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General Information
Symbol
Dmel\LamCA177P.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0348116
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G14572720C

Reported nucleotide change:

GCC>CCC

Amino acid change:

A177P | LamC-PA; A177P | LamC-PB

Reported amino acid change:

A177P

Comment:

Analogous L162P mutation in human LMNA implicated in dilated cardiomyopathy 1A; mutation carried on in vitro construct.

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 A177P (this is equivalent to a L162P 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 ( 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.
LMNA:p.Leu162Pro
Variants Synonym(s)
LMNA:p.Leu50Pro
LMNA:p.Leu81Pro
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The expression of LamCA177P.UAS under the control of Scer\GAL4fln.IFM, Scer\GAL4Act88F.PB or Scer\GAL4EDTP-DJ694 leads to a mild but progressive decrease in flight ability; the Scer\GAL4fln.IFM-driven flight defects are also observed in a LamCEX296 heterozygous background.

Adult indirect flight muscles expressing LamCA177P.UAS under the control of either Scer\GAL4fln.IFM or Scer\GAL4EDTP-DJ694 show abnormal nuclear morphology, including nuclear envelope blebbing. The Scer\GAL4fln.IFM-driven expression also leads to fragmented mitochondria.

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 (1)
Reported As
Symbol Synonym
LamCA177P.UAS
Name Synonyms
Secondary FlyBase IDs
    References (2)