FB2025_01 , released February 20, 2025
Allele: Dmel\tkvC97R-mCherry
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General Information
Symbol
Dmel\tkvC97R-mCherry
Species
D. melanogaster
Name
FlyBase ID
FBal0361925
Feature type
allele
Associated gene
Dmel\tkv
Associated Insertion(s)
TI{TI}tkvC97R-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.C97R-mCh
(Akiyama et al., 2018)
Associated Insertion(s)
TI{TI}tkvC97R-mCherry
Cytology
Description

The FRT cassette present in TI{TI}tkvGFP.FRT.C97R-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 C97R point mutation (this change is equivalent to a C130R 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
MNV
2L:5,221,332..5,221,334 [-]
Nucleotide change:

TGC5221334CGG

Reported nucleotide change:

TGC>CGG

Amino acid change:

C151R | tkv-PA; C119R | tkv-PB; C163R | tkv-PC; C97R | tkv-PD

Reported amino acid change:

C97R

Comment:

Analogous C130R mutation in human BMPR1A implicated in Juvenile polyposis syndrome.

(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
      model of  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)
      BMPR1A:p.Cys130Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 429088
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Nearly fully tkvC97R-mCherry/tkvC97R-mCherry clonal wing discs are small. Residual wild-type clones within these wing discs produce rounded outgrowths.

      Individuals with tkvC97R-mCherry/+ mosaic wing discs show wing and wing vein patterning defects; if more clonal cells are induced in the wing disc, wing vein defects are not observed.

      In individuals with tkvC97R-mCherry/tkvC97R-mCherry mosaic wing discs, the majority of the homozygous clones are basally eliminated from the epithelium. Such kind of clone elimination or apoptotic cell death is not observed for tkvC97R-mCherry/+

      (Akiyama et al., 2018)
      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
      tkvC97R-mCherry
      (Akiyama et al., 2018)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)