FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\kkv483
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General Information
Symbol
Dmel\kkv483
Species
D. melanogaster
Name
FlyBase ID
FBal0268671
Feature type
allele
Associated gene
Dmel\kkv
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

antimorphic allele - genetic evidence

Mutagen
Nature of the Allele
Allele class

antimorphic allele - genetic evidence

(Rosa et al., 2018)
Mutagen
ethyl methanesulfonate
(Ghabrial et al., 2011)
Progenitor genotype
Cytology
Description

Amino acid replacement: S48R.

(Rosa et al., 2018)

Disrupts a conserved nucleotide in the splice donor site just upstream of the second intron, predicted to result in a S48R missense mutation followed immediately by an in-frame stop codon.

(Rosa et al., 2018)

Nucleotide substitution: G?A.

(Rosa et al., 2018)

Amino acid replacement: ?49term.

(Rosa et al., 2018)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:5,385,668..5,385,668 [-]
Nucleotide change:

G5385668A

Reported nucleotide change:

G?A

Comment:

Nucleotide substitution: GT changed to AG in the splice donor for the second intron. Results in a S48R missense mutation immediately followed by a stop codon (in the intron).

(Rosa 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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      kkv483 mutant embryos exhibit 'blimp' (bloated) defects in cuticular preparations along with degenerated head skeleton. kkv404 terminal tracheal cell clones frequently display apical membrane discontinuities and mutant clones in the dorsal trunk form cysts ('divots') in the gas-filled lumen in heat-killed mosaic third instar larvae.

      (Rosa et al., 2018)

      kkv483 mutants display a strong terminal cell gas-filling defect. Auto-cellular tubes also show this gas-filling defect. Dorsal trunk cells show mild lumen constriction.

      (Ghabrial et al., 2011)
      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
      Fails to complement

      kkv1

      (Ghabrial et al., 2011)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer

      kkv483 shows recessive antimorphic properties (or else carries a second-site modifier).

      (Rosa et al., 2018)
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      483
      (Ghabrial et al., 2011)
      kkv483
      (Rosa et al., 2018)
      kkvsob483
      (Rosa et al., 2018)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)