FB2024_03 , released June 25, 2024
Allele: Dmel\Act57BM306L.UAS.GFP
Open Close
General Information
Symbol
Dmel\Act57BM306L.UAS.GFP
Species
D. melanogaster
Name
FlyBase ID
FBal0362573
Feature type
allele
Associated gene
Dmel\Act57B
Associated Insertion(s)
Carried in Construct
P{UAS-Act57B.M306L.GFP}
Key Links
Transgenic product class
missense_variant
(Viswanathan et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Viswanathan et al., 2020)
Mutagen
in vitro construct
(Viswanathan et al., 2020)
Progenitor genotype
Carried in construct
P{UAS-Act57B.M306L.GFP}
Cytology
Description

UAS regulatory sequences drive expression of Act57B carrying an amino acid substitution equivalent to a M307L change in the orthologous human ACTC1 gene, a variant associated with hypertrophic cardiomyopathy. The coding sequence is tagged with GFP. (FlyBase curator comment: the mutation in the human ACTC1 gene is given as M305L in FBrf0246480, M307L is the change relative to the UniProtKB:P68032 sequence. In addition, the mutation in the Act57B gene is given as M304L in FBrf0246480, however analysis of the release 6.35 annotated gene model indicates the change to be M306L).

(Viswanathan et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Act57B
Tagged with
GFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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  hypertrophic cardiomyopathy 11
      CEA
      (Viswanathan et al., 2020)
      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.
      (Viswanathan et al., 2020)
      ACTC1:p.Met307Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      UniProtKB/Swiss-Prot variant: VAR_046504.html
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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
      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
      Act57BM306L.UAS.GFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)