FB2026_02 , released June 18, 2026
Allele: Dmel\NagluY160C
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General Information
Symbol
Dmel\NagluY160C
Species
D. melanogaster
Name
FlyBase ID
FBal0408255
Feature type
allele
Associated gene
Dmel\Naglu
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

loss of function allele

Mutagen
Nature of the Allele
Allele class

loss of function allele

(Simkhada et al., 2025)
Mutagen
gene targeting by homologous recombination
(Simkhada et al., 2025, Mast and DiPrimio, 2019.7.23)
CRISPR/Cas9
(Simkhada et al., 2025, Mast and DiPrimio, 2019.7.23)
Progenitor genotype
Cytology
Description

A Y160C amino acid change has been introduced into endogenous Naglu, equivalent to a Y140C change in Hsap\NAGLU (associated with Mucopolysaccharidosis IIIB disorder).

(Simkhada et al., 2025)

A Y160C amino acid change has been introduced into the endogenous CG13397 locus. This change is equivalent to a Y140C change in the orthologous human NAGLU gene, a variant that is associated with Mucopolysaccharidosis III B (Sanfilippo syndrome B).

(Mast and DiPrimio, 2019.7.23)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:8,410,987..8,410,987 [-]
Nucleotide change:

A8410987G

Amino acid change:

Y160C | Naglu-PA; Y160C | Naglu-PB

Reported amino acid change:

Y160C

Comment:

A Y160C amino acid change has been introduced into the endogenous CG13397 locus. This change is equivalent to a Y140C change in the orthologous human NAGLU gene, a variant that is associated with Mucopolysaccharidosis III B (Sanfilippo syndrome B). Site of nucleotide substitution in mutant inferred by FlyBase curator based on reported amino acid change.

(Simkhada et al., 2025, Mast and DiPrimio, 2019.7.23)
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 1 )
      Disease
      Evidence
      References
      model of  mucopolysaccharidosis type IIIB
      CEA
      (Simkhada et al., 2025)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Simkhada et al., 2025, Mast and DiPrimio, 2019.7.23)
      NAGLU:p.Tyr140Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: NAGLU_371634
      Comments concerning this variant
      Phenotypic Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      CG13397Y160C
      (Mast and DiPrimio, 2019.7.23)
      NagluY160C.S
      NagluY160C
      (Simkhada et al., 2025)
      Name Synonyms
      Secondary FlyBase IDs
      • FBal0407855
      • FBal0351694
      References (4)