FlyBase Allele Report: Hsap\ATXN1L[UAS.Tag:FLAG]

General Information

Symbol

Hsap\ATXN1L^UAS.Tag:FLAG

Species

H. sapiens

Name

FlyBase ID

FBal0189668

Feature type

allele

Associated gene

Hsap\ATXN1L

Associated Insertion(s)

Carried in Construct

P{UAS-Hsap\Boat.FLAG}

Key Links

Transgenic product class

wild_type

(Mizutani et al., 2005)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Mizutani et al., 2005)

Mutagen

in vitro construct

(Mizutani et al., 2005)

Progenitor genotype

Carried in construct

P{UAS-Hsap\Boat.FLAG}

Cytology

Description

UASt sequences drive expression of full-length Hsap\ATXN1L, tagged with Tag:FLAG.

(Mizutani et al., 2005)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN1L

Tagged with

Tag:FLAG

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

DOES NOT ameliorate autosomal dominant cerebellar ataxia

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

(Mizutani et al., 2005)

ameliorates autosomal dominant cerebellar ataxia

modeled by Hsap\ATXN1^82.UAS

(Mizutani et al., 2005)

DOES NOT ameliorate neurodegenerative disease

modeled by Zzzz\CAG^{127Q.UAS.Tag:HA}

(Mizutani et al., 2005)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

visible | adult stage, with Scer\GAL4^hh.PU

(Tong et al., 2011)

Phenotype Manifest In

posterior crossvein, with Scer\GAL4^hh.PU

(Tong et al., 2011)

wing blade, with Scer\GAL4^hh.PU

(Tong et al., 2011)

wing vein L5, with Scer\GAL4^hh.PU

(Tong et al., 2011)

Detailed Description

Statement

Reference

Ectopic expression of Hsap\ATXN1L^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^hh.PU results in wing vein defects ( thickening of longitudinal vein 5 and loss of the posterior crossvein) in the adult flies.

(Tong et al., 2011)

Expression of Hsap\Boat^{Scer\UAS.T:Zzzz\FLAG}, under the control of Scer\GAL4^GMR.PF, has no affect on eye morphology.

(Mizutani et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\ATXN1L^UAS.Tag:FLAG has visible | adult stage phenotype, suppressible by Su(H)[+]/Su(H)¹

(Tong et al., 2011)

Hsap\ATXN1L^UAS.Tag:FLAG has visible | adult stage phenotype, suppressible by Su(H)[+]/Su(H)^del47

(Tong et al., 2011)

Enhancer of

Statement

Reference

Scer\GAL4^hh.PU/Hsap\ATXN1L^UAS.Tag:FLAG is an enhancer of visible | adult stage phenotype of N¹

(Tong et al., 2011)

Other

Statement

Reference

Hsap\ATXN1L^UAS.Tag:FLAG, N¹, Scer\GAL4^hh.PU has partially lethal - majority die phenotype

(Tong et al., 2011)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\ATXN1L^UAS.Tag:FLAG has posterior crossvein phenotype, suppressible by Su(H)[+]/Su(H)^del47

(Tong et al., 2011)

Hsap\ATXN1L^UAS.Tag:FLAG has wing blade phenotype, suppressible by Su(H)[+]/Su(H)¹

(Tong et al., 2011)

Hsap\ATXN1L^UAS.Tag:FLAG has wing vein L5 phenotype, suppressible by Su(H)[+]/Su(H)¹

(Tong et al., 2011)

Hsap\ATXN1L^UAS.Tag:FLAG has posterior crossvein phenotype, suppressible by Su(H)[+]/Su(H)¹

(Tong et al., 2011)

Hsap\ATXN1L^UAS.Tag:FLAG has wing blade phenotype, suppressible by Su(H)[+]/Su(H)^del47

(Tong et al., 2011)

Hsap\ATXN1L^UAS.Tag:FLAG has wing vein L5 phenotype, suppressible by Su(H)[+]/Su(H)^del47

(Tong et al., 2011)

Enhancer of

Statement

Reference

Scer\GAL4^hh.PU/Hsap\ATXN1L^UAS.Tag:FLAG is an enhancer of wing blade phenotype of N¹

(Tong et al., 2011)

Scer\GAL4^hh.PU/Hsap\ATXN1L^UAS.Tag:FLAG is an enhancer of wing vein L5 phenotype of N¹

(Tong et al., 2011)

Suppressor of

Statement

Reference

Hsap\ATXN1L^UAS.Tag:FLAG, Scer\GAL4^GMR.PF is a suppressor of eye phenotype of Hsap\ATXN1^82.UAS, Scer\GAL4^GMR.PF

(Mizutani et al., 2005)

Hsap\ATXN1L^UAS.Tag:FLAG, Scer\GAL4^GMR.PF is a suppressor of interommatidial bristle phenotype of Hsap\ATXN1^82.UAS, Scer\GAL4^GMR.PF

(Mizutani et al., 2005)

Hsap\ATXN1L^UAS.Tag:FLAG/Scer\GAL4^GMR.PF is a suppressor of pigment cell phenotype of Hsap\ATXN1^82.UAS

(Mizutani et al., 2005)

NOT Suppressor of

Statement

Reference

Hsap\ATXN1L^UAS.Tag:FLAG, Scer\GAL4^GMR.PF is a non-suppressor of eye phenotype of Scer\GAL4^GMR.PF, Zzzz\CAG^{127Q.UAS.Tag:HA}

(Mizutani et al., 2005)

Hsap\ATXN1L^UAS.Tag:FLAG, Scer\GAL4^GMR.PF is a non-suppressor of eye phenotype of Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Scer\GAL4^GMR.PF

(Mizutani et al., 2005)

Other

Statement

Reference

Hsap\ATXN1^82.UAS, Hsap\ATXN1L^UAS.Tag:FLAG, Scer\GAL4^GMR.PF has interommatidial bristle phenotype

(Mizutani et al., 2005)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

N¹/+ females ectopically expressing Hsap\ATXN1L^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^hh.PU rarely survive to adult stage (less than 10%) and the survivors display severe wing defects including a further thickening of the vein L5 compared to N¹/+ controls.

Df(1)N-8/+ females ectopically expressing Hsap\ATXN1L^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^hh.PU rarely survive to adult stage (less than 10%) and the survivors display severe wing defects including a further thickening of the vein L5 compared to Df(1)N-8/+ controls.

The wing vein L5 thickening characteristic for adult females expressing Hsap\ATXN1L^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^hh.PU can be suppressed by combination with Su(H)¹/+ or Su(H)^del47/+, while the loss of posterior crossvein is only partially restored.

(Tong et al., 2011)

Expression of two copies of the Hsap\Boat^{Scer\UAS.T:Zzzz\FLAG} transgene, under the control of Scer\GAL4^GMR.PF, suppresses the Scer\GAL4^GMR.PF>Hsap\ATX1^82.Scer\UAS-induced eye phenotype. These flies show a restoration of bristle formation, pigmentation, and overall eye structure. However, there is also a gain-of-function phenotype, with rescued eyes showing thicker and longer bristles. The eye phenotypes caused by expressing Hsap\MJD^{Q78.Scer\UAS.T:Ivir\HA1} or Zzzz\CAG^{127Q.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PF, are not suppressed by coexpression of Hsap\Boat^{Scer\UAS.T:Zzzz\FLAG}.

(Mizutani et al., 2005)

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\ATXN1L^{Scer\UAS.T:Zzzz\FLAG}

Hsap\ATXN1L^UAS.Tag:FLAG

Hsap\Boat^{Scer\UAS.T:Zzzz\FLAG}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

Open Close