FB2024_03 , released June 25, 2024
Allele: Dmel\klar1
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General Information
Symbol
Dmel\klar1
Species
D. melanogaster
Name
FlyBase ID
FBal0005769
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Mutagen
    Nature of the Allele
    Mutagen
    Progenitor genotype
    Cytology
    Description

    Amino acid replacement: Q1555term.

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

    C443803T

    Amino acid change:

    Q1555term | klar-PA; Q1338term | klar-PB; Q1555term | klar-PD; Q1565term | klar-PE; Q929term | klar-PF; Q473term | klar-PG; Q929term | klar-PH

    Reported amino acid change:

    Q1555term

    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

    VL3 muscles in klar1 homozygous larvae exhibit nuclear positioning defects: present significantly shorter internuclear distances and longer nucleus-muscle edge distance, and significantly shorter distance between nuclear lines, as compared to controls; heterozygotes also show a significantly shorter internuclear distance, as compared to controls. Homozygous embryonic LT muscles exhibit nucleus clustering near the ventral end of the muscle or unequally distributed along the muscle, but no changes in nucleus:muscle area ratio, as compared to controls.

    At 25[o]C the fraction and net velocity vector of motile osk ribonucleoproteins (RNPs) in klarYG3/klar1 oocytes is not significantly different from wild type. However the mean speed is slightly, but significantly reduced and RNP travel distance is significantly increased. At 18[o]C, the fraction of motile osk RNPs in the mutant oocytes is double that seen in control oocytes in a given imaging period. The RNP travel distance is significantly increased compared to wild type at this temperature.

    klar1 embryos show aberrant lipid droplet transport.

    Embryos laid by homozygous females are unusually transparent from gastrulation onward. The lipid droplets of these embryos are concentrated in the yolk sac, rather than distributed throughout the cellular layer as in wild-type. This is because basally accumulated droplets only spread apically to a minor degree during gastrulation. These embryos show no defects in cellularisation or gastrulation, and the distribution of nuclei, yolk vesicles and mitochondria is normal. Photoreceptor nuclei are mispositioned along the apical-basal axis in third larval instar eye discs, with most nuclei being found near the basal surface of the disc. Some nuclei migrate into axons in the optic stalk. The rhabdomeres of many photoreceptor cells are misshapen or missing in homozygous adult eyes.

    maternal-effect No effect on viability or fertility of homozygotes. Homozygous females produce eggs with clear distinction between yolk and germ layers. Facilitates in vivo observation of developmental processes.

    External Data
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    Phenotypic Class
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    Phenotype Manifest In
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    Reference
    Xenogenetic Interactions
    Statement
    Reference
    Complementation and Rescue Data
    Images (0)
    Mutant
    Wild-type
    Stocks (6)
    Notes on Origin
    Discoverer
    External Crossreferences and Linkouts ( 0 )
    Synonyms and Secondary IDs (2)
    Reported As
    Name Synonyms
    Secondary FlyBase IDs
      References (7)