FlyBase Allele Report: Dmel\Sh[7]

General Information

Symbol

Dmel\Sh⁷

Species

D. melanogaster

Name

FlyBase ID

FBal0015547

Feature type

allele

Associated gene

Dmel\Sh

Associated Insertion(s)

Carried in Construct

Also Known As

Sh¹⁰²

Key Links

Genomic Maps

JBrowse

Allele class

antimorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

antimorphic allele - genetic evidence

(Gisselmann et al., 1989)

Mutagen

ethyl methanesulfonate

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

Progenitor genotype

Cytology

Polytene chromosomes normal.

(Ferrus et al., 1990)

Description

Lacks the C-terminal ETDV motif.

(Tejedor et al., 1997)

Nonsense mutation in the region between the S5 and S6 transmembrane-spanning domains.

(Tsunoda and Salkoff, 1995)

Mutation in the V region of the Sh locus.

(Ferrus et al., 1990)

Amino acid replacement: W434term.

(Gautam and Tanouye, 1990)

Nucleotide substitution: G?A.

(Gautam and Tanouye, 1990)

Amino acid numbering is relative to the sequence of the H4 cDNA.

(Gautam and Tanouye, 1990)

The position of the Sh¹⁴ mutation is 27bp from the position of the Sh⁷ mutation.

(Lichtinghagen et al., 1990)

G to A base change, amino acid change of Trp to a stop codon.

(Gisselmann et al., 1989)

Point mutation.

(Kamb et al., 1987)

trp⁴⁰⁴ to stop; 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:17,945,264..17,945,264 [-]

Nucleotide change:

G17945264A

Reported nucleotide change:

G?A

Amino acid change:

Reported amino acid change:

W434term

Comment:

TGG (W) to TAG (@) mutation.

(Gautam and Tanouye, 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 ( 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

end plate

(Delgado et al., 1994)

neuromuscular junction

(Schuster et al., 1996)

synapse

(Schuster et al., 1996)

Detailed Description

Statement

Reference

The average amount of daily sleep in Sh⁷ flies is reduced compared to wild type (412 +/- 22 minutes for the mutant flies versus 965 +/- 15 minutes for wild type).

The EC[[50]] value for the volatile anesthetics isoflurane and sevoflurane are significantly increased in the mutant flies compared to wild type.

(Weber et al., 2009)

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. Those animals that exhibit a short sleeping phenotype also exhibited a shorter lifespan than control siblings.

(Circelli et al., 2005)

The frequency of spontaneous synaptic activity in mutants is nearly twice that of wild-type. Excitatory postsynaptic potential (EPSP) duration at the neuromuscular junction is increased by ~42% in mutants. A significant increase in EPSP amplitude is also seen in mutants. Mutant adults exhibit both leg shaking and wing scissoring under ether anaesthetization. This behaviour persists in severed legs. Mutant larvae crawl more slowly than wild-type.

(Mosca et al., 2005)

eag¹/Sh⁷ double mutants cause an increase in neuronal excitability and result in a postembryonic increase in structure (both number of boutons and branches) at the larval neuromuscular junction (NMJ). Bursting pattern of motor neuron action potentials controlling larval locomotion shows near constant activity. Excitatory postsynaptic potentials (EPSP) reveal defective nerve repolarisation. Number of boutons in eag¹/Sh⁷ double mutants is increased compared to wild type due to reduction in Fas2 expression. Bouton number does not increase when Fas2^Scer\UAS.cLa is expressed from Scer\GAL4^E62-2 in eag¹/Sh⁷ larvae.

(Schuster et al., 1996)

More sensitive than the wild-type to the knock-down effect of acute γ-irradiation.

(Megumi et al., 1995)

The inactivating A-type (I_A) K⁺ current is absent in mutant myotubes.

(Tsunoda and Salkoff, 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)

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 no 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)

Flies are significantly more sensitive to acrolein than wild-type flies, and have a higher rate of oxygen consumption.

(Barros et al., 1991)

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

(Ferrus et al., 1990)

I_A is completely eliminated in homozygous third larval instar muscles. I_A is much lower than predicted by simple gene-dosage dependence in Sh⁷/+, Sh⁷/Sh²¹, Sh⁷/Sh⁹ and Sh⁷/Sh⁵ flies.

(Haugland and Wu, 1990)

A-type current is completely absent. Abnormal phenotype is still visible when combined with several doses of the wild type Sh gene.

(Gisselmann et al., 1989)

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

Enhancer of

Statement

Reference

Sh⁷/Sh⁷ is an enhancer of lethal | larval stage | recessive phenotype of dlg1¹⁴

(Thomas et al., 1997)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

dlg1¹⁴ Sh⁷ double homozygotes die as first or second instar larvae.

(Thomas et al., 1997)

The Sh⁷, stnA⁷ double mutant is no more inviable than stnA⁷ alone.

(Petrovich et al., 1993)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Homyk.

Comments

Mutation site is identical to that of Sh¹⁴ and Sh⁵.

(Kamb et al., 1987)

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

(Gisselmann et al., 1989)

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)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Name Synonyms

Secondary FlyBase IDs

References (29)

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