FB2025_01 , released February 20, 2025
Allele: Dmel\Actn3
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General Information
Symbol
Dmel\Actn3
Species
D. melanogaster
Name
FlyBase ID
FBal0000277
Feature type
allele
Associated gene
Dmel\Actn
Associated Insertion(s)
Carried in Construct
Also Known As
fliA3
Key Links
Genomic Maps

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

Point mutation.

(Roulier et al., 1992, Fyrberg et al., 1990)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:2,029,841..2,029,841 [-]
Nucleotide change:

G2029841A

Amino acid change:

Q257Q | Actn-PB; Q257Q | Actn-PC; Q257Q | Actn-PD; Q257Q | Actn-PG; Q257Q | Actn-PH; Q257Q | Actn-PI; Q257Q | Actn-PJ

Comment:

Actn3 is a silent substitution in a Gln codon from GAG to GAA which is reported to change the context of the adjacent splice donor sequence.

(Roulier et al., 1992)
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

      Abnormalities are present in the fibrillar and tubular flight and leg muscles.

      (Roulier et al., 1992)

      Thoracic muscle abnormalities, easily detach from cuticle and readily dissociate into single fibers: Z discs and myofibrillar attachments are disrupted. Epithelial 'tendon' cells are less affected.

      (Fyrberg et al., 1990)

      Homozygotes are flightless with a normal wing posture.

      (Homyk and Emerson, 1988)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Other
      Statement
      Reference

      Actn3, wupAhdp-2 has flightless | dominant phenotype

      (Homyk and Emerson, 1988)
      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

      Homyk.

      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Actn3
      fliA3
      (Vigoreaux, 2001, Roulier et al., 1992, Fyrberg et al., 1991, Fyrberg et al., 1990, Belyaeva et al., 1982)
      Name Synonyms
      Secondary FlyBase IDs
        References (8)