FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\TpihTPI.I170V
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General Information
Symbol
Dmel\TpihTPI.I170V
Species
D. melanogaster
Name
FlyBase ID
FBal0320062
Feature type
allele
Associated gene
Dmel\Tpi
Associated Insertion(s)
TI{TI}TpihTPI.I170V
Carried in Construct
Key Links
Allele class

loss of function allele

Mutagen
Nature of the Allele
Allele class

loss of function allele

(Roland et al., 2015)
Mutagen
phiC31 integrase
(Roland et al., 2015)
cre recombinase
(Roland et al., 2015)
Progenitor genotype
Associated Insertion(s)
TI{TI}TpihTPI.I170V
Cytology
Description

The endogenous Tpi coding region has been removed. Hsap\TPI1 coding sequence carrying the disease-associated I170V amino acid replacement has been inserted in its place by phiC31:int-mediated integration into the attP site present in TpiattP.

(Roland et al., 2015)
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  triosephosphate isomerase deficiency
      CEA with Tpisgk-js10
      (Roland et al., 2015)
      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.
      (Roland et al., 2015)
      TPI1:p.Ile208Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TPI1:p.Ile89Val
      TPI1:p.Ile171Val
      TPI1:p.Ile170Val
      Associated human disease model(s)
      External database links
      ClinVar: TPI1_12472
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Compared to Tpisgk-js10/TpihTPI.WT control heterozygotes, Tpisgk-js10/TpihTPI.I170V flies (both 3-4 and 20-22 days old) are more sensitive to mechanical- (significant increase in recovery time) and thermal- (significant decrease in time to paralysis) stress, but do not show significant changes in lifespan.

      (Roland et al., 2015)
      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
      TpihTPI.I170V
      Name Synonyms
      Secondary FlyBase IDs
        References (2)