FlyBase Allele Report: Hsap\ATXN3[tr.Q76.UAS.Tag:HA,Tag:MYC]

General Information

Symbol

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}

Species

H. sapiens

Name

FlyBase ID

FBal0345021

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

PBac{UAS-hATXN3.tr.Q76}

Key Links

Transgenic product class

inframe_deletion

(Kwon et al., 2018)

trinucleotide_repeat_expansion

(Kwon et al., 2018)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Kwon et al., 2018)

trinucleotide_repeat_expansion

(Kwon et al., 2018)

Mutagen

in vitro construct

(Kwon et al., 2018)

Progenitor genotype

Carried in construct

PBac{UAS-hATXN3.tr.Q76}

Cytology

Description

UAS regulatory sequences drive expression of a truncated form of Hsap\ATXN3, consisting of a Q repeat region of 76 residues (which contains both α-helical coiled-coil and β-sheet hairpin structures) flanked upstream by 14 amino acids and downstream by 43 amino acids. The protein is tagged at the N-terminal end with Tag:HA and at the C-terminal end with Tag:MYC.

(Kwon et al., 2018)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Tagged with

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

(Kwon et al., 2018)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Machado-Joseph disease

is ameliorated by DnaJ-1^UAS.cKa

(Kwon et al., 2018)

is ameliorated by foxo^{G.UAS.Tag:FLAG}

(Kwon et al., 2018)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Kwon et al., 2018)

ATXN3:p.Gln296[76]

(FlyBase curators, 2019-)

Variants Synonym(s)

ATXN3:p.Gln296[76Gln]

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

abnormal locomotor behavior | third instar larval stage, with Scer\GAL4^109(2)80

(Kwon et al., 2018)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^109(2)80

(Kwon et al., 2018)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^ppk.PU

(Kwon et al., 2018)

Phenotype Manifest In

actin cytoskeleton | third instar larval stage, with Scer\GAL4^109(2)80

(Kwon et al., 2018)

dendritic arborizing neuron | third instar larval stage, with Scer\GAL4^109(2)80

(Kwon et al., 2018)

larval multidendritic class IV neuron | third instar larval stage, with Scer\GAL4^ppk.PU

(Kwon et al., 2018)

Detailed Description

Statement

Reference

Expressing Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC} under the control of Scer\GAL4^ppk.PU results in severe reductions in the number of terminal dendrites and dendrite branch points of class IV dendritic arborizing neurons in third instar larvae compared to wild-type controls, while Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC} proteins accumulate in the nucleus.

Expressing Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC} under the control of Scer\GAL4^109(2)80 results in a severely disrupted actin cytoskeleton in distal dendrites of dendritic arborizing neurons in third instar larvae. Third instar larvae are significantly less motile and show more frequent head turning than wild-type controls.

Expressing Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC} under the control of Scer\GAL4²²¹ has no effect on dendrite morphology in class I dendritic arborizing neurons.

(Kwon et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}, Scer\GAL4^ppk.PU has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by foxo^UAS.cPa, Scer\GAL4^ppk.PU

(Kwon et al., 2018)

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}, Scer\GAL4^ppk.PU has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by DnaJ-1^UAS.cKa, Scer\GAL4^ppk.PU

(Kwon et al., 2018)

NOT suppressed by

Statement

Reference

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}, Scer\GAL4^109(2)80 has abnormal locomotor behavior | third instar larval stage phenotype, non-suppressible by foxo^UAS.cPa, Scer\GAL4^109(2)80

(Kwon et al., 2018)

Suppressor of

Statement

Reference

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}, Scer\GAL4²²¹ is a suppressor of abnormal neuroanatomy | third instar larval stage phenotype of Scer\GAL4²²¹, ct^UAS.cUa

(Kwon et al., 2018)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}, Scer\GAL4^ppk.PU has larval multidendritic class IV neuron | third instar larval stage phenotype, suppressible | partially by foxo^UAS.cPa, Scer\GAL4^ppk.PU

(Kwon et al., 2018)

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}, Scer\GAL4^ppk.PU has larval multidendritic class IV neuron | third instar larval stage phenotype, suppressible | partially by DnaJ-1^UAS.cKa, Scer\GAL4^ppk.PU

(Kwon et al., 2018)

Suppressor of

Statement

Reference

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}, Scer\GAL4²²¹ is a suppressor of larval multidendritic class I neuron | third instar larval stage phenotype of Scer\GAL4²²¹, ct^UAS.cUa

(Kwon et al., 2018)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

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 (1)

Reported As

Symbol Synonym

Hsap\ATXN3^{tr.Q76.UAS.Tag:HA,Tag:MYC}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

Open Close