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General Information
Symbol
Dmel\pum7
Species
D. melanogaster
Name
FlyBase ID
FBal0014078
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
pumET7
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

A9072847T

Reported nucleotide change:

A3890T

Amino acid change:

K949term | pum-PA; K601term | pum-PB; K949term | pum-PC; K949term | pum-PD; K351term | pum-PE; K341term | pum-PF; K949term | pum-PG; K337term | pum-PH

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

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Nucleotide substitution: A3890T.

Mutation truncates the protein before the RNA-binding domain.

Amino acid replacement: ?949term.

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.

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

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.

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

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.

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.

pumMsc/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 pumMsc/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/pumMsc and pum7/Df(3R)BSC24 mutants.

pumbem/pum7 transheterozygotes exhibit a significantly faster long term facilitation (LTF) at the neuromuscular junction than seen in wild-type.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhancer of
Statement
Reference

pum7/pum[+] is an enhancer of visible | dominant phenotype of rlSem

Phenotype Manifest In
Enhancer of
Statement
Reference

pum7 is an enhancer of wing vein | ectopic phenotype of rlSem

Additional Comments
Genetic Interactions
Statement
Reference

Heterozygous pum7 greatly enhances the dominant extra wing vein phenotype of rlSem.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Partially complements
Fails to complement
Comments

Expression of pumScer\UAS.fl at 18oC in postmitotic neurons (Scer\GAL4elav-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 pumScer\UAS.fl at 18oC in muscles (by 'leaky' expression of Scer\GAL4Mhc.Switch.PO in the absence of steroid) has no effect on the phenotypes found in a pum9/pum7 background.

Expression of pumScer\UAS.fl in muscles (Scer\GAL4Mhc.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 pumScer\UAS.fl (Scer\GAL4elav-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 pumScer\UAS.fl in muscles (Scer\GAL4Mhc.Switch.PO), and is unaffected by expression in neurons (under the control of Scer\GAL4elav-C155).

The mEJP amplitude and quantal content phenotypes of pum9/pum7 mutants are not rescued to near wild-type levels by neuronal (Scer\GAL4elav-C155), muscle (Scer\GAL4Mhc.Switch.PO), or dual expression of pumScer\UAS.fl.

Expression of pumScer\UAS.fl in both neurons (Scer\GAL4elav-C155) and muscles (Scer\GAL4Mhc.Switch.PO) rescues the mEJP frequency in pum9/pum7 mutants to near the level seen in pum9/+ heterozygotes.

Expression of pumRBD.Scer\UAS at 18oC in postmitotic neurons (Scer\GAL4elav-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.

Complementation tested against pumbem female sterility phenotype. pum7 was also tested against the pumbem gravitaxis, flight defect and long term facilitation (LTF) and found not to complement.

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

Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer

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

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
References (13)