FB2024_03 , released June 25, 2024
Allele: Hsap\TARDBPG294A.DsR+.Tag:FLAG
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General Information
Symbol
Hsap\TARDBPG294A.DsR+.Tag:FLAG
Species
H. sapiens
Name
FlyBase ID
FBal0335739
Feature type
allele
Associated gene
Hsap\TARDBP
Associated Insertion(s)
TI{TI}TBPHKO.hTARDBP.G294A.DsR+
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Chang and Morton, 2017)
gene targeting by homologous recombination
(Chang and Morton, 2017)
Progenitor genotype
Associated Insertion(s)
TI{TI}TBPHKO.hTARDBP.G294A.DsR+
Cytology
Description

The endogenous TBPH coding region is replaced with fly codon-optimized Hsap\TARDBP cDNA with an N-terminal Tag:FLAG tag and a Disc\RFPDsRed.3xP3.cUa marker flanked by loxP sites at the C-terminal. The Hsap\TARDBP cDNA contains an ALS-associated sporadic mutation (G294A) and is expressed under the control of the endogenous TBPH regulatory regions.

(Chang and Morton, 2017)
Allele components
Component
Use(s)
Tagged with
Tag:FLAG
Also carries
loxP
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 ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Chang and Morton, 2017)

      See also TBPHKO.hTARDBP.G294A.DsR+.

      TARDBP:p.Gly294Ala
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: TARDBP_5230
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\TARDBPG294A.DsR+.T:Zzzz\FLAG
      Hsap\TARDBPG294A.DsR+.Tag:FLAG
      TDP-43G294A
      (Lehmkuhl et al., 2021)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)