FlyBase Allele Report: Zzzz\CTG[i480.UAS]

General Information

Symbol

Zzzz\CTG^i480.UAS

Species

a. artificial

Name

FlyBase ID

FBal0279556

Feature type

allele

Associated gene

Zzzz\CTG

Associated Insertion(s)

Carried in Construct

P{UAS-CTG.i480}

Transgenic product class

short_tandem_repeat_expansion

(de Haro et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

short_tandem_repeat_expansion

(de Haro et al., 2006)

Mutagen

in vitro construct

(de Haro et al., 2006)

Progenitor genotype

Carried in construct

P{UAS-CTG.i480}

Cytology

Description

UASt regulatory sequences drive expression of a non-coding mRNA containing 480 interrupted Zzzz\CTG repeats made of the sequence [(CUG)[[20]]CUCGA][[24]].

(de Haro et al., 2006)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

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 myotonic disease

CEA

(de Haro et al., 2006)

model of myotonic dystrophy type 1

CEC

(de Haro et al., 2013)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of myotonic disease

is ameliorated by Hsap\MBNL1^{UAS.Tag:Xpress}

(de Haro et al., 2006)

model of myotonic dystrophy type 1

is ameliorated by smg^EP3556

(de Haro et al., 2013)

is exacerbated by smg¹

(de Haro et al., 2013)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(de Haro et al., 2006)

DMPK:n.3_prime_UTR[480CUG,interrupted]

(FlyBase curators, 2019-)

Variants Synonym(s)

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

DMPK:n.3_prime_UTR[480CTG,interrupted]

Associated human disease model(s)

myotonic dystrophy 1

External database links

ClinVar: 5049

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal flight, with Scer\GAL4^Mhc.PW

(de Haro et al., 2013)

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

(de Haro et al., 2006)

abnormal size | adult stage, with Scer\GAL4^GMR.PF

(de Haro et al., 2006)

flightless, with Scer\GAL4^Mhc.PW

(de Haro et al., 2006)

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

(de Haro et al., 2006)

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

(Qurashi et al., 2012)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(de Haro et al., 2006)

eye, with Scer\GAL4^GMR.PU

(de Haro et al., 2013, Qurashi et al., 2012)

indirect flight muscle cell | conditional, with Scer\GAL4^Mhc.PW

(de Haro et al., 2006)

indirect flight muscle cell | progressive, with Scer\GAL4^Mhc.PW

(de Haro et al., 2013)

interommatidial bristle, with Scer\GAL4^GMR.PF

(de Haro et al., 2006)

myofibril | conditional, with Scer\GAL4^Mhc.PW

(de Haro et al., 2006)

ommatidium, with Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Detailed Description

Statement

Reference

Scer\GAL4^GMR.PU-mediated expression results in disorganization and loss of bristles in the adult eye.

Scer\GAL4^Mhc.PW-mediated expression results in progressive muscle wasting (disorganization, vacuolization and loss of muscle fibres), as seen in the indirect flight muscles of the thorax. These animals show a severe impairment in flying ability prior to showing this muscle wasting.

(de Haro et al., 2013)

Expression of Zzzz\CTG^{i480.Scer\UAS} under the control of Scer\GAL4^GMR.PU results in a rough eye phenotype.

(Qurashi et al., 2012)

Expression of Zzzz\CTG^{i480.Scer\UAS} in the eye under the control of Scer\GAL4^GMR.PF causes disorganisation and fusion of the ommatidia, as well as loss and duplication of inter-ommatidial bristles. The eyes are small in comparison with controls.

One day old flies expressing Zzzz\CTG^{i480.Scer\UAS} under the control of Scer\GAL4^Mhc.PW are unable to fly, but show no evidence of muscle degeneration. 10 day old flies show degeneration and vacuolization of the indirect flight muscles (IFM) and loss of the structure of muscle fibres. By 20 days the wasting of the IFM is more severe, showing a diffuse matrix. The density of myofibrils decreases and some muscles are absent. The structure of the fibres has been lost and the nuclei appear dispersed compared to controls. The phenotype is seen in 100% of flies, with only 14.3% of IFMs appearing normal.

(de Haro et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has visible | adult stage phenotype, enhanceable by mbl[+]/mbl^KG08885

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has abnormal neuroanatomy | adult stage phenotype, enhanceable by mbl[+]/mbl^KG08885

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has abnormal size | adult stage phenotype, enhanceable by mbl[+]/mbl^KG08885

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has visible | adult stage phenotype, enhanceable by Hsap\CELF1^UAS.cdHa, Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has abnormal neuroanatomy | adult stage phenotype, enhanceable by Hsap\CELF1^UAS.cdHa, Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Suppressed by

Statement

Reference

Scer\GAL4^Mhc.PW, Zzzz\CTG^i480.UAS has abnormal flight phenotype, suppressible by smg^EP3556/Scer\GAL4^Mhc.PW

(de Haro et al., 2013)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Zzzz\CTG^i480.UAS has abnormal neuroanatomy | adult stage phenotype, suppressible | partially by Hsap\MBNL1^{UAS.Tag:Xpress}/Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PF

(de Haro et al., 2006)

NOT suppressed by

Statement

Reference

Scer\GAL4^GMR.PU, Zzzz\CTG^i480.UAS has visible | adult stage phenotype, non-suppressible by GIIIspla2^EP1516/GIIIspla2[+]

(Qurashi et al., 2012)

Phenotype Manifest In

Enhanced by

Statement

Reference

Scer\GAL4^GMR.PU, Zzzz\CTG^i480.UAS has eye phenotype, enhanceable by smg[+]/smg¹

(de Haro et al., 2013)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has eye phenotype, enhanceable by mbl[+]/mbl^KG08885

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has ommatidium phenotype, enhanceable by mbl[+]/mbl^KG08885

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has eye phenotype, enhanceable by Hsap\CELF1^UAS.cdHa, Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has ommatidium phenotype, enhanceable by Hsap\CELF1^UAS.cdHa, Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Scer\GAL4^Mhc.PW, Zzzz\CTG^i480.UAS has indirect flight muscle cell | conditional phenotype, enhanceable by Hsap\CELF1^UAS.cdHa, Scer\GAL4^Mhc.PW

(de Haro et al., 2006)

Suppressed by

Statement

Reference

Scer\GAL4^GMR.PU, Zzzz\CTG^i480.UAS has eye phenotype, suppressible by smg^EP3556/Scer\GAL4^GMR.PU

(de Haro et al., 2013)

Scer\GAL4^Mhc.PW, Zzzz\CTG^i480.UAS has indirect flight muscle cell | progressive phenotype, suppressible by smg^EP3556/Scer\GAL4^Mhc.PW

(de Haro et al., 2013)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has eye phenotype, suppressible | partially by Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS has ommatidium phenotype, suppressible | partially by Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PF

(de Haro et al., 2006)

Scer\GAL4^Mhc.PW, Zzzz\CTG^i480.UAS has indirect flight muscle cell | conditional phenotype, suppressible | partially by Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^Mhc.PW

(de Haro et al., 2006)

NOT suppressed by

Statement

Reference

Scer\GAL4^GMR.PU, Zzzz\CTG^i480.UAS has eye phenotype, non-suppressible by GIIIspla2^EP1516/GIIIspla2[+]

(Qurashi et al., 2012)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

One copy of GIIIspla2^EP1516 does not suppress the rough eye phenotype seen when Zzzz\CTG^{i480.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PU.

(Qurashi et al., 2012)

One copy of mbl^KG08885 enhances the eye phenotypes seen when Zzzz\CTG^{i480.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF. The amount of ommatidial disorganisation/fusion is increased and the eye is further reduced in size.

Expression of Hsap\MBNL1^{Scer\UAS.T:Zzzz\Xpress} dramatically suppresses the eye phenotype seen when Zzzz\CTG^{i480.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF. The ommatidial disorganisation and reduction in eye size are both suppressed.

Expression of Hsap\MBNL1^{Scer\UAS.T:Zzzz\Xpress} suppresses the indirect flight muscle (IFM) defects seen when Zzzz\CTG^{i480.Scer\UAS} is expressed under the control of Scer\GAL4^Mhc.PW. Very little vacuolisation is seen and the muscles have a well-defined myofibril matrix. The muscle fibres are well structured with peripherally located nuclei and the density of myofibril per muscle fibre is higher. This rescue is seen in 100% of flies, with 89.5% of IFM appearing normal.

Expression of Hsap\CELF1^{Scer\UAS.cdHa} enhances the eye phenotypes seen when Zzzz\CTG^{i480.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF. The amount of ommatidial disorganisation/fusion is increased.

Co-expression of Hsap\CELF1^{Scer\UAS.cdHa} and Zzzz\CTG^{i480.Scer\UAS} under the control of Scer\GAL4^Mhc.PW enhances the vacuolisation and loss of muscle integrity seen in the indirect flight muscles when either construct is expressed alone. Some muscle packs are absent and distribution of myofibrils is lax in the rest of the tissue. A dramatic loss of muscle structure is seen.

(de Haro et al., 2006)

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^{i480.Scer\UAS}

Zzzz\CTG^i480.UAS

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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