FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Allele: Dmel\tkvR409C-mCherry
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General Information
Symbol
Dmel\tkvR409C-mCherry
Species
D. melanogaster
Name
FlyBase ID
FBal0361927
Feature type
allele
Associated gene
Dmel\tkv
Associated Insertion(s)
TI{TI}tkvR409C-mCherry
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
FLPase
(Akiyama et al., 2018)
Progenitor genotype
TI{TI}tkvGFP.FRT.R409C-mCh
(Akiyama et al., 2018)
Associated Insertion(s)
TI{TI}tkvR409C-mCherry
Cytology
Description

The FRT cassette present in TI{TI}tkvGFP.FRT.R409C-mCh has been excised, removing the GFP-tagged wild-type tkv coding sequence and allowing expression of the mutated mCherry-tagged tkv coding sequence that remains; this mutated sequence carries a R443C change in the orthologous human BMPR1A gene, a variant identified in patients with Juvenile polyposis syndrome).

(Akiyama et al., 2018)
Allele components
Component
Use(s)
Tagged with
mCherry
Also carries
FRT
loxP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:5,220,398..5,220,398 [-]
Nucleotide change:

C5220398T

Reported nucleotide change:

CGC>TGC

Amino acid change:

R463C | tkv-PA; R431C | tkv-PB; R475C | tkv-PC; R409C | tkv-PD

Reported amino acid change:

R409C

(Akiyama et al., 2018)
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
      DOES NOT model  juvenile polyposis syndrome
      CEA
      (Akiyama et al., 2018)
      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.
      (Akiyama et al., 2018)

      Variant in flies does not model disease.

      (FlyBase curators, 2019-)
      BMPR1A:p.Arg443Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
        External database links
        ClinVar: 133717
        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
        tkvR409C-mCherry
        (Akiyama et al., 2018)
        Name Synonyms
        Secondary FlyBase IDs
          References (2)