FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Act88FV163L
Open Close
General Information
Symbol
Dmel\Act88FV163L
Species
D. melanogaster
Name
FlyBase ID
FBal0294736
Feature type
allele
Associated gene
Dmel\Act88F
Associated Insertion(s)
Carried in Construct
P{Act88F.V163L}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Sevdali et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Sevdali et al., 2013)
Mutagen
in vitro construct
(Sevdali et al., 2013)
Progenitor genotype
Act88F+t4.0
(Sevdali et al., 2013)
Carried in construct
P{Act88F.V163L}
Cytology
Description

Amino acid replacement V163L in the Act88F coding region. The equivalent mutation in the human ACTA1 gene is associated with severe actinopathy and intranuclear rods.

(Sevdali et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
Act88F
Encoded product / tool
Act88F
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:15,441,105..15,441,105 [+]
Nucleotide change:

G15441105C

Reported nucleotide change:

G?C

Amino acid change:

V164L | Act88F-PA

Reported amino acid change:

V163L

Comment:

Analogous mutation in human ACTA1 implicated in nemaline myopathy 3; mutation carried on in vitro construct.

(Sevdali et al., 2013)
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  myopathy
      CEA with Act88F6
      (Sevdali et al., 2013)
      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.
      (Sevdali et al., 2013)
      ACTA1:p.Val165Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ACTA1:p.Val163Leu
      Associated human disease model(s)
      External database links
      ClinVar: ACTA1_18282
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Flies carrying one copy of Act88FV163L in a Act88F6/+ background are completely flightless.

      Flies carrying one copy of Act88FV163L in a Act88F6/+ background show major defects in Z-disc organisation in the indirect flight muscles.

      Areas in which Z-discs appear to be splitting apart are seen in the indirect flight muscles of flies carrying one copy of Act88FV163L in a Act88F6/+ background.

      Ring-like Z-disc structures or aggregates and F-actin containing intranuclear rods are seen in the indirect flight muscles of flies carrying one copy of Act88FV163L in a Act88F6/+ background.

      (Sevdali et al., 2013)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments

      Expression of Act88F+t4.0 in flies carrying one copy of Act88FV163L in a Act88F6/+ background largely partially flight ability. Normal myofibril structure in the indirect flight muscles is rescued.

      (Sevdali et al., 2013)
      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
      Act88FV163L
      Name Synonyms
      Secondary FlyBase IDs
        References (2)