FlyBase Allele Report: Hsap\ATXN3[Q65.UAS.Tag:NLS(Unk)]

General Information

Symbol

Hsap\ATXN3^{Q65.UAS.Tag:NLS(Unk)}

Species

H. sapiens

Name

FlyBase ID

FBal0156380

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-hATXN3.tr-Q65.nls}

Key Links

Transgenic product class

trinucleotide_repeat_expansion

(Gunawardena et al., 2003)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(Gunawardena et al., 2003)

Mutagen

in vitro construct

(Gunawardena et al., 2003)

Progenitor genotype

Carried in construct

P{UAS-hATXN3.tr-Q65.nls}

Cytology

Description

UAS sequences drive expression of a (65Q) polyQ construct with an added nuclear localisation signal.

(Gunawardena et al., 2003)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN3

Tagged with

Tag:NLS(Unk)

nuclear protein localization 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 ( 0 )

Disease

Evidence

References

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.

(Gunawardena et al., 2003)

ATXN3:p.Gln296[65]

(FlyBase curators, 2019-)

Variants Synonym(s)

ATXN3:p.Gln296[65Gln]

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

lethal - all die before end of pupal stage, with Scer\GAL4^179Y

(Gunawardena et al., 2003)

lethal - all die before end of pupal stage, with Scer\GAL4^Appl.G1a

(Gunawardena et al., 2003)

some die during pupal stage, with Scer\GAL4^179Y

(Gunawardena et al., 2003)

some die during pupal stage, with Scer\GAL4^Appl.G1a

(Gunawardena et al., 2003)

Phenotype Manifest In

larval segmental nerve, with Scer\GAL4^Appl.G1a

(Swinter et al., 2023)

mitochondrion | larval stage, with Scer\GAL4^Appl.G1a

(Swinter et al., 2023)

neuron, with Scer\GAL4^179Y

(Gunawardena et al., 2003)

neuron, with Scer\GAL4^Appl.G1a

(Gunawardena et al., 2003)

Detailed Description

Statement

Reference

When Hsap\MJD^{Q65.Scer\UAS.T:Zzzz\nls1} is driven by Scer\GAL4^Appl.G1a or Scer\GAL4^179Y neural apoptosis is seen, but organelle accumulations with larval axons are absent.

(Gunawardena et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

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

Hsap\ATXN3^{Q65.Scer\UAS.T:Uuuu\nls-Unk}

Hsap\ATXN3^{Q65.Scer\UAS.T:Zzzz\nls-KKKRKV}

Hsap\ATXN3^{Q65.Scer\UAS.T:Zzzz\nls1}

Hsap\ATXN3^{Q65.UAS.Tag:NLS(Unk)}

Hsap\MJD^{Q65.Scer\UAS.T:Zzzz\nls1}

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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