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General Information
Symbol
Dmel\Fmr1EP3517
Species
D. melanogaster
Name
FlyBase ID
FBal0131029
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
EP3517
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

P{EP}Fmr1EP3517 is inserted into the second exon of Fmr1, which encodes 5'-untranslated region sequences.

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

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

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

Insertion components
P{EP}EP3517
Product class / Tool use(s)
Encoded product / tool
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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
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.

Fmr1EP3517; Scer\GAL4n-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 Fmr1EP3517 is combined with Scer\GAL430Y, Scer\GAL4Tab2-201Y or Scer\GAL4238Y but not Scer\GAL4c309. Reduced sleep and waking activity is also seen in Fmr1EP3517 is combined with Scer\GAL4elav.Switch.PO in the presence of RU486.

Fmr1Δ50M/Fmr1EP3517 adults sleep significantly longer per day than wild-type, although the effect is more subtle than in Fmr1Δ50M homozygotes and is more pronounced in females than in males. Fmr1EP3517/+ females also sleep significantly longer than wild-type.

Overexpression by Scer\GAL4P2.4.Pdf results in a defasciculation phenotype of the termini of the LNv neuron's dorsal projections.

An ectopic collateral branch is observed on the small LNv projections in 6% of Fmr1EP3517 adult brains. The posterior tract of the LNv neurons shows a defasciculation phenotype in 22% of Fmr1EP3517 brains. These phenotypes are not observed in Fmr1EP3517/+ brains.

Slightly over 60% of homozygous Fmr1EP3517 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 Fmr1EP3517 mutants exhibit misdirected or missing α-lobes in approximately 10% of cases.

Larvae expressing Fmr1EP3517 under the control of Scer\GAL4elav-C155 have significantly shorter synapses at the neuromuscular junction (70.0 +/- 3.6 μm) compared to wild-type larvae (111.1 μm).

Fmr1EP3517 driven by Scer\GAL4GMR.PF affects eye morphology - ommatidia are misorganised. When Fmr1EP3517 is driven by Scer\GAL4elav-C155 synaptic undergrowth is seen. The average synaptic length decreases from 105um in wild-type to 70um.

Expression of Fmr1EP3517 under the control of Scer\GAL4GMR.PF results in a very mild rough eye phenotype.

Flies show no visible phenotypic abnormalities. When expression is driven by Scer\GAL4tim.PE, flies show arrhythmicity and period lengthening in a Scer\GAL4tim.PE-dependent manner.

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.

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\GAL4hs.2sev a mild rough eye phenotype results.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Enhanced by
Suppressed by
NOT suppressed by
Statement
Reference

Fmr1EP3517, Scer\GAL4elav-C155 has neuromuscular junction & synapse phenotype, non-suppressible by HemUAS.cHa, Scer\GAL4elav-C155

Fmr1EP3517, Scer\GAL4elav-C155 has neuromuscular junction & synapse phenotype, non-suppressible by SCARUASp.cZa, Scer\GAL4elav-C155

Enhancer of
NOT Enhancer of
NOT Suppressor of
Other
Additional Comments
Genetic Interactions
Statement
Reference

The increased number of branches and of boutons at the neuromuscular junction of Fmr1EP3517 larvae is significantly suppressed by RanBPMk05201/+.

Fmr1EP3517/+; 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.

The reduced synaptic length seen at the neuromuscular junction in larvae expressing Fmr1EP3517 under the control of Scer\GAL4elav-C155 is not suppressed by co-expression of either HemScer\UAS.cHa or SCARScer\UAS.P\T.cZa. The reduced synaptic length seen at the neuromuscular junction in larvae expressing Fmr1EP3517 under the control of Scer\GAL4elav-C155 is partially suppressed by co-expression of Sra-1EP3267.

The combination of heterozygous Sra-1unspecified and Fmr1EP3517 (driven by Scer\GAL4GMR.PF) gives a strong eye phenotype, stronger than Scer\GAL4GMR.PF driven by Scer\GAL4GMR.PF. Eyes are of reduced size and contain areas lacking in ommatidia.

pnrMD237/+ adults expressing Fmr1EP3517 under the control of Scer\GAL4pnr-MD237 have a deformed scutellum and several deformed macrochaetae.

Xenogenetic Interactions
Statement
Reference

The rough eye phenotype caused by expression of Hsap\MAPTV337M.Scer\UAS under the control of Scer\GAL4GMR.PF is enhanced by Fmr1EP3517.

Complementation and Rescue Data
Rescued by

Fmr1EP3517 is rescued by Fmr1+mIa/Scer\GAL4[-]

Comments
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer

Selected as: a P{EP} insertion line that modifies the pnrMD237/+ phenotype when expressed using Scer\GAL4pnr-MD237.

Comments
Comments

Precise excision of the P{EP} element reverts the modifying effect of Fmr1EP3517 on the rough eye phenotype caused by expression of Hsap\MAPTV337M.Scer\UAS under the control of Scer\GAL4GMR.PF.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (18)