FlyBase Allele Report: Dmel\pbl[3]

General Information

Symbol

Dmel\pbl³

Species

D. melanogaster

Name

FlyBase ID

FBal0013547

Feature type

allele

Associated gene

Dmel\pbl

Associated Insertion(s)

Carried in Construct

Also Known As

pbl⁷⁰

Key Links

Genomic Maps

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Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Schumacher et al., 2004)

Mutagen

ethyl methanesulfonate

(Tearle and Nusslein-Volhard, 1987)

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

point_mutation

3L:7,901,808..7,901,808 [-]

Nucleotide change:

G7901808A

Reported nucleotide change:

G?A

Amino acid change:

Reported amino acid change:

W185term

(Prokopenko et al., 1999)

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

Cytology

Nature of the lesion

Statement

Reference

Mutation results in premature termination in the C-terminal end of the first BRCT domain.

(Prokopenko et al., 1999)

Nucleotide substitution: G?A.

(Prokopenko et al., 1999)

Amino acid replacement: W185term.

(Prokopenko et al., 1999)

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 ( 1 )

Disease

Interaction

References

ameliorates tauopathy

modeled by Hsap\MAPT^UAS.cWa

(Feuillette et al., 2020)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Zygotic mutant embryos show pleiotropic effects on mesoderm development that disrupt gastrulation, and a consistent replacement of denticles with ectopic naked cuticle on the ventral side.

(Greer et al., 2013)

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

(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)

pbl³ homozygous embryos display defects in cytokinesis and mesodermal migration (a reduction in the number of eve-positive hemisegments compared to wild-type). Mesodermal invagination is unaffected.

(van Impel et al., 2009)

pbl³ mutants exhibit an increase in centrosome number to four during the cycle following a cytokinesis failure.

(Pandey et al., 2005)

Contact between the invaginated mesoderm and the ectoderm does not occur in homozygous embryos.

(Wilson et al., 2005)

Both pbl³/pbl³ and pbl³/Df(3L)pbl-NR embryos have dramatically reduced numbers of eve positive mesodermal cells at the extended germband stage. While the mesoderm invaginates as normal in these embryos, cells at the base of the invaginated mesodermal tube fail to attach to the underlying ectoderm. Post-invagination migration of the mesoderm and the characteristic cell shape changes that accompany it also fail. Close analysis of the mesoderm during the stages when migration normally occurs reveals a filamentous actin rich cell cortex equally distributed round the circumference of the cells, with none of the protrusions found in wild-type present. As in wild-type mesoderm, adherens junctions are lost from the mesoderm in pbl³ homozygotes after invagination. At stages 10-12, embryos homozygous for pbl³ have an average of just 1 hemisegment with eve expressing mesoderm cells, compared with 22 wild-type embryos. Defects in cytokinesis in pbl³ homozygous embryos lead to the formation of multinucleate cells. This phenotype is fully penetrant.

(Schumacher et al., 2004)

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, large multinucleated cells with NB6-4 identity appear in 92% of thoracic hemisegments. these cells have 3.4 nuclei on average (In wild-type NB6-4T divides into 5 to 6 cells). In contrast, cells with NB6-4A identity are present in only a small percentage of abdominal hemisegments (In wild-type NB6-4A divides into 2 cells). Many of these cells have two nuclei.

(Akiyama-Oda et al., 2000)

Cytokinesis, but not cell progression, is prevented. Sense organ precursors differentiate predominantly into md neurons.

(Vervoort et al., 1997)

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)

Cytokinesis fails although cellularization and nuclear aspects of mitosis are normal.

(Lehner, 1992)

cold-sensitive

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

pbl³ has abnormal mitotic cell cycle phenotype, non-enhanceable by pim^IL

(Pandey et al., 2005)

Suppressed by

Statement

Reference

Scer\GAL4^twi.2PE, pbl^{ΔBRCT.UAS.Tag:MYC}, pbl³ has abnormal cell migration | embryonic stage phenotype, suppressible by Rac1^UAS.cLa

(van Impel et al., 2009)

pbl³ has abnormal cytokinesis | embryonic stage phenotype, suppressible by stg⁴/stg⁴

(Schumacher et al., 2004)

NOT suppressed by

Statement

Reference

Scer\GAL4^twi.2PE, pbl^{ΔBRCT.UAS.Tag:MYC}, pbl³ has abnormal cell migration | embryonic stage phenotype, non-suppressible by Rho1^UAS.cMa

(van Impel et al., 2009)

NOT Enhancer of

Statement

Reference

pbl³ is a non-enhancer of abnormal cytokinesis phenotype of pim^IL

(Pandey et al., 2005)

pbl³ is a non-enhancer of abnormal mitotic cell cycle phenotype of pim^IL

(Pandey et al., 2005)

Suppressor of

Statement

Reference

pbl[+]/pbl³ is a suppressor | partially of visible | adult stage phenotype of Hsap\MAPT^UAS.cWa, Scer\GAL4^GMR.PF

(Feuillette et al., 2020)

pbl[+]/pbl³ is a suppressor of abnormal eye color phenotype of Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

pbl[+]/pbl³ is a suppressor | partially of abnormal neuroanatomy phenotype of LIMK1^UAS.Tag:HA, Scer\GAL4^ey-OK107

(Ng and Luo, 2004)

pbl³ is a suppressor of visible phenotype of Rho1^GMR.PH

(Prokopenko et al., 1999)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

pbl³ has centrosome phenotype, non-enhanceable by pim^IL

(Pandey et al., 2005)

Suppressed by

Statement

Reference

pbl²/pbl³ has mesoderm phenotype, suppressible | partially by Rac1^V12.UAS/Scer\GAL4^twi.PU

(Murray et al., 2012)

pbl²/pbl³ has mesoderm phenotype, suppressible | partially by Scer\GAL4^twi.PU/Cdc42^V12.UAS

(Murray et al., 2012)

pbl²/pbl³ has mesoderm phenotype, suppressible | partially by Rho1^V14.UAS/Scer\GAL4^twi.PU

(Murray et al., 2012)

Scer\GAL4^twi.2PE, pbl^{ΔBRCT.UAS.Tag:MYC}, pbl³ has mesoderm phenotype, suppressible by Rac1^UAS.cLa

(van Impel et al., 2009)

pbl³ has mesoderm phenotype, suppressible | partially by Scer\GAL4^twi.PB/htl^λ.UAS

(Schumacher et al., 2004)

NOT suppressed by

Statement

Reference

Scer\GAL4^twi.2PE, pbl^{ΔBRCT.UAS.Tag:MYC}, pbl³ has mesoderm phenotype, non-suppressible by Rho1^UAS.cMa

(van Impel et al., 2009)

pbl³ has mesoderm phenotype, non-suppressible by stg⁴/stg⁴

(Schumacher et al., 2004)

pbl³ has mesoderm phenotype, non-suppressible by htl^UAS.cMa/Scer\GAL4^twi.PB

(Schumacher et al., 2004)

Enhancer of

Statement

Reference

pbl[+]/pbl³ is an enhancer of embryonic peripheral nervous system & neuron phenotype of sti^GS9053/Df(3L)iro-2

(Shandala et al., 2004)

NOT Enhancer of

Statement

Reference

pbl[+]/pbl³ is a non-enhancer of eye phenotype of Hsap\MECP2^Δ166.UAS, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

pbl³ is a non-enhancer of centrosome phenotype of pim^IL

(Pandey et al., 2005)

Suppressor of

Statement

Reference

pbl[+]/pbl³ is a suppressor | partially of eye phenotype of Hsap\MAPT^UAS.cWa, Scer\GAL4^GMR.PF

(Feuillette et al., 2020)

pbl[+]/pbl³ is a suppressor of eye phenotype of Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

pbl[+]/pbl³ is a suppressor | partially of adult mushroom body phenotype of LIMK1^UAS.Tag:HA, Scer\GAL4^ey-OK107

(Ng and Luo, 2004)

pbl³ is a suppressor of eye phenotype of Rho1^GMR.PH

(Prokopenko et al., 1999)

NOT Suppressor of

Statement

Reference

pbl[+]/pbl³ is a non-suppressor of eye phenotype of Hsap\MECP2^Δ166.UAS, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Rac1^V12.Scer\UAS under the control of Scer\GAL4^twi.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 Cdc42^V12.Scer\UAS under the control of Scer\GAL4^twi.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 Rho1^V14.Scer\UAS under the control of Scer\GAL4^twi.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)

Co-expression of Rac1^Scer\UAS.cLa enhances the partial rescue of pbl³ mesodermal migration defects seen when pbl^{ΔBRCT.Scer\UAS.T:Hsap\MYC} is expressed under the control of Scer\GAL4^twi.2PE.

Co-expression of Rho1^Scer\UAS.cMa does not enhance the partial rescue of pbl³ mesodermal migration defects seen when pbl^{ΔBRCT.Scer\UAS.T:Hsap\MYC} is expressed under the control of Scer\GAL4^twi.2PE.

(van Impel et al., 2009)

pim^IL pbl³ double mutants exhibit an increase in centrosome number per cell per cycle.

(Pandey et al., 2005)

The formation of multinucleate cells in pbl³ homozygous embryos is suppressed by stg⁴/stg⁴, but the failure of mesoderm migration and its accompanying cell shape changes is not. Both mesoderm spreading and differentiation in pbl³ homozygous embryos are partially rescued by htl^{Scer\UAS.T:λ\cI-DD}; Scer\GAL4^twi.PB, but not by htl^Scer\UAS.cMa; Scer\GAL4^twi.PB.

(Schumacher et al., 2004)

Acts as a dominant suppressor of the Rho1^GMR.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)

pbl³ is rescued by pbl^UAS.Tag:HA/Scer\GAL4^twi.2PE

(van Impel et al., 2009)

pbl³ is rescued by Scer\GAL4^twi.2PE/pbl^{DH-PH.UAS.Tag:HA}

(van Impel et al., 2009)

Partially rescued by

pbl³ is partially rescued by pbl^UAS.Tag:HA/Scer\GAL4^twi.PG

(Greer et al., 2013)

pbl²/pbl³ is partially rescued by Scer\GAL4^prd.RG1/pbl^ΔPH.UAS.GFP

(Murray et al., 2012)

pbl²/pbl³ is partially rescued by pbl^ΔPH

(Murray et al., 2012)

pbl³ is partially rescued by pbl^{ΔBRCT.UAS.Tag:MYC}/Scer\GAL4^twi.2PE

(van Impel et al., 2009)

pbl³ is partially rescued by pbl^{ΔC-term.UAS.Tag:HA}/Scer\GAL4^twi.2PE

(van Impel et al., 2009)

pbl³ is partially rescued by Scer\GAL4^twi.PB/pbl^UAS.cPa

(Schumacher et al., 2004)

pbl²/pbl³ is partially rescued by pbl^UAS.Tag:MYC/Scer\GAL4^prd.RG1

(Smallhorn et al., 2004)

pbl²/pbl³ is partially rescued by pbl^UAS.Tag:MYC/Scer\GAL4^twi.PG

(Smallhorn et al., 2004)

pbl²/pbl³ is partially rescued by pbl^ΔBRCT.UAS/Scer\GAL4^prd.RG1

(Smallhorn et al., 2004)

Not rescued by

pbl³ is not rescued by pbl^{ΔBRCT.UAS.Tag:MYC}/Scer\GAL4^twi.2PE

(van Impel et al., 2009)

pbl³ is not rescued by Scer\GAL4^twi.2PE/pbl^{ΔN-term.UAS.Tag:HA}

(van Impel et al., 2009)

pbl³ is not rescued by Scer\GAL4^twi.2PE/pbl^{DH.UAS.Tag:HA}

(van Impel et al., 2009)

pbl³ is not rescued by pbl^{ΔC-term.UAS.Tag:HA}/Scer\GAL4^twi.2PE

(van Impel et al., 2009)

pbl³ is not rescued by Scer\GAL4^twi.2PE/pbl^{DH-PH-V531D.UAS.Tag:HA}

(van Impel et al., 2009)

pbl²/pbl³ is not rescued by pbl^{ΔDH497-549.UAS}/Scer\GAL4^prd.RG1

(Smallhorn et al., 2004)

Partially rescues

pbl³/Scer\GAL4^GMR.PU partially rescues pbl^{DH-PH.UAS.Tag:HA}

(van Impel et al., 2009)

Comments

Scer\GAL4^twi.PG-mediated expression of pbl^{Scer\UAS.T:Ivir\HA1} rescues the mesoderm defects in pbl³ embryos but the ectopic naked cuticle phenotype persists.

(Greer et al., 2013)

Expression of pbl^{ΔPH.Scer\UAS.T:Avic\GFP} under the control of Scer\GAL4^prd.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 pbl^ΔPH 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 pbl^ΔPH : the failure of the invaginated mesodermal tube to flatten down onto the ectoderm is not rescued by pbl^ΔPH, 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)

A pbl³/+ background partially rescues the eye phenotype seen when pbl^{DH-PH.Scer\UAS.T:Ivir\HA1} is expressed under the control of Scer\GAL4^GMR.PU.

Expression of pbl^{ΔBRCT.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^twi.2PE partially rescues the mesodermal migration defects seen in pbl³ homozygous mutants but is unable to rescue the cytokinesis defects.

Expression of pbl^{ΔN-term.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^twi.2PE fails to rescue the mesodermal migration defects seen in pbl³ homozygous mutants.

Expression of pbl^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^twi.2PE rescues the cytokinesis and mesodermal migration defects seen in pbl³ homozygous mutants.

Expression of pbl^{DH-PH.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^twi.2PE rescues the mesodermal migration defects seen in pbl³ homozygous mutants.

Expression of pbl^{DH.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^twi.2PE fails to rescue the mesodermal migration defects seen in pbl³ homozygous mutants.

Expression of pbl^{ΔC-term.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^twi.2PE partially rescues the mesodermal migration defects seen in pbl³ homozygous mutants but is unable to rescue the cytokinesis defects.

Expression of pbl^{DH-PH-V531D.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^twi.2PE fails to rescue the mesodermal migration defects seen in pbl³ homozygous mutants.

(van Impel et al., 2009)

Both cytokinesis and migration defects in the mesoderm of pbl³/Df(3L)pbl-NR embryos are rescued by pbl^Scer\UAS.cPa; Scer\GAL4^twi.PB. However, cytokinesis defects still result in multi-nucleated cells in the ectoderm of these embryos.

(Schumacher et al., 2004)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

9358

w^*; pbl³/TM3, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

pbl³

(Feuillette et al., 2020, Greer et al., 2013, Nakamura et al., 2013, Jeong et al., 2012, Murray et al., 2012, Christensen et al., 2009.5.6, Christensen et al., 2009.6.15, van Impel et al., 2009, Christensen et al., 2007.10.29)

pbl⁷⁰

(Pandey et al., 2005, Vervoort et al., 1997, Hime and Saint, 1992)

pbl⁷

(Akiyama-Oda et al., 2000)

pbl^7O79

(Akiyama-Oda et al., 2000)

pbl^7O

(Weigmann and Lehner, 1995, Tearle and Nusslein-Volhard, 1987)

Name Synonyms

Secondary FlyBase IDs

References (24)

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