndrome A).
SgshSgsh[L89P]83010Contains aa change L89P. CG14291 is the ortholog of human sulfatase, SGSH, assoc. with Sanfilipo syndrome. L89P may disrupt enzymatic activity based on aa change L91P found in human sulfatase GALNS (L91P is assoc. with Mucopolysaccharidosis type 4A).
SgshTI{KozakGAL4}Sgsh[CR70818-KO-kG4]600101CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under Sgsh control and deletion of some or most of the Sgsh coding sequence. GAL4 expression was not assessed at the time of donation. Please see the flypush sites for updates.
SgshP{TOE.GS01469}attP4078253Expresses sgRNAs ubiquitously for expression of CG14291 (FBgn0038660) by a Cas9-based transcriptional activator.