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General Information
Symbol
Dmel\Fmr1Δ113M
Species
D. melanogaster
Name
FlyBase ID
FBal0131035
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dfmr1Δ113, Fmr1Δ113, dfmr1delta113, Fmr1D113M
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

Deletion removing P{EP} and flanking DNA including the 5' non coding exons and the first two coding exons of the Fmr1 gene.

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
is ameliorated by witA12
is ameliorated by witB11
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In

dorsal cluster neuron & neurite

dorsal cluster neuron & neurite (with Fmr1EP3517), with Scer\GAL4- :

dorsal cluster neuron & neurite (with Fmr1Δ50M)

ventral adult lateral neuron & commissure

Detailed Description
Statement
Reference

Fmr1Δ113M adult heterozygotes do not display any locomotor defects in a climbing assay.

Fmr1Δ113M/Fmr1B55 transheterozygotes present severe decreases in smell perception in both attraction and aversion olfactory assays, as compared to controls. Fmr1Δ113M/Fmr1B55 transheterozygotes also exhibit the following defects in olfactory lobe glomeruli activity (detected by calcium imaging experiments), despite lacking any obvious morphological defects in the glomeruli or in the associated projection neurons, as compared to controls: a significant decrease in inhibitory odor response and a reciprocal significant increase in excitatory odor response (namely to weak excitatory stimuli), a decreased specificity in odor encoding as shown by significant decreases in both Cosine and Euclidean distances between odor pairs, a broader response profile to odors, shown by a significant decrease in lifetime and population sparseness, a significant decrease in the probability of response to background, a significant increase in the correlation between glomerular odor response profile and physical distance between glomeruli in antennal lobes, and a significant decrease in odor mixture-related lateral suppression and reciprocal increase in odor mixture-related lateral excitation of glomeruli.

Fmr1Δ113M/+ third instar larvae have a significant increase in the number of mature boutons and an increase in branching at the neuromuscular junction (muscle 6/7 in segment A3), compared to controls.

Fmr1Δ113M homozygotes are near lethal and display fertility defects; Fmr1Δ113M/Fmr1Δ50M transheterozygotes are male sterile and female semi-fertile.

Fmr1Δ113M heterozygotes or homozygotes, and Fmr1Δ50M/Fmr1Δ113M transheterozygotes present crystalline aggregates (of Stellate protein) in spermatocytes, which are absent in wild-type controls. Fmr1Δ113M homozygotes also display a significant increase in the length of third instar larval neuromuscular junctions, as compared to controls.

Homozygotes are viable and do not display obvious growth phenotypes.

Fmr1Δ113M mutant eyes, generated by eyFLP/FRT-mediated mitotic recombination, do not show an increase in ommatidial number.

Fmr1Δ50M/Fmr1Δ113M adults sleep significantly longer each day than wild-type controls.

Transheterozygosity to Fmr1R47C.EP3517, Fmr1E68K.EP3517, Fmr1L186H.EP3517, Fmr1G269E.EP3517, Fmr1R279C.EP3517, or Fmr1R115C.EP3517, or in homozygosity, 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 15% of Fmr1Δ113M adult brains. The posterior tract of the LNv neurons shows a defasciculation phenotype in 69% of brains. Fmr1Δ113M/+ brains do not show the collateral branch phenotype and only 8% show the posterior tract defasciculation phenotype. Fmr1Δ113M brains show increased dorso-ventral and medio-lateral extension from the LNv.

17% of Fmr1Δ113M/+ flies have arrhythmic locomotor activity.

Homozygous Fmr1Δ113M mutants exhibit reduced viability (~78%) compared to balancer siblings. Ninety percent of Fmr1Δ113M mutants attempt eclosion, with ~80% succeeding, which is slightly better than the developmental performance of their balancer siblings. The developmental rate of Fmr1Δ113M mutants is normal, while most of the mutants examined during metamorphosis are alive and healthy.

Slightly over 70% of homozygous Fmr1Δ113M 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). The rest 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.

γ-neurons in Fmr1Δ113M homozygous mutant mushroom bodies do not cross the midline. Retraction of vertical and medial branches of γ-neurons occurs on schedule and to its full extent in young mutant pupae. Given the normal midline phenotype of mutant larval and young pupal γ neurons, the late-stage β-lobe midline-crossing phenotype cannot be blamed on faulty γ-neuron morphology earlier in development.

Fmr1Δ113M heterozygotes exhibit wild-type β-lobe morphology.

Slightly over 70% of transheterozygote Fmr13/Fmr1Δ113M mutants exhibit severe midline crossing in the β-lobe of the mushroom body. Just under 10% of these mutants 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).

Approximately 95% of transheterozygous Fmr1Δ83M/Fmr1Δ113M 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). The rest appear phenotypically normal. No sexual dimorphism in penetrance or expressivity is found.

Approximately just over 70% of transheterozygous Fmr1Δ50M/Fmr1Δ113M 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). The rest appear phenotypically normal. No sexual dimorphism in penetrance or expressivity is found.

Approximately 10% of Fmr1Δ50M/Fmr1Δ113M transheterozygotes display misdirecting or missing α lobes.

In over 25% of cases, transheterozygous Fmr1Δ83M/Fmr1Δ113M mutants exhibit misdirected or missing α-lobes.

Mutant synapses in third instar larvae exhibit overgrowth.

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 0.86% of expected eclosion from pupal case. Rhythmicity (measured by activity) is at best weak and erratic. Some homozygotes are statistically arrhythmic. Eclosion rhythm maintains its periodicity but is phase shifted late with respect to wild type by 6-8hrs.

Mutants show no morphological defects. When tested for bang sensitivity, temperature sensitivity and phototaxis there is no detectable difference between wild type and mutant.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference

Fmr1Δ113M has neuroanatomy defective phenotype, enhanceable by Rac1J11/Rac1[+]

Suppressed by
Statement
Reference

Fmr1Δ50M/Fmr1Δ113M has sterile phenotype, suppressible by aubsting-1/aub[+]

Fmr1Δ113M has male semi-fertile phenotype, suppressible | partially by aubsting-1/aub[+]

Fmr1Δ113M has neuroanatomy defective phenotype, suppressible by chic[+]/chic221

Enhancer of
Statement
Reference
Suppressor of
Statement
Reference
Other
Phenotype Manifest In
Enhanced by
Statement
Reference

Fmr1Δ113M has ventral adult lateral neuron & commissure phenotype, enhanceable by Dp(2;2)C619/+

Fmr1Δ113M has ventral adult lateral neuron & commissure phenotype, enhanceable by Rac1J11/Rac1[+]

Fmr1Δ113M has LNv neuron phenotype, enhanceable by Rac1J11/Rac1[+]

Suppressed by
Statement
Reference

Fmr1Δ113M has LNv neuron phenotype, suppressible by chic[+]/chic221

NOT suppressed by
Statement
Reference

Fmr1Δ113M has spermatocyte | spermatogenesis phenotype, non-suppressible by aub[+]/aubHN2

Fmr1Δ113M has spermatocyte | spermatogenesis phenotype, non-suppressible by aub[+]/aubQC42

Enhancer of
Statement
Reference

Fmr1Δ113M/Fmr1[+] is an enhancer of eye phenotype of Scer\GAL4GMR.PF, fruNP0021

Fmr1Δ113M/Fmr1[+] is an enhancer of ventral adult lateral neuron & commissure phenotype of Rac1J11

Fmr1Δ113M/Fmr1[+] is an enhancer of LNv neuron phenotype of Rac1J11

Suppressor of
Statement
Reference

Fmr1Δ113M/Fmr1[+] is a suppressor of eye phenotype of Nab2EP3716, Scer\GAL4GMR.PU

Other
Additional Comments
Genetic Interactions
Statement
Reference

The mushroom body α-lobe morphological defects characteristic for Fmr1Δ113M homozygous adults are ameliorated by combination with a single copy of Nab2ex3, whereas the reverse is true for Nab2ex3 homozygotes in which the combination with one copy of Fmr1Δ113M further worsens the α-lobe phenotype. The β-lobe fusion observed in either of the two homozygous mutants cannot be modified by heterozygosity of the other gene's allele.

The eye defects (reduced size, partial depigmentation and disorganization of the ommatidial lattice) observed in adult flies expressing Nab2EP3716 under the control of Scer\GAL4GMR.PU can be suppressed by combination with a single copy of Fmr1Δ113M, while this worsens the locomotion deficit (decreased climbing ability) of adult flies expressing Nab2GD11745 controlled by Scer\GAL4elav-C155.

witA12/+ significantly suppresses the increases in mature boutons and branch number seen at the neuromuscular junction of Fmr1Δ113M/+ third instar larvae (though bouton and branch number is significantly higher in Fmr1Δ113M/+;witA12/+ larvae than witA12/+ larvae). witA12/witB11 fully suppresses the increase in mature boutons and branch number seen at the neuromuscular junction of Fmr1Δ113M/+ third instar larvae (branch number is significantly higher in witA12/witB11 larvae than Fmr1Δ113M/+;witA12/witB11 larvae).

The following defects associated with Fmr1Δ113M are suppressed by aubsting-1 heterozygosity: the near lethality of Fmr1Δ113M homozygotes; the sterility of Fmr1Δ50M/Fmr1Δ113M transheterozygous males and the fertility defects of Fmr1Δ113M heterozygous or homozygous males and females; the crystalline aggregates observed in the spermatocytes of Fmr1Δ113M heterozygotes and homozygotes; and the increased length of third instar larval neuromuscular junctions of Fmr1Δ113M homozygotes.

The crystalline aggregates observed in the spermatocytes of Fmr1Δ113M heterozygotes are also suppressed by the expression of aubScer\UAS.cBa under the control of Scer\GAL4nos.PU, Scer\GAL4T76, Scer\GAL4c135 or Scer\GAL4upd1.PU, but not by heterozygosity for aubHN2 or aubQC42, nor by the combination of aubHN2 heterozygosity and expression of aubScer\UAS.cBa under the control of Scer\GAL4upd1.PU.

Most rin2 Fmr1Δ113M double homozygous larvae die at an early stage, but a few escapers that reach the early pupal stage form long, slender pupae.

rinNP3248/rin2, Fmr1Δ113M/Fmr1Δ50M animals reach a late pupal stage - pupae are long and slender.

rinNP5420/rin2, Fmr1Δ113M/Fmr1Δ50M animals develop into adult flies that die soon after eclosion - pupae are long and slender.

rinT:Disc\RFP-mCherry rescues the slender pupae phenotype and lethality associated with rinNP3248/rin2, Fmr1Δ113M/Fmr1Δ50M animals.

rinT:Disc\RFP-mCherry rescues the slender pupae phenotype and lethality associated with rinNP5420/rin2, Fmr1Δ113M/Fmr1Δ50M animals.

rin2 Fmr1Δ113M double mutant eyes, generated by eyFLP/FRT-mediated mitotic recombination, show an increase in ommatidial number under normal food conditions.

rin2 Fmr1Δ113M double mutant eyes, generated by eyFLP/FRT-mediated mitotic recombination, show an increase in ommatidial number under normal food conditions. (Double mutants raised on food with reduced yeast content display eyes with a constant increase in ommatidial number, while mutants raised on increased yeast content show more pronounced variability in ommatidial number.) This phenotype is rescued to a rin2 like phenotype by inclusion of Fmr1+t14, and to a Fmr1Δ113M-like phenotype by inclusion of rin+t11.8, while rinT:Disc\RFP-mCherry does not completely rescue to a Fmr1Δ113M-like phenotype.

Eyes overexpressing CaprKK100145 in a Fmr1Δ113M background, generated using the eyFLP Actin-Flp out-Gal4 system, are overgrown owing to more ommatidia compared to controls.

Animals with eyes overexpressing CaprKK100145 in a Fmr1Δ113M rin2 background, generated using the eyFLP Actin-Flp out-Gal4 system, results in late pupal lethality, with strongly overgrown eye/head structures visible in the pharates.

Eyes expressing ligdsRNA.Scer\UAS.II in a Fmr1Δ113M background, generated using the eyFLP Actin-Flp out-Gal4 system, are overgrown owing to more ommatidia compared to controls.

A Fmr1Δ113M background enhances the rough eye phenotype related to fru isoform B, found upon expression of fruNP0021 under the control of Scer\GAL4GMR.PF.

4.6% of ban12/Fmr1Δ113M transheterozygous adult females are fertile. ban12/Fmr1Δ113M double heterozygous adult females display a significant increase in the number of germaria with one or no germline stem cells, compared to controls, that progressively worsens from day 2 post-eclosion to day 12.

27% of Fmr1Δ113M/+; Dp(2;2)C619/+ double heterozygote brains show an ectopic collateral branch on the small LNv projections, while this phenotype is not seen in either single heterozygote. The posterior tract defasciculation phenotype phenotype is enhanced to a 91% penetrance in Fmr1Δ113M/+; Dp(2;2)C619/+ brains; the extent of defasciculation is greater in the double mutants and runs the entire length of the commissure. The penetrance of the increased LNv dorso-ventral and medio-lateral extension phenotype is higher in Fmr1Δ113M/+; Dp(2;2)C619/+ brains than in Fmr1Δ113M/+ brains. The penetrance of the LNv ectopic branch phenotype is increased to 100% and the posterior tract defasciculation phenotype is increased to 93% when Fmr1Δ113M/+ flies are also heterozygous for Rac1J11. The increased LNv dorso-ventral and medio-lateral extension phenotype is suppressed in Fmr1Δ113M brains that also carry a chic221/+ mutation.

The arrhythmic locomotor activity phenotype of Fmr1Δ113M/+ flies is completely suppressed in Fmr1Δ113M/+; Dp(2;2)C619/+ flies.

Xenogenetic Interactions
Statement
Reference

Animals with rin2 Fmr1Δ113M double mutant eyes over-expressing BacA\p35Scer\UAS.cHa via eyFLP, Actin-Flp out-Gal4/FRT-mediated mitotic recombination, die as pharate adults except a few escapers that display massively overgrown eye structures.

Complementation and Rescue Data
Partially rescued by
Comments

The decreased smell perception displayed by Fmr1Δ113M/Fmr1B55 transheterozygotes are rescued by Fmr1+mIa.

The expression of Fmr1Scer\UAS.cZa under the control of Scer\GAL4T76 rescues the lethality of Fmr1Δ113M homozygotes and suppresses the crystalline aggregates observed in the spermatocytes of Fmr1Δ113M homozygotes and heterozygotes; this expression also partially rescues the male sterility of Fmr1Δ50M/Fmr1Δ113M transheterozygotes, and partially rescues the decreased fertilities of Fmr1Δ50M/Fmr1Δ113M transheterozygous females.

The expression of Fmr1Scer\UAS.cZa under the control of Scer\GAL4c135, Scer\GAL4nos.PU, or Scer\GAL4upd1.PU suppresses the crystalline aggregates observed in the spermatocytes of Fmr1Δ113M heterozygotes.

The presence of a single copy of Fmr1+t14 to Fmr13/Fmr1Δ113M transheterozygotes greatly reduces the penetrance and expressivity of the β-lobe midline-crossing phenotype.

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Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (17)
References (24)