FlyBase Allele Report: Hsap\ATXN3[fl.SCA3.UAS]

General Information

Symbol

Hsap\ATXN3^fl.SCA3.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0326969

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-hATXN3.fl.SCA3}

Also Known As

Ataxin-3(SCA3)-Intact, UAS-ataxin-3Q77

Key Links

Transgenic product class

trinucleotide_repeat_expansion

(Sutton et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(Sutton et al., 2017)

Mutagen

in vitro construct

(Sutton et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-hATXN3.fl.SCA3}

Cytology

Description

UAS regulatory sequences drive expression of a full-length, pathogenic form of Hsap\ATXN3 (has a polyglutamine repeat of 77-80 residues).

(Sutton et al., 2017)

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 Machado-Joseph disease

CEA

(Ashraf et al., 2020, Johnson et al., 2020, Ristic et al., 2018, Sutton et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Machado-Joseph disease

is ameliorated by Rad23^GD4245

(Sutton et al., 2017)

is exacerbated by Rad23^{UAS.Tag:polyHis}

(Sutton et al., 2017)

is ameliorated by TER94^GL00448

(Ristic et al., 2018)

is ameliorated by TER94^HMS00656

(Ristic et al., 2018)

is ameliorated by Hsc70-4^HMS00152

(Johnson et al., 2020)

is ameliorated by Hsc70-4^JF03136

(Johnson et al., 2020)

is ameliorated by Hsc70-4^GLV21049

(Johnson et al., 2020)

is exacerbated by CG31643^HMC04377

(Ashraf et al., 2020)

is exacerbated by CG31643^HMJ02237

(Ashraf et al., 2020)

is exacerbated by Dop1R1^HM04077

(Ashraf et al., 2020)

is exacerbated by Dop1R1^HMC02344

(Ashraf et al., 2020)

is exacerbated by Dop1R2^HMC02893

(Ashraf et al., 2020)

is exacerbated by Dop1R2^JF02043

(Ashraf et al., 2020)

is ameliorated by Eip63E^HM05111

(Ashraf et al., 2020)

is exacerbated by FER^HMS00249

(Ashraf et al., 2020)

is exacerbated by Kdm3^HMS00775

(Ashraf et al., 2020)

is exacerbated by Mi-2^GL00318

(Ashraf et al., 2020)

is exacerbated by Mi-2^HMC03329

(Ashraf et al., 2020)

is exacerbated by Mi-2^HMS00301

(Ashraf et al., 2020)

is exacerbated by Pdk^GL00009

(Ashraf et al., 2020)

is ameliorated by Pdk^JF03050

(Ashraf et al., 2020)

is exacerbated by Ppa^JF01315

(Ashraf et al., 2020)

is exacerbated by TkR99D^HMC03749

(Ashraf et al., 2020)

is exacerbated by TkR99D^JF02663

(Ashraf et al., 2020)

is ameliorated by stg1^HMS02325

(Ashraf et al., 2020)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Sutton et al., 2017)

ATXN3:p.Gln296[77_80]

(FlyBase curators, 2019-)

Variants Synonym(s)

ATXN3:p.Gln296[77_80Gln]

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

Phenotype Manifest In

eye | progressive, with Scer\GAL4^GMR.long

(Ristic et al., 2018)

Detailed Description

Statement

Reference

The expression of Hsap\ATXN3^fl.SCA3.UAS under the control of Scer\GAL4^sqh.PW induces pervasive death during late pharate adult stages, during eclosion from the pupal case, and shortly following eclosion. Scer\GAL4^elav.PU-driven expression induces a significant decrease in lifespan and a significant, age-dependent decline in climbing ability (observed in 1-4 weeks old adults), as compared to controls. Adulthood-only expression controlled by Scer\GAL4^{elav.Switch.PO} (and RU486 feeding) also induces a decrease in lifespan but does not induce any consistent change in climbing ability.

Scer\GAL4^GMR.long-driven expression leads to a severe, age-dependent disruption of the internal ommatidial array of the eye (1 to 4 weeks old adults).

(Ristic et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\ATXN3^fl.SCA3.UAS, Scer\GAL4^GMR.long has eye | progressive phenotype, suppressible | partially by TER94^HMS00656, Scer\GAL4^GMR.long

(Ristic et al., 2018)

Hsap\ATXN3^fl.SCA3.UAS, Scer\GAL4^GMR.long has eye | progressive phenotype, suppressible | partially by TER94^GL00448, Scer\GAL4^GMR.long

(Ristic et al., 2018)

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 (2)

Reported As

Symbol Synonym

Hsap\ATXN3^{fl.SCA3.Scer\UAS}

Hsap\ATXN3^fl.SCA3.UAS

Name Synonyms

Secondary FlyBase IDs

References (8)

Report Sections

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