FlyBase Allele Report: Dmel\pum[bem]

General Information

Symbol

Dmel\pum^bem

Species

D. melanogaster

Name

FlyBase ID

FBal0083062

Feature type

allele

Associated gene

Dmel\pum

Associated Insertion(s)

P{lacW}pum^bem

Carried in Construct

Key Links

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Stern et al., 1995)

Progenitor genotype

Associated Insertion(s)

P{lacW}pum^bem

Cytology

Description

The P{lacW} transposon in inserted between exons 8 and 9 on the pum transcription unit, about 54kb from exon 8 and 75 kb from exon 9.

(Schweers et al., 2002)

P{lacW} element in the intron between exons 8 and 9 of pum.

(Schweers et al., 2001)

Allele components

Component

Use(s)

Inserted element

P{lacW}

enhancer trap

Encoded product / tool

lacZ

reporter enzyme

Tagged with

Tag:NLS(P)

nuclear protein localization tag

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 Huntington's disease

modeled by Hsap\HTT^{128Q.1-336.UAS}

(Branco et al., 2008)

ameliorates olivopontocerebellar atrophy

modeled by Hsap\ATXN1^82Q.UAS

(Branco et al., 2008)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal flight

(Stern et al., 1995)

abnormal locomotor behavior | semidominant

(Stern et al., 1995)

abnormal neurophysiology

(Mee et al., 2004, Stern et al., 1995)

abnormal neurophysiology (with pum⁷)

(Schweers et al., 2002)

abnormal neurophysiology (with pum⁹)

(Schweers et al., 2002)

semi-fertile

(Stern et al., 1995)

uncoordinated

(Stern et al., 1995)

Phenotype Manifest In

larval DA1 motor neuron

(Mee et al., 2004)

larval RP2 motor neuron

(Mee et al., 2004)

neuromuscular junction

(Stern et al., 1995)

Detailed Description

Statement

Reference

No retinal phenotypes are seen in pum^bem mutant flies.

(Branco et al., 2008)

In pum^bem aCC/RP2 neurons, the magnitude of the persistent component of voltage-gated Na⁺ current is significantly increased relative to controls, while the transient component is significantly different. Endogenous membrane excitability in pum^bem aCC/RP2 neurons, determined by injection of constant current, is increased relative to controls.

(Mee et al., 2004)

pum^bem/pum⁷ and pum^bem/pum⁹ transheterozygotes exhibit a significantly faster long term facilitation (LTF) at the neuromuscular junction than seen in wild-type. Larvae also respond to nerve stimuli with excitatory junctional potentials (ejp's) about 95% of time (as compared to about 80% in controls) in low Ca²⁺ (0.15mM) conditions. At 0.10mM Ca²⁺ an ejp response is seen about 85% of the time (as compared to about 35% in controls).

(Schweers et al., 2002)

Flies exhibit greatly reduced coordination, flight ability and fertility. Mutation affects synaptic transmission at the larval neuromuscular junction via an affect on excitability in the motor neuron: the mutation acts presynaptically to cause increased transmitter release. Larvae exhibit a more rapid onset of augmentation than pum⁺ larvae.

(Stern et al., 1995)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressor of

Statement

Reference

pum^bem/pum[+] is a suppressor of retina phenotype of Hsap\HTT^{128Q.1-336.UAS}, Scer\GAL4^GMR.PU

(Branco et al., 2008)

pum^bem/pum[+] is a suppressor of retina phenotype of Hsap\ATXN1^82Q.UAS, Scer\GAL4^GMR.PU

(Branco et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

One copy of pum^bem suppresses the retinal phenotype seen when Hsap\HTT^{128Q.1-336.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PU.

One copy of pum^bem suppresses the retinal phenotype seen when Hsap\ATXN1^82Q.Scer\UAS is expressed under the control of Scer\GAL4^GMR.PU.

(Branco et al., 2008)

Complementation and Rescue Data

Complements

pum⁰¹⁶⁸⁸

(Schweers et al., 2002)

Fails to complement

pum⁶⁸⁰

(Schweers et al., 2002)

pum⁹

(Schweers et al., 2002)

pum⁷

(Schweers et al., 2002)

pum⁰³²⁰³

(Schweers et al., 2002)

Comments

Complementation tested against pum^bem female sterility phenotype. pum⁰³²⁰³, pum⁷, pum⁹ were also tested against the pum^bem gravitaxis and flight defects, and found not to complement. pum⁷, pum⁹ were also tested against the pum^bem long term facilitation (LTF) defects and found not to complement.

(Schweers et al., 2002)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

6782

w^*; P{lacW}pum^bem/TM6

Notes on Origin

Discoverer

Comments

Reversion tests reveal P{lacW} insertion is responsible for the mutant phenotype.

(Stern et al., 1995)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

bem

(Schweers et al., 2002, Schweers et al., 2001, Schweers et al., 1999)

bem¹

pum^LOF

(Branco et al., 2008)

pum^bem

(Branco et al., 2008, Sofola et al., 2007, Mee et al., 2004)

pum^bemused

(Mee et al., 2004)

Name Synonyms

bemused

(Schweers et al., 2001)

Secondary FlyBase IDs

References (7)

Report Sections

Open Close