FlyBase Allele Report: Dmel\Fmr1[EP3517]

General Information

Symbol

Dmel\Fmr1^EP3517

Species

D. melanogaster

Name

FlyBase ID

FBal0131029

Feature type

allele

Associated gene

Dmel\Fmr1

Associated Insertion(s)

P{EP}EP3517

Carried in Construct

Also Known As

EP3517

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Bushey et al., 2009, Reeve et al., 2005, Michel et al., 2004, Morales et al., 2002, Zhang et al., 2001)

Mutagen

P-element activity

(Schenck et al., 2003, Dockendorff et al., 2002, Morales et al., 2002, Pena-Rangel et al., 2002, Gene Disruption Project members, 2001-, Zhang et al., 2001)

Progenitor genotype

Associated Insertion(s)

P{EP}EP3517

Cytology

Description

P{EP}Fmr1^EP3517 is inserted into the second exon of Fmr1, which encodes 5'-untranslated region sequences.

(Michel et al., 2004)

The orientation of the P{EP} element is the same as the direction of Fmr1 transcription.

(Shulman and Feany, 2003)

Insertion of P{EP} into 5' UTR of Fmr1, in the same orientation as Fmr1.

(Dockendorff et al., 2002)

Insertion of P{EP} into the 5' non-coding exons of the Fmr1 transcription unit.

(Zhang et al., 2001)

Allele components

Component

Use(s)

Inserted element

P{EP}

misexpression element

Regulatory region(s)

UAS

binary expression system - regulatory region

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

transposable_element_insertion_site

3R:10,109,872..10,109,872 [-]

(Yao et al., 2011, Reeve et al., 2008, Reeve et al., 2005, Michel et al., 2004, Pan et al., 2004, Schenck et al., 2004, Xu et al., 2004, Schenck et al., 2003, Shulman and Feany, 2003, Dockendorff et al., 2002, Morales et al., 2002, Pena-Rangel et al., 2002, Gene Disruption Project members, 2001-, Zhang et al., 2001)

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

(Yao et al., 2011, Michel et al., 2004, Zhang et al., 2001)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates tauopathy

modeled by Hsap\MAPT^V337M.UAS

(Shulman and Feany, 2003)

model of fragile X syndrome

is ameliorated by spas^5.75

(Yao et al., 2011)

is ameliorated by spas^RNAi.UAS

(Yao et al., 2011)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal flight (with Df(3R)by62)

(Zhang et al., 2001)

abnormal locomotor rhythm, with Scer\GAL4^tim.PE

(Dockendorff et al., 2002)

abnormal neuroanatomy

(Michel et al., 2004)

abnormal neuroanatomy, with Scer\GAL4^elav-C155

(Schenck et al., 2004)

abnormal neuroanatomy, with Scer\GAL4^P2.4.Pdf

(Reeve et al., 2008)

abnormal neuroanatomy (with Fmr1^Δ113M)

(Morales et al., 2002)

abnormal neuroanatomy | larval stage

(Scantlebury et al., 2010)

abnormal neuroanatomy | recessive

(Reeve et al., 2005)

fertile

(Dockendorff et al., 2002)

lethal, with Scer\GAL4^αTub84B.PL

(Lee et al., 2003)

lethal - all die before end of P-stage

(Scantlebury et al., 2010)

lethal - all die before end of P-stage | partially

(Morales et al., 2002)

some die during pharate adult stage

(Scantlebury et al., 2010)

some die during pharate adult stage | partially

(Morales et al., 2002)

viable

(Dockendorff et al., 2002, Zhang et al., 2001)

visible, with Scer\GAL4^GMR.PF

(Shulman and Feany, 2003)

visible, with Scer\GAL4^hs.2sev

(Zhang et al., 2001)

Phenotype Manifest In

adult mushroom body

(Michel et al., 2004)

adult mushroom body alpha-lobe

(Michel et al., 2004)

adult mushroom body beta-lobe

(Michel et al., 2004)

dorsal cluster neuron & neurite (with Fmr1^Δ113M)

(Morales et al., 2002)

embryonic/larval neuromuscular junction

(Scantlebury et al., 2010)

eye, with Scer\GAL4^GMR.PF

(Schenck et al., 2003, Shulman and Feany, 2003)

eye, with Scer\GAL4^hs.2sev

(Zhang et al., 2001)

LNv neuron

(Reeve et al., 2005)

LNv neuron, with Scer\GAL4^P2.4.Pdf

(Reeve et al., 2008)

LNv neuron (with Fmr1^Δ113M)

(Morales et al., 2002)

lobula columnar neuron LC14 (with Fmr1^Δ113M)

(Morales et al., 2002)

neuromuscular junction & synapse, with Scer\GAL4^elav-C155

(Schenck et al., 2004)

NMJ bouton

(Scantlebury et al., 2010)

ommatidium, with Scer\GAL4^GMR.PF

(Schenck et al., 2003)

synapse, with Scer\GAL4^elav-C155

(Schenck et al., 2003)

ventral adult lateral neuron & commissure

(Reeve et al., 2005)

Detailed Description

Statement

Reference

There is an increase in the total number of branches and the total number of boutons at the neuromuscular junction in mutant larvae compared to controls.

(Scantlebury et al., 2010)

Fmr1^EP3517; Scer\GAL4^n-syb.PS adults sleep significantly less per day than wild-type controls. This phenotype becomes more pronounced with age, peaking at 4 weeks in males and 10 days in females. Reduced sleep is also seen when Fmr1^EP3517 is combined with Scer\GAL4^30Y, Scer\GAL4^Tab2-201Y or Scer\GAL4^238Y but not Scer\GAL4^c309. Reduced sleep and waking activity is also seen in Fmr1^EP3517 is combined with Scer\GAL4^{elav.Switch.PO} in the presence of RU486.

Fmr1^Δ50M/Fmr1^EP3517 adults sleep significantly longer per day than wild-type, although the effect is more subtle than in Fmr1^Δ50M homozygotes and is more pronounced in females than in males. Fmr1^EP3517/+ females also sleep significantly longer than wild-type.

(Bushey et al., 2009)

Overexpression by Scer\GAL4^P2.4.Pdf results in a defasciculation phenotype of the termini of the LNv neuron's dorsal projections.

(Reeve et al., 2008)

An ectopic collateral branch is observed on the small LNv projections in 6% of Fmr1^EP3517 adult brains. The posterior tract of the LNv neurons shows a defasciculation phenotype in 22% of Fmr1^EP3517 brains. These phenotypes are not observed in Fmr1^EP3517/+ brains.

(Reeve et al., 2005)

Slightly over 60% of homozygous Fmr1^EP3517 mutants exhibit severe midline crossing in the β-lobe of the mushroom body (defined as a densely strained band equal to or greater in width and thickness than those of the adjacent β-lobes). Approximately just under 10% exhibit moderate midline crossing (defined as when the thickness of the fiber bundle crossing the midline is considerable but less than the width of the β-lobe termini). No sexual dimorphism in penetrance or expressivity is found.

Homozygous Fmr1^EP3517 mutants exhibit misdirected or missing α-lobes in approximately 10% of cases.

(Michel et al., 2004)

Larvae expressing Fmr1^EP3517 under the control of Scer\GAL4^elav-C155 have significantly shorter synapses at the neuromuscular junction (70.0 +/- 3.6 μm) compared to wild-type larvae (111.1 μm).

(Schenck et al., 2004)

Fmr1^EP3517 driven by Scer\GAL4^GMR.PF affects eye morphology - ommatidia are misorganised. When Fmr1^EP3517 is driven by Scer\GAL4^elav-C155 synaptic undergrowth is seen. The average synaptic length decreases from 105um in wild-type to 70um.

(Schenck et al., 2003)

Expression of Fmr1^EP3517 under the control of Scer\GAL4^GMR.PF results in a very mild rough eye phenotype.

(Shulman and Feany, 2003)

Flies show no visible phenotypic abnormalities. When expression is driven by Scer\GAL4^tim.PE, flies show arrhythmicity and period lengthening in a Scer\GAL4^tim.PE-dependent manner.

(Dockendorff et al., 2002)

Mutants show a fibre extension defect in the DC and LNv neurons. Extension of DC axons from the lobula to the medulla is incomplete, some axons show guidance errors. LNv neurons may over extend, show guidance defects or show aberrant morphology. The LVn defects are less consistent than those in the DC neurons. Stereotypical grid-like array of neurites entering the medulla is disrupted in mutant flies - short and thin branches fail to connect. This occurs even for neurons that do cross towards the distal medulla. Homozygotes show only 79.5% of expected eclosion from pupal case.

(Morales et al., 2002)

Mutants show no morphological defects. When tested for bang sensitivity, temperature sensitivity and phototaxis there is no detectable difference between wild type and mutant. However there are defects in coordination in a simple flight test. When expression is driven by Scer\GAL4^hs.2sev a mild rough eye phenotype results.

(Zhang et al., 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Fmr1^EP3517 has abnormal neuroanatomy | larval stage phenotype, suppressible by RanBPM^k05201/l(2)k05201[+]

(Scantlebury et al., 2010)

Fmr1^EP3517, Scer\GAL4^elav-C155 has abnormal neuroanatomy phenotype, suppressible | partially by Cyfip^EP3267, Scer\GAL4^elav-C155

(Schenck et al., 2004)

NOT suppressed by

Statement

Reference

Fmr1^EP3517, Scer\GAL4^elav-C155 has abnormal neuroanatomy phenotype, non-suppressible by Hem^UAS.cHa, Scer\GAL4^elav-C155

(Schenck et al., 2004)

Fmr1^EP3517, Scer\GAL4^elav-C155 has abnormal neuroanatomy phenotype, non-suppressible by SCAR^UASp.cZa, Scer\GAL4^elav-C155

(Schenck et al., 2004)

Enhancer of

Statement

Reference

Fmr1^EP3517, Scer\GAL4^GMR.PF is an enhancer of visible phenotype of Hsap\MAPT^V337M.UAS, Scer\GAL4^GMR.PF

(Shulman and Feany, 2003)

Scer\GAL4^pnr-MD237/Fmr1^EP3517 is an enhancer of visible phenotype of pnr^MD237

(Pena-Rangel et al., 2002)

NOT Enhancer of

Statement

Reference

Fmr1^EP3517, Scer\GAL4^GMR.PF is a non-enhancer of visible phenotype of Hsap\ATXN1^82.UAS, Scer\GAL4^GMR.PF

(Shulman and Feany, 2003)

NOT Suppressor of

Statement

Reference

Fmr1^EP3517, Scer\GAL4^GMR.PF is a non-suppressor of visible phenotype of Hsap\ATXN1^82.UAS, Scer\GAL4^GMR.PF

(Shulman and Feany, 2003)

Phenotype Manifest In

Enhanced by

Statement

Reference

Fmr1^EP3517, Scer\GAL4^GMR.PF has ommatidium phenotype, enhanceable by Cyfip^unspecified

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^elav-C155 has synapse phenotype, enhanceable by Cyfip^unspecified

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Cyfip^unspecified, Scer\GAL4^GMR.PF

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Rac1^V12.UAS, Scer\GAL4^GMR.PF

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^GMR.PF has ommatidium phenotype, enhanceable by Rac1^V12.UAS, Scer\GAL4^GMR.PF

(Schenck et al., 2003)

Suppressed by

Statement

Reference

Fmr1^EP3517 has embryonic/larval neuromuscular junction phenotype, suppressible by RanBPM^k05201/l(2)k05201[+]

(Scantlebury et al., 2010)

Fmr1^EP3517 has NMJ bouton phenotype, suppressible by RanBPM^k05201/l(2)k05201[+]

(Scantlebury et al., 2010)

Fmr1^EP3517, Scer\GAL4^elav-C155 has neuromuscular junction & synapse phenotype, suppressible | partially by Cyfip^EP3267, Scer\GAL4^elav-C155

(Schenck et al., 2004)

Fmr1^EP3517, Scer\GAL4^GMR.PF has eye phenotype, suppressible | partially by Cyfip^EP3267, Scer\GAL4^GMR.PF

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^GMR.PF has ommatidium phenotype, suppressible | partially by Cyfip^EP3267, Scer\GAL4^GMR.PF

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^elav-C155 has synapse phenotype, suppressible | partially by Cyfip^EP3267, Scer\GAL4^elav-C155

(Schenck et al., 2003)

NOT suppressed by

Statement

Reference

Fmr1^EP3517, Scer\GAL4^elav-C155 has neuromuscular junction & synapse phenotype, non-suppressible by Hem^UAS.cHa, Scer\GAL4^elav-C155

(Schenck et al., 2004)

Fmr1^EP3517, Scer\GAL4^elav-C155 has neuromuscular junction & synapse phenotype, non-suppressible by SCAR^UASp.cZa, Scer\GAL4^elav-C155

(Schenck et al., 2004)

Enhancer of

Statement

Reference

Fmr1^EP3517, Scer\GAL4^GMR.PF is an enhancer of eye phenotype of Rac1^V12.UAS, Scer\GAL4^GMR.PF

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^GMR.PF is an enhancer of ommatidium phenotype of Rac1^V12.UAS, Scer\GAL4^GMR.PF

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^GMR.PF is an enhancer of eye phenotype of Hsap\MAPT^V337M.UAS, Scer\GAL4^GMR.PF

(Shulman and Feany, 2003)

Fmr1^EP3517, Scer\GAL4^GMR.PF is an enhancer of ommatidium phenotype of Hsap\MAPT^V337M.UAS, Scer\GAL4^GMR.PF

(Shulman and Feany, 2003)

Scer\GAL4^pnr-MD237/Fmr1^EP3517 is an enhancer of chaeta phenotype of pnr^MD237

(Pena-Rangel et al., 2002)

NOT Enhancer of

Statement

Reference

Fmr1^EP3517, Scer\GAL4^GMR.PF is a non-enhancer of eye phenotype of Hsap\ATXN1^82.UAS, Scer\GAL4^GMR.PF

(Shulman and Feany, 2003)

NOT Suppressor of

Statement

Reference

Fmr1^EP3517, Scer\GAL4^GMR.PF is a non-suppressor of eye phenotype of Hsap\ATXN1^82.UAS, Scer\GAL4^GMR.PF

(Shulman and Feany, 2003)

Other

Statement

Reference

Cyfip^unspecified, Fmr1^EP3517, Scer\GAL4^GMR.PF has eye phenotype

(Schenck et al., 2003)

Cyfip^unspecified, Fmr1^EP3517, Scer\GAL4^GMR.PF has ommatidium phenotype

(Schenck et al., 2003)

Fmr1^EP3517, Scer\GAL4^pnr-MD237, pnr^MD237/pnr[+] has macrochaeta phenotype

(Pena-Rangel et al., 2002)

Fmr1^EP3517, Scer\GAL4^pnr-MD237, pnr^MD237/pnr[+] has scutellum phenotype

(Pena-Rangel et al., 2002)

Fmr1^EP3517, Scer\GAL4^pnr-MD237, pnr^MD237 has macrochaeta phenotype

(Pena-Rangel et al., 2002)

Fmr1^EP3517, Scer\GAL4^pnr-MD237, pnr^MD237 has scutellum phenotype

(Pena-Rangel et al., 2002)

Additional Comments

Genetic Interactions

Statement

Reference

The increased number of branches and of boutons at the neuromuscular junction of Fmr1^EP3517 larvae is significantly suppressed by RanBPM^k05201/+.

(Scantlebury et al., 2010)

Fmr1^EP3517/+; Dp(2;2)C619/+ brains show no ectopic branches on the small LNv projections and posterior tract defasciculation is no higher than in Dp(2;2)C619/+ single heterozygotes.

(Reeve et al., 2005)

The reduced synaptic length seen at the neuromuscular junction in larvae expressing Fmr1^EP3517 under the control of Scer\GAL4^elav-C155 is not suppressed by co-expression of either Hem^Scer\UAS.cHa or SCAR^{Scer\UAS.P\T.cZa}. The reduced synaptic length seen at the neuromuscular junction in larvae expressing Fmr1^EP3517 under the control of Scer\GAL4^elav-C155 is partially suppressed by co-expression of Sra-1^EP3267.

(Schenck et al., 2004)

The combination of heterozygous Sra-1^unspecified and Fmr1^EP3517 (driven by Scer\GAL4^GMR.PF) gives a strong eye phenotype, stronger than Scer\GAL4^GMR.PF driven by Scer\GAL4^GMR.PF. Eyes are of reduced size and contain areas lacking in ommatidia.

(Schenck et al., 2003)

pnr^MD237/+ adults expressing Fmr1^EP3517 under the control of Scer\GAL4^pnr-MD237 have a deformed scutellum and several deformed macrochaetae.

(Pena-Rangel et al., 2002)

Xenogenetic Interactions

Statement

Reference

The rough eye phenotype caused by expression of Hsap\MAPT^{V337M.Scer\UAS} under the control of Scer\GAL4^GMR.PF is enhanced by Fmr1^EP3517.

(Shulman and Feany, 2003)

Complementation and Rescue Data

Rescued by

Fmr1^EP3517 is rescued by Fmr1^+mIa

(Reeve et al., 2005)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

6928

w¹¹¹⁸; P{EP}EP3517 Fmr1^EP3517/TM6B, Tb⁺

Notes on Origin

Discoverer

Selected as: a P{EP} insertion line that modifies the pnr^MD237/+ phenotype when expressed using Scer\GAL4^pnr-MD237.

(Pena-Rangel et al., 2002)

Comments

Precise excision of the P{EP} element reverts the modifying effect of Fmr1^EP3517 on the rough eye phenotype caused by expression of Hsap\MAPT^{V337M.Scer\UAS} under the control of Scer\GAL4^GMR.PF.

(Shulman and Feany, 2003)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

EP3517

(Yao et al., 2011)

Fmr1^EP3517

(Bushey et al., 2009)

fmr1^EP3517

(Scantlebury et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (18)

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