FlyBase Allele Report: Hsap\ATXN3[fl.Q27.UAS.Tag:MYC]

General Information

Symbol

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

Species

H. sapiens

Name

FlyBase ID

FBal0212628

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-hATXN3.fl-Q27.myc}

Also Known As

UAS-flMJD_CAG27

Key Links

Transgenic product class

wild_type

(Warrick et al., 2005)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Warrick et al., 2005)

Mutagen

in vitro construct

(Warrick et al., 2005)

Progenitor genotype

Carried in construct

P{UAS-hATXN3.fl-Q27.myc}

Cytology

Description

UASt regulatory sequences drive expression of full-length Hsap\ATXN3 with a normal length polyQ repeat of Q27. The Hsap\ATXN3 sequence is tagged at the N-terminal end with Tag:MYC.

(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: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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates Huntington's disease

modeled by Hsap\HTT^GMR.Q120

(Warrick et al., 2005)

ameliorates autosomal dominant cerebellar ataxia

modeled by Hsap\ATXN1^82.UAS

(Warrick et al., 2005)

DOES NOT ameliorate tauopathy

modeled by Hsap\MAPT^UAS.cWa

(Warrick et al., 2005)

ameliorates Machado-Joseph disease

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

(Vinatier et al., 2015)

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

(Vinatier et al., 2015)

ameliorates spinocerebellar ataxia type 7

modeled by Hsap\ATXN7^{102Q.T.UAS.Tag:NLS(SV40-largeT)}

(Vinatier et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Hsap\ATXN3^{fl.Q27.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^GMR.PU does not result in any obvious retinal degeneration phenotype.

(Zhang et al., 2016)

The expression of Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC} under the control of Scer\GAL4^GMR.PU does not induce any obvious sign of toxicity in the eye (eye colour and overall appearance).

(Vinatier et al., 2015)

Larvae expressing Hsap\ATXN3^{fl.Q27.Scer\UAS.T:Hsap\MYC} in class IV da neurons under the control of Scer\GAL4^ppk.PG do not exhibit any detectable dendritic abnormalities.

(Lee et al., 2011)

Expression of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^GMR.PF does not cause any detectable mutant anatomical phenotype in the eye. Flies expressing Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^GMR.PF have a normal robust phototaxis response.

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.

Co-expression of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} restores a normal phototaxis response in 4 day old flies expressing Hsap\MJD^{fl.Q84.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^GMR.PF.

Co-expression of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} restores the eye and retina phenotypes towards normal in flies expressing Hsap\MJD^{tr.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

Suppressor of

Statement

Reference

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PU is a suppressor | partially of visible | adult stage | progressive phenotype of Hsap\ATXN7^{102Q.T.UAS.Tag:NLS(SV40-largeT)}, Scer\GAL4^GMR.PU

(Vinatier et al., 2015)

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PU is a suppressor | partially of abnormal eye color | progressive phenotype of Hsap\ATXN7^{102Q.T.UAS.Tag:NLS(SV40-largeT)}, Scer\GAL4^GMR.PU

(Vinatier et al., 2015)

NOT Suppressor of

Statement

Reference

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PF is a non-suppressor of visible phenotype of Hsap\HSPA1L^K71E.UAS, Scer\GAL4^GMR.PF

(Warrick et al., 2005)

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PF is a non-suppressor of visible phenotype of Hsap\MAPT^UAS.cWa, Scer\GAL4^GMR.PF

(Warrick et al., 2005)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PU is a suppressor | partially of eye | progressive phenotype of Hsap\ATXN7^{102Q.T.UAS.Tag:NLS(SV40-largeT)}, Scer\GAL4^GMR.PU

(Vinatier et al., 2015)

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PF is a suppressor of eye phenotype of Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Scer\GAL4^GMR.PF

(Jung et al., 2009)

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PF is a suppressor of retina phenotype of Hsap\ATXN1^82.UAS, Scer\GAL4^GMR.PF

(Warrick et al., 2005)

Scer\GAL4^elav-C155/Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC} is a suppressor of retina phenotype of Hsap\HTT^GMR.Q120

(Warrick et al., 2005)

NOT Suppressor of

Statement

Reference

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PF is a non-suppressor of eye phenotype of Hsap\HSPA1L^K71E.UAS, Scer\GAL4^GMR.PF

(Warrick et al., 2005)

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}, Scer\GAL4^GMR.PF is a non-suppressor of eye phenotype of Hsap\MAPT^UAS.cWa, Scer\GAL4^GMR.PF

(Warrick et al., 2005)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Pros26^1.Scer\UAS suppresses the ability of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} to restore the eye and retina phenotypes towards normal in flies expressing Hsap\MJD^{tr.Q78.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PF, such that the triple mutant flies have a reduction in eye pigmentation, show collapse of the eye and loss of internal retinal tissue.

Co-expression of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^elav-C155 suppresses the retinal degeneration seen in 10 day old flies expressing Hsap\HD^GMR.Q120.

The retinal disruption seen in flies expressing Hsap\ATX1^82.Scer\UAS under the control of Scer\GAL4^GMR.PF is suppressed by co-expression of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC}.

Co-expression of Hsap\MJD^{fl.Q27.Scer\UAS.T:Hsap\MYC} does not suppress the mutant eye phenotype of flies expressing Hsap\MAPT^Scer\UAS.cWa under the control of Scer\GAL4^GMR.PF.

(Warrick et al., 2005)

Complementation and Rescue Data

Partially rescues

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}/Scer\GAL4^GMR.PU partially rescues Hsap\ATXN3^{fl.Q78.UAS.Tag:MYC}

(Vinatier et al., 2015)

Hsap\ATXN3^{fl.Q27.UAS.Tag:MYC}/Scer\GAL4^GMR.PU partially rescues Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}

(Vinatier et al., 2015)

Comments

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Mutant