FlyBase Allele Report: Dmel\Shab[2]

General Information

Symbol

Dmel\Shab²

Species

D. melanogaster

Name

FlyBase ID

FBal0083184

Feature type

allele

Associated gene

Dmel\Shab

Associated Insertion(s)

Carried in Construct

Also Known As

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Hegde et al., 1997)

Mutagen

ethyl methanesulfonate

(Chopra et al., 2000, Hegde et al., 1999)

Progenitor genotype

Cytology

Description

Amino acid replacement: V608D.

(Hegde et al., 1999)

Nucleotide substitution: T1823A.

(Hegde et al., 1999)

Mutation is in the pore region of the Shab K[+] channel.

(Hegde et al., 1999)

Mutation in the N-terminal region of the channel coding region.

(Hegde et al., 1997)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:2,941,298..2,941,298 [+]

Nucleotide change:

T2941298A

Reported nucleotide change:

G1304A

Amino acid change:

Reported amino acid change:

V608D

Comment:

The annotated Shab protein is longer by 30aa at the amino terminus than the reported protein (GB:AF084525) accounting for the 30aa difference in the reported and annotated mutation positions.

(Hegde et al., 1999)

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 neurophysiology

(Krause et al., 2008, Vahasoyrinki et al., 2006, Chopra et al., 2000)

abnormal neurophysiology, with Df(3L)HR370

(Chopra et al., 2000)

abnormal neurophysiology (with Shab¹)

(Chopra et al., 2000)

paralytic | heat sensitive (with Shab¹)

(Chopra et al., 2000)

paralytic | recessive | heat sensitive

(Hegde et al., 1999)

Phenotype Manifest In

ommatidium

(Krause et al., 2008)

photoreceptor

(Vahasoyrinki et al., 2006)

Detailed Description

Statement

Reference

Whole cell patch-clamp recordings of dissociated ommatidia from Shab² mutants show 54% of the amplitude of the Shab-mediated slow delayed rectifier current peak with voltage commands to +10mv. In contrast to controls, standard light stimulation of Shab² dissociated ommatidia does not influence the remaining Kv current, with both the Sh-mediated peak current and the following residual currents remaining unaltered.

(Krause et al., 2008)

The I[[K]] voltage-activated K[+] current is reduced compared to wild type in homozygous, Shab¹/Shab² and Shab²/Df(3L)HR370 muscles.

(Chopra et al., 2000)

The delayed rectifier current (I_K) is reduced by 43.6 +/- 3.4% compared to wild-type in Shab² larval muscles.

(Hegde et al., 1999)

Affects the delayed rectifier potassium current as assayed in the larval muscles.

(Hegde et al., 1997)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Shab¹

(Hegde et al., 1999)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Shab²

(Ueda and Wu, 2006, Vahasoyrinki et al., 2006, Chopra et al., 2000)

Shab^z4

(Hegde et al., 1997)

shab²

(Krause et al., 2008)

(Chopra et al., 2000, Hegde et al., 1999)

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

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