FlyBase Allele Report: Hsap\ATXN1[2Q.UAS]

General Information

Symbol

Hsap\ATXN1^2Q.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0197898

Feature type

allele

Associated gene

Hsap\ATXN1

Associated Insertion(s)

Carried in Construct

P{UAS-SCA1.2Q}

Key Links

Transgenic product class

short_tandem_repeat_contraction

(Al-Ramahi et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

short_tandem_repeat_contraction

(Al-Ramahi et al., 2006)

Mutagen

in vitro construct

(Al-Ramahi et al., 2006)

Progenitor genotype

Carried in construct

P{UAS-SCA1.2Q}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\ATXN1 with only two glutamines in the N-terminal glutamine repeat.

(Al-Ramahi et al., 2006)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

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)

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)

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)

Phenotype Manifest In

interommatidial bristle, with Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006)

ommatidium, with Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006)

Detailed Description

Statement

Reference

Flies expressing high levels of Hsap\ATX1^2Q.Scer\UAS under the control of Scer\GAL4^GMR.PF have eyes with severe ommatidial and bristle disorganisation defects.

(Al-Ramahi et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\ATXN1^2Q.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

Suppressed by

Statement

Reference

Hsap\ATXN1^2Q.UAS, Scer\GAL4^GMR.PF has ommatidium phenotype, suppressible by Hsap\STUB1^UAS.cAa, Scer\GAL4^GMR.PF

(Al-Ramahi et al., 2006)

Hsap\ATXN1^2Q.UAS, Scer\GAL4^GMR.PF has interommatidial bristle 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

Co-expression of Hsap\STUB1^Scer\UAS.cAa suppresses the eye phenotype caused by expression of Hsap\ATX1^2Q.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 (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Hsap\ATX1^2Q.Scer\UAS

Hsap\ATXN1^2Q.Scer\UAS

Hsap\ATXN1^2Q.UAS

SCA1^2Q

(Al-Ramahi et al., 2006)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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