FB2025_01 , released February 20, 2025
Allele: Dmel\Col4a1DTS-L2
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General Information
Symbol
Dmel\Col4a1DTS-L2
Species
D. melanogaster
Name
FlyBase ID
FBal0008285
Feature type
allele
Associated gene
Dmel\Col4a1
Associated Insertion(s)
Carried in Construct
Also Known As
DTS2, DTS-L2
Key Links
Genomic Maps

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

    Amino acid replacement: G552D.

    (Kiss et al., 2019)

    Nucleotide substitution: G?A.

    (Kiss et al., 2019)
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    point_mutation
    2L:5,032,640..5,032,640 [+]
    Nucleotide change:

    G5032640A

    Reported nucleotide change:

    G?A

    Amino acid change:

    G552D | Col4a1-PA; G552D | Col4a1-PB; G552D | Col4a1-PC

    Reported amino acid change:

    G552D

    (Kiss et al., 2019)
    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 ( 1 )
        Disease
        Evidence
        References
        model of  collagen disease
        CEA
        (Kiss et al., 2019)
        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

        The oviduct muscle of Col4a1DTS-L2 homoygotes loses the typical sarcomeric structure at the restrictive temperature of 29[o]C, but not at the permissive temperature of 20[o]C; there are areas of actin bundling that extend beyond the area of a regular sarcomere; other sarcomeres show actin aggregates; the Z-disc structure is disrupted; muscle fiber diameters decrease and become more heterogeneous.

        (Kiss et al., 2019)

        Heterozygote membrane phenotype is intermediate between wildtype and l(2)25Ca7 heterozygotes.

        (Szidonya et al., 1990)
        External Data
        Interactions
        Show genetic interaction network for Enhancers & Suppressors
        Phenotypic Class
        Suppressed by
        Suppressor of
        Statement
        Reference

        Col4a1DTS-L2 is a suppressor | partially of lethal | recessive phenotype of vkghsneo80

        (Kelemen-Valkony et al., 2012)

        Col4a1DTS-L2 is a suppressor of lethal | recessive phenotype of vkgsz-14

        (Kelemen-Valkony et al., 2012)

        Col4a1DTS-L2 is a suppressor of lethal | recessive phenotype of vkgsz-78

        (Kelemen-Valkony et al., 2012)

        Col4a1DTS-L2 is a suppressor of lethal | recessive phenotype of vkgsz-6

        (Kelemen-Valkony et al., 2012)

        Col4a1DTS-L2 is a suppressor of lethal | recessive phenotype of vkgb-14

        (Kelemen-Valkony et al., 2012)

        Col4a1DTS-L2 is a suppressor of lethal | recessive phenotype of vkgk16721

        (Kelemen-Valkony et al., 2012)

        Col4a1DTS-L2 is a suppressor of lethal | recessive phenotype of vkgb-35

        (Kelemen-Valkony et al., 2012)
        Other
        Phenotype Manifest In
        Additional Comments
        Genetic Interactions
        Statement
        Reference
        Xenogenetic Interactions
        Statement
        Reference
        Complementation and Rescue Data
        Images (0)
        Mutant
        Wild-type
        Stocks (1)
        Notes on Origin
        Discoverer
        External Crossreferences and Linkouts ( 0 )
        Synonyms and Secondary IDs (7)
        Reported As
        Symbol Synonym
        Cg25CDTS-L2
        Col4a1DTS-L2
        DTS-L2
        (Kiss et al., 2019, Kelemen-Valkony et al., 2012)
        DTS2
        (Szidonya and Reuter, 1988, Szidonya and Reuter, 1988)
        col4a1G552D1
        (Kiss et al., 2019)
        l(2)25Ca1
        l(2)2DTS
        (Szidonya et al., 1990)
        Name Synonyms
        Secondary FlyBase IDs
          References (6)