FlyBase Allele Report: Dmel\pum[9]

General Information

Symbol

Dmel\pum⁹

Species

D. melanogaster

Name

FlyBase ID

FBal0014080

Feature type

allele

Associated gene

Dmel\pum

Associated Insertion(s)

Carried in Construct

Also Known As

pum^ET9

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Schweers et al., 2002, Tearle and Nusslein-Volhard, 1987)

Progenitor genotype

Cytology

Description

Nucleotides 4224 to 4498 have been deleted. This produces a pum protein that lacks a RNA-binding domain.

(Schweers et al., 2002)

Deletion of base pairs 4224-4498 resulting in a frame-shift and premature stop codon. Protein lacks the RNA-binding domain, required for the binding of pum to hb RNA.

(Forbes and Lehmann, 1998)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:9,072,239..9,072,513 [-]

Comment:

A deletion; the coordinates are based on Figure 5A of FBrf0056126 and differ by 2 bp from the coordinates of accession GB:L07943

(Forbes and Lehmann, 1998)

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 ( 1 )

Disease

Interaction

References

ameliorates oculopharyngeal muscular dystrophy

modeled by Hsap\PABPN1^17ala.Act88F

(Chartier et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy (with pum⁷)

(Menon et al., 2004)

abnormal neuroanatomy | third instar larval stage (with pum⁷)

(Menon et al., 2009)

abnormal neurophysiology (with pum⁷)

(Menon et al., 2004)

abnormal neurophysiology (with pum^bem)

(Schweers et al., 2002)

female sterile | recessive

(Schweers et al., 2002)

Phenotype Manifest In

embryonic/larval neuromuscular junction (with pum⁷)

(Menon et al., 2004)

germarium (with pum¹)

(Szakmary et al., 2005)

NMJ bouton (with pum⁷)

(Menon et al., 2004)

NMJ bouton | third instar larval stage (with pum⁷)

(Menon et al., 2009)

ovariole (with pum¹)

(Szakmary et al., 2005)

type I bouton (with pum⁷)

(Menon et al., 2004)

Detailed Description

Statement

Reference

Boutons at the third instar larval neuromuscular junction of pum⁷/pum⁹ mutants are irregularly shaped, decreased in number and larger in size than controls.

(Menon et al., 2009)

pum¹/pum⁹ ovarioles are characterised by germline-empty germaria and an egg chamber.

(Szakmary et al., 2005)

pum⁹/pum⁷ mutant muscle 12 1b neuromuscular junctions differ in a number of ways from wild-type. The synaptic span (the largest distance between the terminal boutons of the 1b synapse) is much smaller in these mutants, abnormally large boutons are seen in pum⁹/pum⁷ mutant 1b neuromuscular junctions, while the total number of 1b boutons is reduced, suggesting that individual boutons may fail to separate from each other during bouton division.

The average area of a type 1B bouton is increased by a factor of more than 2 in pum⁹/pum⁷ mutants. This increase in size is accompanied by a 1.8-fold decrease in the total number of type 1b boutons per neuromuscular junction. 1B neuromuscular junctions on other muscles are affected in a similar manner. No defects are observed in pum⁹/+ heterozygote larvae.

pum⁹/pum⁷ mutant neuromuscular junctions at muscle 6/7 in segments A2-A5 exhibit large increases in the number of eIF-4E aggregates, relative to controls. For pum⁹/pum⁷ larvae, a total of 2001 aggregates among 80 neuromuscular junctions, or 25 aggregates per neuromuscular junction are found. This represents a 5- to 12-fold increase in the number of aggregates per neuromuscular junction relative to wild-type controls. Aggregate numbers in pum⁹/+ heterozygote larvae do no differ significantly from wild-type.

pum⁹/pum⁷ larvae exhibit 5.4- to 12-fold more eIF-4E per muscle 6/7 neuromuscular junction than wild-type controls.

pum⁹/pum⁷ mutant larvae picked directly from liquid food exhibit large numbers of eIF-4E aggregates (15.5 aggregates per neuromuscular junction) and have eIF-4E levels that are only 36% lower than larvae induced to move from the same vial.

1s boutons increase in number by about 1.7-fold in pum⁹/pum⁷ mutants.

Quantal content, in response to evoked transmitter release, is reduced in pum⁹/pum⁷ mutants due to their elevated mEJP amplitudes. pum⁹/+ larvae do not display an increase in mEJP amplitudes.

The mEJP amplitude and quantal content phenotypes of pum⁹/pum⁷ mutants are not rescued to near wild-type levels by neuronal (Scer\GAL4^elav-C155), muscle (Scer\GAL4^{Mhc.Switch.PO}), or dual expression of pum^Scer\UAS.fl.

mEJP frequency is elevated by 1.8- to 3-fold relative to heterozygote and wild-type controls in pum⁹/pum⁷ mutants.

(Menon et al., 2004)

pum^bem/pum⁹ transheterozygotes exhibit a significantly faster long term facilitation (LTF) at the neuromuscular junction than seen in wild-type.

(Schweers et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

pum⁹/pum[+] is a suppressor of visible phenotype of Hsap\PABPN1^17ala.Act88F

(Chartier et al., 2015)

Phenotype Manifest In

Suppressor of

Statement

Reference

pum⁹/pum[+] is a suppressor of wing phenotype of Hsap\PABPN1^17ala.Act88F

(Chartier et al., 2015)

pum⁹/pum[+] is a suppressor of female germline stem cell | increased number phenotype of Scer\GAL4^{VP16.nanos.UTR}, stwl^EY05697

(Maines et al., 2007)

Other

Statement

Reference

bam^Δ86, pum⁹/pum⁰²⁰⁰³ has ovary phenotype

(Chen and McKearin, 2005)

bam^Δ86, pum⁹/pum⁰²⁰⁰³ has germline cell | female phenotype

(Chen and McKearin, 2005)

Additional Comments

Genetic Interactions

Statement

Reference

The phenotype of extra germline stem cells that is seen in the germarium of females expressing stwl^EY05697 under the control of Scer\GAL4^{nos.UTR.T:Hsim\VP16} is suppressed if the females also carry pum⁹/+.

(Maines et al., 2007)

pum⁰²⁰⁰³ bam^Δ86/pum⁹ bam^Δ86 double mutant ovaries have a complex phenotype that is distinct from that of either single mutant. A mixture of apparently undifferentiated cells and overtly polyploid cells is seen. In many cases, the polyploid chromosomes are thick and expanded like nurse cell chromosomes. Occasionally these pseudo-nurse cells are organised within an epithelial layer of follicle cells, like a cyst, although these cysts never contain a full complement of 16 cystocytes. These cysts contain ring canals.

(Chen and McKearin, 2005)

Most germaria are devoid of germ cells in pum¹ bam^Δ86/pum⁹ bam^Δ86 double mutant females.

(Szakmary et al., 2005)

Xenogenetic Interactions

Statement

Reference

pum⁹ suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

(Chartier et al., 2015)

Complementation and Rescue Data

Fails to complement

pum^bem

(Schweers et al., 2002)

Rescued by

pum⁹/pum⁷ is rescued by Scer\GAL4^elav-C155/pum^UAS.fl

(Menon et al., 2004)

pum⁹/pum⁷ is rescued by Scer\GAL4^{Mhc.Switch.PO}/pum^UAS.fl

(Menon et al., 2004)

pum⁹/pum⁷ is rescued by Scer\GAL4^elav-C155/Scer\GAL4^{Mhc.Switch.PO}/pum^UAS.fl

(Menon et al., 2004)

Not rescued by

pum⁹/pum⁷ is not rescued by Scer\GAL4^elav-C155/pum^UAS.fl

(Menon et al., 2004)

pum⁹/pum⁷ is not rescued by Scer\GAL4^{Mhc.Switch.PO}/pum^UAS.fl

(Menon et al., 2004)

pum⁹/pum⁷ is not rescued by Scer\GAL4^elav-C155/Scer\GAL4^{Mhc.Switch.PO}/pum^UAS.fl

(Menon et al., 2004)

pum⁹/pum⁷ is not rescued by Scer\GAL4^elav-C155/pum^RBD.UAS

(Menon et al., 2004)

Comments

Expression of pum^Scer\UAS.fl at 18^oC in postmitotic neurons (Scer\GAL4^elav-C155) rescues the synaptic morphology phenotypes found in a pum⁹/pum⁷ background. Both the average size and the number of type 1b boutons on muscle 12 are restored to wild-type.

Expression of pum^Scer\UAS.fl at 18^oC in muscles (by 'leaky' expression of Scer\GAL4^{Mhc.Switch.PO} in the absence of steroid) has no effect on the phenotypes found in a pum⁹/pum⁷ background.

Expression of pum^Scer\UAS.fl in muscles (Scer\GAL4^{Mhc.Switch.PO}) in pum⁹/pum⁷ larvae reduces the number of eIF-4E aggregates by 7-fold, to 3.5 aggregates per neuromuscular junction. The level of eIF-4E is reduced by approximately 6.5-fold. In contrast, neural expression of pum^Scer\UAS.fl (Scer\GAL4^elav-C155) in pum⁹/pum⁷ larvae does not greatly decrease the number of eIF-4E aggregates (although a 20% reduction is seen). Levels of eIF-4E are 88% of those in pum⁹/pum⁷ larvae.

The increase in 1s bouton number in pum⁹/pum⁷ mutants is fully rescued through expression of pum^Scer\UAS.fl in muscles (Scer\GAL4^{Mhc.Switch.PO}), and is unaffected by expression in neurons (under the control of Scer\GAL4^elav-C155).

Expression of pum^Scer\UAS.fl in both neurons (Scer\GAL4^elav-C155) and muscles (Scer\GAL4^{Mhc.Switch.PO}) rescues the mEJP frequency in pum⁹/pum⁷ mutants to near the level seen in pum⁹/+ heterozygotes.

Expression of pum^RBD.Scer\UAS at 18^oC in postmitotic neurons (Scer\GAL4^elav-C155) does not rescue the morphology phenotypes found in a pum⁹/pum⁷ background, in contrast to its ability to provide the early abdominal segmentation function.

(Menon et al., 2004)

Complementation tested against pum^bem female sterility phenotype. pum⁹ was also tested against the pum^bem gravitaxis, flight defects and long term facilitation (LTF) defects and found not to complement.

(Schweers et al., 2002)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Recovered on the basis of failure to complement the maternal phenotype.

(Lindsley and Zimm, 1992)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

pum⁹

(Chartier et al., 2015)

pum^ET9

(Olesnicky et al., 2012, Menon et al., 2009, Maines et al., 2007, Chen and McKearin, 2005, Szakmary et al., 2005, Menon et al., 2004, Parisi and Lin, 1999, Forbes and Lehmann, 1998, Tearle and Nusslein-Volhard, 1987)

Name Synonyms

Secondary FlyBase IDs

References (12)

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