Dmel\P{EP}Fmr1^EP3517 Insertion

General Information
Symbol	Dmel\P{EP}Fmr1^EP3517	Species	D. melanogaster
Name		FlyBase ID	FBti0011630
Feature type	transposable_element_insertion_site
Description
Inserted element	P{EP}	Expression data
Affected gene(s)	Fmr1	Viability / fertility
Causes allele(s)	Fmr1^A158V.EP3517, Fmr1^E68K.EP3517, Fmr1^EP3517, Fmr1^G80D.EP3517, Fmr1^G220E.EP3517, Fmr1^G269E.EP3517, Fmr1^L186H.EP3517, Fmr1^Q378P.EP3517, Fmr1^R47C.EP3517, Fmr1^R115C.EP3517, Fmr1^R115H.EP3517, Fmr1^R279C.EP3517, Fmr1^S174F.EP3517, Fmr1^V354E.EP3517	Stock availability	1 publicly available
LINE ID	EP(3)3517
Genomic Location
Chromosomal location	3R ( 85F12 )	Sequence location	3R:5,935,594..5,935,594 [-]
Map ( GBrowse )
Member of Large Scale Dataset(s)
Dataset	TI_set_P{EP}.EP A set of transgenic insertion stocks derived by TE mobilization using the P-element construct P{EP}. The P{EP} construct construct carries a w[+mC] mini-white visible marker, Scer\UAS binding sites for the Scer\GAL4 transcriptional regulator, and bacterial sequences that allow plasmid rescue. The GAL4-UAS system allows regulated expression of genes proximate to the site of the insertion: genes properly oriented with respect to the Scer\UAS sequences can be conditionally expressed via transgene-derived Scer\GAL4 activity. Insertion lines from this collection were mapped and assessed for inclusion in the Gene Disruption Project collection; flanking sequence data were submitted to GenBank. (Rorth, 1996, Bellen et al., 2004)
Recent Updates
Description	What does this section display? This section contains items that were added to this record for each release. It currently only tracks new links between this FlyBase report and other FlyBase data classes (e.g. genes, references, stocks) or controlled vocabulary terms (e.g. GO, anatomy terms). What does this section not display? This section does not currently display links that were removed or gene model changes.
Update Feed	Click the icon below to subscribe to this FlyBase record and receive updates automatically through your feed reader.
FB2013_03
FB2013_02
All updates	Click here to see a list of all updates to this record from FB2010_08 and on.
Detailed Mapping Data
Chromosome (arm)
Sequence Location	3R:5,935,594..5,935,594 [-] (BDGP Project Members, 2000-)
Orientation
Cytological location (computed by FlyBase)	85F12 ( inferred by FlyBase from sequence location )
Cytological location (reported)	85F11-85F11 (reported as inferred from sequence location) (BDGP Project Members, 2000-) 85F12-85F13 (in situ hybridization reported) (BDGP Project Members, 1994-1999)
Comments concerning location
Sequence Data
Flanking sequence	AQ254726 (FlyBase, 1992-)
Inserted Element
Construct	P{EP}
Location-dependent role	mobile activating element (UASG) (Rorth, 1996)
Size	7.987Kb
Associated alleles	Scer\UAS^14x.hs TrlBR^cRa w^+mC
Molecular map
Affected Gene(s)
Insertion may affect gene	Fmr1 (BDGP Project Members, 2000-, Michel et al., 2004, Reeve et al., 2008)
Alleles and Phenotypes
Causes alleles	Fmr1^A158V.EP3517 (Reeve et al., 2008) Fmr1^E68K.EP3517 (Reeve et al., 2008) 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) Fmr1^G80D.EP3517 (Reeve et al., 2008) Fmr1^G220E.EP3517 (Reeve et al., 2008) Fmr1^G269E.EP3517 (Reeve et al., 2008) Fmr1^L186H.EP3517 (Reeve et al., 2008) Fmr1^Q378P.EP3517 (Reeve et al., 2008) Fmr1^R47C.EP3517 (Reeve et al., 2008) Fmr1^R115C.EP3517 (Reeve et al., 2008) Fmr1^R115H.EP3517 (Reeve et al., 2008) Fmr1^R279C.EP3517 (Reeve et al., 2008) Fmr1^S174F.EP3517 (Reeve et al., 2008) Fmr1^V354E.EP3517 (Reeve et al., 2008)

Lethality References lethal (Lee et al., 2003) lethal \| partially \| pharate adult stage (Morales et al., 2002) lethal \| pharate adult stage (Scantlebury et al., 2010) viable (Dockendorff et al., 2002, Zhang et al., 2001, Reeve et al., 2008)
Sterility References fertile (Dockendorff et al., 2002)
Phenotype Manifest In
	dorsal cluster neuron (Morales et al., 2002) dorsal cluster neuron & neurite (Morales et al., 2002) embryonic/larval neuromuscular junction (Scantlebury et al., 2010) eye (Schenck et al., 2003, Shulman and Feany, 2003, Zhang et al., 2001) LNv neuron (Reeve et al., 2005, Morales et al., 2002, Reeve et al., 2008) 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 (Schenck et al., 2004) NMJ bouton (Scantlebury et al., 2010) ommatidium (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) 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]; 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) Transheterozygosity to Fmr1[Δ113M], or overexpression by Scer\GAL4[P2.4.Pdf], result in a defasciculation phenotype of the termini of the LNv neuron\'s dorsal projections. (Reeve et al., 2008) Co-expression of Sra-1[Scer\UAS.cSa] does not suppress the defasciculation of LNv neurons caused by Scer\GAL4[P2.4.Pdf]; Fmr1[E68K.EP3517] Co-overexpression of Fmr1[E68K.EP3517] and Sra-1[Scer\UAS.cSa] using Scer\GAL4[elav.PU] results in a significant neuromuscular junction overgrowth phenotype. (Reeve et al., 2008) Transheterozygosity of Fmr1[R47C.EP3517] to Fmr1[Δ113M] results in a defasciculation phenotype of the termini of the LNv neuron\'s dorsal projections. (Reeve et al., 2008) Co-overexpression of Fmr1[R115H.EP3517] and Sra-1[Scer\UAS.cSa] using Scer\GAL4[elav.PU] results in a significant neuromuscular junction overgrowth phenotype. (Reeve et al., 2008) Co-overexpression of Fmr1[S174F.EP3517] and Sra-1[Scer\UAS.cSa] using Scer\GAL4[elav.PU] results in a significant neuromuscular junction overgrowth phenotype. (Reeve et al., 2008) Transheterozygosity to Fmr1[Δ113M] results in a defasciculation phenotype of the termini of the LNv neuron\'s dorsal projections. (Reeve et al., 2008) Overexpression of Fmr1[G220E.EP3517] by Scer\GAL4[P2.4.Pdf] results in a defect in defasciculation of the termini of the LNv neuron\'s dorsal projections. (Reeve et al., 2008) Transheterozygosity to Fmr1[Δ113M] result in a defasciculation phenotype of the termini of the LNv neuron\'s dorsal projections. Overexpression of Fmr1[G269E.EP3517] by Scer\GAL4[P2.4.Pdf] results in a defect in defasciculation of the termini of the LNv neuron\'s dorsal projections. (Reeve et al., 2008) Overexpression of Fmr1[V354E.EP3517] by Scer\GAL4[P2.4.Pdf] results in a defect in defasciculation of the termini of the LNv neuron\'s dorsal projections. (Reeve et al., 2008) Overexpression of Fmr1[Q378P.EP3517] by Scer\GAL4[P2.4.Pdf] results in a defect in defasciculation of the termini of the LNv neuron\'s dorsal projections. (Reeve et al., 2008) Transheterozygosity to Fmr1[Δ113M]results in a defasciculation phenotype of the termini of the LNv neuron\'s dorsal projections. (Reeve et al., 2008) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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)
Expression Data
Reporter Expression

Additional Information
Statement Reference

Marker for
Reflects expression of
Reporter construct used in assay
External Images
FlyView (LinkOut)
Data on Genetic Line
Line ID	EP(3)3517 (Gene Disruption Project members, 2001-)
Origin as a multiple insertion line
Progenitor(s) within the Genome

Related Aberration or Balancer
Aberration
Balancer
Stocks ( 1 )
Bloomington	6928 w¹¹¹⁸; P{EP}Fmr1^EP3517
Linkouts
Comments
	Location 3R:5935594-5935595 confirmed by FlyBase alignment of dbGSS accession AQ254726 to D. melanogaster arm Release_4 and heterochromatin Release_3.2b. Insertion orientation confirmed. (FlyBase, 2005) insertion of mobile activating element (BDGP Project Members, 1994-1999)
Synonyms & Secondary IDs
Reported As
Symbol Synonym	EP3517 (Reeve et al., 2008) P{EP}EP3517 (FlyBase, 1992-) P{EP}Fmr1^EP3517 (FlyBase, 2005, FlyBase, 1992-, ) P^EP3517 (Michel et al., 2004) UAS-dFMR1 (Schenck et al., 2004)
Secondary FlyBase IDs

References ( 23 )

Generate a list of	All references relating to this insertion ( 23 )

List References by type	Research paper ( 17 ) Personal communication to FlyBase ( 3 ) FlyBase analysis ( 3 )
Recent research papers (0)
	All research papers listed in FlyBase were published before 2011 Show research papers ...

Dmel\P{EP}Fmr1EP3517 Insertion

Dmel\P{EP}Fmr1^EP3517 Insertion