FlyBase Allele Report: Hsap\HTT[Q97.ex1.UAS]

General Information

Symbol

Hsap\HTT^Q97.ex1.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0156388

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{UAS-HTT.ex1.Q97}

Key Links

Transgenic product class

inframe_deletion

(Steffan et al., 2004)

trinucleotide_repeat_expansion

(Steffan et al., 2004)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Steffan et al., 2004)

trinucleotide_repeat_expansion

(Steffan et al., 2004)

Mutagen

in vitro construct

(Steffan et al., 2004)

Progenitor genotype

Carried in construct

P{UAS-HTT.ex1.Q97}

Cytology

Description

UAS regulatory sequences drive expression of exon 1 of Hsap\HTT which contains an expanded polyglutamine repeat of 97 residues.

(Steffan et al., 2004)

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

(Huelsmeier et al., 2021, Saitoh et al., 2015, Steffan et al., 2004)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Huntington's disease

is exacerbated by ref(2)P^RNAi.UAS.cUa

(Saitoh et al., 2015)

is ameliorated by Atx2^{KI.ΔcIDR-GFP}

(Huelsmeier et al., 2021)

is exacerbated by Tbp^sI10

(Hsu et al., 2014)

is exacerbated by Tbp^UAS.cHa

(Hsu et al., 2014)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Steffan et al., 2004)

HTT:p.Gln18[97]

(FlyBase curators, 2019-)

Variants Synonym(s)

HTT:p.Gln18[97Gln]

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

visible, with Scer\GAL4^GMR.PU

(Steffan et al., 2004)

Phenotype Manifest In

eye, with Scer\GAL4^elav-C155

(Steffan et al., 2004)

eye, with Scer\GAL4^GMR.PU

(Steffan et al., 2004)

ommatidium, with Scer\GAL4^GMR.PU

(Hsu et al., 2014)

photoreceptor, with Scer\GAL4^elav-C155

(Steffan et al., 2004)

photoreceptor, with Scer\GAL4^GMR.PU

(Hsu et al., 2014)

Detailed Description

Statement

Reference

The eyes of 7-week old flies expressing Hsap\HTT^{97QP.Scer\UAS} under the control of Scer\GAL4^GMR.PU exhibit little depigmentation, but the internal ommatidial structure is completely disrupted and photoreceptors are substantially reduced. Protein aggregation is observed.

(Hsu et al., 2014)

When expression is driven by Scer\GAL4^elav-C155 number of photoreceptors per ommatidium are reduced. When expression is driven by Scer\GAL4^GMR.PF eyes are roughened. Necrotic lesions indicate cytotoxicity of Hsap\HD^{97QP.Scer\UAS} protein.

(Steffan et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Other

Statement

Reference

Hsap\HTT^Q97.ex1.UAS, Scer\GAL4^GMR.PU, Tbp^UAS.cHa has retina phenotype

(Hsu et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Tbp^sI10 enhances the eye phenotypes seen when Hsap\HTT^{97QP.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PU. The eyes appear glassy with large necrotic patches and the photoreceptor loss is also further reduced. Tbp^sI10 has no effect on the amount of protein aggregates seen.

Co-expressing Tbp^Scer\UAS.cHa and Hsap\HTT^{97QP.Scer\UAS} under the control of Scer\GAL4^GMR.PU induces severe retinal degeneration. The photoreceptor loss seen in Hsap\HTT^{97QP.Scer\UAS}-expressing flies is enhanced, and there is increased protein aggregate formation.

(Hsu et al., 2014)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

68417

w^*; P{UAS-HTT.ex1.Q97}3

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Hsap\HD^{97QP.Scer\UAS}

Hsap\HTT^{97QP.Scer\UAS}

Hsap\HTT^{Q97.ex1.Scer\UAS}

Hsap\HTT^Q97.ex1.UAS

Name Synonyms

Secondary FlyBase IDs

References (7)

Report Sections

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