FlyBase Allele Report: Dmel\Sh[5]

General Information

Symbol

Dmel\Sh⁵

Species

D. melanogaster

Name

FlyBase ID

FBal0015545

Feature type

allele

Associated gene

Dmel\Sh

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(de la Pompa, 1994, Balakrishnan and Rodrigues, 1991, Gautam and Tanouye, 1990, Kamb et al., 1987)

Progenitor genotype

Cytology

Polytene chromosomes normal.

(Ferrus et al., 1990)

Description

Point mutation within the S5 region.

(Hevers and Hardie, 1995)

Missense mutation in the region connecting the proposed transmembrane segment S5 of the Sh K⁺ channel proteins.

(de la Pompa, 1994)

Mutation in the V region of the Sh locus.

(Ferrus et al., 1990)

Nucleotide substitution: T to A. Amino acid replacement: F401I. In the leucine zipper region.

(Gautam and Tanouye, 1990)

Nucleotide substitution of T to A in exon 14, which replaces a Phe with an Ile.

(Lichtinghagen et al., 1990)

Point mutation.

(Kamb et al., 1987)

sequenced by Lichtinghagen et al., 1990 phe³⁷¹ to ile; relative to the deduced H37 protein (Kamb, Tseng-Crank and Tanouye, 1988).

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:17,949,936..17,949,936 [-]

Nucleotide change:

T17949936A

Reported nucleotide change:

T?A

Amino acid change:

Reported amino acid change:

F387I

(Gautam and Tanouye, 1990, Lichtinghagen et al., 1990)

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 episodic ataxia type 1

CEA

(Servettini et al., 2023)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Servettini et al., 2023)

KCNA1:p.Phe331Ile

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

episodic ataxia, type 1

External database links

ClinVar: 1501245

Comments concerning this variant

KCNA2:p.Phe333Leu

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

External database links

ClinVar: 575248

Comments concerning this variant

Disease model in flies has not been developed.

(FlyBase curators, 2019-)

Phenotypic Data

Phenotypic Class

abnormal behavior

(Circelli et al., 2005, Zhong and Wu, 1993, Ferrus et al., 1990, Gisselmann et al., 1989, Cowan and Siegel, 1984)

abnormal behavior | dominant

(Kamb et al., 1987, Ganetzky and Wu, 1982)

abnormal behavior | male

(Rogina and Helfand, 1997)

abnormal locomotor behavior | adult stage | female

(Kaas et al., 2016)

abnormal locomotor behavior | adult stage | female | conditional

(Kaas et al., 2016)

abnormal neurophysiology

(Kuebler et al., 2001, Sharma and Kumar, 1999, Engel and Wu, 1998, Ferrus et al., 1990)

abnormal neurophysiology | adult stage

(Servettini et al., 2023)

abnormal taste perception | recessive

(Balakrishnan and Rodrigues, 1991)

chemical resistant | dominant

(Sharma and Kumar, 1999)

chemical sensitive

(Wang et al., 2000)

chemical sensitive | recessive

(Humphreys et al., 1996, Leibovitch et al., 1995)

decreased rate of adult locomotory behavior | progressive

(Servettini et al., 2023)

increased speed of aging

(Rogina and Helfand, 1995)

short lived

(Humphreys et al., 1996, Rogina and Helfand, 1996, Trout and Kaplan, 1981)

short lived | dominant | female limited

(Trout and Kaplan, 1981)

uncoordinated

(Ganetzky and Wu, 1982)

Phenotype Manifest In

dorsal longitudinal indirect flight muscle

(Servettini et al., 2023)

end plate

(Delgado et al., 1994)

giant fiber neuron

(Kuebler et al., 2001)

Detailed Description

Statement

Reference

Sh⁵ homozygous adults exhibit locomotion defects, including increased movement time spent in the centre of a circular space (instead of movement mostly along the edges) and significantly increased velocities of head and hind-leg movements under ether anesthesia (the leg movements are continuous and do not stop immediately after severance from the body), as compared to controls.

(Kaas et al., 2016)

Sh⁵ mutant flies display largely normal flight parameters, with wing beat frequency, DLM firing rate, and inter-spike-interval CV not differing significantly from wild-type.

(Iyengar and Wu, 2014)

Mutant flies exhibit a decrease in the daily sleep amount. This is mainly due to a decrease in the duration of sleep episodes rather than in their number. This phenotype is very sensitive to background modifiers.

(Circelli et al., 2005)

The seizure threshold following short wavetrains of high-frequency electrical stimuli (0.5ms pulses at 200Hz for 300ms) is slightly increased in mutant flies (51.3 +/- 6.1 V) compared to controls.

The threshold for activation of the giant fiber in mutant animals following single stimulus pulses (0.2ms duration, 0.5Hz) is not significantly different from that of wild type.

The giant fiber following frequency (the maximum stimulation frequency that the giant fiber pathway can reliably follow) is reduced compared to wild type in mutant animals.

(Kuebler et al., 2001)

When exposed to 10mM paraquat for 48hr, mutants show 30% survival (wild type shows 97% survival).

(Wang et al., 2000)

Sh⁵ flies treated with sodium valproate (NaVP) do not show a reduction in body weight, in contrast to wild-type flies. Sh⁵ heterozygotes also show an increase in resistance to lethality caused by NaVP compared to wild type. Sh⁵ flies treated with phenytoin sodium show an increase in body weight, as is seen in wild-type flies.

(Sharma and Kumar, 1999)

Habituation of the giant fiber escape pathway occurs more rapidly in Sh⁵ flies than in wild-type. The long-latency response is delayed slightly. The short-latency response of the tergotrochanteral muscle is delayed. Habituation in Hk¹ Sh⁵ double mutants is markedly retarded, as in Hk¹ single mutants, rather than more rapid as in Sh⁵ single mutants.

(Engel and Wu, 1998)

Hemizygous males exhibit an anesthesia-induced leg shaking phenotype, females appear wild type.

(Rogina and Helfand, 1997)

Homozygous adults are more sensitive to paraquat than control flies. Homozygous adults have a reduced lifespan compared to wild-type flies.

(Humphreys et al., 1996)

The life expectancy of Sh⁵ hemizygous males is shortened, as compared to controls.

(Rogina and Helfand, 1996)

Application of serotonin failed to alter modulation of the potassium channel in a semi-intact preparation of the retina.

(Hevers and Hardie, 1995)

Homozygotes show increased sensitivity to chloroform and trichloroethylene, but not to halothane in an inebriometer assay (an assay of geotactic and postural behaviour) compared to wild-type flies.

(Leibovitch et al., 1995)

Mutant flies show a shortened life span due to a normal, but accelerated, course of aging at 18^oC and 25^oC.

(Rogina and Helfand, 1995)

Two-electrode voltage clamp technique is used to measure end-plate currents in larval neuromuscular junctions. Currents are four fold larger than wild type, lack post-tetanic potentiation (PTP) but could undergo facilitation. PTPs could be restored by addition of Cd²⁺.

(Delgado et al., 1994)

Vibration of appendages in spaced bursts. Double mutant combinations with tta¹ show slight suppression of the Sh phenotype. Sh phenotype is enhanced by the presence of one extra copy of tta.

(de la Pompa, 1994)

eag^4PM Sh⁵ double mutant flies do not show spontaneous activity of the dorsal longitudinal and dorsoventral indirect flight muscles when at rest.

(Engel and Wu, 1992)

Heterozygotes show ether induced leg shaking. Hemizygous males show a reduced preference for sucrose compared to wild-type in feeding preference tests, probably due to a shift in the threshold of detection. Flies show an enhanced attraction to 100mM NaCl and an increased tolerance to 0.5M NaCl and 0.2M KCl compared to wild-type. The increased tolerance to 0.5M NaCl and 0.2M KCl is due to an increase in the threshold of repulsion. The firing patterns of the labellar chemosensory neurons in response to sucrose, NaCl and KCl are normal.

(Balakrishnan and Rodrigues, 1991)

The depolarisation of the Sh⁵ current steady-state inactivation curve is enhanced compared to wild-type in cells from the thoracic ganglia of very late stage pupae.

(Baker and Salkoff, 1990)

Flies manifest chronic vibration of their appendages as well as abnormal action potentials.

(Ferrus et al., 1990)

The I-V relation and kinetics of I_A are altered in homozygous third larval instar muscles, probably indicating altered properties of the I_A channel. I_A is much lower than predicted by simple gene-dosage dependence in Sh⁵/Sh¹⁴ or Sh⁵/Sh⁷ flies.

(Haugland and Wu, 1990)

The voltage required to activate and inactivate the A₁ channel is increased by approximately 20mV, and the steepness of the voltage dependence of steady-state inactivation is decreased in cultured embryonic Sh⁵ myotubes.

(Zagotta and Aldrich, 1990)

A-type current is altered but not abolished.

(Gisselmann et al., 1989)

Sh⁵ males show no conditioning of courtship behaviour. Sh⁵ mle^nap-ts1 double mutant males or Sh⁵ males treated with tetrodotoxin are essentially normal in their acquisition of conditioned courtship behaviour, but are defective in retention of the conditioned response.

(Cowan and Siegel, 1984)

Ether-dependent leg shaking and wing scissoring. Chloroform, ethyl acetate and carbon dioxide etherization does not elicit shaking behavior, though nitrogen and triethylkamine etherization does. Unetherized, older flies show uncoordinated walking behavior, and stand quivering on the bottom of the culture bottle.

(Ganetzky and Wu, 1982)

Hemizygous males show a 18% reduction in lifespan. Heterozygous females show only a slight reduction in lifespan.

(Trout and Kaplan, 1981)

abnormal leg shaking under ether anesthesia; abnormal A-type potassium currents in larval muscle and/or pupal flight muscle; abnormal action potentials in the adult cervical giant fiber; abnormal synaptic transmission at the larval neuromuscular junction and multiple firing of larval motoneurons.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Sh⁵ has increased rate of movement phenotype, enhanceable by qvr¹

(Wang et al., 2000)

Sh⁵ has chemical sensitive phenotype, enhanceable by qvr¹

(Wang et al., 2000)

NOT Enhanced by

Statement

Reference

Sh⁵ has visible phenotype, non-enhanceable by qvr¹

(Wang et al., 2000)

Enhancer of

Statement

Reference

Sh⁵ is an enhancer of chemical sensitive phenotype of qvr¹

(Wang et al., 2000)

Sh⁵ is an enhancer of increased rate of movement phenotype of qvr¹

(Wang et al., 2000)

NOT Enhancer of

Statement

Reference

Sh⁵ is a non-enhancer of visible phenotype of qvr¹

(Wang et al., 2000)

Other

Statement

Reference

Sh⁵, smi26D¹/smi26D[+] has abnormal locomotor behavior | dominant | female phenotype

(Anholt et al., 2003)

Sh⁵, smi26D¹/smi26D[+] has abnormal smell perception | dominant | female phenotype

(Anholt et al., 2003)

Sh⁵, smi26D¹ has abnormal locomotor behavior | dominant | female phenotype

(Anholt et al., 2003)

Sh⁵, smi26D¹ has abnormal smell perception | dominant | female phenotype

(Anholt et al., 2003)

Sh⁵, Sod1ⁿ¹ has viable phenotype

(Humphreys et al., 1996)

Sh⁵, eag¹ has visible phenotype

(Zhong and Wu, 1993)

Sh⁵, eag¹ has abnormal behavior phenotype

(Zhong and Wu, 1993)

Sh⁵, eag²⁴ has visible phenotype

(Zhong and Wu, 1993)

Sh⁵, eag²⁴ has abnormal behavior phenotype

(Zhong and Wu, 1993)

Phenotype Manifest In

Suppressed by

Statement

Reference

Sh⁵ has phenotype, suppressible by para^lk5

(Stern et al., 1990)

NOT Enhancer of

Statement

Reference

Sh⁵ is a non-enhancer of wing phenotype of Hk¹

(Wang et al., 2000)

Other

Statement

Reference

Sh⁵, eag¹ has wing phenotype

(Zhong and Wu, 1993)

Sh⁵, eag²⁴ has wing phenotype

(Zhong and Wu, 1993)

Additional Comments

Genetic Interactions

Statement

Reference

No wings down phenotype was observed for qvr¹ in combination with Sh²¹, Sh⁵ or Sh¹⁶ though leg shaking is more vigorous in these double mutants than in either of the Sh of qvr single mutants alone.

(Wang et al., 2000)

eag¹ Sh⁵ and eag²⁴ Sh⁵ double mutants exhibit vigorous leg-shaking behaviour under ether anaesthesia. Many exhibit a wings down phenotype. High frequency, spontaneous EJPs of a greater amplitude are seen at larval neuromuscular junctions and spontaneous discharges of EJPs or action potentials can be recorded in adult flight muscles.

(Zhong and Wu, 1993)

The leg shaking phenotype is suppressed by para^lk5.

(Stern et al., 1990)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

111

Sh⁵

Kyoto

105741

Sh⁵

Notes on Origin

Discoverer

Kaplan.

Comments

The reduced lifespan focus appears to map to the anterior ventral region of the blastoderm, possibly to the anterior part of the thoracic ganglion. This focus is domineering; mosaic flies containing one mutant and one wild-type focus have a reduced lifespan.

(Trout and Kaplan, 1981)

Phenotype suppressed by mle^nap-ts1, even at permissive temperatures. Shaking and suppressed phenotypes are evident in severed legs as well as in the whole organism.

(Ganetzky and Wu, 1982)

Mutation site is identical to that of Sh⁷ and Sh¹⁴.

(Kamb et al., 1987)

Allelic series of Sh defects: Sh⁷ > Sh¹⁴ > Sh¹⁶ > Sh⁵ > Sh⁹.

(Gisselmann et al., 1989)

Sh¹⁴ and Sh⁵ are not separable by recombination so are suggested to be closely linked point mutations.

(Ferrus et al., 1990)

Kinetic analysis of single Sh⁵ channels shows that the transition rates into and out of the open state are not significantly affected by the Sh⁵ mutation, but the latency until the channel opens following a voltage step is increased at low voltages.

(Zagotta and Aldrich, 1990)

The severity of the sucrose preference defect shows the following order: Sh⁸ > Sh⁵ = Sh⁷ > Sh²⁵ > T(1;Y)V7 > Sh¹⁴. The degree of tolerance to 0.5M NaCl shows the order: Sh⁸ > Sh⁷ = Sh⁵ > T(1;Y)V7 = Sh²⁵ > Sh¹⁴. The degree of tolerance to 0.2M KCl shows the order: Sh⁸ = Sh⁷ = Sh¹⁴ > T(1;Y)V7 > Sh⁵.

(Balakrishnan and Rodrigues, 1991)

Mutation shifts the voltage dependence of the mutated channel.

(Zhong and Wu, 1993)

Electrophysiological analysis reveals repetitive firings of burst-shaped action potentials.

(de la Pompa, 1994)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Sh⁵

(Servettini et al., 2023, Harrigan et al., 2020, Kasuya et al., 2019, Davis et al., 2018, Agrawal et al., 2017, Kaas et al., 2016, Iyengar and Wu, 2014, Kuebler et al., 2001)

shaker⁵

(Axelrod et al., 2023)

Name Synonyms

Secondary FlyBase IDs

References (53)

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