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General Information
Symbol
Dmel\LamCG489V.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0282441
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
G489V
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G14571713T

Amino acid change:

G489V | LamC-PA; G489V | LamC-PB

Reported amino acid change:

G489V

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.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

UASt regulatory sequences drive expression of LamC containing the amino acid replacement G489V (this is equivalent to a G449V mutation in the human Hsap\LMNA gene).

Allele components
Product class / Tool use(s)
Encoded product / tool
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 )
Modifiers Based on Experimental Evidence ( 1 )
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

FlyBase curator comment: "dilated cardiomyopathy 1A" is associated with mutations in human LMNA.

Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
LMNA:p.Gly449Val
Variants Synonym(s)
LMNA:p.Gly337Val
LMNA:p.Gly368Val
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The expression of LamCG489V.UAS under the control of Scer\GAL4fln.IFM, or Scer\GAL4Act88F.PB leads to a severe and progressive decrease in flight ability, until individuals are unable to fly; expression under the control of Scer\GAL4EDTP-DJ694 leads to a milder decrease in flight ability; the Scer\GAL4fln.IFM-driven flight defects are also observed in a LamCEX296 heterozygous background.

Expressing LamCG489V.UAS under the control of Scer\GAL4Act88F.PB leads to structural defects in pupal indirect flight muscles, with shorter sarcomeres, and disrupted Z-discs and M-lines.

Adult indirect flight muscles expressing LamCG489V.UAS under the control of either Scer\GAL4fln.IFM or Scer\GAL4EDTP-DJ694 show myofibril disorganization, abnormal nuclear morphology, including nuclear envelope blebbing, and nuclear misalignment. The Scer\GAL4fln.IFM-driven expression also leads to shorter sarcomeres, with partial loss of Z-disc and M-lines, to severe mitochondrial dysmorphology including small and fragmented mitochondria, and to double membrane structures containing mitochondria and vacuoles, suggesting autophagic defects; adults show a nearly fully penetrant 'held-up wing' phenotype.

Expression of LamCG489V.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.

Third instar larvae expressing LamCG489V.Scer\UAS under the control of Scer\GAL4C57 show reduced mobility. Myonuclei appear aggregated in approximately 30% of body wall muscles.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
NOT suppressed by
Phenotype Manifest In
Enhanced by
Statement
Reference
Suppressed by
Statement
Reference
NOT suppressed by
Statement
Reference
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
LamCG489V.Scer\UAS
LamCG489V.UAS
Name Synonyms
Secondary FlyBase IDs
    References (5)