FlyBase Allele Report: Dmel\pbl[5]

General Information

Symbol

Dmel\pbl⁵

Species

D. melanogaster

Name

FlyBase ID

FBal0013549

Feature type

allele

Associated gene

Dmel\pbl

Associated Insertion(s)

Carried in Construct

Also Known As

pbl^11D

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Schumacher et al., 2004)

Mutagen

ethyl methanesulfonate

(Tearle and Nusslein-Volhard, 1987)

Progenitor genotype

Cytology

Description

Amino acid replacement: V531D. Nucleotide substitution: GTT to GAT. The mis-sense mutation is within the most highly conserved region (CR3) of the DH Domain.

(Prokopenko et al., 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:7,897,878..7,897,878 [-]

Nucleotide change:

T7897878A

Reported nucleotide change:

T?A

Amino acid change:

Reported amino acid change:

V531D

(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

abnormal cell migration | embryonic stage

(van Impel et al., 2009)

abnormal cytokinesis

(Schumacher et al., 2004, Vervoort et al., 1997, Lehner, 1992)

abnormal cytokinesis (with pbl²)

(Prokopenko et al., 1999)

abnormal mitotic cell cycle

(Pandey et al., 2005, Prokopenko et al., 1999, Vervoort et al., 1997)

lethal - all die during embryonic stage

(Hime and Saint, 1992)

some die during embryonic stage

(Hime and Saint, 1992)

Phenotype Manifest In

actomyosin contractile ring

(Prokopenko et al., 1999)

centrosome

(Pandey et al., 2005)

larval sense organ | precursor

(Vervoort et al., 1997)

Malpighian tubule

(Jack and Myette, 1999)

mesoderm

(van Impel et al., 2009, Schumacher et al., 2004)

trunk mesoderm

(Smallhorn et al., 2004)

Detailed Description

Statement

Reference

No significant increase in defasciculation defects in intersegmental nerve b motor axons is observed in pbl⁵ heterozygous embryos compared to controls.

(Jeong et al., 2017)

pbl⁵ embryos exhibit defects in mesoderm migration (a reduction in the number of eve-positive hemisegments).

(van Impel et al., 2009)

pbl⁵ mutants exhibit an increase in centrosome number to four during the cycle following a cytokinesis failure.

(Pandey et al., 2005)

Defects in cytokinesis in pbl⁵ homozygous embryos lead to the formation of multinucleate cells. This phenotype is fully penetrant. These embryos are defective in mesodermal migration. However, the penetrance and expressivity of this phenotype is weaker than that seen in pbl³ homozygotes: At stages 10-12, pbl⁵ homozygotes have an average 12 hemisegments containing eve expressing mesoderm cells (wild-type embryos have 22). A few of these embryos (2/45) even contain wild-type numbers of eve positive mesodermal cells.

(Schumacher et al., 2004)

pbl⁵ homozygous embryos exhibit cytokinesis defects and have few eve-positive dorsal mesodermal cell clusters at stage 11. This failure of dorsal mesoderm differentiation is probably due to defects in dorsal migration/spreading of the mesoderm and accompanying changes in cell morphology that can be seen at earlier stages in these embryos.

(Smallhorn et al., 2004)

Homozygous embryos have small unelongated Malpighian tubules.

(Jack and Myette, 1999)

Ectodermal cells in pbl²/pbl⁵ embryos exhibit a failure in cytokinesis in mitotic cycle 14 resulting in the formation of polyploid multinucleate cells. Other events of the cell cycle are not affected, and 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)

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

(Vervoort et al., 1997)

Neuroblast formation occurs normally in pbl mutant embryos.

(Cui and Doe, 1995)

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

Enhanced by

Statement

Reference

pbl⁵ has abnormal cell migration | embryonic stage phenotype, enhanceable by Scer\GAL4^twi.2PE/Rac1^N17.UAS

(van Impel et al., 2009)

pbl⁵ has abnormal cell migration | embryonic stage phenotype, enhanceable by Scer\GAL4^twi.2PE/Rac1^V12.UAS

(van Impel et al., 2009)

NOT Enhanced by

Statement

Reference

pbl⁵ has abnormal cell migration | embryonic stage phenotype, non-enhanceable by Scer\GAL4^twi.2PE/Rho1^V14.UAS

(van Impel et al., 2009)

pbl⁵ has abnormal mitotic cell cycle phenotype, non-enhanceable by pim^IL

(Pandey et al., 2005)

Enhancer of

Statement

Reference

pbl[+]/pbl⁵ is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of cher^Q1042X

(Jeong et al., 2017)

NOT Enhancer of

Statement

Reference

pbl⁵ is a non-enhancer of abnormal cytokinesis phenotype of pim^IL

(Pandey et al., 2005)

pbl⁵ is a non-enhancer of abnormal mitotic cell cycle phenotype of pim^IL

(Pandey et al., 2005)

pbl⁵ is a non-enhancer of visible phenotype of RacGAP84C^GAP.UAS, Scer\GAL4^GMR.PU

(Raymond et al., 2004)

Suppressor of

Statement

Reference

pbl[+]/pbl⁵ is a suppressor of abnormal eye color phenotype of Hsap\MECP2^R294X.UAS, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

pbl⁵ is a suppressor of visible phenotype of Rho1^GMR.PH

(Prokopenko et al., 1999)

NOT Suppressor of

Statement

Reference

pbl⁵ is a non-suppressor of visible phenotype of RacGAP84C^GAP.UAS, Scer\GAL4^GMR.PU

(Raymond et al., 2004)

Phenotype Manifest In

Enhanced by

Statement

Reference

pbl⁵ has mesoderm phenotype, enhanceable by Scer\GAL4^twi.2PE/Rac1^N17.UAS

(van Impel et al., 2009)

pbl⁵ has mesoderm phenotype, enhanceable by Scer\GAL4^twi.2PE/Rac1^V12.UAS

(van Impel et al., 2009)

NOT Enhanced by

Statement

Reference

pbl⁵ has mesoderm phenotype, non-enhanceable by Scer\GAL4^twi.2PE/Rho1^V14.UAS

(van Impel et al., 2009)

pbl⁵ has centrosome phenotype, non-enhanceable by pim^IL

(Pandey et al., 2005)

Enhancer of

Statement

Reference

pbl[+]/pbl⁵ is an enhancer of larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype of cher^Q1042X

(Jeong et al., 2017)

pbl[+]/pbl⁵ is an enhancer of axon | embryonic stage phenotype of cher^Q1042X

(Jeong et al., 2017)

NOT Enhancer of

Statement

Reference

pbl[+]/pbl⁵ is a non-enhancer of eye phenotype of Hsap\MECP2^Δ166.UAS, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

pbl⁵ is a non-enhancer of centrosome phenotype of pim^IL

(Pandey et al., 2005)

pbl⁵ is a non-enhancer of eye phenotype of RacGAP84C^GAP.UAS, Scer\GAL4^GMR.PU

(Raymond et al., 2004)

Suppressor of

Statement

Reference

pbl[+]/pbl⁵ is a suppressor of eye phenotype of Hsap\MECP2^UAS.FL, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

pbl⁵ is a suppressor of eye phenotype of Rho1^GMR.PH

(Prokopenko et al., 1999)

NOT Suppressor of

Statement

Reference

pbl[+]/pbl⁵ is a non-suppressor of eye phenotype of Hsap\MECP2^Δ166.UAS, Scer\GAL4^GMR.PU

(Cukier et al., 2008)

pbl⁵ is a non-suppressor of eye phenotype of RacGAP84C^GAP.UAS, Scer\GAL4^GMR.PU

(Raymond et al., 2004)

Additional Comments

Genetic Interactions

Statement

Reference

The moderate axon pathfinding defects observed in cher^Q1042X heterozygous embryos are enhanced by combination with a single copy of pbl⁵.

(Jeong et al., 2017)

The percentage of tetranucleate early spermatids in testes from bru^Z0704/bru^Z3358, pbl⁵/pbl^Z4836 males is similar to that of testes from pbl⁵/pbl^Z4836 males that are heterozygous for a bru mutation, indicating a lack of genetic interaction between bru and pbl.

(Robinett et al., 2009)

Expression of Rac1^N17.Scer\UAS under the control of Scer\GAL4^twi.2PE enhances the mesodermal migration defects seen in pbl⁵ homozygotes.

Expression of Rac1^V12.Scer\UAS under the control of Scer\GAL4^twi.2PE enhances the mesodermal migration defects seen in pbl⁵ homozygotes.

Expression of Rho1^V14.Scer\UAS under the control of Scer\GAL4^twi.2PE does not enhance the mesodermal migration defects seen in pbl⁵ homozygotes.

(van Impel et al., 2009)

pim^IL pbl⁵ double mutants exhibit an increase in centrosome number per cell per cycle.

(Pandey et al., 2005)

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

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

2452

ru¹ pbl⁵ hry¹ Diap1^th-1 st¹ cu¹ sr¹ e^s ca¹/TM3, Sb¹

Kyoto

107339

ru¹ pbl⁵ hry¹ Diap1^th-1 st¹ cu¹ sr¹ e^s ca¹/TM3, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

pbl^11D05

(Harbecke and Lengyel, 1995)

pbl^11D

(van Impel et al., 2009, Pandey et al., 2005, Schumacher et al., 2004, Salzberg et al., 1997, Vervoort et al., 1997, Cui and Doe, 1995, Weigmann and Lehner, 1995, Hime and Saint, 1992, Tearle and Nusslein-Volhard, 1987)

pbl⁵

(Nguyen et al., 2022, Jeong et al., 2017, Montembault et al., 2017, Jeong et al., 2012, Robinett et al., 2009, Raymond et al., 2004)

Name Synonyms

Secondary FlyBase IDs

References (21)

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