FB2024_03 , released June 25, 2024
Allele: Hsap\SOD1G85R.UAS
Open Close
General Information
Symbol
Hsap\SOD1G85R.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0248886
Feature type
allele
Associated gene
Hsap\SOD1
Associated Insertion(s)
Carried in Construct
P{UAS-hSOD1.G85R}
Key Links
Transgenic product class
missense_variant
(Watson et al., 2008)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Watson et al., 2008)
Mutagen
in vitro construct
(Watson et al., 2008)
Progenitor genotype
P{UAS-hSOD1}
(Watson et al., 2008)
Carried in construct
P{UAS-hSOD1.G85R}
Cytology
Description

Carries a G85R amino acid substitution in the Hsap\SOD1 coding region.

(Watson et al., 2008)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\SOD1
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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 )
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Flybase curator comment: Amyotrophic lateral sclerosis subtype amyotrophic lateral sclerosis type 1 is associated with gene SOD1.

      (Zhang et al., 2019)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Watson et al., 2008)
      SOD1:p.Gly86Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SOD1:p.Gly85Arg
      Associated human disease model(s)
      External database links
      ClinVar: SOD1_14758
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Pioglitazone-treatment does not rescue the larval turning phenotype caused by the expression of Hsap\SOD1G85R.Scer\UAS in motor neurons under the control of Scer\GAL4D42.

      (Joardar et al., 2015)

      Flies overexpressing Hsap\SOD1G85R.Scer\UAS driven by Scer\GAL4D42 in motor neurons show a progressive loss of climbing ability starting at 21 days after eclosion.

      Flies overexpressing Hsap\SOD1G85R.Scer\UAS driven by Scer\GAL4D42 show no detectable loss of neuronal nuclei over time.

      No anatomical degeneration of the retina occur in flies overexpressing Hsap\SOD1G85R.Scer\UAS driven by Scer\GAL4GMR.PF.

      Synaptic transmission along the giant fibre motor pathway is abnormal in flies overexpressing Hsap\SOD1G85R.Scer\UAS driven by Scer\GAL4D42 in motor neurons.

      (Watson et al., 2008)
      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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      Hsap\SOD1G85R.Scer\UAS
      Hsap\SOD1G85R.UAS
      hSOD1G85R
      (Cacciottolo et al., 2019)
      Name Synonyms
      Secondary FlyBase IDs
        References (6)