FlyBase Allele Report: Hsap\HTT[72Q.UAS.Emerald]

General Information

Symbol

Hsap\HTT^{72Q.UAS.Emerald}

Species

H. sapiens

Name

FlyBase ID

FBal0319874

Feature type

allele

Associated gene

Hsap\HTT

Associated Insertion(s)

Carried in Construct

P{UAS-HTT.72Q.Emerald}

Key Links

Transgenic product class

inframe_deletion

(Quinn, 2014.7.18)

trinucleotide_repeat_expansion

(Quinn, 2014.7.18)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Quinn, 2014.7.18)

trinucleotide_repeat_expansion

(Quinn, 2014.7.18)

Mutagen

in vitro construct

(Quinn, 2014.7.18)

Progenitor genotype

Carried in construct

P{UAS-HTT.72Q.Emerald}

Cytology

Description

UAS regulatory sequences drive expression of the first exon of Hsap\HTT tagged at the C-terminal end with Emerald. 72 glutamine residues are encoded by the CAG/polyQ track in the Hsap\HTT sequence.

(Quinn, 2014.7.18)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\HTT

Tagged with

Emerald

green fluorescent protein

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 ( 1 )

Disease

Interaction

References

model of neurodegenerative disease

is exacerbated by Tom40^GD5210

(Liu et al., 2018)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

rhabdomere of eye photoreceptor cell | adult stage | progressive, with Scer\GAL4^GMR.PU

(Liu et al., 2018)

Detailed Description

Statement

Reference

The expression of Hsap\HTT^{72Q.UAS.Emerald} under the control of Scer\GAL4^GMR.PU (together with Dicer-2, for efficient RNAi) leads to progressive eye defects, as compared to controls (normal eyes in 2 days old adults; loss of rhabdomeres in 30 days old adults).

(Liu et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\HTT^{72Q.UAS.Emerald}, Scer\GAL4^GMR.PU has rhabdomere of eye photoreceptor cell | adult stage | progressive phenotype, enhanceable by Tom40^JF02030, Scer\GAL4^GMR.PU

(Liu et al., 2018)

Enhancer of

Statement

Reference

Hsap\HTT^{72Q.UAS.Emerald}, Scer\GAL4^GMR.PU is an enhancer of rhabdomere of eye photoreceptor cell | adult stage | progressive phenotype of Scer\GAL4^GMR.PU, Tom40^JF02030

(Liu et al., 2018)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

56775

w^*; P{UAS-HTT.72Q.Emerald}2/CyO

58361

w^*; P{UAS-HTT.72Q.Emerald}3/TM3, Sb¹

Notes on Origin

Discoverer

Comments

Through to FB2016_04, this allele was mistakingly listed and described as an allele of D. melanogaster 'htt'; it is now correctly shown as an allele of human HTT.

(Quinn, 2014.7.18)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Hsap\HTT^{72Q.Scer\UAS.T:Avic\GFP-EMD}

Hsap\HTT^{72Q.UAS.EmGFP}

Hsap\HTT^{72Q.UAS.Emerald}

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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