FlyBase Allele Report: Hsap\ATXN1[30Q.UAS]

General Information

Symbol

Hsap\ATXN1^30Q.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0119475

Feature type

allele

Associated gene

Hsap\ATXN1

Associated Insertion(s)

Carried in Construct

P{UAS-Hsap\ATX1.30Q}

Also Known As

ATXN1(30Q)

Key Links

Transgenic product class

cDNA

(Fernandez-Funez et al., 2000)

wild_type

(Fernandez-Funez et al., 2000)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

cDNA

(Fernandez-Funez et al., 2000)

wild_type

(Fernandez-Funez et al., 2000)

Mutagen

in vitro construct

(Fernandez-Funez et al., 2000)

Progenitor genotype

Carried in construct

P{UAS-Hsap\ATX1.30Q}

Cytology

Description

A Hsap\ATXN1 cDNA containing 30 CAG repeats is driven by UASt sequences.

(Fernandez-Funez et al., 2000)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN1

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 autosomal dominant cerebellar ataxia

CEA

(Al-Ramahi et al., 2006, Fernandez-Funez et al., 2000)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of autosomal dominant cerebellar ataxia

is ameliorated by Hsap\STUB1^UAS.cAa

(Al-Ramahi et al., 2006)

is exacerbated by skd^L7062

(Fernandez-Funez et al., 2000)

is exacerbated by Ythdc1^EP3725

(Fernandez-Funez et al., 2000)

is exacerbated by eff⁸

(Fernandez-Funez et al., 2000)

is ameliorated by Nup44A^EP2417

(Fernandez-Funez et al., 2000)

is exacerbated by pum^EP3461

(Fernandez-Funez et al., 2000)

is exacerbated by eff^EP674

(Fernandez-Funez et al., 2000)

is exacerbated by tara^EP3463

(Fernandez-Funez et al., 2000)

is exacerbated by Sin3A^EP866

(Fernandez-Funez et al., 2000)

is ameliorated by DnaJ-1^EP411

(Fernandez-Funez et al., 2000)

is exacerbated by cpo^EP3378

(Fernandez-Funez et al., 2000)

is exacerbated by Tecr⁰⁵⁶³⁴

(Fernandez-Funez et al., 2000)

is exacerbated by lncRNA:Hsrω^neo55

(Fernandez-Funez et al., 2000)

is exacerbated by CtBP⁰³⁴⁶³

(Fernandez-Funez et al., 2000)

is exacerbated by Sirt1^EP2300

(Fernandez-Funez et al., 2000)

is exacerbated by HDAC1^EP3672

(Fernandez-Funez et al., 2000)

is ameliorated by mub^EP3623

(Fernandez-Funez et al., 2000)

is exacerbated by UbcE2H^EP1303

(Fernandez-Funez et al., 2000)

is ameliorated by GstE1^EP2231

(Fernandez-Funez et al., 2000)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

visible, with Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006)

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

(Lim et al., 2008)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Lim et al., 2008, Fernandez-Funez et al., 2000)

interommatidial bristle, with Scer\GAL4^GMR.PF

(Lim et al., 2008)

neuron, with Scer\GAL4^VNC.ap

(Fernandez-Funez et al., 2000)

ommatidium, with Scer\GAL4^GMR.PF

(Lim et al., 2008, Al-Ramahi et al., 2006)

retina, with Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006, Fernandez-Funez et al., 2000)

Detailed Description

Statement

Reference

Larval ddaE neurons expressing Hsap\ATXN1^30Q.UAS under the control of Scer\GAL4²²¹ do not show significant changes in growing microtubules within dendrites, as compared to neurons in controls.

(Chen et al., 2012)

Larvae expressing Hsap\ATXN1^30Q.Scer\UAS in class IV da neurons under the control of Scer\GAL4^ppk.PG do not exhibit any detectable dendritic abnormalities.

(Lee et al., 2011)

Flies expressing Hsap\ATXN1^30Q.Scer\UAS under the control of Scer\GAL4^GMR.PF at 25[o]C show mild ommatidial disorganisation and interommatidial bristle loss.

(Lim et al., 2008)

Flies expressing high levels of Hsap\ATX1^30Q.Scer\UAS under the control of Scer\GAL4^GMR.PF have a moderate external eye phenotype, with mild ommatidial disorganisation. These flies show a reduction in retinal depth.

(Al-Ramahi et al., 2006)

Expression of Hsap\ATX1^30Q.Scer\UAS when driven by Scer\GAL4^GMR.PF leads to degeneration of the retina. An increase in the temperature at which the flies are raised, or a doubling of the does, leads to a strengthening of the eye phenotype. Expression driven by Scer\GAL4^VNC.ap leads to very mild neuronal loss.

(Fernandez-Funez et al., 2000)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, non-enhanceable by Hsap\RBM17^UAS.cLa, Scer\GAL4^GMR.PF

(Lim et al., 2008)

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, non-enhanceable by Spf45^UAS.cLa, Scer\GAL4^GMR.PF

(Lim et al., 2008)

Suppressed by

Statement

Reference

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has visible phenotype, suppressible by Hsap\STUB1^UAS.cAa, Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by Hsap\RBM17^UAS.cLa, Scer\GAL4^GMR.PF

(Lim et al., 2008)

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has ommatidium phenotype, non-enhanceable by Hsap\RBM17^UAS.cLa, Scer\GAL4^GMR.PF

(Lim et al., 2008)

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has interommatidial bristle phenotype, non-enhanceable by Hsap\RBM17^UAS.cLa, Scer\GAL4^GMR.PF

(Lim et al., 2008)

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by Spf45^UAS.cLa, Scer\GAL4^GMR.PF

(Lim et al., 2008)

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has ommatidium phenotype, non-enhanceable by Spf45^UAS.cLa, Scer\GAL4^GMR.PF

(Lim et al., 2008)

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has interommatidial bristle phenotype, non-enhanceable by Spf45^UAS.cLa, Scer\GAL4^GMR.PF

(Lim et al., 2008)

Suppressed by

Statement

Reference

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has ommatidium phenotype, suppressible by Hsap\STUB1^UAS.cAa, Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006)

Hsap\ATXN1^30Q.UAS, Scer\GAL4^GMR.PF has retina phenotype, suppressible by Hsap\STUB1^UAS.cAa, Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\RBM17^Scer\UAS.cLa has little effect on the mild eye phenotype seen in flies expressing Hsap\ATXN1^30Q.Scer\UAS under the control of Scer\GAL4^GMR.PF at 25[o]C.

Expression of Spf45^Scer\UAS.cLa has little effect on the mild eye phenotype seen in flies expressing Hsap\ATXN1^30Q.Scer\UAS under the control of Scer\GAL4^GMR.PF at 25[o]C.

(Lim et al., 2008)

Co-expression of Hsap\STUB1^Scer\UAS.cAa suppresses the eye phenotype caused by expression of Hsap\ATX1^30Q.Scer\UAS under the control of Scer\GAL4^GMR.PF.

(Al-Ramahi et al., 2006)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

39739

y¹ w^*; P{GAL4-ninaE.GMR}12/CyO; P{UAS-Hsap\ATX1.30Q}F6

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Hsap\ATX1^30Q.Scer\UAS

Hsap\ATXN1^30Q.Scer\UAS

Hsap\ATXN1^30Q.UAS

Name Synonyms

Secondary FlyBase IDs

References (14)

Report Sections

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