FlyBase Allele Report: Hsap\HTT[90.Q120.UAS]

General Information

Symbol

Hsap\HTT^90.Q120.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0302505

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

M{UAS-HTT.ex1.Q120}

Also Known As

UAS-HTTex1.Q120

Key Links

Transgenic product class

inframe_deletion

(Barbaro et al., 2015)

trinucleotide_repeat_expansion

(Barbaro et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Barbaro et al., 2015)

trinucleotide_repeat_expansion

(Barbaro et al., 2015)

Mutagen

in vitro construct

(Barbaro et al., 2015)

Progenitor genotype

Carried in construct

M{UAS-HTT.ex1.Q120}

Cytology

Description

UAS regulatory sequences drive expression of an N-terminal Hsap\HTT fragment (1-90). Numbering is based on huntingtin containing 23 Qs.

(Barbaro 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

(Farkas et al., 2023, Zsindely et al., 2023, Faragó et al., 2022, Yin et al., 2022, Chatterjee et al., 2021, Faragó et al., 2019, Lakra et al., 2019, Barbaro et al., 2015)

CEC

(Varga et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Huntington's disease

is ameliorated by His3.3A^{K14Q.UAS.Tag:FLAG}

(Faragó et al., 2022)

is exacerbated by His3.3A^{K14R.UAS.Tag:FLAG}

(Faragó et al., 2022)

is exacerbated by His3.3A^{K27Q.UAS.Tag:FLAG}

(Faragó et al., 2022)

is exacerbated by His3.3A^{K27R.UAS.Tag:FLAG}

(Faragó et al., 2022)

is ameliorated by His3.3A^{K9M.UAS.Tag:FLAG}

(Faragó et al., 2022)

is exacerbated by His3.3A^{K9Q.UAS.Tag:FLAG}

(Faragó et al., 2022)

is exacerbated by His3.3A^{K9R.UAS.Tag:FLAG}

(Faragó et al., 2022)

is ameliorated by Hat1^Δ57

(Varga et al., 2019)

is ameliorated by Yod1^UAS.Tag:FLAG

(Farkas et al., 2023)

is exacerbated by mir-1010^UAS.cSa

(Zsindely et al., 2023)

is ameliorated by mir-1010^UAS.cSa

(Zsindely et al., 2023)

is ameliorated by mir-137^UAS.cSa

(Zsindely et al., 2023)

is exacerbated by mir-219^UAS.cSb

(Zsindely et al., 2023)

is ameliorated by mir-305^UAS.pLUC

(Zsindely et al., 2023)

is ameliorated by Crtc^UAS.Tag:HA

(Yin 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.

(Barbaro et al., 2015)

HTT:p.Gln18[120]

(FlyBase curators, 2019-)

Variants Synonym(s)

HTT:p.Gln18[120Gln]

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

Phenotype Manifest In

rhabdomere, with Scer\GAL4^elav-C155

(Barbaro et al., 2015)

rhabdomere of eye photoreceptor cell, with Scer\GAL4^elav.PU

(Varga et al., 2019)

Detailed Description

Statement

Reference

The expression Hsap\HTT^90.Q120.UAS under the control of Scer\GAL4^elav.PU induces eye neurodegeneration, as observed by the decreased number of rhabdomeres per ommatidium, as compared to controls.

(Varga et al., 2019)

Animals expressing Hsap\HTT^{90.Q120.Scer\UAS} under the control of Scer\GAL4^elav-C155 show statistical reduction in eclosion compared with wild-type.

Flies expressing Scer\GAL4^elav-C155>Hsap\HTT^{90.Q120.Scer\UAS} show significant reduction in the number of rhabdomeres compared with wild-type.

Flies expressing Scer\GAL4^elav-C155>Hsap\HTT^{90.Q120.Scer\UAS} show impaired climbing speed at 10 days post-eclosion compared with wild-type. While at 3 days post-eclosion some of the mutants can climb, at 10 days almost none of them are able to do so.

Flies expressing Scer\GAL4^elav-C155>Hsap\HTT^{90.Q120.Scer\UAS} live less than one-tenth as long as wild-type.

No animals that express Hsap\HTT^{90.Q120.Scer\UAS} ubiquitously under the control of Scer\GAL4^da.G32 survive to eclose. The Hsap\HTT^{90.Q120.Scer\UAS}-expressing animals die as larvae.

(Barbaro et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\HTT^90.Q120.UAS, Scer\GAL4^elav.PU has decreased cell number | adult stage phenotype, suppressible | partially by Hat1[+]/Hat1^Δ57

(Varga et al., 2019)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\HTT^90.Q120.UAS, Scer\GAL4^elav.PU has rhabdomere of eye photoreceptor cell phenotype, suppressible | partially by Hat1[+]/Hat1^Δ57

(Varga et al., 2019)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

68408

w^*; M{UAS-HTT.ex1.Q120}ZH-51D

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\HTT^{90.Q120.Scer\UAS}

Hsap\HTT^90.Q120.UAS

Name Synonyms

Secondary FlyBase IDs

References (11)

Report Sections

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