FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\MAPTK280Q.UAS.2N4R
Open Close
General Information
Symbol
Hsap\MAPTK280Q.UAS.2N4R
Species
H. sapiens
Name
FlyBase ID
FBal0319135
Feature type
allele
Associated gene
Hsap\MAPT
Associated Insertion(s)
Carried in Construct
P{UAS-hTau.2N4R.K280Q}
Key Links
Transgenic product class
missense_variant
(Gorsky et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Gorsky et al., 2016)
Mutagen
in vitro construct
(Gorsky et al., 2016)
Progenitor genotype
Carried in construct
P{UAS-hTau.2N4R.K280Q}
Cytology
Description

UASt regulatory sequences drive expression of the full-length 2N4R isoform of Hsap\MAPT. The protein has been mutated to carry the amino acid replacement K280Q, which results in a pseudo-acetylated mimic form of the protein.

(Gorsky et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\MAPT
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  tauopathy
      CEA
      (Gorsky 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 adult-onset (feeding adult flies RU486) expression of Hsap\MAPTK280Q.Scer\UAS.2N4R driven by Scer\GAL4elav.Switch.PO show progressive loss of rhabdomeres (around 30% of ommatidia lack at least one rhabdomere by day 27 and degeneration is detectable already at day 9), significantly more degeneration than is seen with expression of Hsap\MAPTScer\UAS.2N4R.wt or Hsap\MAPTK280R.Scer\UAS.2N4R (expression of either of these lines leads to similar amounts of progressive rhabdomere loss).

      Clearance of Hsap\MAPT (2 days of RU486 feeding to induce expression followed by 2 to 5 days without RU486) is significantly slower with expression of Hsap\MAPTK280Q.Scer\UAS.2N4R driven by Scer\GAL4elav.Switch.PO, compared to expression of Hsap\MAPTScer\UAS.2N4R.wt or Hsap\MAPTK280R.Scer\UAS.2N4R.

      Scer\GAL4elav.Switch.PO>Hsap\MAPTK280Q.Scer\UAS.2N4R flies have significant defects in climbing ability when fed RU486 as adults (compared to non-RU486 induced controls at 13 days old); these locomotor defects are significantly less severe in flies with expression of Hsap\MAPTK280R.Scer\UAS.2N4R compared to expression of Hsap\MAPTK280Q.Scer\UAS.2N4R or Hsap\MAPTScer\UAS.2N4R.wt.

      Scer\GAL4elav.Switch.PO>Hsap\MAPTK280Q.Scer\UAS.2N4R flies have significant decreases in lifespan when fed RU486 as adults compared to non-RU486 induced controls.

      (Gorsky 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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\MAPTK280Q.Scer\UAS.2N4R
      Hsap\MAPTK280Q.UAS.2N4R
      Name Synonyms
      Secondary FlyBase IDs
        References (1)