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General Information
Symbol
Dmel\dlg114
Species
D. melanogaster
Name
FlyBase ID
FBal0002683
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dlgm52, dlg1m52
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G11397913A

Reported nucleotide change:

G?A

Comment:

G to A transition at the splice donor for intron five that results in a stop codon near the beginning of the PDZ/DHR3 domain and a severely truncated protein.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

The splice-site mutation of the dlg1 allele produces an unstable protein.

Splicing defect reveals a stop codon in intron 5 resulting in a truncated protein containing PDZ1, PDZ2 and the beginning of PDZ3.

Nucleotide substitution: G?A. Transition is at the splice donor for intron 5, resulting in stop codon near the beginning of PDZ/DHR3.

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 ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In

imaginal disc & epithelial cell & plasma membrane | somatic clone

imaginal disc & epithelial cell & septate junction | somatic clone

imaginal disc & septate junction

Detailed Description
Statement
Reference

dlg114 significantly reduces centrosome recoil upon microtubule ablation (mean centrosome velocity relative to microtubule ablation site) compared to wild type.

Mutant third instar neuromuscular junctions show highly reduced subsynaptic reticulum.

Mutant embryos produce a continuous, malformed cuticle.

dlg114 mutant clones in cephalic complexes (including the eye-antennal discs) exhibit defects in cell polarity.

dlg114 mutant clones in the follicle cells become invasive about half the time - streams of cells are found to break out of the follicular epithelium at random points and to cross the germ cell poper, predominantly along the anterior-posterior axis of the egg chamber, but also in diverging directions relative to the position of the oocyte.

Neuroblasts in homozygous stage 15 embryos (lacking zygotic dlg1 function) show defects in division; 80% undergo normal division, while 20% undergo a symmetrical division. Neuroblasts in stage 15 embryos derived from germline clones (lacking both maternal and zygotic dlg1 function) show defects in division; 68% undergo normal division, 22% undergo a symmetrical division and 10% undergo an inverted asymmetrical division.

In stage 15 embryos lacking both maternal and zygotic dlg1 function the loosely adherent and rounded mutant epidermal cells reassociate to form coherent strips of cells that are highly polarised. Adherens junctions (which are mislocalised in mid-embryogenesis) become restricted to the junction of apical and basolateral surfaces, similar to wild-type epithelia. The pleated septate junction is not formed.

dlg114 mutant clones exhibit malformed plasma membranes disrupted into vesicles along with disrupted septate junctions.

dlg114/Df(1)N71 wandering third instar larvae have large tumours on the brain and imaginal discs. The type 1 boutons of dlg114/Df(1)N71 third instar larvae have larger synaptic vesicles and a larger synaptic area than in wild-type larvae. Quantal size is larger in the dlg114 boutons, an increase that correlates well with the increase in vesicle volume, but not with that of synaptic area. Quantal variance is not significantly different from wild type.

Follicle cell clones homozygous for dlg114 show defects in morphology.

Embryos derived from maternal homozygous germline clones show an early loss of embryonic epithelial apical/basal polarity and neuroblast defects.

The median survival of adult hosts transplanted with hemizygous dlg114 brain fragments is reduced compared to adult hosts transplanted with wild-type brain fragments. Cells from transplanted hemizygous brain fragments form at least one secondary tumour in the wild-type host in 22% of cases. Imaginal discs from hemizygous dlg114 larvae form large primary tumours but no detectable secondary tumours after transplantation into wild-type adult hosts.

Follicle cells have an invasive phenotype, intermingling with germ cells in the egg chamber in females with homozygous dlg114 clones in both the germ cells and follicle cells. Females with homozygous clones in the germ cells alone occasionally have misshaped germ cells but show no other defects. Females with homozygous clones in the follicle cells alone have an overaccumulation of follicle cells at the anterior and posterior poles of the egg chamber, but these follicle cells invade germ tissue only rarely.

Imaginal discs are composed of a dense mass of multilayered, noncolumnar epithelial cells that lack septate junctions and apicobasal polarity. Imaginal discs are also overgrown. These phenotypes can be rescued by Scer\GAL469B-mediated expression of dlg1Δt40.Scer\UAS.T:Zzzz\FLAG, dlg1ΔGUK.Scer\UAS.T:Zzzz\FLAG or dlg1ΔPDZ1.Scer\UAS.T:Zzzz\FLAG.

Mutant shows no change in glutamate receptor localization.

Homozygotes die as late third instar larvae.

Neoplastic overgrowth mutant. Imaginal disc tissue shows abnormal distribution of apico-lateral cell junctional markers.

Presynaptic morphology is normal except for a small but significant reduction in vesicle density. Structural defects in the subsynaptic reticulum (SSR), it appears to be underdeveloped. Synaptic transmission is altered; increase in excitatory junctional currents (EJC) amplitude (not due to changes in passive properties of the muscle membrane but due to presynaptic defects causing increased neurotransmitter release).

There are no abnormalities in the pathways axons follow, the growth cone morphology, or the time at which the growth cones reach their target and differentiate into boutons on muscles 6, 7, 12 and 13 in hemizygotes.

Homozygous larvae exhibit overgrown imaginal discs. Imaginal disc cells lack apicobasal polarity and septate junctions, adherens junctions are still present at various ectopic positions on the cell membrane. Salivary gland cells still have obvious apicobasal polarity, but the septate junctions are reduced to a small fraction. The basolateral membrane is highly disrupted.

Lethality occurs during metamorphosis with neoplastic growth in imaginal discs and CNS.

Mitotic recombination in the female germline produces embryos with abnormal segmentation in the epidermis and nervous system, but which can make recognized cuticular derivatives.

dlg14/dlg12 lethal at 18oC

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

dlg114 has lethal | recessive | larval stage phenotype, enhanceable by Sh7/Sh7

Suppressed by
Enhancer of
Suppressor of
Statement
Reference
Other
Phenotype Manifest In
Suppressed by
Enhancer of
NOT Enhancer of
Statement
Reference

dlg1[+]/dlg114 is a non-enhancer of ommatidium phenotype of Vangstbm-153

Suppressor of
NOT Suppressor of
Statement
Reference

dlg1[+]/dlg114 is a non-suppressor of ommatidium phenotype of Vangstbm-153

Other
Additional Comments
Genetic Interactions
Statement
Reference

Heterozygosity for dlg114 has no effect on the frequency of ommatidia that show planar cell polarity defects in Vangstbm-153 homozygotes.

Scer\GAL4Mef2.PR-mediated expression of SyndScer\UAS.cKa can induce postsynaptic membrane expansions in dlg114 mutants that show highly reduced subsynaptic reticulum.

The cuticle defects seen at 25[o]C in embryos derived from exo84onr/Df(3R)Espl3 females mated to exo84onr heterozygous males are suppressed by dlg114.

dlg114 mutant clones expressing Ras85DV12.Scer\UAS under the control of Scer\GAL4Act5C.PI exhibit invasive tumours.

The yrt75 cuticle phenotype is not modified in yrt75, dlg114 double zygotic mutant embryos.

bazEH171, dlg114 double mutant clones in the follicle cells exhibit a rough germline boundary, but do not exhibit any invasive properties.

dlg114 ; l(2)glunspecified/+ neuroblasts show defects in division; 59% undergo normal division, 26% undergo a symmetrical division and 15% undergo an inverted asymmetrical division. dlg114 ; scrib1/+ neuroblasts show defects in division; 52% undergo normal division, 32% undergo a symmetrical division and 16% undergo an inverted asymmetrical division. dlg114 ; l(2)glunspecified/+ ; scrib1/+ neuroblasts show defects in division; 56% undergo normal division, 22% undergo a symmetrical division and 22% undergo an inverted asymmetrical division.

dlg114 sdtunspecified embryos (which lack both maternal and zygotic dlg1 and sdt function) have cuticle phenotypes which are indistinguishable from dlg114 embryos lacking maternal and zygotic dlg1 function. At mid-embryogenesis, adherens junctions are mis-localised to basolateral surfaces. dlg114 sdtunspecified zygotically mutant embryos produce continuous patches of cuticle. dlg114 baz4 embryos (which lack both maternal and zygotic dlg1 and baz function) have cuticle phenotypes which are indistinguishable from baz4 embryos lacking maternal and zygotic baz function; the embryos show a severe loss of post-gastrulation adherens junctions and fail to produce cuticle.

Marked clones in the eye disc expressing Ras85DV12.Scer\UAS under the control of Scer\GAL4Act5C.PI and which are also homozygous for dlg114 show metastatic behaviour.

Enhances the wing phenotype caused by expression of armScer\UAS.cWa under the control of Scer\GAL4en-e16E. Suppresses the wing phenotype caused by expression of argos::shgi.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4en-e16E.

dlg114 Sh7 double homozygotes die as first or second instar larvae.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

Expression of dlg1Scer\UAS.cBa, driven by either Scer\GAL4BG380 or Scer\GAL4BG487, rescues the neurological phenotype of dlg114/Df(1)N71 mutants, leading to wild-type vesicle and quantal size. The synaptic area is reduced to a wild-type size in type 1s boutons, while in type 1b boutons, the rescued synaptic area is actually smaller than wild-type controls.

Abnormal Sh clustering phenotype can be rescued by Scer\GAL4BG487-mediated expression of dlg1Scer\UAS.cBa.

Scer\GAL4BG487 or Scer\GAL4C57 mediated postsynaptic expression of dlg1Scer\UAS.cBa partially rescues the SSR mutant phenotype at type I synapses, Scer\GAL4sca.PC or Scer\GAL4BG380 mediated presynaptic expression fully rescues.

Scer\GAL432B mediated expression of dlg1Scer\UAS.cBa rescues lethality to adulthood.

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

Voelker.

Comments
Comments

Class I mutation.

Clonal analysis indicates that dlg1 acts in both germ cells and follicle cells to block cellular invasion.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (8)
References (56)