FlyBase Allele Report: Hsap\HTT[Q200.FL.UAS]

General Information

Symbol

Hsap\HTT^Q200.FL.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0323497

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{UAS-hHTT.FL.Q200}

Key Links

Transgenic product class

trinucleotide_repeat_expansion

(El-Daher et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(El-Daher et al., 2015)

Mutagen

in vitro construct

(Botas, 2016.11.17, El-Daher et al., 2015)

Progenitor genotype

Carried in construct

P{UAS-hHTT.FL.Q200}

Cytology

Description

UAS regulatory sequences drive expression of a full-length Hsap\HTT containing an expanded 200 polyglutamine repeat.

(El-Daher et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\HTT

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 Huntington's disease

CEA

(Greco et al., 2022, Onur et al., 2021, Al-Ramahi et al., 2017, Yao et al., 2015)

CEA with TEV\NIa^TEVp.UAS.cHa

(El-Daher et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Huntington's disease

is ameliorated by DopEcR^KK111211

(Yao et al., 2015)

is ameliorated by PIP4K²⁹

(Al-Ramahi et al., 2017)

is ameliorated by PIP4K^RNAi.UAS.cUa

(Al-Ramahi et al., 2017)

is ameliorated by CRMP^GD4716

(Greco et al., 2022)

is ameliorated by Cont^GD12610

(Greco et al., 2022)

is ameliorated by GluRIA^GD3582

(Greco et al., 2022)

is exacerbated by Rop^RNAi.UAS.cUa

(Greco et al., 2022)

is exacerbated by SERCA^KK107371

(Greco et al., 2022)

is exacerbated by Vha36-3^KK112552

(Greco et al., 2022)

is ameliorated by Vha68-3^GD11527

(Greco et al., 2022)

is exacerbated by VhaAC39-1^GD9859

(Greco et al., 2022)

is ameliorated by arm⁸

(Greco et al., 2022)

is exacerbated by arm^UAS.Exel

(Greco et al., 2022)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Yao et al., 2015)

HTT:p.Gln18[200]

(FlyBase curators, 2019-)

Variants Synonym(s)

HTT:p.Gln18[200Gln]

HTT, (CAG)n REPEAT EXPANSION

Associated human disease model(s)

Huntington disease

External database links

ClinVar: HTT_409

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage | progressive, with Scer\GAL4^elav-C155

(Yao et al., 2015)

decreased rate of adult locomotory behavior, with Scer\GAL4^elav.PU

(El-Daher et al., 2015)

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Hsap\HTT^{NT.128Q.Scer\UAS} under the control of Scer\GAL4^elav-C155 induces rapid age-progressive decline of locomotor abilities of adult flies.

(Yao et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\HTT^Q200.FL.UAS, Scer\GAL4^elav-C155 has abnormal locomotor behavior | adult stage | progressive phenotype, suppressible | partially by DopEcR^KK111211, Scer\GAL4^elav-C155

(Yao et al., 2015)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The accelerated age-progressive decline of locomotor ability of adult flies expressing Hsap\HTT^{200Q.Scer\UAS} under the control of Scer\GAL4^elav-C155 is strongly improved by co-expression of DopEcR^KK111211.

(Yao et al., 2015)

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\HTT^{200Q.Scer\UAS}

Hsap\HTT^200Q.UAS

Hsap\HTT^Q200.FL.UAS

Name Synonyms

Secondary FlyBase IDs

References (7)

Report Sections

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