FlyBase Allele Report: Zzzz\CTG[term.CTG.99.UAS]

General Information

Symbol

Zzzz\CTG^{term.CTG.99.UAS}

Species

a. artificial

Name

FlyBase ID

FBal0277310

Feature type

allele

Associated gene

Zzzz\CTG

Associated Insertion(s)

Carried in Construct

P{UAS-rCUG.term99}

Transgenic product class

trinucleotide_repeat_expansion

(van Eyk et al., 2011)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(van Eyk et al., 2011)

Mutagen

in vitro construct

(van Eyk et al., 2011)

Progenitor genotype

Carried in construct

P{UAS-rCUG.term99}

Cytology

Description

UAS regulatory sequences drive expression of a Zzzz\CTG-variant where a termination codon is inserted immediately upstream of 99 CTG repeats having the effect of moving the CTG repeats into the 3'-untranslated region of the transcript.

(van Eyk et al., 2011)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Zzzz\CTG

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 neurodegenerative disease

CEA with Mef2^GD5039

(van Eyk et al., 2011)

CEA with mod(mdg4)^GD16547

(van Eyk et al., 2011)

DOES NOT model neurodegenerative disease

CEA

(van Eyk et al., 2011)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of neurodegenerative disease

is exacerbated by sgg^UAS.cBa

(van Eyk et al., 2011)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(van Eyk et al., 2011)

DMPK:n.3_prime_UTR[99CUG]

(FlyBase curators, 2019-)

Variants Synonym(s)

DMPK, (CTG)n REPEAT EXPANSION, 3-PRIME UTR

DMPK:n.3_prime_UTR[99CTG]

Associated human disease model(s)

myotonic dystrophy 1

External database links

ClinVar: 5049

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Zzzz\CTG^{term.CTG.99.Scer\UAS} under the control of Scer\GAL4^GMR.PFa does not cause a visible disruption to the external patterning of the eye.

(van Eyk et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Zzzz\CTG^{term.CTG.99.UAS}/Scer\GAL4^GMR.PFa is an enhancer of visible phenotype of Scer\GAL4^GMR.PFa, sgg^UAS.cBa

(van Eyk et al., 2011)

Suppressor of

Statement

Reference

Zzzz\CTG^{term.CTG.99.UAS}/Scer\GAL4^GMR.PFa is a suppressor | heat sensitive of viable phenotype of Scer\GAL4^GMR.PFa, sgg^UAS.cBa

(van Eyk et al., 2011)

Other

Statement

Reference

Mef2^GD5039, Scer\GAL4^GMR.PFa, Zzzz\CTG^{term.CTG.99.UAS} has visible phenotype

(van Eyk et al., 2011)

Scer\GAL4^GMR.PFa, Zzzz\CTG^{term.CTG.99.UAS}, mod(mdg4)^GD16547 has visible phenotype

(van Eyk et al., 2011)

Phenotype Manifest In

Enhancer of

Statement

Reference

Zzzz\CTG^{term.CTG.99.UAS}/Scer\GAL4^GMR.PFa is an enhancer of eye phenotype of Scer\GAL4^GMR.PFa, sgg^UAS.cBa

(van Eyk et al., 2011)

Other

Statement

Reference

Mef2^GD5039, Scer\GAL4^GMR.PFa, Zzzz\CTG^{term.CTG.99.UAS} has eye phenotype

(van Eyk et al., 2011)

Scer\GAL4^GMR.PFa, Zzzz\CTG^{term.CTG.99.UAS}, mod(mdg4)^GD16547 has eye phenotype

(van Eyk et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Mef2^GD5039 with Zzzz\CTG^{term.CTG.99.Scer\UAS} under the control of Scer\GAL4^GMR.PFa results in a marked disruption of the pigmentation and patterning of the eye.

Co-expression of mod(mdg4)^GD16547 with Zzzz\CTG^{term.CTG.99.Scer\UAS} under the control of Scer\GAL4^GMR.PFa results in a marked disruption of the pigmentation and patterning of the eye.

Co-expression of sgg^Scer\UAS.cBa with Zzzz\CTG^{term.CTG.99.Scer\UAS} under the control of Scer\GAL4^GMR.PFa is completely lethal at 25[o]C. When flies are grown at 23[o]C to reduce expression levels of the Scer\UAS constructs, a severe phenotype involving loss of pigmentation, necrotic patches and a loss of ommatidial organisation of the eye is observed.

(van Eyk et al., 2011)

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 (2)

Reported As

Symbol Synonym

Zzzz\CTG^{term.CTG.99.Scer\UAS}

Zzzz\CTG^{term.CTG.99.UAS}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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