Allele Dmel\Fmr1^EP3517

General Information
Symbol	Dmel\Fmr1^EP3517	Species	D. melanogaster
Name		FlyBase ID	FBal0131029
Feature type	allele	Associated gene	Dmel\Fmr1

Map ( GBrowse )	Untitled Document
Allele class	hypomorphic allele - genetic evidence
Mutagen	P-element activity
Recent Updates
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FB2013_03
FB2013_02
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Nature of the Allele
Allele class	hypomorphic allele - genetic evidence (Zhang et al., 2001, Morales et al., 2002, Michel et al., 2004, Reeve et al., 2005, Bushey et al., 2009)
Mutagen	P-element activity (Gene Disruption Project members, 2001-, Zhang et al., 2001, Pena-Rangel et al., 2002, Morales et al., 2002, Dockendorff et al., 2002, Schenck et al., 2003)
Mutations Mapped to the Genome

Type Location Additional Notes References transposable element insertion site 3R:5,935,594..5,935,594 (Gene Disruption Project members, 2001-, Reeve et al., 2005, Schenck et al., 2003, Pena-Rangel et al., 2002, Zhang et al., 2001, Dockendorff et al., 2002, Morales et al., 2002, Shulman and Feany, 2003, Xu et al., 2004, Schenck et al., 2004, Pan et al., 2004, Michel et al., 2004, Reeve et al., 2008)
Associated Sequence Data
DDBJ / EMBL / GenBank	DNA sequence Protein sequence Name

UniProtKB/Swiss-Prot
UniProtKB/TrEMBL

Progenitor genotype
Nature of the lesion	Statement Reference 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)
Caused by insertion	P{EP}Fmr1^EP3517 (Gene Disruption Project members, 2001-, Reeve et al., 2005, Schenck et al., 2003, Pena-Rangel et al., 2002, Zhang et al., 2001, Dockendorff et al., 2002, Morales et al., 2002, Shulman and Feany, 2003, Xu et al., 2004, Schenck et al., 2004, Pan et al., 2004, Michel et al., 2004, Reeve et al., 2008)
Cytology
Phenotypic Data
Phenotypic Class
	fertile, with Scer\GAL4[-]: (Dockendorff et al., 2002) flight defective (with Df(3R)by62), with Scer\GAL4[-]: (Zhang et al., 2001) lethal, with Scer\GAL4^αTub84B.PL (Lee et al., 2003) lethal \| partially \| pharate adult stage, with Scer\GAL4[-]: (Morales et al., 2002) lethal \| pharate adult stage (Scantlebury et al., 2010) locomotor rhythm defective, with Scer\GAL4^tim.PE (Dockendorff et al., 2002) neuroanatomy defective (Michel et al., 2004) neuroanatomy defective, with Scer\GAL4^elav-C155 (Schenck et al., 2004) neuroanatomy defective, with Scer\GAL4^P2.4.Pdf (Reeve et al., 2008) neuroanatomy defective (with Fmr1^Δ113M) (Morales et al., 2002) neuroanatomy defective (with Fmr1^Δ113M), with Scer\GAL4[-]: (Morales et al., 2002) neuroanatomy defective \| larval stage (Scantlebury et al., 2010) neuroanatomy defective \| recessive, with Scer\GAL4[-]: (Reeve et al., 2005) viable, with Scer\GAL4[-]: (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
	dorsal cluster neuron (with Fmr1^Δ113M) (Morales et al., 2002) dorsal cluster neuron & neurite (with Fmr1^Δ113M), with Scer\GAL4[-]: (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, with Scer\GAL4[-]: (Reeve et al., 2005) LNv neuron, with Scer\GAL4^P2.4.Pdf (Reeve et al., 2008) LNv neuron (with Fmr1^Δ113M), with Scer\GAL4[-]: (Morales et al., 2002) mushroom body (Michel et al., 2004) mushroom body alpha-lobe (Michel et al., 2004) mushroom body beta-lobe (Michel et al., 2004) 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, with Scer\GAL4[-]: (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 the genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement Reference Fmr1^EP3517, Scer\GAL4^elav-C155 has neuroanatomy defective phenotype, suppressible \| partially by Sra-1^EP3267, Scer\GAL4^elav-C155 (Schenck et al., 2004) Fmr1^EP3517 has neuroanatomy defective \| larval stage phenotype, suppressible by RanBPM^k05201/l(2)k05201[+] (Scantlebury et al., 2010)
NOT suppressed by
Statement Reference Fmr1^EP3517, Scer\GAL4^elav-C155 has neuroanatomy defective phenotype, non-suppressible by Hem^Scer\UAS.cHa, Scer\GAL4^elav-C155 (Schenck et al., 2004) Fmr1^EP3517, Scer\GAL4^elav-C155 has neuroanatomy defective phenotype, non-suppressible by SCAR^{Scer\UAS.P\T.cZa}, Scer\GAL4^elav-C155 (Schenck et al., 2004)
Enhancer of
Statement Reference Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF is an enhancer of visible phenotype of Hsap\MAPT^{V337M.Scer\UAS}, Scer\GAL4^GMR.PF/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/Scer\GAL4^GMR.PF is a non-enhancer of visible phenotype of Hsap\ATXN1^82.Scer\UAS, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Shulman and Feany, 2003)
NOT Suppressor of
Statement Reference Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF is a non-suppressor of visible phenotype of Hsap\ATXN1^82.Scer\UAS, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Shulman and Feany, 2003)
Phenotype Manifest In
Enhanced by
Statement Reference Fmr1^EP3517, Scer\GAL4^elav-C155 has synapse phenotype, enhanceable by Sra-1^unspecified (Schenck et al., 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Rac1^V12.Scer\UAS, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Schenck et al., 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Sra-1^unspecified, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Schenck et al., 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF has ommatidium phenotype, enhanceable by Rac1^V12.Scer\UAS, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Schenck et al., 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF has ommatidium phenotype, enhanceable by Sra-1^unspecified (Schenck et al., 2003)
Suppressed by
Statement Reference Fmr1^EP3517, Scer\GAL4^elav-C155 has neuromuscular junction & synapse phenotype, suppressible \| partially by Sra-1^EP3267, Scer\GAL4^elav-C155 (Schenck et al., 2004) Fmr1^EP3517, Scer\GAL4^elav-C155 has synapse phenotype, suppressible \| partially by Sra-1^EP3267, Scer\GAL4^elav-C155 (Schenck et al., 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF has eye phenotype, suppressible \| partially by Sra-1^EP3267, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Schenck et al., 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF has ommatidium phenotype, suppressible \| partially by Sra-1^EP3267, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Schenck et al., 2003) 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)
NOT suppressed by
Statement Reference Fmr1^EP3517, Scer\GAL4^elav-C155 has neuromuscular junction & synapse phenotype, non-suppressible by Hem^Scer\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^{Scer\UAS.P\T.cZa}, Scer\GAL4^elav-C155 (Schenck et al., 2004)
Enhancer of
Statement Reference Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF is an enhancer of eye phenotype of Hsap\MAPT^{V337M.Scer\UAS}, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Shulman and Feany, 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF is an enhancer of eye phenotype of Rac1^V12.Scer\UAS, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Schenck et al., 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF is an enhancer of ommatidium phenotype of Hsap\MAPT^{V337M.Scer\UAS}, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Shulman and Feany, 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF is an enhancer of ommatidium phenotype of Rac1^V12.Scer\UAS, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Schenck et al., 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/Scer\GAL4^GMR.PF is a non-enhancer of eye phenotype of Hsap\ATXN1^82.Scer\UAS, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Shulman and Feany, 2003)
NOT Suppressor of
Statement Reference Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF is a non-suppressor of eye phenotype of Hsap\ATXN1^82.Scer\UAS, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF (Shulman and Feany, 2003)
Other
Statement Reference Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF, Sra-1^unspecified has eye phenotype (Schenck et al., 2003, Schenck et al., 2003) Fmr1^EP3517, Scer\GAL4^GMR.PF/Scer\GAL4^GMR.PF, Sra-1^unspecified has ommatidium phenotype (Schenck et al., 2003, 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 & Rescue Data
Rescued by	Fmr1^EP3517 is rescued by Fmr1^+mIa/Scer\GAL4[-] (Reeve et al., 2005)
Comments
Stocks ( 1 )
Bloomington	6928 w¹¹¹⁸; P{EP}Fmr1^EP3517
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 & Linkouts
Other Crossreferences

Linkouts

Synonyms & Secondary IDs ( 3 )
Reported As
Symbol Synonym	Fmr1^EP3517 (Bushey et al., 2009) fmr1^EP3517 (Scantlebury et al., 2010) unnamed (Rusch et al., 2002)
Name Synonym
Secondary FlyBase IDs

References ( 17 )
Research paper	Scantlebury et al., 2010, PLoS ONE 5(5): e10652 The Drosophila Gene RanBPM Functions in the Mushroom Body to Regulate Larval Behavior. [FBrf0210838] Bushey et al., 2009, J. Neurosci. 29(7): 1948--1961 The Drosophila fragile X mental retardation gene regulates sleep need. [FBrf0206670] Reeve et al., 2008, J. Neurosci. 28(12): 3221--3226 Mutational analysis establishes a critical role for the N terminus of fragile X mental retardation protein FMRP. [FBrf0204382] Reeve et al., 2005, Curr. Biol. 15(12): 1156--1163 The Drosophila fragile X mental retardation protein controls actin dynamics by directly regulating profilin in the brain. [FBrf0187329] Michel et al., 2004, J. Neurosci. 24(25): 5798--5809 Defective neuronal development in the mushroom bodies of Drosophila Fragile X Mental Retardation 1 Mutants. [FBrf0179339] Pan et al., 2004, Curr. Biol. 14(20): 1863--1870 The Drosophila fragile X gene negatively regulates neuronal elaboration and synaptic differentiation. [FBrf0180069] Schenck et al., 2004, Dev. Biol. 274(2): 260--270 WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. [FBrf0179776] Xu et al., 2004, Curr. Biol. 14(12): 1025--1034 The fragile X-related gene affects the crawling behavior of Drosophila larvae by regulating the mRNA level of the DEG/ENaC protein pickpocket1. [FBrf0179520] Lee et al., 2003, Development 130(22): 5543--5552 Control of dendritic development by the Drosophila fragile X-related gene involves the small GTPase Rac1. [FBrf0167501] Schenck et al., 2003, Neuron 38(6): 887--898 CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. [FBrf0160918] Shulman and Feany, 2003, Genetics 165(3): 1233--1242 Genetic modifiers of tauopathy in Drosophila. [FBrf0167629] Dockendorff et al., 2002, Neuron 34(6): 973--984 Drosophila Lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. [FBrf0149143] Morales et al., 2002, Neuron 34(6): 961--972 Drosophila Fragile X protein, DFXR, regulates neuronal morphology and function in the brain. [FBrf0149142] Pena-Rangel et al., 2002, Genetics 160(3): 1035--1050 A misexpression study examining dorsal thorax formation in Drosophila melanogaster. [FBrf0147055] Zhang et al., 2001, Cell 107(5): 591--603 Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. [FBrf0141416]
Personal communication to FlyBase	Gene Disruption Project members, 2001-, (Computer file) (Computer file) [FBrf0132177]
Abstract	Rusch et al., 2002, A. Dros. Res. Conf. 43: 708C A screen for abl-interacting genes in axon pathfinding. [FBrf0146369]

Allele Dmel\Fmr1EP3517

Allele Dmel\Fmr1^EP3517