FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\TARDBPM337V.UAS.cLa
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General Information
Symbol
Hsap\TARDBPM337V.UAS.cLa
Species
H. sapiens
Name
FlyBase ID
FBal0314154
Feature type
allele
Associated gene
Hsap\TARDBP
Associated Insertion(s)
Carried in Construct
P{UAS-hTDP-43.M337V}
Key Links
Transgenic product class
missense_variant
(Lu et al., 2009)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Lu et al., 2009)
Mutagen
in vitro construct
(Lu et al., 2009)
Progenitor genotype
Carried in construct
P{UAS-hTDP-43.M337V}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\TARDBP containing the amino acid replacement M337V (this mutation is associated with the disease amyotrophic lateral sclerosis).

(Lu et al., 2009)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\TARDBP
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  amyotrophic lateral sclerosis type 10
      CEA
      (Coyne et al., 2017)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  amyotrophic lateral sclerosis type 10
      is ameliorated by Hsc70-4wt.UAS.Tag:HA
      (Coyne et al., 2017)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Lu et al., 2009)
      TARDBP:p.Met337Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: TARDBP_5228
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\TARDBPM337V.Scer\UAS.cLa under the control of Scer\GAL4elav.PU results in embryonic lethality at 25[o]C, but these flies are viable at 18[o]C and exhibit abnormal climbing ability, as compared to controls.

      Expression of Hsap\TARDBPM337V.Scer\UAS.cLa under the control of Scer\GAL4GMR.PU does not lead to any obvious eye phenotype.

      (Choksi et al., 2014)

      Expression of Hsap\TARDBPM337V.Scer\UAS.cLa under the control of Scer\GAL4vg.PU results in a subset of flies possessing supernumerary scutellar bristles.

      (Li et al., 2013)
      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

      Co-expression of dcoScer\UAS.cUa does not lead to any obvious eye phenotype in flies expressing Hsap\TARDBPM337V.Scer\UAS.cLa under the control of Scer\GAL4GMR.PU.

      (Choksi et al., 2014)
      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\TARDBPM337V.Scer\UAS.cLa
      Hsap\TARDBPM337V.UAS.cLa
      Name Synonyms
      Secondary FlyBase IDs
        References (6)