FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act88FM320
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General Information
Symbol
Dmel\Act88FM320
Species
D. melanogaster
Name
FlyBase ID
FBal0038095
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
Act88FA138V
Key Links
Genomic Maps

Mutagen
    Nature of the Allele
    Mutagen
    Progenitor genotype
    Cytology
    Description
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    Nucleotide change:

    C15441031T

    Amino acid change:

    A139V | Act88F-PA

    Reported amino acid change:

    A138V

    Comment:

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

    Comment:

    Analogous mutation in human ACTA1 implicated in myopathy, congenital, ACTA1-related; 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 ( 1 )
    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)
     
    This allele represents a human variant implicated in disease.
    ACTA1:p.Ala137Val
    Variants Synonym(s)
    ACTA1:p.Ala135Val
    Associated human disease model(s)
    External database links
    Comments concerning this variant
    Phenotypic Data
    Phenotypic Class
    Phenotype Manifest In
    Detailed Description
    Statement
    Reference

    Ultrastructural analysis shows that indirect flight muscles of homozygous flies contain no myofibrillar lattice, but arrays of thick filaments, often in loose bundles, are visible. Large striped filamentous assemblies ("zebra bodies") are present and these have a regular structure in which Z-disc like Z-bodies seem to occur in regular spaced stacks. Fine filaments, similar to thin filaments, protrude from these structures, filling the space between them.

    Ultrastructural analysis shows that indirect flight muscles of heterozygous flies can contain some myofibrils of almost normal structure, which contain sarcomeres with clear Z-discs and M-lines, although the I-bands appear wider than normal. The phenotype is variable, so that some regions of the muscle contain very abnormal abnormal myofibrillar structures, especially under the sarcolemma, where zebra bodies are seen as an array of barely linked Z-discs.

    Homozygotes show poor walking ability. Females produce significantly fewer eggs than wild type, and progeny consequently complete a major part of their development in utero.

    Demembranated indirect flight muscles of homozygotes demonstrate a pleiotropic effect upon the accumulation of actin-associated myofibrillar proteins, actin, troponin-H, troponin-I, troponin-T and tropomyosin are missing. The myofibrils of heterozygotes show striated fibres with a tendency to fray.

    External Data
    Interactions
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    Phenotypic Class
    Phenotype Manifest In
    Additional Comments
    Genetic Interactions
    Statement
    Reference
    Xenogenetic Interactions
    Statement
    Reference
    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 (2)
    Reported As
    Symbol Synonym
    Name Synonyms
    Secondary FlyBase IDs
      References (5)