FlyBase Allele Report: Dmel\sei[1]

General Information

Symbol

Dmel\sei¹

Species

D. melanogaster

Name

FlyBase ID

FBal0015409

Feature type

allele

Associated gene

Dmel\sei

Associated Insertion(s)

Carried in Construct

Also Known As

sei^ts1

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Titus et al., 1997, Wang et al., 1997)

Progenitor genotype

Cytology

Description

The premature stop codon is before the first membrane-spanning segment.

(Titus et al., 1997)

The premature stop codon results in a protein that lacks the hydrophobic core that forms the transmembrane channel.

(Wang et al., 1997)

Amino acid replacement: K282term.

(Titus et al., 1997, Wang et al., 1997)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:24,050,274..24,050,274 [+]

Nucleotide change:

A24050274T

Amino acid change:

K282term | sei-PA; K282term | sei-PB; K282term | sei-PC

Reported amino acid change:

K282term

(Titus et al., 1997, Wang et al., 1997)

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 ( 1 )

Disease

Evidence

References

model of heart conduction disease

CEA

(Ocorr et al., 2017)

CEA with pygo^unspecified

(Ocorr et al., 2017)

model of epilepsy

CEA

(Fergestad et al., 2006)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of epilepsy

is exacerbated by Atpα^DTS1

(Fergestad et al., 2006)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

adult central nervous system

(Fergestad et al., 2006)

dorsal longitudinal indirect flight muscle cell

(Fergestad et al., 2010)

neuromuscular junction

(Lee and Wu, 2010)

neuromuscular junction (with sei²)

(Lee and Wu, 2010)

neuromuscular junction & synapse

(Jarecki and Keshishian, 1995)

neuromuscular junction | heat sensitive

(Lee and Wu, 2010)

neuromuscular junction | temperature conditional

(Barber et al., 2009)

NMJ bouton | ectopic (with sei²)

(Lee and Wu, 2010)

NMJ bouton | increased number

(Lee and Wu, 2010)

NMJ bouton | increased number (with sei²)

(Lee and Wu, 2010)

NMJ bouton | increased number | heat sensitive

(Lee and Wu, 2010)

NMJ bouton | temperature conditional

(Barber et al., 2009)

synapse | ectopic | heat sensitive

(Jarecki and Keshishian, 1995)

Detailed Description

Statement

Reference

Mutant flies show rapid paralysis in response to acute heat stress.

(Zheng et al., 2014)

sei¹ mutant flies are paralysed at elevated temperatures.

(Islam et al., 2013)

Intracellular recordings from mutant dorsal longitudinal muscles show bursts of spontaneous activity at 37[o]C.

(Fergestad et al., 2010)

sei¹/sei² mutants display abundant small boutons, termed 'satellites', budding from the larger primary boutons along the branch axis. Such aberrant outgrowth is found at both type Ib and Is neuromuscular junctions in different muscles, e.g. 6/7 and 4. Upon closer examination, two distinct types of satellites are observed, one without a clear constriction between satellites and primary boutons, resembling yeast budding (type B satellites) and the other with a short but clear constriction or 'neck' (type M satellites). Type M satellites are more abundant than type B satellites in these mutants. There is also an overall increase in synaptic bouton number and terminal branching in these mutants.

sei¹ mutants display significantly enhanced branching patterns along with a robust increase in mature bouton numbers, indicating that sei mutants do not fully prevent type M satellites from entering the successive growth steps.

Exposure to high temperatures (29[o]C) for 2 hours during development fails to induce significant morphological changes in synaptic growth in sei¹ mutants. However, numbers of both B- and M-type satellites are drastically reduced after 5 hours of high temperature. Wild-type synapses do not exhibit this behaviour.

Chronic high temperature treated (>5 hours) sei¹ mutants exhibit an unusual population of terminal branches consisting of thin strings of type M (and occasionally type B) satellites that are absent in controls. These unusual terminal branches contribute to the increased branching complexity in sei¹ mutants. These mutants also exhibit a decrease in primary bouton number.

(Lee and Wu, 2010)

sei¹ mutants display a 60% increase in bouton number at 31[o]C compared with 25[o]C.

(Barber et al., 2009)

sei¹ flies do not show a significantly shortened lifespan. At day 37, these flies exhibit sporadic vacuoles throughout the central nervous system. Exposing these mutants to 40^oC for 3 minutes results in seizures that last for up to a minute followed by paralysis. The severity of the phenotype progresses with age and daily exposure to the restrictive temperature.

(Fergestad et al., 2006)

sei¹ mutants show behavioral convulsions after brief exposure to elevated temperature.

(Hoeffer et al., 2003)

The courtship song parameters interpulse interval, cycles per pulse, interpulse frequency and amplitude of sound are normal in homozygous males at 25^oC.

(Peixoto and Hall, 1998)

Substantial enhancement of spontaneous neural activity.

(Titus et al., 1997)

Heat induced expression of sei^hs.PW in adults is sufficient to restore normal locomotor function.

(Wang et al., 1997)

Homozygous larvae raised at the restrictive temperature (37^oC for 6 hours/day from late embryogenesis through to third larval instar) show an increased frequency of ectopic neuromuscular synapses. Embryos raised at 18^oC or 34^oC show an increased frequency of immature filopodial contacts on muscle fibres 6 and 7 ("collateral sprouts") compared to wild-type embryos raised at the same temperature.

(Jarecki and Keshishian, 1995)

The delivery of an electrical buzz (50-400 msec) to the brain has no significant effect on sei¹ mutant flies.

(Pavlidis and Tanouye, 1995)

Spontaneous dorsal longitudinal muscle responses increase in frequency as the temperature is increased.

(Elkins and Ganetzky, 1990)

At temperatures >40^oC, sei² causes spontaneous activity in recordings from dorsal longitudinal flight muscles, to appear coincidentally with the heat-induced paralysis.

(Kasbekar et al., 1987)

sei² is semidominant in this respect and behavior of hyperploid adults exhibits dose dependence: sei²/sei²/+ flies become paralyzed, at 40^oC, slightly less rapidly than homozygous mutants; sei²/+/+ paralyzed more slowly than sei²/+ but faster than wild-type.

(Jackson et al., 1985)

Recordings of action potentials in the adult giant-fiber pathway reveal no decrement in sei² at 40^oC.

(Nelson and Baird, 1985)

temperature-sensitive

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

sei¹ has paralytic | adult stage phenotype, suppressible by Csas[+]/Csas^MB04236

(Islam et al., 2013)

sei¹ has abnormal neuroanatomy | temperature conditional phenotype, suppressible by Syt4^BA1

(Barber et al., 2009)

NOT Enhancer of

Statement

Reference

sei¹/sei[+] is a non-enhancer of short lived | dominant phenotype of Atpα^DTS1

(Fergestad et al., 2006)

Suppressor of

Statement

Reference

sei¹/sei[+] is a suppressor | partially of paralytic | adult stage phenotype of Csas^MB04236

(Islam et al., 2013)

sei¹ is a suppressor of abnormal neuroanatomy phenotype of slo¹

(Lee and Wu, 2010)

Phenotype Manifest In

Enhanced by

Statement

Reference

sei¹ has phenotype, enhanceable by e(sei)¹

Suppressed by

Statement

Reference

sei¹ has neuromuscular junction | temperature conditional phenotype, suppressible by Syt4^BA1

(Barber et al., 2009)

sei¹ has NMJ bouton | temperature conditional phenotype, suppressible by Syt4^BA1

(Barber et al., 2009)

Suppressor of

Statement

Reference

sei¹ is a suppressor of NMJ bouton | increased number phenotype of slo¹

(Lee and Wu, 2010)

sei¹ is a suppressor of neuromuscular junction phenotype of slo¹

(Lee and Wu, 2010)

Additional Comments

Genetic Interactions

Statement

Reference

One copy of sei¹ partially suppresses the paralytic phenotype seen in Csas^MB04236 mutant flies in response to elevated temperatures.

One copy of Csas^MB04236 partially suppresses the paralytic phenotype seen in sei¹ mutant flies in response to elevated temperatures.

(Islam et al., 2013)

dao^b4 sei¹/dao^g1 sei¹ double mutants show the same time to paralysis on shifting to the restrictive temperature as either single mutant.

(Fergestad et al., 2010)

When compared with single mutants, the combined mutational effects of sei¹/slo¹ are not simply additive, with a further enhancement of some slo, but not sei phenotypes. Satellite abundance is less extreme in sei¹/slo¹ double mutants compared to sei¹ mutants. There is a slight, but not significant, reduction in the numbers of both types B and M satellites. In contrast, the numbers of type M (but not type B) satellites and mature boutons are significantly greater in double mutants compared to slo single mutants.

(Lee and Wu, 2010)

sei¹ ; Syt4^BA1 double mutants exhibit no significant change in bouton number between 25[o]c and 31[o]C.

(Barber et al., 2009)

sei¹/+; Atpα^DTS1/+ double mutants have a similar lifespan to Atpα^DTS1/+ single mutants.

(Fergestad et al., 2006)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

sei¹ is rescued by sei^hs.PW

(Wang et al., 1997)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

Reduced level of saxitoxin binding in head membrane extracts and a decreased sodium current density in cultured embryonic neurons.

(Wang et al., 1995)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

sei¹

sei^TS1

(Buhl et al., 2013, Guan et al., 2011)

sei^ts1

(Ocorr et al., 2017, Zheng et al., 2014, Islam et al., 2013, Guan et al., 2011, Fergestad et al., 2010, Lee and Wu, 2010, Barber et al., 2009, Fergestad et al., 2006, Ghezzi et al., 2004, Peixoto and Hall, 1998, Titus et al., 1997, Wang et al., 1997, Pavlidis and Tanouye, 1995, Wang et al., 1995, Elkins and Ganetzky, 1990)

sei^ts

(Hoeffer et al., 2003)

Name Synonyms

Secondary FlyBase IDs

References (23)

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