FB2025_01 , released February 20, 2025
Allele: Dmel\SB0453
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General Information
Symbol
Dmel\SB0453
Species
D. melanogaster
Name
FlyBase ID
FBal0343470
Feature type
allele
Associated gene
Dmel\S
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: E467K.

    (Schwarz et al., 2018)

    Missense mutation in conserved part of lumenal domain.

    (Schwarz et al., 2018)
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    point_mutation
    2L:1,052,568..1,052,568 [-]
    Nucleotide change:

    G1052568A

    Reported nucleotide change:

    G25248A

    Amino acid change:

    E467K | S-PA; E467K | S-PB

    Reported amino acid change:

    E467K

    (Schwarz 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

        SB0453 mutant embryos show cardioblast (CB) patterning defects, and a severely decreased number of cardioblasts, namely of generic cardioblasts, leading to a lower generic CBs:ostial CBs ratio than the typical 4:2 ratio. These embryos also exhibit a significant decrease in the number of odd pericardial cells, although even pericardial cells are unaffected, as compared to controls.

        (Schwarz et al., 2018)
        External Data
        Interactions
        Show genetic interaction network for Enhancers & Suppressors
        Phenotypic Class
        Enhanced by
        Statement
        Reference

        SB0453 has abnormal cell number | embryonic stage phenotype, enhanceable by Ecol\lacZsvp-AE127

        (Schwarz et al., 2018)
        Suppressed by
        Phenotype Manifest In
        Enhanced by
        Statement
        Reference

        SB0453 has embryonic cardioblast phenotype, enhanceable by Ecol\lacZsvp-AE127

        (Schwarz et al., 2018)

        SB0453 has heart primordium phenotype, enhanceable by Ecol\lacZsvp-AE127

        (Schwarz et al., 2018)
        Suppressed by
        Other
        Additional Comments
        Genetic Interactions
        Statement
        Reference
        Xenogenetic Interactions
        Statement
        Reference

        The overall decrease in the number of cardioblasts in SB0453 mutant embryos is not affected by Ecol\lacZsvp-AE127; however, ostial cardioblasts become absent while generic cardioblasts increase in number.

        The decreased numbers of cardioblasts (namely generic cardioblasts) in SB0453 mutant embryos are partially suppressed by the additional expression of BacA\p35UAS.cHa under the control of Scer\GAL4how-24B.

        (Schwarz et al., 2018)
        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
        SB0453
        (Schwarz et al., 2018)
        Name Synonyms
        Secondary FlyBase IDs
          References (1)