FB2025_01 , released February 20, 2025
Allele: Hsap\MAPTR406W.UAS.cUa
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General Information
Symbol
Hsap\MAPTR406W.UAS.cUa
Species
H. sapiens
Name
FlyBase ID
FBal0322542
Feature type
allele
Associated gene
Hsap\MAPT
Associated Insertion(s)
Carried in Construct
P{UAS-htau.R406W.U}
Also Known As
UAS-TauR406W, UAS-Tau R406W
Key Links
Transgenic product class
missense_variant
(Pfleger et al., 2010)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Pfleger et al., 2010)
Mutagen
in vitro construct
(Pfleger et al., 2010)
Progenitor genotype
Carried in construct
P{UAS-htau.R406W.U}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\MAPT carrying the R406W mutation.

(Pfleger et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  tauopathy
      is exacerbated by Mettl3RNAi.UAS.cUa
      (Shafik et al., 2021)
      is exacerbated by Mettl4RNAi.UAS.cUa
      (Shafik et al., 2021)
      is exacerbated by YthdfRNAi.UAS.cUa
      (Shafik et al., 2021)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Pfleger et al., 2010)
      MAPT:p.Arg723Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      MAPT:p.Arg406Trp
      MAPT:p.Arg798Trp
      MAPT:p.Arg317Trp
      MAPT:p.Arg348Trp
      MAPT:p.Arg377Trp
      Associated human disease model(s)
      External database links
      ClinVar: MAPT_14247
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\MAPTR406W.UAS.cUa under the control of Scer\GAL4elav-C155 results in increased vacuolization in brains of 10 day old adults, compared to controls.

      (Hsieh et al., 2019)

      Expression of Hsap\MAPTR406W.Scer\UAS.cUa under the control of Scer\GAL4ey.PH results in a severe eye phenotype: they eyes are dramatically reduced or completely absent.

      (Pfleger et al., 2010)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Enhanced by
      Statement
      Reference

      Hsap\MAPTR406W.UAS.cUa, Scer\GAL4elav-C155 has adult brain phenotype, enhanceable by SmBMI07584-GFSTF.0/SmB[+]

      (Hsieh et al., 2019)

      Hsap\MAPTR406W.UAS.cUa, Scer\GAL4elav-C155 has adult brain phenotype, enhanceable by snRNP-U1-70K[+]/snRNP-U1-70K2

      (Hsieh et al., 2019)
      NOT Enhanced by
      NOT suppressed by
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\MAPTR406W.Scer\UAS.cUa
      Hsap\MAPTR406W.UAS.cUa
      Name Synonyms
      Secondary FlyBase IDs
        References (11)