FlyBase Allele Report: Zzzz\GGGGCC[49.UAS]

General Information

Symbol

Zzzz\GGGGCC^49.UAS

Species

a. artificial

Name

FlyBase ID

FBal0352454

Feature type

allele

Associated gene

Zzzz\GGGGCC

Associated Insertion(s)

Carried in Construct

P{UAS-(GGGGCC)₄₉}

Also Known As

UAS-(G4C2)49

Transgenic product class

short_tandem_repeat_expansion

(Kramer et al., 2016)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

short_tandem_repeat_expansion

(Kramer et al., 2016)

Mutagen

in vitro construct

(Kramer et al., 2016)

Progenitor genotype

Carried in construct

P{UAS-(GGGGCC)₄₉}

Cytology

Description

UAS regulates expression of 49 pure GGGGCC repeats, modeling the hexanucleotide repeat seen in Hsap\C9orf72 associated with amyotrophic lateral sclerosis and frontotemporal dementia.

(Kramer et al., 2016)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Zzzz\GGGGCC

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 C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis

CEA

(Berson et al., 2019, Goodman et al., 2019, Mordes et al., 2018, Kramer et al., 2016)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis

is ameliorated by Atu^GD8296

(Goodman et al., 2019)

is ameliorated by hyx^HMC03494

(Goodman et al., 2019)

is ameliorated by Atu^KK104959

(Goodman et al., 2019)

is ameliorated by Ctr9^HMS00619

(Goodman et al., 2019)

is ameliorated by Ctr9^KK101412

(Goodman et al., 2019)

is ameliorated by Rtf1^HMS00168

(Goodman et al., 2019)

is ameliorated by Rtf1^KK101209

(Goodman et al., 2019)

is ameliorated by atms^GD9782

(Goodman et al., 2019)

is ameliorated by atms^KK100080

(Goodman et al., 2019)

is ameliorated by hyx^GD12640

(Goodman et al., 2019)

is ameliorated by spt4^HMS00685

(Kramer et al., 2016)

is exacerbated by Hsf^+t8

(Mordes et al., 2018)

is ameliorated by Ref1^HMS01301

(Berson et al., 2019)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Kramer et al., 2016)

This construct encodes only the RNA repeat motif.

C9orf72:n.intron1[49GGGGCC]

(FlyBase curators, 2019-)

Variants Synonym(s)

C9ORF72, (GGGGCC)n REPEAT EXPANSION

C9ORF72, (G4C2)n REPEAT EXPANSION

Associated human disease model(s)

frontotemporal dementia and/or amyotrophic lateral sclerosis 1

External database links

ClinVar: C9orf72_31151

Comments concerning this variant

Phenotypic Data

Phenotypic Class

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

(Yeewa et al., 2024)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\GGGGCC^49.UAS has visible | adult stage phenotype, non-enhanceable by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

NOT suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\GGGGCC^49.UAS has visible | adult stage phenotype, non-suppressible by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\GGGGCC^49.UAS has eye phenotype, non-enhanceable by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

NOT suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\GGGGCC^49.UAS has eye phenotype, non-suppressible by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

84727

w¹¹¹⁸; P{UAS-(GGGGCC)₄₉}48-10

84726

w¹¹¹⁸; P{UAS-(GGGGCC)₄₉}48-3.1/TM6C, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Zzzz\GGGGCC^49.UAS

Name Synonyms

Secondary FlyBase IDs

References (10)

Report Sections

Open Close