FB2024_03 , released June 25, 2024
Allele: Dmel\pbl2
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General Information
Symbol
Dmel\pbl2
Species
D. melanogaster
Name
FlyBase ID
FBal0013546
Feature type
allele
Associated gene
Dmel\pbl
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Tearle and Nusslein-Volhard, 1987)
Progenitor genotype
Cytology
Description

Mutation results in premature termination in the first BRCT domain.

(Prokopenko et al., 1999)

Nucleotide substitution: C?T.

(Prokopenko et al., 1999)

Amino acid replacement: Q37term.

(Prokopenko et al., 1999)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:7,907,267..7,907,267 [-]
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

(Prokopenko et al., 1999)
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      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.

      (Jeong et al., 2017)

      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.

      (Nakamura et al., 2013)

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

      (Murray et al., 2012)

      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.

      (Smallhorn et al., 2004)

      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.

      (Echard and O'Farrell, 2003)

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

      (Somers and Saint, 2003)

      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.

      (Prokopenko et al., 1999)

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

      (Hime and Saint, 1992)

      cold-sensitive

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

      pbl2 has abnormal cytokinesis phenotype, enhanceable by CycB3Δ

      (Echard and O'Farrell, 2003)
      Enhancer of
      Statement
      Reference

      pbl[+]/pbl2 is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of cherQ1042X

      (Jeong et al., 2017)

      pbl2 is an enhancer of abnormal cytokinesis phenotype of CycB3Δ

      (Echard and O'Farrell, 2003)
      Suppressor of
      Statement
      Reference

      pbl[+]/pbl2 is a suppressor | partially of abnormal neuroanatomy | embryonic stage phenotype of RhoGAPp190RNAi.N.UAS, Scer\GAL4elav.PLu

      (Jeong et al., 2012)

      pbl[+]/pbl2 is a suppressor of abnormal eye color phenotype of Hsap\MECP2R294X.UAS, Scer\GAL4GMR.PU

      (Cukier et al., 2008)

      pbl[+]/pbl2 is a suppressor of abnormal neuroanatomy phenotype of LIMK1UAS.Tag:HA, Scer\GAL4ey-OK107

      (Ng and Luo, 2004)

      pbl2 is a suppressor of visible phenotype of Rho1GMR.PH

      (Prokopenko et al., 1999)
      Other
      Phenotype Manifest In
      Suppressed by
      Statement
      Reference

      pbl2/pbl3 has mesoderm phenotype, suppressible | partially by Rac1V12.UAS/Scer\GAL4twi.PU

      (Murray et al., 2012)

      pbl2/pbl3 has mesoderm phenotype, suppressible | partially by Scer\GAL4twi.PU/Cdc42V12.UAS

      (Murray et al., 2012)

      pbl2/pbl3 has mesoderm phenotype, suppressible | partially by Rho1V14.UAS/Scer\GAL4twi.PU

      (Murray et al., 2012)
      Enhancer of
      Statement
      Reference

      pbl[+]/pbl2 is an enhancer of larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype of cherQ1042X

      (Jeong et al., 2017)

      pbl[+]/pbl2 is an enhancer of axon | embryonic stage phenotype of cherQ1042X

      (Jeong et al., 2017)
      NOT Enhancer of
      Statement
      Reference

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

      (Cukier et al., 2008)
      Suppressor of
      Statement
      Reference

      pbl[+]/pbl2 is a suppressor | partially of larval intersegmental nerve branch ISNb of A1-7 phenotype of RhoGAPp190RNAi.N.UAS, Scer\GAL4elav.PLu

      (Jeong et al., 2012)

      pbl[+]/pbl2 is a suppressor of eye phenotype of Hsap\MECP2UAS.FL, Scer\GAL4GMR.PU

      (Cukier et al., 2008)

      pbl[+]/pbl2 is a suppressor of adult mushroom body phenotype of LIMK1UAS.Tag:HA, Scer\GAL4ey-OK107

      (Ng and Luo, 2004)

      pbl2 is a suppressor of eye phenotype of Rho1GMR.PH

      (Prokopenko et al., 1999)
      NOT Suppressor of
      Statement
      Reference

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

      (Cukier et al., 2008)
      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.

      (Jeong et al., 2017)

      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.

      (Jeong et al., 2012)

      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.

      (Murray et al., 2012)

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

      (Echard and O'Farrell, 2003)

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

      (Prokopenko et al., 1999)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Rescued by

      pbl2/pbl3 is rescued by pbl+tcos34

      (Murray et al., 2012)
      Partially rescued by

      pbl2/pbl3 is partially rescued by Scer\GAL4prd.RG1/pblΔPH.UAS.GFP

      (Murray et al., 2012)

      pbl2/pbl3 is partially rescued by pblΔPH

      (Murray et al., 2012)

      pbl2/pbl3 is partially rescued by pblUAS.Tag:MYC/Scer\GAL4prd.RG1

      (Smallhorn et al., 2004)

      pbl2/pbl3 is partially rescued by pblUAS.Tag:MYC/Scer\GAL4twi.PG

      (Smallhorn et al., 2004)

      pbl2/pbl3 is partially rescued by pblΔBRCT.UAS/Scer\GAL4prd.RG1

      (Smallhorn et al., 2004)
      Not rescued by

      pbl2/pbl3 is not rescued by pblΔDH497-549.UAS/Scer\GAL4prd.RG1

      (Smallhorn et al., 2004)
      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.

      (Murray et al., 2012)
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      References (14)