FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\LamCR564C.UAS
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General Information
Symbol
Dmel\LamCR564C.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0325872
Feature type
allele
Associated gene
Dmel\LamC
Associated Insertion(s)
Carried in Construct
P{UAS-LamC.R564C}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Li et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Li et al., 2016)
Mutagen
in vitro construct
(Li et al., 2016)
Progenitor genotype
Carried in construct
P{UAS-LamC.R564C}
Cytology
Description

UASt regulatory sequences drive expression of LamC cDNA with site-directed mutagenesis (R564C).

(Li et al., 2016)
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:14,571,487..14,571,489 [-]
Nucleotide change:

CGA14571489TGT

Reported nucleotide change:

CGA>TGT

Amino acid change:

R564C | LamC-PA; R564C | LamC-PB

Reported amino acid change:

R564C

Comment:

Analogous R527C mutation in human LMNA implicated in Hutchinson-Gilford progeria syndrome; mutation carried on in vitro construct.

(Li et al., 2016)
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)
       
      This allele represents a human variant implicated in disease.
      (Li et al., 2016)
      LMNA:p.Arg527Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      LMNA:p.Arg415Cys
      LMNA:p.Arg446Cys
      Associated human disease model(s)
      External database links
      ClinVar: LMNA_14487
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of LamCR564C.Scer\UAS under the control of Scer\GAL4BG487 in LamCEX265/LamCEX296 transheterozygotes, but not in LamCunspecified heterozygotes, results in a strong increase in the number of nuclei exhibiting more than 10 abnormal lamina blebs in third instar larval muscles 6 and 7, as compared to controls.

      (Li et al., 2016)
      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
      Fails to rescue

      Scer\GAL4Mhc.PW/LamCR564C.UAS fails to rescue LamCEX296/LamCEX265

      (Li et al., 2016)
      Comments

      The expression of LamCR564C.Scer\UAS under the control of Scer\GAL4Mhc.PW fails to rescue both the lethality before adulthood and the increased proportion of 'ghost' neuromuscular junctions in third instar larval muscles 6 and 7, observed in LamCEX265/LamCEX296 transheterozygotes.

      (Li et al., 2016)
      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
      LamCR564C.Scer\UAS
      LamCR564C.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)