FlyBase Allele Report: Hsap\ATXN3[tr.Q61.UAS.Tag:HA]

General Information

Symbol

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}

Species

H. sapiens

Name

FlyBase ID

FBal0190838

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-hATXN3.tr-Q61}

Also Known As

UAS-SCA3trQ61, UAS-MJDtrQ61

Key Links

Transgenic product class

inframe_deletion

(Chan et al., 2000)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Chan et al., 2000)

Mutagen

in vitro construct

(Gong and Golic, 2006, Chan et al., 2000)

Progenitor genotype

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

(Chan et al., 2000)

Carried in construct

P{UAS-hATXN3.tr-Q61}

Cytology

Description

The number of polyglutamines repeats is reduced to 61.

(Chan et al., 2000)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

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

(Bilen and Bonini, 2007)

model of neurodegenerative disease

CEA

(Bilen et al., 2006, Chan et al., 2000)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Machado-Joseph disease

is exacerbated by Kdm2^EP3093

(Bilen and Bonini, 2007)

model of neurodegenerative disease

is exacerbated by Dcr-1^Q1147X

(Bilen et al., 2006)

is exacerbated by mbl^B2-E1

(Li et al., 2008)

is exacerbated by mbl^UAS.cLa

(Li et al., 2008)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Chan et al., 2000)

ATXN3:p.Gln296[61]

(FlyBase curators, 2019-)

Variants Synonym(s)

ATXN3:p.Gln296[61Gln]

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

increased cell death, with Scer\GAL4^GMR.PF

(Bilen et al., 2006, Gong and Golic, 2006)

visible, with Scer\GAL4^GMR.PU

(Chan et al., 2000)

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

(Li et al., 2008)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Li et al., 2008, Bilen et al., 2006, Gong and Golic, 2006)

eye, with Scer\GAL4^GMR.PU

(Chan et al., 2000)

pigment cell, with Scer\GAL4^GMR.PF

(Gong and Golic, 2006)

retina, with Scer\GAL4^GMR.PF

(Li et al., 2008, Bilen et al., 2006)

Detailed Description

Statement

Reference

One day old flies expressing Hsap\ATXN3^{tr.Q61.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PF have a mild loss of pigmentation and slightly disrupted internal retinal morphology.

(Li et al., 2008)

One day old flies expressing Hsap\ATXN3^{tr.Q61.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PF show a mild loss of pigmentation and retinal structure.

(Bilen et al., 2006)

Expression of Hsap\MJD^Q61.Scer\UAS, under the control of Scer\GAL4^GMR.PF, causes cell death and pigment loss in the fly eye.

(Gong and Golic, 2006)

Expression of Hsap\ATXN3^{tr.Q61.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PU results in a mild eye degeneration phenotype.

(Chan et al., 2000)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has visible | adult stage phenotype, enhanceable by mbl^B2-E1/mbl[+]

(Li et al., 2008)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PU has abnormal neuroanatomy | adult stage phenotype, enhanceable by Kdm2^EP3093, Scer\GAL4^GMR.PU

(Bilen and Bonini, 2007)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has increased cell death phenotype, enhanceable by Dcr-1^Q1147X

(Bilen et al., 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has increased cell death phenotype, enhanceable by Df(3R)Hsp70B/Df(3R)Hsp70A

(Gong and Golic, 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has increased cell death phenotype, enhanceable by Hsp70Ba³⁰⁴/Df(3R)Hsp70A

(Gong and Golic, 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has increased cell death phenotype, enhanceable by Df(3R)Hsp70A

(Gong and Golic, 2006)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by mbl^B2-E1/mbl[+]

(Li et al., 2008)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has retina phenotype, enhanceable by mbl^B2-E1/mbl[+]

(Li et al., 2008)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by Kdm2^EP3093, Scer\GAL4^GMR.PU

(Bilen and Bonini, 2007)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Dcr-1^Q1147X

(Bilen et al., 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has retina phenotype, enhanceable by Dcr-1^Q1147X

(Bilen et al., 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Df(3R)Hsp70B/Df(3R)Hsp70A

(Gong and Golic, 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has pigment cell phenotype, enhanceable by Df(3R)Hsp70B/Df(3R)Hsp70A

(Gong and Golic, 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Hsp70Ba³⁰⁴/Df(3R)Hsp70A

(Gong and Golic, 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has pigment cell phenotype, enhanceable by Hsp70Ba³⁰⁴/Df(3R)Hsp70A

(Gong and Golic, 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Df(3R)Hsp70A

(Gong and Golic, 2006)

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}, Scer\GAL4^GMR.PF has pigment cell phenotype, enhanceable by Df(3R)Hsp70A

(Gong and Golic, 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

One copy of mbl^B2-E1 enhances the eye degeneration phenotype seen in one day old flies when Hsap\ATXN3^{tr.Q61.Scer\UAS.T:Ivir\HA1} is expressed in the developing eye under the control of Scer\GAL4^GMR.PF. Flies show severe external degeneration and collapse of the retina.

(Li et al., 2008)

Co-expression of Kdm2^EP3093 severely enhances pigment loss and internal retinal degeneration flies expressing Hsap\ATXN3^{tr.Q61.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PU.

(Bilen and Bonini, 2007)

Eye degeneration due to expression of Hsap\ATXN3^{tr.Q61.Scer\UAS.T:Ivir\HA1} in the eye (under the control of Scer\GAL4^GMR.PF) is enhanced in a Dcr-1^Q1147X background, resulting in a severely degenerated eye with complete loss of pigmentation.

(Bilen et al., 2006)

The cell death and pigment loss that occurs in the eyes of Scer\GAL4^GMR.PF>Hsap\MJD^Q61.Scer\UAS flies is enhanced in flies that have reduced Hsp70 copy number. The severity of the phenotype is proportional to the Hsp70 copy number, Df(3R)Hsp70A, Df(3R)Hsp70B, Scer\GAL4^GMR.PF>Hsap\MJD^Q61.Scer\UAS flies show the most severe phenotype, Df(3R)Hsp70A, Hsp70Ba³⁰⁴, Scer\GAL4^GMR.PF>Hsap\MJD^Q61.Scer\UAS flies show a slightly less enhanced phenotype and Df(3R)Hsp70A, Scer\GAL4^GMR.PF>Hsap\MJD^Q61.Scer\UAS flies show the mildest enhancement.

(Gong and Golic, 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 (4)

Reported As

Symbol Synonym

Hsap\ATXN3^Q61.Scer\UAS

Hsap\ATXN3^{tr.Q61.Scer\UAS.T:Ivir\HA1}

Hsap\ATXN3^{tr.Q61.UAS.Tag:HA}

Hsap\MJD^Q61.Scer\UAS

Name Synonyms

Secondary FlyBase IDs

References (8)

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