FlyBase Allele Report: Dmel\Fmr1[GD1288]

General Information

Symbol

Dmel\Fmr1^GD1288

Species

D. melanogaster

Name

FlyBase ID

FBal0207043

Feature type

allele

Associated gene

Dmel\Fmr1

Associated Insertion(s)

Carried in Construct

P{GD1288}

Also Known As

Fmr1 RNAi

Key Links

Genomic Maps

JBrowse

Transgenic product class

RNAi_reagent

(Dickson et al., 2007.7.18)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

RNAi_reagent

(Dickson et al., 2007.7.18)

Mutagen

in vitro construct

(Dickson et al., 2007.7.18)

Progenitor genotype

Carried in construct

P{GD1288}

Cytology

Description

UASt regulatory sequences drive expression of an inverted repeat.

(Dickson et al., 2007.7.18)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

dsRNA-GD1288

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 fragile X syndrome

CEA

(Kanellopoulos et al., 2012)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates amyotrophic lateral sclerosis

modeled by Hsap\TARDBP^UAS.YFP.cEa

(Coyne et al., 2015)

modeled by Hsap\TARDBP^{G298S.UAS.YFP}

(Coyne et al., 2015)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

Expression of Fmr1^GD1288 results in learning and memory defects reminiscent of those observed in fragile X syndrome patients.

(Kanellopoulos et al., 2012)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal learning | adult stage, with Scer\GAL4^c747

(Kanellopoulos et al., 2012)

abnormal learning | adult stage, with Scer\GAL4^elav.PU

(Kanellopoulos et al., 2012)

abnormal learning | adult stage, with Scer\GAL4^Mef2.247

(Kanellopoulos et al., 2012)

abnormal memory | adult stage, with Scer\GAL4^c747

(Kanellopoulos et al., 2012)

abnormal memory | adult stage, with Scer\GAL4^elav.PU

(Kanellopoulos et al., 2012)

viable, with Dcr-2^UAS.cDa, Scer\GAL4^elav.PLu

(Neely et al., 2010)

viable, with Scer\GAL4^Mef2.PR

(Schnorrer et al., 2010)

viable, with Scer\GAL4^pnr-MD237

(Mummery-Widmer et al., 2009)

viable, with Scer\GAL4^tin.CΔ4

(Neely et al., 2010)

Phenotype Manifest In

spermatocyte | spermatogenesis, with Scer\GAL4^path-c135

(Bozzetti et al., 2015)

spermatocyte | spermatogenesis, with Scer\GAL4^upd1.PU

(Bozzetti et al., 2015)

Detailed Description

Statement

Reference

The expression of Fmr1^GD1288 under the control of Scer\GAL4^c135 (one driver copy) or Scer\GAL4^upd1.PU (one driver copy), but not of Scer\GAL4^nos.PU (one or two driver copies), leads to the formation of crystalline aggregates (of Stellate protein) in spermatocytes, which are absent in control spermatocytes.

(Bozzetti et al., 2015)

Expression of Fmr1^GD1288 under the control of Scer\GAL4^elav.PU (in combination with GAL80ts to limit expression to adult stage) results in learning and memory defects as compared to controls in a negatively reinforced olfactory learning paradigm. Learning defects are reversed by feeding flies with the pyrrolidinone Rolipram.

Expression of Fmr1^GD1288 under the control of Scer\GAL4^c747 or Scer\GAL4^Mef2.247 results in learning defects as compared to controls in a negatively reinforced olfactory learning paradigm.

Expression of Fmr1^GD1288 under the control of Scer\GAL4^c747 (in combination with GAL80ts to limit expression to adult stage) results in learning and memory defects as compared to controls in a negatively reinforced olfactory learning paradigm. Learning defects are reversed by feeding the flies 2-Methyl-6-(phenylethynyl)pyridine.

Expression of Fmr1^GD1288 under the control of Fmr1^GD1288, Scer\GAL4^c747, Scer\GAL4^Mef2.247 or Scer\GAL4^c747 results in increased learning performance with 2 or 4 CS-US pairings, worse performance with 6 or 8 pairings, and similar performance with 12 pairings, compared to controls.

Expression of Fmr1^GD1288 under the control of Scer\GAL4^NP1131 or under the control of Scer\GAL4^Alp4-c507 does not result in learning defects as compared to controls in a negatively reinforced olfactory learning paradigm.

(Kanellopoulos et al., 2012)

Adults expressing Fmr1^GD1288 under the control of Scer\GAL4^elav.PLu (in the presence of Dcr-2^Scer\UAS.cDa to increase the efficiency of RNAi) do not show a significant defect in avoidance of noxious temperature (46[o]C) compared to control flies.

(Neely et al., 2010)

External Data

Linkouts

Bristle Screen Database (Knoblich Lab) - A database for RNAi phenotypes in bristle and notum development

1288

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Fmr1^GD1288, Scer\GAL4^GMR.PU is an enhancer of abnormal eye color | adult stage phenotype of Hsap\TARDBP^UAS.YFP.cEa, Scer\GAL4^GMR.PU

(Coyne et al., 2015)

Fmr1^GD1288, Scer\GAL4^Toll-6-D42 is an enhancer of abnormal locomotor behavior | third instar larval stage phenotype of Hsap\TARDBP^UAS.YFP.cEa, Scer\GAL4^Toll-6-D42

(Coyne et al., 2015)

Fmr1^GD1288, Scer\GAL4^GMR.PU is an enhancer of abnormal eye color | adult stage phenotype of Hsap\TARDBP^{G298S.UAS.YFP}, Scer\GAL4^GMR.PU

(Coyne et al., 2015)

Fmr1^GD1288, Scer\GAL4^Toll-6-D42 is an enhancer of abnormal locomotor behavior | third instar larval stage phenotype of Hsap\TARDBP^{G298S.UAS.YFP}, Scer\GAL4^Toll-6-D42

(Coyne et al., 2015)

Fmr1^GD1288, Scer\GAL4^Toll-6-D42 is an enhancer of abnormal locomotor behavior | third instar larval stage phenotype of Scer\GAL4^Toll-6-D42, TBPH^GD6943

(Coyne et al., 2015)

Other

Statement

Reference

Fmr1^GD1288, Hsap\TARDBP^UAS.YFP.cEa, Scer\GAL4^Toll-6-D42 has lethal - all die before end of pupal stage phenotype

(Coyne et al., 2015)

Fmr1^GD1288, Hsap\TARDBP^{G298S.UAS.YFP}, Scer\GAL4^Toll-6-D42 has lethal - all die before end of pupal stage phenotype

(Coyne et al., 2015)

Phenotype Manifest In

Enhancer of

Statement

Reference

Fmr1^GD1288, Scer\GAL4^GMR.PU is an enhancer of eye | adult stage phenotype of Hsap\TARDBP^UAS.YFP.cEa, Scer\GAL4^GMR.PU

(Coyne et al., 2015)

Fmr1^GD1288, Scer\GAL4^GMR.PU is an enhancer of eye | adult stage phenotype of Hsap\TARDBP^{G298S.UAS.YFP}, Scer\GAL4^GMR.PU

(Coyne et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

The longer time it takes for third instar larvae expressing TBPH^GD6943 under the control of Scer\GAL4^Toll-6-D42 to roll over in a turning assay compared to wild-type controls is lengthened further by co-expression of Fmr1^GD1288 RNAi and, to a lesser extent, also by co-expression of Fmr1^{Scer\UAS.T:Avic\GFP-YFP}.

(Coyne et al., 2015)

Xenogenetic Interactions

Statement

Reference

The depigmentation phenotype in the adult eye and the lengthened time it takes for larvae to roll over in a turning assay characteristic for animals expressing Hsap\TARDBP^{Scer\UAS.T:Avic\GFP-YFP.cEa} under the control of Scer\GAL4^GMR.PU or Scer\GAL4^Toll-6-D42 respectively, are exacerbated further by co-expression of Fmr1^GD1288 RNAi. However, co-expression of Hsap\TARDBP^{Scer\UAS.T:Avic\GFP-YFP.cEa} and Fmr1^GD1288 under the Scer\GAL4^Toll-6-D42 driver is pupal stage lethal.

The depigmentation phenotype in the adult eye and the lengthened time it takes for larvae to roll over in a turning assay characteristic for animals expressing Hsap\TARDBP^{G298S.Scer\UAS.T:Avic\GFP-YFP} under the control of Scer\GAL4^GMR.PU or Scer\GAL4^Toll-6-D42 respectively, are exacerbated further by co-expression of Fmr1^GD1288 RNAi. However, co-expression of Hsap\TARDBP^{G298S.Scer\UAS.T:Avic\GFP-YFP} and Fmr1^GD1288 under the Scer\GAL4^Toll-6-D42 driver is pupal stage lethal.