FlyBase Allele Report: Hsap\ATXN3[fl.Q78.UAS.Tag:MYC]

General Information

Symbol

Hsap\ATXN3^{fl.Q78.UAS.Tag:MYC}

Species

H. sapiens

Name

FlyBase ID

FBal0323840

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-hATXN3.fl.Q78}

Key Links

Transgenic product class

trinucleotide_repeat_expansion

(Vinatier et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(Vinatier et al., 2015)

Mutagen

in vitro construct

(Vinatier et al., 2015)

Progenitor genotype

Carried in construct

P{UAS-hATXN3.fl.Q78}

Cytology

Description

UAS regulatory sequences drive expression of full-length Hsap\ATXN3 containing an expanded polyQ repeat of 78 residues. The protein is tagged at the N-terminal end with Tag:MYC.

(Vinatier et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN3

Tagged with

Tag:MYC

epitope tag

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

(Vinatier et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Machado-Joseph disease

is ameliorated by Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}

(Vinatier et al., 2015)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Vinatier et al., 2015, Warrick et al., 2005)

ATXN3:p.Gln296[78]

(FlyBase curators, 2019-)

Variants Synonym(s)

ATXN3:p.Gln296[78Gln]

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 eye color | progressive, with Scer\GAL4^GMR.PU

(Vinatier et al., 2015)

visible | adult stage | progressive, with Scer\GAL4^GMR.PU

(Vinatier et al., 2015)

Phenotype Manifest In

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

(Vinatier et al., 2015)

Detailed Description

Statement

Reference

The expression of Hsap\ATXN3^{fl.Q78.UAS.Tag:MYC} under the control of Scer\GAL4^GMR.PU leads to moderate toxicity in the eye, as judged by a moderate but progressive loss of eye pigmentation.

(Vinatier et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Hsap\ATXN3^{fl.Q78.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has visible | adult stage | progressive phenotype, non-enhanceable by puc^UAS.cMa, Scer\GAL4^GMR.PU

(Vinatier et al., 2015)

Hsap\ATXN3^{fl.Q78.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has visible | adult stage | progressive phenotype, non-enhanceable by Hsc70-4^UAS.cEa, Scer\GAL4^GMR.PU