FB2025_01 , released February 20, 2025
Allele: Dmel\l(2)eflR120G.UASp.Venus
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General Information
Symbol
Dmel\l(2)eflR120G.UASp.Venus
Species
D. melanogaster
Name
FlyBase ID
FBal0318518
Feature type
allele
Associated gene
Dmel\l(2)efl
Associated Insertion(s)
Carried in Construct
P{UASp-Venus-CryAB.R120G}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Wójtowicz et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Wójtowicz et al., 2015)
Mutagen
in vitro construct
(Wójtowicz et al., 2015)
Progenitor genotype
Carried in construct
P{UASp-Venus-CryAB.R120G}
Cytology
Description

UASp regulatory sequences drive expression of l(2)efl carrying the amino acid replacement R120G (the equivalent mutation in the human ortholog is associated with desmin-related myopathy). The protein is tagged with Venus.

(Wójtowicz et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASp
Encoded product / tool
l(2)efl
Tagged with
Venus
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:23,685,013..23,685,013 [-]
Nucleotide change:

A23685013G

Amino acid change:

R124G | l(2)efl-PA; R124G | l(2)efl-PC

Reported amino acid change:

R124G

Comment:

Analogous mutation in human CRYAB implicated in myopathy, myofibrillar, 2; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Wójtowicz et al., 2015)
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  myofibrillar myopathy 2
      CEA
      (Wójtowicz et al., 2015)
      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.
      (Wójtowicz et al., 2015)
      CRYAB:p.Arg120Gly
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CRYAB:p.Arg53Gly
      Associated human disease model(s)
      External database links
      ClinVar: CRYAB_16953
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Compared to overexpression of l(2)eflScer\UAS.P\T.T:Avic\GFP-YFP.Venus, overexpression of l(2)eflR120G.Scer\UAS.P\T.T:Avic\GFP-YFP.Venus driven by Scer\GAL4Mef2.PR leads to severe sarcomere organization defects (abnormal/irregular Z-bands, formation of aggregates, misaligned myofibrils) in muscles, significant locomotion defects, and decreased contractility index (length of relaxed versus contracted muscle fibers) in ventral longitudinal muscles 3 and 4 in third instar larvae.

      Overexpression l(2)eflR120G.Scer\UAS.P\T.T:Avic\GFP-YFP.Venus driven by Scer\GAL4Hand.PA significantly increases arrhythmia in adult hearts. l(2)eflR120G.Scer\UAS.P\T.T:Avic\GFP-YFP.Venus/+ alone or overexpression l(2)eflR120G.Scer\UAS.P\T.T:Avic\GFP-YFP.Venus driven by Scer\GAL4Hand.PA significantly increases systolic diameter, decreases systolic intervals, increases diastolic diameters and decreases fractional shortening compared to wild type.

      (Wójtowicz et al., 2015)
      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 (2)
      Reported As
      Symbol Synonym
      l(2)eflR120G.Scer\UAS.P\T.T:Avic\GFP-YFP.Venus
      l(2)eflR120G.UASp.Venus
      Name Synonyms
      Secondary FlyBase IDs
        References (2)