FlyBase Allele Report: Hsap\HTT[145Q.UAS.Tag:MYC]

General Information

Symbol

Hsap\HTT^{145Q.UAS.Tag:MYC}

Species

H. sapiens

Name

FlyBase ID

FBal0376314

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

PBac{UAS-hHTT.145Q.MYC}

Key Links

Transgenic product class

missense_variant

(Xu et al., 2022)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Xu et al., 2022)

Mutagen

in vitro construct

(Xu et al., 2022)

Progenitor genotype

Carried in construct

PBac{UAS-hHTT.145Q.MYC}

Cytology

Description

UASt regulates expression of Tag:MYC-tagged Hsap\HTT with a 145Q poly-glutamine (polyQ) tract.

(Xu et al., 2022)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\HTT

Tagged with

Tag:MYC

epitope tag

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

(Xu et al., 2022)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Xu et al., 2022)

HTT:p.Gln18[145]

(FlyBase curators, 2019-)

Variants Synonym(s)

HTT, (CAG)n REPEAT EXPANSION

HTT:p.Gln18[145Gln]

Associated human disease model(s)

Huntington disease

External database links

ClinVar: HTT_409

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | adult stage, with Scer\GAL4^GMR.PU

(Xu et al., 2022)

decreased cell number | adult stage, with Scer\GAL4^GMR.PU

(Xu et al., 2022)

short lived, with Scer\GAL4^elav-C155

(Xu et al., 2022)

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

(Xu et al., 2022)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PU

(Xu et al., 2022)

eye photoreceptor cell | adult stage | decreased number, with Scer\GAL4^GMR.PU

(Xu et al., 2022)

ommatidium | adult stage, with Scer\GAL4^GMR.PU

(Xu et al., 2022)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has decreased cell number | adult stage phenotype, enhanceable by Hsap\F8A1^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has abnormal neuroanatomy | adult stage phenotype, enhanceable by Hsap\F8A1^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

NOT Enhanced by

Statement

Reference

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has decreased cell number | adult stage phenotype, non-enhanceable by Hap40^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has abnormal neuroanatomy | adult stage phenotype, non-enhanceable by Hap40^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Suppressed by

Statement

Reference

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has decreased cell number | adult stage phenotype, suppressible | partially by Hap40^ko3

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has abnormal neuroanatomy | adult stage phenotype, suppressible | partially by Hap40^ko3

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has visible | adult stage | progressive phenotype, suppressible | partially by Hap40^ko3

(Xu et al., 2022)

NOT suppressed by

Statement

Reference

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has decreased cell number | adult stage phenotype, non-suppressible by Hap40^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has abnormal neuroanatomy | adult stage phenotype, non-suppressible by Hap40^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has eye photoreceptor cell | adult stage | decreased number phenotype, enhanceable by Hsap\F8A1^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has ommatidium | adult stage phenotype, enhanceable by Hsap\F8A1^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

NOT Enhanced by

Statement

Reference

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has eye photoreceptor cell | adult stage | decreased number phenotype, non-enhanceable by Hap40^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has ommatidium | adult stage phenotype, non-enhanceable by Hap40^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Suppressed by

Statement

Reference

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has eye photoreceptor cell | adult stage | decreased number phenotype, suppressible | partially by Hap40^ko3

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has ommatidium | adult stage phenotype, suppressible | partially by Hap40^ko3

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has eye phenotype, suppressible | partially by Hap40^ko3

(Xu et al., 2022)

NOT suppressed by

Statement

Reference

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has eye photoreceptor cell | adult stage | decreased number phenotype, non-suppressible by Hap40^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

Hsap\HTT^{145Q.UAS.Tag:MYC}, Scer\GAL4^GMR.PU has ommatidium | adult stage phenotype, non-suppressible by Hap40^UAS.cXa, Scer\GAL4^GMR.PU

(Xu et al., 2022)

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\HTT^{145Q.UAS.Tag:MYC}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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