FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\LamCM553R.UAS
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General Information
Symbol
Dmel\LamCM553R.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0282444
Feature type
allele
Associated gene
Dmel\LamC
Associated Insertion(s)
Carried in Construct
P{UAS-LamC.M553R}
Also Known As
M553R
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Dialynas et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Dialynas et al., 2012)
Mutagen
in vitro construct
(Dialynas et al., 2012)
Progenitor genotype
Carried in construct
P{UAS-LamC.M553R}
Cytology
Description

UASt regulatory sequences drive expression of LamC containing the amino acid replacement M553R (this is equivalent to a W514R mutation in the human Hsap\LMNA gene).

(Dialynas et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
LamC
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:14,571,521..14,571,521 [-]
Nucleotide change:

T14571521G

Amino acid change:

M553R | LamC-PA; M553R | LamC-PB

Reported amino acid change:

M553R

Comment:

Mutation in analogous codon in human LMNA putatively associated with muscular dystropy; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Dialynas et al., 2012)
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
      (Dialynas et al., 2012)
      model of  muscular dystrophy
      CEA
      (Dialynas 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.
      (Dialynas et al., 2012)
      LMNA:p.Trp514Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      LMNA:p.Trp402Arg
      LMNA:p.Trp433Arg
      Associated human disease model(s)
      External database links
      ClinVar: LMNA_246077
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of LamCM553R.Scer\UAS under the control of Scer\GAL4C57 leads to larval locomotion defects and semi-lethality at the pupal stage. A subset of the larval body wall muscles show abnormally shaped and spaced nuclei, and disorganization of the actin cytoskeleton.

      (Dialynas et al., 2015)

      Third instar larvae expressing LamCM553R.Scer\UAS under the control of Scer\GAL4C57 show reduced mobility. Myonuclei appear aggregated in approximately 30% of body wall muscles.

      (Dialynas et al., 2012)
      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 (3)
      Reported As
      Symbol Synonym
      LamCM553R.Scer\UAS
      LamCM553R.UAS
      M553R
      (Dialynas et al., 2015)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)