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General Information
Symbol
Dmel\pbl2
Species
D. melanogaster
Name
FlyBase ID
FBal0013546
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

C7907267T

Reported nucleotide change:

C?T

Amino acid change:

Q37term | pbl-PA; Q37term | pbl-PB; Q84term | pbl-PE

Reported amino acid change:

Q37term

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

Mutation results in premature termination in the first BRCT domain.

Nucleotide substitution: C?T.

Amino acid replacement: Q37term.

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 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

No significant increase in defasciculation defects in intersegmental nerve b motor axons is observed in pbl2 heterozygous embryos compared to controls.

Homozygous and pbl2/pblfortune stage 13 embryos show defects in the left-right asymmetry in their hindgut, with some embryos show no asymmetry, and others showing inverse asymmetry.

The hindgut cells are larger than normal in the hindgut of homozygous embryos.

85.1 +/- 3.8% of cells in the epidermis of stage 10 pbl2/pbl3 embryos are binucleate, indicating a failure in cytokinesis.

pbl2/pbl3 embryos develop abnormal visceral mesoderm and somatic musculature. The visceral mesoderm no longer forms a continuous band running along the anterior to posterior axis on each side of the embryo and the fibres of the somatic musculature are irregular in structure. Segmentally repeated clusters of eve-positive dorsal mesodermal cells normally seen in stage 11 embryos fail to form. Mesodermal abnormalities in pbl2/pbl3 embryos may be due in part to a failure of migration of the dorsal mesoderm: During stage 8, migrating mesodermal cells in these embryos have fewer protrusions in the direction of motion, are more rounded more closely packed together. This is particularly clear for those cells adjacent to the ectoderm. In most of these embryos at stage 10, mesodermal cells have failed to migrate to a position adjacent to the dorsal-most ectodermal cells or to form a monolayer under the ectoderm, instead remaining aggregated around the ventral midline.

In mutant embryos cytokinesis defects are seen, but furrow initiation and ingression can be seen during mitosis 14, and to a lesser extent mitosis 15. Abortion of incomplete furrows appears to be the source of binucleate cells that typify interphase 15 mutant embryos.

Dividing cells in pbl2 mutant embryos have highly abnormal mitotic figures with a complex array of mitotic spindles.

Ectodermal cells in pbl2/pbl5 embryos exhibit a failure in cytokinesis in mitotic cycle 14 resulting in the formation of polyploid multinucleate cells. During cycle 15, two mitotic figures are formed that independently enter anaphase. Affected cells fail to initiate contractile ring formation, and no sign of a cleavage furrow is seen.

Nuclei reduced in number and exhibit gross morphological alterations. Cells are multinucleate and may have more than one spindle after postblastoderm mitoses.

cold-sensitive

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

pbl[+]/pbl2 is a non-enhancer of eye phenotype of Hsap\MECP2Δ166.UAS, Scer\GAL4GMR.PU

Suppressor of
Statement
Reference
NOT Suppressor of
Statement
Reference

pbl[+]/pbl2 is a non-suppressor of eye phenotype of Hsap\MECP2Δ166.UAS, Scer\GAL4GMR.PU

Other
Additional Comments
Genetic Interactions
Statement
Reference

The moderate axon pathfinding defects observed in cherQ1042X heterozygous embryos are enhanced by combination with a single copy of pbl2.

Total ISNb guidance defects in embryos doubly heterozygous for Sema-1ak13702 and pbl2 are greater than those observed for either single heterozygote.

pbl2/+ significantly reduces the penetrance of the ISNb premature branching phenotype seen in embryos expressing RhoGAPp190dsRNA.N.Scer\UAS under the control of Scer\GAL4elav.PLu (from 22.1% to 9.4% of hemisegments). These embryos show a significant increase in defasciculation defects (excluding premature branching defects) at the last ISNb choice point.

Expression of Rac1V12.Scer\UAS under the control of Scer\GAL4twi.PU partially rescues mesodermal cell morphology in pbl2/pbl3 embryos: cellular protrusions are restored, but the defect in cell rounding is not rescued.

Expression of Cdc42V12.Scer\UAS under the control of Scer\GAL4twi.PU partially rescues mesodermal cell morphology in pbl2/pbl3 embryos: cellular protrusions are restored (although they appear larger and more elaborate than normal), but the defect in cell rounding is not rescued.

Expression of Rho1V14.Scer\UAS under the control of Scer\GAL4twi.PU partially rescues mesodermal cell morphology in pbl2/pbl3 embryos: cellular protrusions are not restored, but the defect in cell rounding is rescued.

In CycB3Δ, pbl2 mutant embryos cytokinesis furrows are absent (or exceptional(. Moreover, late spindles are broad and short.

Acts as a dominant suppressor of the Rho1GMR.PH-induced rough eye phenotype.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Rescued by
Comments

Expression of pblΔPH.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4prd.RG1 substantially rescues the failure of cytokinesis seen in the epidermis of stage 10 pbl2/pbl3 embryos.

pbl2/pbl3 embryos rescued with two copies of pbl+tcos34 show no defects in cytokinesis or mesoderm migration and develop into viable and fertile adults.

Two copies of pblΔPH partially rescue the failure of cytokinesis seen in stage 10 pbl2/pbl3 embryos: only 54.6 +/- 4.5% of the epidermal cells are binucleate in the rescued embryos.

The defects in mesoderm development seen in pbl2/pbl3 embryos are not completely rescued by two copies of pblΔPH : the failure of the invaginated mesodermal tube to flatten down onto the ectoderm is not rescued by pblΔPH, while the number of protrusions on the mesodermal cells during the migration period between the first and second rounds of mitosis appears slightly increased and the failure of rounding of mesodermal cells is partially rescued.

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Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
References (13)