FlyBase Allele Report: Dmel\Shab[1]

General Information

Symbol

Dmel\Shab¹

Species

D. melanogaster

Name

FlyBase ID

FBal0083183

Feature type

allele

Associated gene

Dmel\Shab

Associated Insertion(s)

Carried in Construct

Also Known As

z66

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

Nucleotide substitution: G1304A. Amino acid replacement: R435Q. The mutation occurs at the last residue before the protein enters into the membrane as the first transmembrane segment (S1).

(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:2,925,475..2,925,475 [+]

Nucleotide change:

G2925475A

Reported nucleotide change:

G1304A

Amino acid change:

Reported amino acid change:

R435Q

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)

abnormal neurophysiology, with Df(3L)HR370

(Chopra et al., 2000)

abnormal neurophysiology (with Shab²)

(Chopra et al., 2000)

abnormal neurophysiology | recessive

(Yao and Wu, 2001)

abnormal neurophysiology | semidominant

(Chopra et al., 2000)

paralytic | heat sensitive, with Df(3L)HR370

(Chopra et al., 2000)

paralytic | heat sensitive (with Df(3L)M21)

(Chopra et al., 2000)

paralytic | heat sensitive (with Shab²)

(Chopra et al., 2000)

paralytic | recessive | heat sensitive

(Hegde et al., 1999)

paralytic | semidominant | heat sensitive

(Chopra et al., 2000)

Phenotype Manifest In

neuron

(Yao and Wu, 2001)

ommatidium

(Krause et al., 2008)

photoreceptor

(Vahasoyrinki et al., 2006)

Detailed Description

Statement

Reference

Whole cell patch-clamp recordings of dissociated ommatidia from Shab¹ show a 13% reduction in current and the Shab-mediated slow delayed rectifier current peak is not influenced by standard light stimulation, compared to controls.

(Krause et al., 2008)

Shab¹ photoreceptors have an input resistance that is significantly reduced from that of wild-type. This decreased input resistance maintains the sensitivity of the photoreceptors to dynamic light intensity fluctuations.

(Vahasoyrinki et al., 2006)

Most of the steady-state currents are eliminated in Shab¹ mutant neurons.

(Yao and Wu, 2001)

Homozygous adults show a mild paralysis (becoming immobile and falling on their backs) in 1-2 minutes at 38[o]C. They recover in 4-5 minutes when shifted to room temperature. At 39[o]C, the flies undergo intense seizure, raising their wings and becoming deeply paralysed in 1-2 minutes. In this case, the recovery takes more than 15 minutes.

Heterozygous flies do not paralyse for up to 30 minutes at 38[o]C, but show a mild paralysis within 3 minutes at 39[o]C, recovering immediately on shifting to room temperature.

The I[[K]] voltage-activated K[+] current is reduced by about 45% in Shab¹ muscles compared to controls, while the I[[A]] voltage-activated K[+] current is unaffected. The I[[CF]] Ca[2+]-activated K[+] current is not disrupted in Shab¹ animals.

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

(Chopra et al., 2000)

The delayed rectifier current (I_K) is reduced by 46.0 +/- 3.0% compared to wild-type in Shab¹ larval muscles. No significant change in the fast transient voltage-activated K⁺ current (I_A), the fast transient calcium-activated K⁺ current (I_CF), the slow sustained calcium-activated K⁺ current (I_CS) or the total Ca²⁺ current is seen.

(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

Shab²

(Chopra et al., 2000)

Shab³

(Hegde et al., 1999)

Shab²

(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

Shab¹

(Ueda and Wu, 2006, Vahasoyrinki et al., 2006, Yao and Wu, 2001, Chopra et al., 2000)

Shab^z66

(Hegde et al., 1997)

shab¹

(Krause et al., 2008)

z66

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

Name Synonyms

Secondary FlyBase IDs

References (7)

Report Sections

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