Open Close
General Information
Symbol
Hsap\SOD1A4V.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0248885
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

Carries an A4V amino acid substitution in the Hsap\SOD1 coding region.

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 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

FlyBase curator comment: "amyotrophic lateral sclerosis type 1" is associated with human SOD1.

Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Flies overexpressing Hsap\SOD1A4V.Scer\UAS driven by Scer\GAL4D42 in motor neurons show a progressive loss of climbing ability around 28 days after eclosion.

Flies overexpressing Hsap\SOD1A4V.Scer\UAS driven by Scer\GAL4D42 show no detectable loss of neuronal nuclei over time.

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

Co-expression of Hsap\SOD1A4V.Scer\UAS enhances the toxicity of Scer\GAL4GMR.PU>Hsap\MAPTR406W.Scer\UAS in Drosophila compound eyes. The rough eye phenotype caused by Hsap\MAPTR406W.Scer\UAS-expression becomes more severe, and the ommatidia are more severely fused and irregular.

Co-expression of Hsap\SOD1A4V.Scer\UAS shortens the lifespan of files expressing Scer\GAL4elav.PU>Hsap\MAPTR406W.Scer\UAS and exacerbates their movement impairment.

Co-expression of Hsap\SOD1A4V.Scer\UAS exacerbates the brain damage caused by the expression of Scer\GAL4elav.PU>Hsap\MAPTR406W.Scer\UAS. The number of vacuoles is significantly increased in the double-transgenic flies compared with Hsap\MAPTR406W.Scer\UAS-expression alone.

Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
Hsap\SOD1A4V.Scer\UAS
Hsap\SOD1A4V.UAS
Name Synonyms
Secondary FlyBase IDs
    References (7)