FlyBase Allele Report: Dmel\sei[2]

General Information

Symbol

Dmel\sei²

Species

D. melanogaster

Name

FlyBase ID

FBal0015410

Feature type

allele

Associated gene

Dmel\sei

Associated Insertion(s)

Carried in Construct

Also Known As

sei^ts2

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

Amino acid replacement: E490K. Amino acid replacement: S191G.

(Titus et al., 1997)

Amino acid replacement: E490K. Nucleotide substitution: G?A. Changes a negatively charged group to a positively charged one in a region close to the extracellular side of the S5 domain.

(Wang et al., 1997)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:24,050,001..24,050,001 [+]

Nucleotide change:

A24050001G

Amino acid change:

S191G | sei-PA; S191G | sei-PB; S191G | sei-PC

Reported amino acid change:

S191G

Comment:

One of two base changes observed in mutant strain.

(Titus et al., 1997)

point_mutation

2R:24,051,193..24,051,193 [+]

Nucleotide change:

G24051193A

Amino acid change:

E490K | sei-PA; E490K | sei-PB; E490K | sei-PC

Reported amino acid change:

G?A

Reported amino acid change:

E490K

Comment:

One of two base changes observed in mutant strain.

(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)

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

adult brain

(Palladino et al., 2003)

adult central nervous system

(Fergestad et al., 2006)

neuromuscular junction

(Lee and Wu, 2010)

neuromuscular junction (with sei¹)

(Lee and Wu, 2010)

NMJ bouton | ectopic (with sei¹)

(Lee and Wu, 2010)

NMJ bouton | increased number

(Lee and Wu, 2010)

NMJ bouton | increased number (with sei¹)

(Lee and Wu, 2010)

Detailed Description

Statement

Reference

sei² and 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.

sei² heterozygous larvae display a significant increase in the number of mature boutons and type-B satellites, but the number of mature boutons and branch segments remain comparable to wild-type.

(Lee and Wu, 2010)

sei² flies exhibit significant CNS pathology. 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)

At elevated temperatures (37^oC) continuous spiking activity is observed in thoracic readings taken from the dorsal flight muscles of sei² flies, but not in those of wild-type flies. The brains of middle-aged sei² flies show sporadic individual large vacuolar structures that are uncommon in age-matched wild-type flies.

(Palladino et al., 2003)

Substantial enhancement of spontaneous neural activity.

(Titus et al., 1997)

Homozygous larvae raised at the restrictive temperature (37^oC for 6 hours/day from late embryogenesis through to third larval instar) do not show an increased frequency of ectopic neuromuscular synapses.

(Jarecki and Keshishian, 1995)

Flies fall to the bottom of the culture vial within 1 minute at 38^oC. They are unable to walk or stand, but they do kick their legs. The long- and short-latency responses of the dorsal longitudinal muscle remain normal, and have normal refractory periods and following frequencies as the temperature is increased. Spontaneous dorsal longitudinal muscle responses increase in frequency as the temperature is increased.

(Elkins and Ganetzky, 1990)

Flies show reversible paralysis at 39^oC.

(Jackson et al., 1984)

temperature-sensitive

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

sei² has abnormal neuroanatomy phenotype, suppressible by mle^nap-ts1

(Lee and Wu, 2010)

sei² has abnormal neuroanatomy phenotype, suppressible by dnc^M14

(Lee and Wu, 2010)

sei² has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/dnc^UAS.cCa

(Lee and Wu, 2010)

sei² has abnormal neuroanatomy phenotype, suppressible by cac^S/cac^NT27

(Lee and Wu, 2010)

sei² has abnormal neuroanatomy phenotype, suppressible by Fas2^e76

(Lee and Wu, 2010)

sei² has abnormal neuroanatomy phenotype, suppressible by dlg1⁷

(Lee and Wu, 2010)

sei² has abnormal neuroanatomy phenotype, suppressible by Ca-α1D^AR66

(Lee and Wu, 2010)

sei² has abnormal neuroanatomy phenotype, suppressible by cac^S

(Lee and Wu, 2010)

sei² has abnormal neuroanatomy phenotype, suppressible by rut¹

(Lee and Wu, 2010)

NOT Suppressor of

Statement

Reference

sei²/sei² is a non-suppressor of short lived phenotype of comt¹

(Babcock et al., 2015)

sei²/sei² is a non-suppressor of abnormal locomotor behavior | adult stage | progressive | heat sensitive phenotype of comt¹

(Babcock et al., 2015)

sei²/sei² is a non-suppressor of abnormal neuroanatomy | adult stage | heat sensitive phenotype of comt¹

(Babcock et al., 2015)

sei²/sei² is a non-suppressor of short lived | heat sensitive phenotype of comt⁴

(Babcock et al., 2015)

Phenotype Manifest In

Enhanced by

Statement

Reference

sei² has phenotype, enhanceable by e(sei)¹

Suppressed by

Statement

Reference

sei² has NMJ bouton | increased number phenotype, suppressible by Fas2^e76

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by Fas2^e76

(Lee and Wu, 2010)

sei² has NMJ bouton | increased number phenotype, suppressible by dlg1⁷

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by dlg1⁷

(Lee and Wu, 2010)

sei² has NMJ bouton | increased number phenotype, suppressible by Ca-α1D^AR66

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by Ca-α1D^AR66

(Lee and Wu, 2010)

sei² has NMJ bouton | increased number phenotype, suppressible by cac^S

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by cac^S

(Lee and Wu, 2010)

sei² has NMJ bouton | increased number phenotype, suppressible by rut¹

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by rut¹

(Lee and Wu, 2010)

sei² has NMJ bouton | increased number phenotype, suppressible by mle^nap-ts1

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by mle^nap-ts1

(Lee and Wu, 2010)

sei² has NMJ bouton | increased number phenotype, suppressible by dnc^M14

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by dnc^M14

(Lee and Wu, 2010)

sei² has NMJ bouton | increased number phenotype, suppressible by Scer\GAL4^elav-C155/dnc^UAS.cCa

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by Scer\GAL4^elav-C155/dnc^UAS.cCa

(Lee and Wu, 2010)

sei² has NMJ bouton | increased number phenotype, suppressible by cac^S/cac^NT27

(Lee and Wu, 2010)

sei² has neuromuscular junction phenotype, suppressible by cac^S/cac^NT27

(Lee and Wu, 2010)

NOT Suppressor of

Statement

Reference

sei²/sei² is a non-suppressor of dopaminergic PPL1 neuron | heat sensitive phenotype of comt¹

(Babcock et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

sei²/sei² does not significantly change the severity of the shortened lifespan, locomotor defects, or loss of dopaminergic neuron phenotypes of comt¹/comt¹ mutants at 29[o]C.

sei²/sei² does not significantly change the severity of the shortened lifespan phenotype of comt⁴/comt⁴ mutants at 29[o]C.

(Babcock et al., 2015)

Fas2^e76/sei² double mutants exhibit significantly reduced satellite levels compared to sei² single mutants, more pronouncedly for type M than type B satellites. The frequency of mature boutons and complexity of terminal branches is also affected in these mutants. Bouton number is reduced in these mutants.

dlg1⁷/sei² mutants exhibit reduced levels of type B and type M satellites, close to wild-type levels, compared to sei² single mutants. This reduction correlates with reduced levels of mature boutons and with simpler branching patterns.

A Ca-α1D^AR66 mutant background suppresses both type B and type M satellites in Ca-α1D^AR66; sei² double mutants nearly to wild-type levels. Such suppression in satellite formation leads to the morphology of these double mutants to resemble Ca-α1D^AR66 single mutants.

A cac^S or cac^S/cac^NT27 background suppresses satellite frequency in sei² mutants. Double mutants display a drastic decrease in both type B and M satellites, along with an even more pronounced reduction in the number of mature boutons and terminal branches.

rut¹; sei² double mutants display selective suppression of type M, but not type B satellites, along with drastically reduced mature bouton levels and branch formation.

A mle^nap-ts1 mutant background suppresses synaptic satellite growth, particularly type M satellite growth, in mle^nap-ts1; sei² mutants.

A dnc^M14 mutant background reduces the frequency of type M satellites and mature boutons in dnc^M14; sei² double mutants.

Pre-synaptic expression of dnc^Scer\UAS.cCa (under the control of Scer\GAL4^elav-C155 in a sei² background severely reduces the number of type M, but not type B, satellites. There is also a milder decrease in primary bouton and branch numbers.

(Lee and Wu, 2010)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

Saxitoxin binding sites appear to be altered structurally in mutant flies at 39^oC.

(Jackson et al., 1984)

Altered affinity for saxitoxin binding to sodium channels.

(Wang et al., 1995)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

sei²

sei^TS2

(Babcock et al., 2015)

sei^ts2

(Ocorr et al., 2017, Lee and Wu, 2010, Fergestad et al., 2006, Palladino et al., 2003, Titus et al., 1997, Wang et al., 1997, Wang et al., 1995, Elkins and Ganetzky, 1990, Jackson et al., 1984)

Name Synonyms

Secondary FlyBase IDs

References (12)

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