FB2024_02 , released April 23, 2024
Allele: Dmel\Sod1G85R
Open Close
General Information
Symbol
Dmel\Sod1G85R
Species
D. melanogaster
Name
FlyBase ID
FBal0343865
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dSod1G85R
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Progenitor genotype
Associated Insertion(s)
Cytology
Description

Amino acid replacement: G?R.

The equivalent mutation to the ALS-associated G85R mutation in Hsap\SOD1 has replaced the endogenous gene at the Sod1 locus. (Note names are based on the Hsap\SOD1 amino acid numbering system.) A LoxP "scar" of 72 nt remains. (Note that this allele also contains a natural A1013C polymorphism, which leads to the N98K missense mutation, according to the human amino acid numbering system.)

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

G11112665C

Reported nucleotide change:

G?C

Amino acid change:

G84R | Sod1-PA

Comment:

Analogous mutation in human SOD1 implicated in ALS; mutation introduced into fly gene by homologous recombination; site of nucleotide substitution in fly gene specified by author. G85 in human SOD1 aligns with G84 in Drosophila ortholog Sod1.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
SOD1:p.Gly86Arg
Variants Synonym(s)
SOD1:p.Gly85Arg
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Other
Statement
Reference
Phenotype Manifest In
NOT Enhanced by
Suppressed by
Statement
Reference
NOT suppressed by
NOT Enhancer of
Statement
Reference

Sod1G85R is a non-enhancer of mitochondrion | larval stage phenotype of Khc27

Sod1G85R is a non-enhancer of mitochondrion | larval stage phenotype of swDic-1

Sod1G85R is a non-enhancer of axon | larval stage phenotype of Dhc64C4-19

Sod1G85R is a non-enhancer of axon | larval stage phenotype of Khc27

Sod1G85R is a non-enhancer of axon | larval stage phenotype of swDic-1

Suppressor of
NOT Suppressor of
Statement
Reference

Sod1G85R is a non-suppressor of mitochondrion | larval stage phenotype of Khc27

Sod1G85R is a non-suppressor of mitochondrion | larval stage phenotype of Dhc64C4-19

Sod1G85R is a non-suppressor of axon | larval stage phenotype of Dhc64C4-19

Sod1G85R is a non-suppressor of axon | larval stage phenotype of Khc27

Sod1G85R is a non-suppressor of axon | larval stage phenotype of swDic-1

Sod1G85R is a non-suppressor of mitochondrion | larval stage phenotype of swDic-1

Other
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 (5)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (5)