FlyBase Allele Report: Dmel\Ret[MEN2A.UAS]

General Information

Symbol

Dmel\Ret^MEN2A.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0297249

Feature type

allele

Associated gene

Dmel\Ret

Associated Insertion(s)

Carried in Construct

P{UAS-Ret.MEN2A}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Macagno et al., 2014)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Macagno et al., 2014)

Mutagen

in vitro construct

(Macagno et al., 2014)

Progenitor genotype

Carried in construct

P{UAS-Ret.MEN2A}

Cytology

Description

UAS regulatory sequences drive expression of a constitutively active form of Ret with the amino acid replacement C695R.

(Macagno et al., 2014)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Ret

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:21,184,913..21,184,913 [-]

Nucleotide change:

T21184913C

Amino acid change:

C695R | Ret-PA; C695R | Ret-PB; C695R | Ret-PC

Reported amino acid change:

C695R

Comment:

Analogous mutation in human RET implicated in multiple endocrine neoplasia, type IIA; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Macagno et al., 2014)

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 multiple endocrine neoplasia type 2A

is exacerbated by Fak^CG1

(Macagno et al., 2014)

is ameliorated by Fak^UAS.Tag:HA

(Macagno et al., 2014)

is exacerbated by Fak^5-SZ-3124

(Macagno et al., 2014)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Macagno et al., 2014)

RET:p.Cys634Arg

(FlyBase curators, 2019-)

Variants Synonym(s)

RET:p.Cys380Arg

Associated human disease model(s)

multiple endocrine neoplasia, type IIA

External database links

ClinVar: RET_13917

Comments concerning this variant

Phenotypic Data

Phenotypic Class

partially lethal - majority die, with Scer\GAL4^dpp.PU

(Macagno et al., 2014)

partially lethal - majority die, with Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

visible, with Scer\GAL4^GMR.PU

(Aron et al., 2010)

visible, with Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

Phenotype Manifest In

anterior crossvein, with Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

epandrium, with Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

eye, with Scer\GAL4^GMR.PU

(Aron et al., 2010)

wing disc, with Scer\GAL4^dpp.PU

(Macagno et al., 2014)

wing vein, with Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

Detailed Description

Statement

Reference

46% of flies expressing expressing Ret^{MEN2A.Scer\UAS} under the control of Scer\GAL4^ptc-559.1 make it to adulthood. All adult escapers show wing vein defects, with absence of the anterior crossvein. All males also display rotation defects in the epandrium. Morphological defects are seen when Ret^{MEN2A.Scer\UAS} is expressed in the wing disc under the control of Scer\GAL4^dpp.PU.

(Macagno et al., 2014)

Over-expression of Ret^{MEN2A.Scer\UAS} driven by Scer\GAL4^GMR.PU leads to a moderate rough eye phenotype, with the eye significantly smaller than control flies.

(Aron et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Ret^MEN2A.UAS, Scer\GAL4^dpp.PU has partially lethal - majority die phenotype, enhanceable by Fak^CG1/Fak^5-SZ-3124

(Macagno et al., 2014)

Ret^MEN2A.UAS, Scer\GAL4^GMR.PU has visible phenotype, enhanceable by DJ-1α^UAS.cMa, Scer\GAL4^GMR.PU

(Aron et al., 2010)

Suppressed by

Statement

Reference

Ret^MEN2A.UAS, Scer\GAL4^ptc-559.1 has visible phenotype, suppressible by Fak^UAS.Tag:HA, Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

Ret^MEN2A.UAS, Scer\GAL4^ptc-559.1 has partially lethal - majority die phenotype, suppressible by Fak^UAS.Tag:HA, Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

Phenotype Manifest In

Enhanced by

Statement

Reference

Ret^MEN2A.UAS, Scer\GAL4^dpp.PU has wing disc phenotype, enhanceable by Fak^CG1/Fak^5-SZ-3124

(Macagno et al., 2014)

Ret^MEN2A.UAS, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by DJ-1α^UAS.cMa, Scer\GAL4^GMR.PU

(Aron et al., 2010)

Suppressed by

Statement

Reference

Ret^MEN2A.UAS, Scer\GAL4^ptc-559.1 has wing vein phenotype, suppressible by Fak^UAS.Tag:HA, Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

Ret^MEN2A.UAS, Scer\GAL4^ptc-559.1 has anterior crossvein phenotype, suppressible by Fak^UAS.Tag:HA, Scer\GAL4^ptc-559.1

(Macagno et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Fak^{Scer\UAS.T:Ivir\HA1} suppresses the partial lethality seen when Ret^{MEN2A.Scer\UAS} is expressed under the control of Scer\GAL4^ptc-559.1. The proportion of surviving flies rises from 46% to 92%. The wing vein and male genitalia defects seen in adult flies are also suppressed.

Fak^CG1/Fak^5-SZ-3124 enhances the partial lethality and wing disc defects seen when Ret^{MEN2A.Scer\UAS} is expressed under the control of Scer\GAL4^dpp.PU. The proportion of surviving flies rises from 46% to 92%.

(Macagno et al., 2014)

Co-expression of DJ-1α^Scer\UAS.cMa enhances severity of the small rough eye phenotype in flies with Ret^{MEN2A.Scer\UAS} driven by Scer\GAL4^GMR.PU.

(Aron et al., 2010)

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 (2)

Reported As

Symbol Synonym

Ret^{MEN2A.Scer\UAS}

Ret^MEN2A.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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