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General Information
Symbol
Dmel\dlg17
Species
D. melanogaster
Name
FlyBase ID
FBal0002676
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dlgXI-2, dlgX1-2, l(1)d.lg-1xi-2
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:
G11399741A
Reported nucleotide change:
G?A
Comment:
A new splice acceptor site, G to A transition, at the beginning of the exon causes a splicing defect that results in a 134bp insertion in the exon and a truncated protein.
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference
Molecular alteration of the protein (new splice acceptor site at the beginning of exon 9) causing a splicing defect that results in a 134bp insertion in exon 9 and a truncated protein.
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 ( 0 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference
There is a significant increase in the length of each pre-synaptic density at larval neuromuscular junctions (NMJs) in dlg17 homozygotes compared to wild-type. However, the thickness of the sub-synaptic reticulum at these NMJs is significantly decreased. Electrophysiological readings from the neuromuscular junctions of dlg17 homozygotes show significantly increased mini excitatory junction potential amplitude and significantly decreased evoked excitatory junction potential amplitude compared to controls. Together these indicate decreased quantal content.
Homozygotes show a severe decrease in the number of boutons at the neuromuscular junction compared to controls. The subsynaptic reticulum is less developed in the mutant boutons than in control boutons. The amplitude of the miniature and evoked excitatory junctional currents are reduced compared to controls in mutant animals. The frequency of the miniature excitatory junctional current and the quantal content are not significantly altered.
Mutants show defects at the larval neuromuscular junction (NMJ); boutons are enlarged and abnormal NMJ arbors are seen. There is a reduction in the subsynaptic reticulum and an increase in the number of active zones.
Follicle cells do not have an invasive phenotype in females with homozygous dlg17 clones in the germ cells and follicle cells.
Type Ib boutons at the neuromuscular junction appear bloated.
The subsynaptic reticulum at type I boutons is greatly reduced in hemizygous flies, such that it fails to surround the type I boutons or forms very few folds at the junctional region. There is an increase in the number of active zones within single type I boutons. The presynaptic terminal of type I boutons is larger in cross-sectional area in hemizygous flies compared to wild-type. The increased number of active zones is completely rescued if dlg1Scer\UAS.cBa is targeted to the presynaptic cell or simultaneously to both pre- and postsynaptic cells using Scer\GAL4unspecified. The presynaptic morphological phenotype is partially rescued if dlg1Scer\UAS.cBa is targeted only to the postsynaptic cell using Scer\GAL4unspecified.
Homozygous larval show overgrowth of the imaginal discs. Imaginal disc cells have apical junctions and exhibit normal apicobasal polarity.
Neoplastic imaginal disc overgrowth, affecting all discs. Discs implanted into wild type hosts for metamorphosis overgrow and do not differentiate. Mutant larvae grow at a normal rate until end of feeding period of last larval instar, when growth slows and then stops: they eventually reach double the weight of wild type pupariating larvae. Pupariation delay can be prevented by γ irradiation (destroying proliferating cells) shortly before hatching (Poodry and Woods, Wilhelm Roux's Arch 199:219--227 ). Ecdysteroid titer for all mutants fails to show peak that is associated with pupariation in the wild type. The ecdysteroid secretory activity of dlg1 and l(3)dco ring glands in vitro is 1/6 that of wild type. When overgrowth of the imaginal discs is prevented by γ irradiation the normal profile of ecdysteroid titers is restored, and ecdysteroid production from explanted ring glands is elevated.
Larval life prolonged by up to 14 days. Overgrown larvae show bloating and an increase in water content.
Clonal analysis shows small clones for dlg1 can produce cuticle demonstrating that surrounding wild type tissue can partially rescue the defect in differentiation.
Homozygotes fail to pupariate at 25oC and die as very bloated larvae with some partially tanned cuticle. The larval brain show extensive overgrowth of the cerebral hemispheres. Irradiation of larvae results in 100% rescue of the pupariation delay.
Hemizygous larvae have abnormal wing discs; the wing discs are smaller than normal and have an abnormal morphology up to the time of pupariation in normal larvae. Hemizygous larvae fail to pupariate at 25oC, and have an extended third larval instar period compared to wild-type that lasts up to about 15 days after egg laying (AEL). During this time the wing discs overgrow, and by 11 days AEL begin to fuse with the haltere and third leg discs. The optic lobes of the brain also become greatly enlarged, and fusion occurs between the first and second leg discs and the ventral ganglion. All the imaginal discs appear to be affected in a similar manner, but fusion only occurs between discs that are close together. The larvae take on a swollen, bloated appearance during the extended third larval instar period. About 15 days AEL they form a "pseudopupa" with some tanning of the larval cuticle.
External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Enhancer of
Statement
Reference
Suppressor of
Statement
Reference
dlg17 is a suppressor of neuroanatomy defective phenotype of sei2
NOT Suppressor of
Statement
Reference
dlg17 is a non-suppressor of neuroanatomy defective phenotype of slo1
Phenotype Manifest In
Suppressed by
Statement
Reference
NOT suppressed by
Statement
Reference
Enhancer of
Statement
Reference
dlg1[+]/dlg17 is an enhancer of NMJ bouton phenotype of par-1UAS.cSa
Suppressor of
Statement
Reference
dlg17 is a suppressor of NMJ bouton | supernumerary phenotype of sei2
dlg17 is a suppressor of neuromuscular junction phenotype of sei2
dlg17 is a suppressor of NMJ bouton | supernumerary phenotype of slo1
dlg17 is a suppressor of neuromuscular junction phenotype of slo1
NOT Suppressor of
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference
dlg17/sei2 mutants exhibit reduced levels of type B and type M satellites, close to wild-type levels, compared to sei2 single mutants. These reduction correlates with reduced levels of mature boutons and with simpler branching patterns. dlg17/slo1 mutants exhibit reduced levels of type B and type M satellites, close to wild-type levels, compared to slo1 single mutants. This reduction correlates with reduced levels of mature boutons and with simpler branching patterns.
The ectopic subsynaptic reticulum-like structures seen in muscles expressing Syx18Scer\UAS.cGa under the control of Scer\GAL4C57 are not suppressed by dlg17.
dlg17/+ enhances the reduction in the number boutons at the neuromuscular junction which is seen in animals expressing par-1Scer\UAS.cSa under the control of Scer\GAL4Mhc.PW. par-1Δ-16/+ partially suppresses the decrease in the number of boutons at the neuromuscular junction which is seen in dlg17 homozygotes.
The rescue of the dlg17 neuromuscular junction defects by dlg1S48A.Scer\UAS.T:Avic\GFP expressed under the control of Scer\GAL4unspecified is unaltered by expression of CaMKIIT287D.Scer\UAS in the postsynaptic muscles.
The increased number of active zones is also rescued if Rnor\SAP97Scer\UAS.cTa is targeted to both pre- and postsynaptic cells using Scer\GAL4unspecified.
Xenogenetic Interactions
Statement
Reference
The imaginal disc and brain tumour phenotypes of hemizygous males is partially rescued by Rnor\SAP97Scer\UAS.cTa or Rnor\SAP102Scer\UAS.cTa expressed using Scer\GAL4da.G32, resulting in viable adults in some cases. These flies are flightless. Some of the flies rescued by Rnor\SAP97Scer\UAS.cTa expressed using Scer\GAL4da.G32 show patches of tumour-like outgrowth, particularly on the legs and wings. There is an 80% reduction in the number of viable dlg17 males rescued by Rnor\SAP102Scer\UAS.cTa expressed using Scer\GAL4da.G32 if the flies are also heterozygous for Df(3L)H99, and all surviving flies have tumours. The neuromuscular junction presynaptic phenotype of hemizygous males is not rescued by Rnor\SAP97Scer\UAS.cTa or Rnor\SAP102Scer\UAS.cTa expressed using Scer\GAL4da.G32, although the bouton structure does appear normal when Rnor\SAP97Scer\UAS.cTa or Rnor\SAP102Scer\UAS.cTa are expressed using Scer\GAL4elav.PLu. The tumour phenotype of hemizygous males is not rescued by Rnor\SAP97Scer\UAS.cTa or Rnor\SAP102Scer\UAS.cTa expressed using Scer\GAL4elav.PLu. Hemizygous males rescued by Rnor\SAP102Scer\UAS.cTa expressed using Scer\GAL4da.G32 together with Scer\GAL4elav.PLu can fly.
Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
Comments
Comments
Class III mutation.
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (13)
References (32)