FB2024_03 , released June 25, 2024
Allele: Dmel\kkvIB22
Open Close
General Information
Symbol
Dmel\kkvIB22
Species
D. melanogaster
Name
FlyBase ID
FBal0179290
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
    Nature of the Allele
    Allele class
    Mutagen
    Progenitor genotype
    Cytology
    Description

    Amino acid replacement: Q45term.

    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    Nucleotide change:

    C5385168T

    Amino acid change:

    Q53term | kkv-PA; Q53term | kkv-PC; Q53term | kkv-PD

    Reported amino acid change:

    Q53term

    Comment:

    Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

    Variant Molecular Consequences
    Associated Sequence Data
    DNA sequence
    Protein sequence
     
    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

    In kkvIB22/kkv63-20 mutants, the cuticular and luminal chitin of the tracheae is absent, and there are dilations and constrictions in the dorsal trunk and apical expansions in other branches. Defects in cuticle formation are also observed.

    In cuticle preparations of mature homozygous embryos, the cuticle detaches from the body and dilates (indicating a loss of cuticle integrity), so that the embryos appear wider, but not longer, than wild-type embryos. Ventral denticle belts and dorsal hairs are present, but the denticle belts are stretched laterally, and probably as a consequence, their arrangement appears sloppy compared to wild type. The number and shape of the denticles is normal and they do not collapse, even though they do not contain chitin. The denticles are less pigmented than normal. The aberrant body shape seen in cuticle preparations is not as dramatic in living mature homozygous embryos manually freed from the egg case, although these embryos appear more transparent than wild-type embryos. The tracheae are not visible in these mutant embryos and the presumptive tracheal cells appear collapsed. The cuticle of mature mutant embryos has a variable thickness, due to abnormalities in the epicuticle and procuticle (the cuticle envelope is normal); the lower epicuticle is broadened at the expense of the upper epicuticle and the procuticle consists of a spongy and amorphous material probably composed of free procuticular chitin-binding proteins instead of protein-chitin laminae. There is no adhesion zone at the surface of the epidermal cell, in contrast to wild type. There is more electron-dense material present in the cuticle of mature mutant embryos compared to wild type. At stage 17, the epicuticle is uneven and penetrates the lower amorphous procuticle in mutant embryos, in contrast to wild-type embryos at this stage where the uniform epicuticle lies above the fibrous procuticle. The adhesion zone at the apical plasma membrane of the epidermal cell is missing in mutant stage 17 embryos. The hindgut and its cuticle appears normal in mature mutant embryos and the cuticle does not detach from the gut epithelium.

    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

    Scer\GAL4btl.PU-mediated expression of kkvScer\UAS.T:Avic\GFP rescues kkvIB22/kkv63-20 defects and restores luminal accumulation of chitin.

    Images (0)
    Mutant
    Wild-type
    Stocks (0)
    Notes on Origin
    Discoverer
    External Crossreferences and Linkouts ( 0 )
    Synonyms and Secondary IDs (2)
    Reported As
    Name Synonyms
    Secondary FlyBase IDs
      References (3)