FlyBase Allele Report: Hsap\ATXN3[70Q.UAS]

General Information

Symbol

Hsap\ATXN3^70Q.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0290440

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-Atxn3.70Q}

Also Known As

UAS-Atxn3-70Q

Key Links

Transgenic product class

trinucleotide_repeat_expansion

(Reinhardt et al., 2012)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(Reinhardt et al., 2012)

Mutagen

in vitro construct

(Reinhardt et al., 2012)

Progenitor genotype

Carried in construct

P{UAS-Atxn3.70Q}

Cytology

Description

UAS regulatory sequences drive expression of full-length Hsap\ATXN3, with an expanded glutamine repeat containing 70 glutamine residues.

(Reinhardt et al., 2012)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN3

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 autosomal dominant cerebellar ataxia

CEA

(Reinhardt et al., 2012)

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.

(Reinhardt et al., 2012)

ATXN3:p.Gln296[70]

(FlyBase curators, 2019-)

Variants Synonym(s)

ATXN3:p.Gln296[70Gln]

ATXN3, (CAG)n REPEAT EXPANSION

Associated human disease model(s)

Machado-Joseph disease (SCA3)

External database links

ClinVar: ATXN3_209995

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage, with Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

abnormal locomotor behavior | adult stage | progressive | RU486 conditional, with Scer\GAL4^{elav.Switch.PO}

(Reinhardt et al., 2012)

short lived, with Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

short lived | RU486 conditional, with Scer\GAL4^{elav.Switch.PO}

(Reinhardt et al., 2012)

Phenotype Manifest In

Detailed Description

Statement

Reference

Adulthood-only expression of Hsap\ATXN3^70Q.UAS under the control of Scer\GAL4^{elav.Switch.PO} and RU-486 treatment leads to a significant decrease in life-span and in adult locomotion capacity, as compared to controls.

(Sowa et al., 2018)

Expression of Hsap\ATXN3^70Q.Scer\UAS under the control of Scer\GAL4^{elav.Switch.PO} during the adult stage (using RU486) results in a reduction in mean lifespan compared to controls. The flies also show a progressive decline in climbing ability.

(Reinhardt et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has short lived phenotype, enhanceable by emb^JF01311, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

NOT Enhanced by

Statement

Reference

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has abnormal locomotor behavior | adult stage phenotype, non-enhanceable by cdm^GS17666, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has short lived phenotype, non-enhanceable by cdm^JF01428, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has abnormal locomotor behavior | adult stage phenotype, non-enhanceable by emb^JF01311, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has short lived phenotype, non-enhanceable by Kap-α3^UASp.cMa, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has abnormal locomotor behavior | adult stage phenotype, non-enhanceable by Kap-α3^UASp.cMa, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Suppressed by

Statement

Reference

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has short lived phenotype, suppressible by emb^EY08770, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has short lived phenotype, suppressible by Kap-α3^JF02686, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has short lived phenotype, suppressible by Kap-α3^KK101268, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has abnormal locomotor behavior | adult stage phenotype, suppressible by emb^EY08770, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has abnormal locomotor behavior | adult stage phenotype, suppressible by Kap-α3^JF02686, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

NOT suppressed by

Statement

Reference

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has short lived phenotype, non-suppressible by cdm^GS17666, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Hsap\ATXN3^70Q.UAS, Scer\GAL4^{elav.Switch.PO} has abnormal locomotor behavior | adult stage phenotype, non-suppressible by cdm^JF01428, Scer\GAL4^{elav.Switch.PO}

(Sowa et al., 2018)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The decreased lifespan induced by the adulthood-only expression of Hsap\ATXN3^70Q.UAS under the control of Scer\GAL4^{elav.Switch.PO} and RU-486 treatment is exacerbated by the co-expression of emb^JF01311 and is partially suppressed by the co-expression of emb^EY08770, Kap-α3^JF02686 or Kap-α3^KK101268, but is not significantly affected by the co-expression of cdm^GS17666, cdm^JF01428 or Kap-α3^UASp.cMa. The decreased adult locomotion also induced by the adulthood-only expression under the control of Scer\GAL4^{elav.Switch.PO} and RU-486 treatment is fully suppressed by the co-expression of Kap-α3^JF02686, moderately co-expressed by the co-expression of emb^EY08770, but is not significantly affected by the co-expression of cdm^JF01428, cdm^GS17666, emb^JF01311, Kap-α3^UASp.cMa.

(Sowa et al., 2018)

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 (3)

Reported As

Symbol Synonym

Hsap\ATXN3^70Q.Scer\UAS

Hsap\ATXN3^70Q.UAS

UAS-ataxin-3-Q70

(Sowa et al., 2018)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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