FlyBase Allele Report: Dmel\Sh[9]

General Information

Symbol

Dmel\Sh⁹

Species

D. melanogaster

Name

FlyBase ID

FBal0015549

Feature type

allele

Associated gene

Dmel\Sh

Associated Insertion(s)

Carried in Construct

Also Known As

Sh^E62

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Haugland and Wu, 1990, Lichtinghagen et al., 1990)

Mutagen

ethyl methanesulfonate

(de la Pompa, 1994, Kamb et al., 1987)

Progenitor genotype

Cytology

Polytene chromosomes normal.

(Ferrus et al., 1990)

Description

Point mutation.

(Hevers and Hardie, 1995, Kamb et al., 1987)

Point mutation preventing splicing of the intron between exons 19 and 20. This disrupts function in all class 1 transcripts.

(Hardie et al., 1991)

Mutation in the V region of the Sh locus.

(Ferrus et al., 1990)

Nucleotide substitution G to A at the intron/exon 20 border, that changes the AG acceptor site to AA. The intron between exons 19 and 20 is not spliced out resulting in a predicted protein which lacks the last 103 amino acids of the wild-type protein and has an aberrant C-terminus of 5 amino acids encoded by part of the unspliced intron sequence.

(Lichtinghagen et al., 1990)

sequenced by Lichtinghagen et al., 1990 splicing defect at gly⁴⁸⁰; 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:17,930,438..17,930,438 [-]

Nucleotide change:

G17930438A

Reported nucleotide change:

G?A

Comment:

G to A mutation in the splice acceptor site at the intron/exon 20 border.

(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 ( 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

abnormal behavior

(Ferrus et al., 1990, Gisselmann et al., 1989)

abnormal behavior | dominant

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

abnormal chemosensory behavior

(Walcourt et al., 2001)

abnormal neurophysiology

(Ferrus et al., 1990, Haugland and Wu, 1990)

uncoordinated

(Ganetzky and Wu, 1982)

Phenotype Manifest In

Detailed Description

Statement

Reference

Homozygous Sh⁹ females exhibit a marked increase in sensitivity to halothane in an electrophysiologically monitored escape response. Specifically, halothane EC[[50]] is increased in Sh⁹ stocks by 70% over that in wild-type control females. Heterozygous Sh⁹ females exhibit a halothane potency that is intermediate between the homozygous mutant and controls. Male Sh⁹ mutants produce a very large increase in EC[[50]] (128% compared to Canton-S flies).

(Walcourt et al., 2001)

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

(Hevers and Hardie, 1995)

Photoreceptor A channels have abnormal inactivation kinetics; the rate of inactivation is slower than wild-type.

(Hardie et al., 1991)

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

(Ferrus et al., 1990)

I_A is reduced to about 28% of normal in homozygous third larval instar muscles. I_A is much lower than predicted by simple gene-dosage dependence in Sh⁹/Sh¹⁴ or Sh⁹/Sh⁷ flies.

(Haugland and Wu, 1990)

A-type current is altered but not abolished.

(Gisselmann et al., 1989)

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)

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

Phenotype Manifest In

Suppressed by

Statement

Reference

Sh⁹ has phenotype, suppressible by para^lk5

(Stern et al., 1990)

Additional Comments

Genetic Interactions

Statement

Reference

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 (0)

Notes on Origin

Discoverer

Ferrus/Ganetzky.

Comments

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 distally adjacent to that of Sh⁵, Sh⁷ and Sh¹⁴.

(Kamb et al., 1987)

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

(Gisselmann et al., 1989)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Sh⁹

Sh^E62

(Walcourt et al., 2001, Rogero et al., 1997, Hevers and Hardie, 1995, Lin and Nash, 1995, de la Pompa, 1994, Hardie et al., 1991, Ferrus et al., 1990, Haugland and Wu, 1990, Lichtinghagen et al., 1990, Stern et al., 1990, Gisselmann et al., 1989, Kamb et al., 1987, Ganetzky and Wu, 1982)

Name Synonyms

Secondary FlyBase IDs

References (16)

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