General Information
Symbol
Dmel\kkv483
Species
D. melanogaster
Name
FlyBase ID
FBal0268671
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
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).
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference
Amino acid replacement: S48R.
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.
Nucleotide substitution: G?A.
Amino acid replacement: ?49term.
Expression Data
Reporter Expression
Additional Information
Statement
Reference
 
Marker for
Reflects expression of
Reporter construct used in assay
Human Disease Model Data
Disease Ontology
Models ( 0 )
Disease
Evidence
References
Interactions ( 0 )
Disease
Interaction
References
Comments ( 0 )
 
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.
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.
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
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
kkv483 shows recessive antimorphic properties (or else carries a second-site modifier).
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (2)