FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\DUX4UASp.MAL.Tag:HA
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General Information
Symbol
Hsap\DUX4UASp.MAL.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0318787
Feature type
allele
Associated gene
Hsap\DUX4
Associated Insertion(s)
Carried in Construct
P{UASp-hDUX4.MAL}
Key Links
Transgenic product class
Mutagen
Nature of the Allele
Transgenic product class
Mutagen
in vitro construct
(Jones et al., 2016)
Progenitor genotype
Carried in construct
P{UASp-hDUX4.MAL}
Cytology
Description

UASp regulatory sequences drive expression of the coding sequence of Hsap\DUX4, with the sequence starting from the second of the two potential in-frame methionines in the coding sequence (base pair 5094 relative to a KpnI site 5' to the gene), producing a protein that starts with the amino acid residues MAL. The Hsap\DUX4 sequence has been codon optimised for expression in Drosophila and is tagged at the N-terminal end with Tag:HA.

(Jones et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UASp
Encoded product / tool
Hsap\DUX4
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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  facioscapulohumeral muscular dystrophy
      CEA
      (Jones et al., 2016)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Flies with germline expression of Hsap\DUX4Scer\UAS.P\T.MAL.T:Ivir\HA1 driven by Scer\GAL4nos.UTR.T:Hsim\VP16 are viable, but males are sterile and have malformed testis (extremely small, with relatively normal accessory gland and anterior ejaculatory duct) and lack fully mature sperm. Females are fertile, with apparently normal ovaries. When expression of Hsap\DUX4Scer\UAS.P\T.MAL.T:Ivir\HA1 is driven by Scer\GAL4GMR.long the majority die during the pupal stage and there is extremely low (or no) male survival; all female survivors lack organized ommatidia in the eye, corneal lenses and pigment cells are completely missing, and bristles are irregularly dispersed.

      (Jones et al., 2016)
      External 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 (2)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\DUX4Scer\UAS.P\T.MAL.T:Ivir\HA1
      Hsap\DUX4UASp.MAL.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (1)