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General Information
Symbol
Dmel\LamCV528P.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0282443
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
V528P
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Reported amino acid change:
V528P
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 V528P (this is equivalent to a L489P 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 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference
The expression of LamCV528P.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 mild decrease in flight ability. Adult indirect flight muscles expressing LamCV528P.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 a nearly fully penetrant 'held-up wing' phenotype.
Expression of LamCV528P.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 LamCV528P.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
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
LamCV528P.Scer\UAS
LamCV528P.UAS
Name Synonyms
Secondary FlyBase IDs
    References (3)