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

General Information

Symbol

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

Species

H. sapiens

Name

FlyBase ID

FBal0196337

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-hATXN3.fl-Q78.HA}

Also Known As

UAS-MJDFL-78Q

Key Links

Transgenic product class

trinucleotide_repeat_expansion

(Warrick et al., 2005)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(Warrick et al., 2005)

Mutagen

in vitro construct

(Warrick et al., 2005)

Progenitor genotype

Carried in construct

P{UAS-hATXN3.fl-Q78.HA}

Cytology

Description

UASt regulatory sequences drive expression of full-length Hsap\ATXN3 with a long polyQ repeat of Q78. The Hsap\ATXN3 sequence is tagged at the N-terminal end with Tag:HA.

(Warrick et al., 2005)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN3

Tagged with

Tag:HA

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

(Chung et al., 2017, Cushman-Nick et al., 2013, Lee et al., 2011)

model of autosomal dominant cerebellar ataxia

CEA

(Warrick et al., 2005)

CEC

(Boeddrich et al., 2006)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of autosomal dominant cerebellar ataxia

is ameliorated by Hsap\VCP^UAS.cBa

(Boeddrich et al., 2006)

model of Machado-Joseph disease

is ameliorated by Hsap\HSPA1L^UAS.cWa

(Cushman-Nick et al., 2013)

is exacerbated by Scer\HSP104^WT.UAS

(Cushman-Nick et al., 2013)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(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 neuroanatomy, with Scer\GAL4^GMR.PF

(Boeddrich et al., 2006)

abnormal neuroanatomy | larval stage, with Scer\GAL4^ppk.PG

(Lee et al., 2011)

visible, with Scer\GAL4^GMR.PF

(Warrick et al., 2005)

Phenotype Manifest In

eye photoreceptor cell, with Scer\GAL4^GMR.PF

(Boeddrich et al., 2006)

filamentous actin, with Scer\GAL4^ppk.PG

(Lee et al., 2011)

larval multidendritic class IV neuron | larval stage, with Scer\GAL4^ppk.PG

(Lee et al., 2011)

lobula columnar neuron LC14 | larval stage, with Scer\GAL4^ppk.PG

(Lee et al., 2011)

retina, with Scer\GAL4^GMR.PF

(Warrick et al., 2005)

Detailed Description

Statement

Reference

Larvae expressing Hsap\ATXN3^{fl.Q78.Scer\UAS.T:Ivir\HA1} in class IV da neurons under the control of Scer\GAL4^ppk.PG exhibit striking dendritic abnormalities compared to controls. Terminal dendritic branching is greatly reduced compared to controls, whereas the major dendrite branches are unaffected.

Expression of Hsap\ATXN3^{fl.Q78.Scer\UAS.T:Ivir\HA1} in dorsal cluster neurons under the control of Scer\GAL4^109(2)80 results in a reduction in F-actin structures in distal dendrites.

(Lee et al., 2011)

Expression of Hsap\MJD^{Q78.Scer\UAS.T:Ivir\HA1}, under the control of Scer\GAL4^GMR.PF, induces progressive degeneration of photoreceptors, coupled with the formation of protein aggregates in 2-day old flies.

(Boeddrich et al., 2006)

Expression of Hsap\MJD^{fl.Q78.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PF results in neural degeneration in the eye. Co-expression of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} dramatically improves the retinal structure in flies expressing Hsap\MJD^{fl.Q78.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PF.

(Warrick et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\ATXN3^{fl.Q78.UAS.Tag:HA} has abnormal neuroanatomy phenotype, suppressible by Hsap\VCP^UAS.cBa/Scer\GAL4^GMR.PF

(Boeddrich et al., 2006)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\ATXN3^{fl.Q78.UAS.Tag:HA} has eye photoreceptor cell phenotype, suppressible by Hsap\VCP^UAS.cBa/Scer\GAL4^GMR.PF

(Boeddrich et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Hsap\VCP^Scer\UAS.cBa with Hsap\MJD^{Q78.Scer\UAS.T:Ivir\HA1}, both under the control of Scer\GAL4^GMR.PF, leads to a suppression of the Hsap\MJD^{Q78.Scer\UAS.T:Ivir\HA1} photoreceptor degeneration phenotype in 2-day old flies.

(Boeddrich et al., 2006)

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^{fl.Q78.Scer\UAS.T:Ivir\HA1}

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

Hsap\MJD^{fl.Q78.Scer\UAS.T:Ivir\HA1}

Name Synonyms

Secondary FlyBase IDs

References (8)

Report Sections

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