FlyBase Allele Report: Dmel\pum[7]

General Information

Symbol

Dmel\pum⁷

Species

D. melanogaster

Name

FlyBase ID

FBal0014078

Feature type

allele

Associated gene

Dmel\pum

Associated Insertion(s)

Carried in Construct

Also Known As

pum^ET7

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

Nucleotide substitution: A3890T.

(Schweers et al., 2002)

Mutation truncates the protein before the RNA-binding domain.

(Schweers et al., 2002)

Amino acid replacement: ?949term.

(Schweers et al., 2002)

An A to T switch at base pair 3890, amino acid at position 949 changes to a 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

point_mutation

3R:9,072,847..9,072,847 [-]

Nucleotide change:

A9072847T

Reported nucleotide change:

A3890T

Amino acid change:

Reported amino acid change:

?949term

Comment:

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy (with pum⁹)

(Menon et al., 2004)

abnormal neuroanatomy (with pum^Msc)

(Menon et al., 2004)

abnormal neuroanatomy | third instar larval stage (with pum⁹)

(Menon et al., 2009)

abnormal neurophysiology (with Df(3R)BSC24)

(Menon et al., 2004)

abnormal neurophysiology (with pum⁹)

(Menon et al., 2004)

abnormal neurophysiology (with pum^bem)

(Schweers et al., 2002)

abnormal neurophysiology (with pum^Msc)

(Menon et al., 2004)

female sterile | recessive

(Schweers et al., 2002)

visible (with pum³)

(Kim et al., 2012)

visible (with pum⁰¹⁶⁸⁸)

(Kim et al., 2012)

visible | recessive

(Kim et al., 2012)

Phenotype Manifest In

embryonic/larval neuromuscular junction (with pum⁹)

(Menon et al., 2004)

embryonic/larval neuromuscular junction (with pum^Msc)

(Menon et al., 2004)

female germline stem cell | somatic clone

(Gilboa and Lehmann, 2004)

macrochaeta | ectopic (with pum³)

(Kim et al., 2012)

macrochaeta | ectopic (with pum⁰¹⁶⁸⁸)

(Kim et al., 2012)

metathoracic tergum (with pum³)

(Kim et al., 2012)

metathoracic tergum (with pum⁰¹⁶⁸⁸)

(Kim et al., 2012)

NMJ bouton (with pum⁹)

(Menon et al., 2004)

NMJ bouton (with pum^Msc)

(Menon et al., 2004)

NMJ bouton | third instar larval stage (with pum⁹)

(Menon et al., 2009)

type I bouton (with pum⁹)

(Menon et al., 2004)

wing vein | ectopic

(Kim et al., 2012)

wing vein | ectopic (with pum⁰¹⁶⁸⁸)

(Kim et al., 2012)

Detailed Description

Statement

Reference

Homozygous pum⁷ escapers have rare extra wing veins. Trans-heterozygous pum⁷/pum⁰¹⁶⁸⁸ flies also display extra wing veins.

The notum of pum⁷/pum⁰¹⁶⁸⁸ escapers display extra macrochaetae. The penetrance of the notum phenotype is incomplete.

The notum of pum⁷/pum³ escapers display extra macrochaetae. The penetrance of the notum phenotype is incomplete.

(Kim et al., 2012)

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)

Homozygous germ line stem cell (GSC) clones are rapidly lost from the adult ovary; GSC loss is seen as early as 4 days after clone induction, and by the 6th or 7th day after clone induction, most ovarioles do not contain a mutant GSC.

(Gilboa and Lehmann, 2004)

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.

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.

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.

pum^Msc/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 found, and the total number of 1b boutons is reduced, while the average area of a type 1b bouton is increased.

Quantal content, in response to evoked transmitter release, is reduced in pum⁹/pum⁷ and pum⁷/Df(3R)BSC24 mutants due to their elevated mEJP amplitudes. An increase in mEJP amplitudes is not found in pum^Msc/pum⁷ larvae do not display such an increase.

mEJP frequency is elevated by 1.8- to 3-fold relative to heterozygote and wild-type controls in pum⁹/pum⁷, pum⁷/pum^Msc and pum⁷/Df(3R)BSC24 mutants.

(Menon et al., 2004)

pum^bem/pum⁷ 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

Enhancer of

Statement

Reference

pum⁷/pum[+] is an enhancer of visible | dominant phenotype of rl^Sem

(Kim et al., 2012)

Phenotype Manifest In

Enhancer of

Statement

Reference

pum⁷ is an enhancer of wing vein | ectopic phenotype of rl^Sem

(Kim et al., 2012)

Additional Comments

Genetic Interactions

Statement

Reference

Heterozygous pum⁷ greatly enhances the dominant extra wing vein phenotype of rl^Sem.

(Kim et al., 2012)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially complements

pum⁰¹⁶⁸⁸

(Parisi and Lin, 1999)

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).

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.

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. pum⁷ was also tested against the pum^bem gravitaxis, flight defect and long term facilitation (LTF) and found not to complement.

(Schweers et al., 2002)

pum⁰¹⁶⁸⁸ partially complements the embryonic lethality of the maternal effect allele pum⁷, resulting in viable yet sterile progeny.

(Parisi and Lin, 1999)

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

pum⁷

(Kim et al., 2012)

pum^ET7

(Olesnicky et al., 2012, Menon et al., 2009, Menon et al., 2004, Gilboa et al., 2003, Chagnovich and Lehmann, 2001, Chagnovich and Lehmann, 2001, Parisi and Lin, 1999, Forbes and Lehmann, 1998, Tearle and Nusslein-Volhard, 1987)

Name Synonyms

Secondary FlyBase IDs

References (13)

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