FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\LamCE174K.UAS
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General Information
Symbol
Dmel\LamCE174K.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0325873
Feature type
allele
Associated gene
Dmel\LamC
Associated Insertion(s)
Carried in Construct
P{UAS-LamC.E174K}
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.E174K}
Cytology
Description

UASt regulatory sequences drive expression of LamC cDNA with site-directed mutagenesis (E174K).

(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:14,572,729..14,572,729 [-]
Nucleotide change:

G14572729A

Reported nucleotide change:

GAG>AAG

Amino acid change:

E174K | LamC-PA; E174K | LamC-PB

Reported amino acid change:

E174K

Comment:

Analogous E159K 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 ( 1 )
      Disease
      Evidence
      References
      model of  progeria
      CEA with LamCunspecified
      (Li et al., 2016)
      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.Glu159Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      LMNA:p.Glu47Lys
      LMNA:p.Glu78Lys
      Associated human disease model(s)
      External database links
      ClinVar: LMNA_66900
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In

      A band | adult stage | progressive, with LamCunspecified, Scer\GAL4Mhc.PW

      (Li et al., 2016)

      dorsal longitudinal indirect flight muscle cell | adult stage | progressive, with LamCunspecified, Scer\GAL4Mhc.PW

      (Li et al., 2016)

      mitochondrial crista | adult stage | progressive, with LamCunspecified, Scer\GAL4Mhc.PW

      (Li et al., 2016)

      mitochondrion | adult stage | progressive, with LamCunspecified, Scer\GAL4Mhc.PW

      (Li et al., 2016)

      muscle cell of A1-7 ventral longitudinal muscle 3 | third instar larval stage, with LamCEX296/LamCEX265, Scer\GAL4BG487

      (Li et al., 2016)

      muscle cell of A1-7 ventral longitudinal muscle 3 | third instar larval stage, with LamCunspecified, Scer\GAL4BG487

      (Li et al., 2016)

      muscle cell of A1-7 ventral longitudinal muscle 4 | third instar larval stage, with LamCEX296/LamCEX265, Scer\GAL4BG487

      (Li et al., 2016)

      muscle cell of A1-7 ventral longitudinal muscle 4 | third instar larval stage, with LamCunspecified, Scer\GAL4BG487

      (Li et al., 2016)

      myotube | adult stage | progressive, with LamCunspecified, Scer\GAL4Mhc.PW

      (Li et al., 2016)

      nuclear lamina | third instar larval stage, with LamCEX296/LamCEX265, Scer\GAL4BG487

      (Li et al., 2016)

      nuclear lamina | third instar larval stage, with LamCunspecified, Scer\GAL4BG487

      (Li et al., 2016)

      sarcomere | adult stage | progressive, with LamCunspecified, Scer\GAL4Mhc.PW

      (Li et al., 2016)

      wing | progressive, with LamCunspecified, Scer\GAL4Mhc.PW

      (Li et al., 2016)

      Z disc | adult stage | progressive, with LamCunspecified, Scer\GAL4Mhc.PW

      (Li et al., 2016)
      Detailed Description
      Statement
      Reference

      The expression of LamCE174K.Scer\UAS under the control of Scer\GAL4Mhc.PW in LamCunspecified heterozygotes results in a range of defects in dorsal longitudinal indirect flight muscles: thinner myofibrils and sarcomere disorganization (with vanishing Z lines and A bands) at 21, but not at 4, days post eclosion; progressive mitochondrion defects, as shown by a significant decrease in the relative mitochondrial volume, sparser distribution, smaller and rounder morphology, collapsing or disintegrating cristae, and significant and progressive decrease of the electron density of mitochondria in electron miscroscopy images, at 14 and 21, but not at 3, days post eclosion; and a significant increase in cytoplasmic polyubiquitin aggregates at 14, but not 3, days post eclosion, as compared to controls. These individuals also exhibit a "wings-up" phenotype and flight defects, as shown by a significant decrease in landing height, at 21 but not at 4 days post eclosion, as compared to controls.

      The expression of LamCE174K.Scer\UAS under the control of Scer\GAL4BG487, in either LamCunspecified heterozygotes or LamCEX265/LamCEX296 homozygotes leads to 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

      The dorsal longitudinal indirect flight muscles of LamCunspecified heterozygotes expressing LamCE174K.Scer\UAS under the control of Scer\GAL4Mhc.PW exhibit both increased cytoplasmic polyubiquitin aggregates (at 14 days post eclosion) and mitochondrial defects (abnormal morphology, decreased mitochondrial volume and decreased electron density of mitochondria in electron microscopy images, at 14 and 21 days post eclosion, respectively), which are partially suppressed and not suppressed, respectively, by the co-expression of MarfScer\UAS.T:Ivir\HA1.

      The co-expression of LamCE174K.Scer\UAS and MarfScer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Mhc.PW results in dorsal longitudinal indirect flight muscles at 14 days post eclosion exhibiting mitochondria with decreased electron density in electron microscopy images, as compared to controls.

      (Li et al., 2016)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Fails to rescue

      Scer\GAL4Mhc.PW/LamCE174K.UAS fails to rescue LamCEX296/LamCEX265

      (Li et al., 2016)
      Comments

      The expression of LamCE174K.Scer\UAS under the control of Scer\GAL4Mhc.PW does not suppress the increased proportion of 'ghost' neuromuscular junctions observed in LamCEX265/LamCEX296 transheterozygous third instar larval muscles 6 and 7.

      (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
      LamCE174K.Scer\UAS
      LamCE174K.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)