FlyBase Allele Report: Hsap\SOD1[A4V.UAS]

General Information

Symbol

Hsap\SOD1^A4V.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0248885

Feature type

allele

Associated gene

Hsap\SOD1

Associated Insertion(s)

Carried in Construct

P{UAS-hSOD1.A4V}

Also Known As

SOD1^A4V

Key Links

Transgenic product class

missense_variant

(Watson et al., 2008)

Mutagen

in vitro construct

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.A4V}

Cytology

Description

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

(Watson et al., 2008)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

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 )

Disease

Evidence

References

model of amyotrophic lateral sclerosis

CEA

(Watson et al., 2008)

model of amyotrophic lateral sclerosis type 1

CEA

(Zhang et al., 2020)

CEC

(Lu et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates tauopathy

modeled by Hsap\MAPT^R406W.UAS

(Huang et al., 2015)

model of amyotrophic lateral sclerosis type 1

is exacerbated by Set8^GD10930

(Lu et al., 2019)

is ameliorated by l(3)mbt^HMS01466

(Lu et al., 2019)

is exacerbated by p53^GL01220

(Lu et al., 2019)

model of amyotrophic lateral sclerosis type 10

is exacerbated by Smox^JF02320

(Zhang et al., 2020)

is ameliorated by Usp7^HMS01187

(Zhang et al., 2020)

is exacerbated by babo^HMS02033

(Zhang et al., 2020)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

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

(Lu et al., 2019)

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Watson et al., 2008)

SOD1:p.Ala5Val

(FlyBase curators, 2019-)

Variants Synonym(s)

SOD1:p.Ala4Val

Associated human disease model(s)

amyotrophic lateral sclerosis 1

External database links

ClinVar: SOD1_14763

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior, with Scer\GAL4^Toll-6-D42

(Watson et al., 2008)

abnormal locomotor behavior | adult stage, with Scer\GAL4^Toll-6-D42

(Zhang et al., 2020)

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Hsap\SOD1^A4V.UAS under the control of Scer\GAL4^Toll-6-D42 leads to climbing defects in adults.

(Zhang et al., 2020)

Flies overexpressing Hsap\SOD1^A4V.Scer\UAS driven by Scer\GAL4^D42 in motor neurons show a progressive loss of climbing ability around 28 days after eclosion.

Flies overexpressing Hsap\SOD1^A4V.Scer\UAS driven by Scer\GAL4^D42 show no detectable loss of neuronal nuclei over time.

(Watson et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\SOD1^A4V.UAS, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, enhanceable by babo^HMS02033, Scer\GAL4^Toll-6-D42

(Zhang et al., 2020)

Hsap\SOD1^A4V.UAS, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, enhanceable by Smox^JF02320, Scer\GAL4^Toll-6-D42

(Zhang et al., 2020)

Hsap\SOD1^A4V.UAS, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, enhanceable by babo^GD51, Scer\GAL4^Toll-6-D42

(Zhang et al., 2020)

Hsap\SOD1^A4V.UAS, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, enhanceable by Smox^HMS02203, Scer\GAL4^Toll-6-D42

(Zhang et al., 2020)

Suppressed by

Statement

Reference

Hsap\SOD1^A4V.UAS, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, suppressible by Usp7^HMS01187, Scer\GAL4^Toll-6-D42

(Zhang et al., 2020)

Hsap\SOD1^A4V.UAS, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, suppressible by Usp7^Δ1/Usp7[+]

(Zhang et al., 2020)

Enhancer of

Statement

Reference

Hsap\SOD1^A4V.UAS, Scer\GAL4^GMR.PU is an enhancer of visible phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^GMR.PU

(Huang et al., 2015)

Hsap\SOD1^A4V.UAS, Scer\GAL4^elav.PU is an enhancer of abnormal locomotor behavior phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^elav.PU

(Huang et al., 2015)

Hsap\SOD1^A4V.UAS, Scer\GAL4^elav.PU is an enhancer of abnormal neuroanatomy phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^elav.PU

(Huang et al., 2015)

Other

Statement

Reference

Hsap\MAPT^R406W.UAS, Hsap\SOD1^A4V.UAS, Scer\GAL4^elav.PU has short lived phenotype

(Huang et al., 2015)

Phenotype Manifest In

Enhancer of

Statement

Reference

Hsap\SOD1^A4V.UAS, Scer\GAL4^GMR.PU is an enhancer of ommatidium phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^GMR.PU

(Huang et al., 2015)

Hsap\SOD1^A4V.UAS, Scer\GAL4^elav.PU is an enhancer of brain phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^elav.PU

(Huang et al., 2015)

Hsap\SOD1^A4V.UAS, Scer\GAL4^elav.PU is an enhancer of neuron phenotype of Hsap\MAPT^R406W.UAS, Scer\GAL4^elav.PU

(Huang et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Hsap\SOD1^A4V.Scer\UAS enhances the toxicity of Scer\GAL4^GMR.PU>Hsap\MAPT^{R406W.Scer\UAS} in Drosophila compound eyes. The rough eye phenotype caused by Hsap\MAPT^{R406W.Scer\UAS}-expression becomes more severe, and the ommatidia are more severely fused and irregular.

Co-expression of Hsap\SOD1^A4V.Scer\UAS shortens the lifespan of files expressing Scer\GAL4^elav.PU>Hsap\MAPT^{R406W.Scer\UAS} and exacerbates their movement impairment.

Co-expression of Hsap\SOD1^A4V.Scer\UAS exacerbates the brain damage caused by the expression of Scer\GAL4^elav.PU>Hsap\MAPT^{R406W.Scer\UAS}. The number of vacuoles is significantly increased in the double-transgenic flies compared with Hsap\MAPT^{R406W.Scer\UAS}-expression alone.

(Huang et al., 2015)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

33607

w¹¹¹⁸; P{UAS-hSOD1.A4V}9.1/TM6B, Tb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

Hsap\SOD1^A4V.Scer\UAS

Hsap\SOD1^A4V.UAS

SOD1^A4V

(Zhang et al., 2020)

hSOD1 mutant

(Dubal et al., 2022)

hSOD1^A4V

(Cacciottolo et al., 2019)

Name Synonyms

Secondary FlyBase IDs

References (9)

Report Sections

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