FlyBase Allele Report: Hsap\ATXN3[80Q.C14mut.UbS1mut.UAS]

General Information

Symbol

Hsap\ATXN3^{80Q.C14mut.UbS1mut.UAS}

Species

H. sapiens

Name

FlyBase ID

FBal0388083

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-hATXN3.80Q.C14mut.UbS1mut}

Key Links

Transgenic product class

missense_variant

(Prifti et al., 2022)

short_tandem_repeat_expansion

(Prifti et al., 2022)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Prifti et al., 2022)

short_tandem_repeat_expansion

(Prifti et al., 2022)

Mutagen

in vitro construct

(Prifti et al., 2022)

Progenitor genotype

Carried in construct

P{UAS-hATXN3.80Q.C14mut.UbS1mut}

Cytology

Description

UAS regulatory sequences drive expression of a cDNA that encodes the Hsap\ATXN3 dominant isoform containing 3 ubiquitin-interacting motifs, which has been engineered to encode an expanded polyglutamine (polyQ) repeat of 80 residues (the polyQ repeats are encoded by CAGCAA repeats, rather than a pure CAG tract). Contains a mutation in ubiquitin-binding site 1 (UbS1) and a mutated cysteine at position 14 to render Hsap\ATXN3 catalytically inactive.

(Prifti et al., 2022)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\ATXN3

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

short lived, with Scer\GAL4^{elav.Switch.PO}

(Prifti et al., 2022)

some die during larval stage, with Scer\GAL4^elav.PU

(Prifti et al., 2022)

some die during P-stage, with Scer\GAL4^elav.PU

(Prifti et al., 2022)

some die during second instar larval stage, with Scer\GAL4^sqh.PU

(Prifti et al., 2022)

some die during third instar larval stage, with Scer\GAL4^sqh.PU

(Prifti et al., 2022)

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

(Prifti et al., 2022)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.long

(Prifti et al., 2022)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

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^{80Q.C14mut.UbS1mut.UAS}

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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