FB2025_01 , released February 20, 2025
Allele: Hsap\TARDBPW385IfsTer10.UAS
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General Information
Symbol
Hsap\TARDBPW385IfsTer10.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0391519
Feature type
allele
Associated gene
Hsap\TARDBP
Associated Insertion(s)
Carried in Construct
P{UAS-hTARDBP.W385IfsTer10}
Key Links
Transgenic product class
frameshift_variant
(Ervilha Pereira et al., 2023)
Mutagen
Nature of the Allele
Transgenic product class
frameshift_variant
(Ervilha Pereira et al., 2023)
Mutagen
in vitro construct
(Ervilha Pereira et al., 2023)
Progenitor genotype
Carried in construct
P{UAS-hTARDBP.W385IfsTer10}
Cytology
Description

UAS regulatory sequences drive expression of a frameshift mutant of Hsap\TARDBP, p.Trp385IlefsTer10 , a variant identified in a family presenting with an autosomal dominantly inherited rimmed vacuole myopathy.

(Ervilha Pereira et al., 2023)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  amyotrophic lateral sclerosis type 10
      modeled by TBPHΔ23
      (Ervilha Pereira et al., 2023)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Ervilha Pereira et al., 2023)
      TARDBP:p.Trp385IlefsTer10
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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 (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Hsap\TARDBPW385IfsTer10.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)