FlyBase Allele Report: Dmel\shakB[2]

General Information

Symbol

Dmel\shakB²

Species

D. melanogaster

Name

FlyBase ID

FBal0015575

Feature type

allele

Associated gene

Dmel\shakB

Associated Insertion(s)

Carried in Construct

Also Known As

shak-B²

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Phelan et al., 1996, Krishnan et al., 1993)

loss of function allele

(Sun and Wyman, 1996)

Mutagen

ethyl methanesulfonate

(Phelan et al., 1996, Davies et al., 1987, Miklos et al., 1987)

Progenitor genotype

Cytology

Description

Nucleotide substitution: T?A.

(Zhang et al., 1999)

Amino acid replacement: L?term.

(Zhang et al., 1999)

Mutation is in exon 6.

(Zhang et al., 1999)

Nucleotide substitution: A379T.

(Phelan et al., 1996)

Amino acid replacement: ??term.

(Phelan et al., 1996)

Mutation of the neural transcript.

(Sun and Wyman, 1996)

Lesion maps to the N-terminal region of shakB transcript P2.4 (FBrf0057903).

(Crompton et al., 1995)

Mutation in the neural specific exons.

(Krishnan et al., 1995)

Nucleotide substitution: T378A.

(Krishnan et al., 1993)

Amino acid replacement: L22term.

(Krishnan et al., 1993)

Mutation in signal sequence.

(Krishnan et al., 1993)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:20,792,677..20,792,677 [-]

Nucleotide change:

T20792677A

Reported nucleotide change:

T378A

Amino acid change:

Reported amino acid change:

L22term

Comment:

Mutation is in the signal sequence.

(Krishnan et al., 1993)

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

central nervous system

(Sun and Wyman, 1996)

dorsal longitudinal indirect flight muscle cell

(Krishnan et al., 1995)

giant fibers & synapse

(Jacobs et al., 2000, Allen et al., 1999, Blagburn et al., 1999)

lamina

(Shimohigashi and Meinertzhagen, 1998)

lamina monopolar neuron

(Curtin et al., 2002)

leg

(Davies et al., 1987)

muscle cell of abdominal 2 ventral oblique muscle 4

(Todman et al., 1999)

muscle cell of abdominal 2 ventral oblique muscle 5

(Todman et al., 1999)

muscle cell of abdominal 3 ventral oblique muscle 4

(Todman et al., 1999)

muscle cell of abdominal 3 ventral oblique muscle 5

(Todman et al., 1999)

muscle cell of abdominal 4 ventral oblique muscle 4

(Todman et al., 1999)

muscle cell of abdominal 4 ventral oblique muscle 5

(Todman et al., 1999)

muscle cell of abdominal 5 ventral oblique muscle 4

(Todman et al., 1999)

muscle cell of abdominal 5 ventral oblique muscle 5

(Todman et al., 1999)

muscle cell of abdominal 6 ventral oblique muscle 4

(Todman et al., 1999)

muscle cell of abdominal 6 ventral oblique muscle 5

(Todman et al., 1999)

muscle cell of abdominal 7 ventral oblique muscle 4

(Todman et al., 1999)

muscle cell of abdominal 7 ventral oblique muscle 5

(Todman et al., 1999)

neuron

(Phelan et al., 1996)

photoreceptor cell R1

(Curtin et al., 2002)

photoreceptor cell R2

(Curtin et al., 2002)

photoreceptor cell R3

(Curtin et al., 2002)

photoreceptor cell R4

(Curtin et al., 2002)

photoreceptor cell R5

(Curtin et al., 2002)

photoreceptor cell R6

(Curtin et al., 2002)

photoreceptor neuron

(Curtin et al., 2002)

tergal depressor of trochanter muscle motor neuron & synapse

(Jacobs et al., 2000, Blagburn et al., 1999)

tergotrochanter muscle cell

(Krishnan et al., 1995)

Detailed Description

Statement

Reference

shakB² temperature-exposed mutants (to 32[o]C) are defective for odor-induced habituation.

(Sudhakaran et al., 2012)

In shakB² mutants, receptor potential is normal, indicating normal photoreceptor cell transduction and depolarisation. However shakB² mutants show a reduction in transients, indicating that the lamina is not receiving its normal input from the retina. shakB² flies show on-transients that are approximately 47% of wild-type, whereas the off-transients are approximately 25% of wild-type.

(Curtin et al., 2002)

shakB² flies exhibit a significantly reduced transient electroretinogram signal: on-transients are ~39% of wild-type and off-transients are ~23% of the wild-type level. The receptor potential of shakB² flies is normal. The mutant phenotype of shakB² is slightly more severe when dark-adapted, with both transients ~20% smaller in dark-adapted animals than in light-adapted animals. In shakB² mutant adults, the majority of R1-6 retinal axons terminate in the retina, as in wild-type. A fraction of R1-R6 neurons (in approximately 24% of flies examined) extend beyond the lamina and into the first optic chiasm.

(Curtin et al., 2002)

Only 43% of shakB² mutant flies are able to initiate flight within 60s, compared to 100% of control flies. The average time before spontaneous flight initiation is longer in shakB² flies than in control flies.

(Keller et al., 2002)

The seizure threshold following short wavetrains of high-frequency electrical stimuli (0.5ms pulses at 200Hz for 300ms) is increased in mutant flies (94.7 +/- 10.2 V) compared to controls.

(Kuebler et al., 2001)

Dye coupling of the tergotrochanteral muscle motorneuron (TTMn) to the Giant Fibre (GF) is never established in mutant pupae. Dye coupling of the TTMn to the PSI is also eliminated. No obvious differences in the timing of development or final pupal morphology of TTMn is seen between wild type and shakB² mutants, and the mutant TTMn shows a very similar second stage of sprouting at 60-90 hours after puparium formation as seen in wild type.

(Jacobs et al., 2000)

Dye coupling between the giant fibre and the TTM (tergotrochanteral motoneuron) is abolished.

(Allen et al., 1999)

shakB² flies lack electrical synapses but form chemical-type contacts between the giant fibers (GFs) and the tergotrochanteral motorneuron (TTMn) (electrical synapses are seen between the GF and TTMn in wild-type flies). There is a significantly smaller proportion of membrane length occupied by close appositions in the region of contact between the GF and TTMn, the proportion of normally spaced membranes is unaffected and a significantly greater percentage of the length of the contacts is occupied by wide and synaptic appositions. None of the close appositions in shakB² flies is structurally similar to the electrical type contacts found in wild-type animals. Vesicle size and distribution at the chemical synapse between the GF and TTMn is not significantly altered in shakB² animals. The GF and peripherally synapsing interneuron (PSI) membranes in shakB² animals are usually separated by at least 5nm, although punctate regions of close apposition are occasionally seen. Chemical synaptic sites between the GF and PSI are unaffected. Gap junctions between peripheral glia are unaffected.

(Blagburn et al., 1999)

Carboxyfluorescein injected into abdominal muscle VL3 fails to spread into muscles VO4 and VO5, in contrast to wild type, indicating a loss of gap-junctional connections between these muscles. The membrane potentials of muscles VO4 and VO5 appear not to differ from wild type. These muscles have significantly smaller I_A and I_K currents than wild type. The membrane leak current of muscle VO4 does not appear to be significantly different from wild type. The I_A and I_K currents of muscle VL3 appear normal. The dye coupling between muscles VO4-VO5 and VL3 is rescued in shakB² embryos expressing shakB^{neural.Scer\UAS} under the control of Scer\GAL4^how-24B, with the degree of coupling being somewhat greater than in wild-type embryos. Larval whole-cell evoked membrane currents are also fully rescued.

(Todman et al., 1999)

The number of close-apposition profiles in the gap junctions between photoreceptor terminals in the cartridges of the lamina beneath the compound eye are fewer than wild type: one quarter the number of appositions in distal and mid-lamina depths.

(Shimohigashi and Meinertzhagen, 1998)

The projections of haltere afferents appear normal. Stimulation of haltere afferents evokes electromyograms (EMGs) from the first basalar muscle, although the latency from stimulation to production of EMGs is abnormally long and variable. The synapses between haltere afferents and the ipsilateral motorneuron of the first basalar muscle (B1mn) are abnormal. Action potentials in the B1mn evoked by haltere stimulation occur at abnormally long latencies.

(Trimarchi and Murphey, 1997)

Neurons cannot couple to the giant fibre. Failure to make functional connections cannot be attributed to abnormal giant fibre morphology.

(Phelan et al., 1996)

Giant fibre is disconnected from the antennal nerve, as demonstrated by the failure of cobalt to pass from the antennal nerve to the giant fibre. Cobalt can pass from the antennal nerve to other cells other than the giant fibre.

(Sun and Wyman, 1996)

Neural mutation.

(Crompton et al., 1995)

The DLMs do not respond to brain shocks and the TTMs respond only occasionally and then with a longer than normal latency.

(Krishnan et al., 1995)

Reduction in anterior-posterior extent of the medial branch of the tergotrochantral muscle motorneuron. Posterior branch, and position of the motorneuron cell body are unaffected.

(Baird et al., 1993)

Slightly reduced grooming behavior.

(Phillis et al., 1993)

Flies show a reduced attraction response to sucrose and fructose, an abolition of the attraction response to 0.1M NaCl, and a small increase in tolerance to 0.5M NaCl compared to wild-type. The defect in attraction to sucrose is recessive and is due to a shift in the threshold of detection. The l(1)19Ec⁸ allele interacts with shakB²; the response to sucrose of shakB² l(1)19Ec⁸ flies is intermediate between that of shakB² heterozygotes and homozygotes.

(Balakrishnan and Rodrigues, 1991)

Ethanol is capable of evoking a walk response at concentrations lower than 10%.

(Venard and Stocker, 1991)

Abnormal electrophysiological phenotype. Homozygous flies exhibit uncoordinated leg movements under ether anaesthesia and do not jump to a light off stimulus. shakB² is a recessive allele with respect to the escape response. Heterozygotes are fully viable but exhibit some neuronal defects.

(Baird et al., 1990)

Normal electroretinogram.

(Homyk and Pye, 1989)

The optomotor response appears normal, but the electroretinogram has reduced 'on' and 'off' transients in shakB¹ flies. Flies show uncoordinated leg movements under ether anaesthesia.

(Davies et al., 1987)

Flies heterozygous for shakB² and one of the following deficiencies; Df(1)B57, Df(1)16-3-35, Df(1)A118 or Df(1)HM44, show leg shaking under ether anaesthesia. shakB²/Df(1)17-351 flies sometimes show mild leg shaking behaviour under ether anaesthesia. shakB¹¹/shakB² and shakB²²/shakB² flies show shaking behaviour.

(Miklos et al., 1987)

viable; neurological defect

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

shakB² has abnormal neurophysiology phenotype, suppressible by Scer\GAL4^elav-C155/ogre::shakB^{s1-172:o183-end.UAS}

(Curtin et al., 2002)

shakB² has abnormal neurophysiology phenotype, suppressible by Scer\GAL4^elav-C155/Inx7^UAS.cCa

(Curtin et al., 2002)

shakB² has abnormal neurophysiology phenotype, suppressible by Scer\GAL4^elav-C155/ogre::shakB^{s1-97:o108-end.UAS}

(Curtin et al., 2002)

NOT suppressed by

Statement

Reference

shakB² has abnormal smell perception | heat sensitive phenotype, non-suppressible by TrpA1^UAS.(B).cKa/Scer\GAL4^GH146

(Sudhakaran et al., 2012)

shakB² has abnormal neurophysiology phenotype, non-suppressible by Scer\GAL4^elav-C155/ogre^UAS.ΔC.cCb

(Curtin et al., 2002)

shakB² has abnormal neurophysiology phenotype, non-suppressible by ogre^UAS.ΔC.cCb/Scer\GAL4^ogre.PC

(Curtin et al., 2002)

shakB² has abnormal neurophysiology phenotype, non-suppressible by Scer\GAL4^elav-C155/Rnor\Gja1^UAS.cCa

(Curtin et al., 2002)

Enhancer of

Statement

Reference

shakB² is an enhancer of abnormal smell perception | heat sensitive phenotype of Scer\GAL4^VPN, TrpA1^UAS.(B).cKa

(Sudhakaran et al., 2012)

Suppressor of

Statement

Reference

shakB² is a suppressor | partially of abnormal neurophysiology phenotype of eas¹

(Kuebler et al., 2001)

shakB² is a suppressor of abnormal neurophysiology phenotype of jus^iso6.10

(Kuebler et al., 2001)

shakB² is a suppressor of abnormal neurophysiology phenotype of para^bss1

(Kuebler et al., 2001)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Odorant exposure-induced and projection neuron-induced habituation found in flies expressing TrpA1^{Scer\UAS.(B).cKa} under the control of Scer\GAL4^GH146 is blocked in a shakB² background.

(Sudhakaran et al., 2012)

ogre::shakB^{s1-172:o183-end.Scer\UAS} suppresses the shakB² mutant phenotype effectively, rescuing the on-transient 89% and the off-transient 92% as effectively as shakB^N.Scer\UAS protein. These results show that residues in the first half of shakB(N) are essential for shakB(N)-specific function. ogre::shakB^{s1-172:o183-end.Scer\UAS} suppresses the shakB² mutant phenotype to almost 100% of the level of full-length shakB² protein, with 100% rescue of on-transient levels and 97% rescue of off-transient levels. ogre::shakB^{s1-97:o108-end.Scer\UAS} partially suppresses the shakB² mutant phenotype, rescuing the on-transient 38% as effectively, and the off-transient 31% as effectively as shakB² protein. inx7^Scer\UAS.cCa partially rescues the on- and off-transients in shakB² mutants when driven in a shakB² mutant background with Scer\GAL4^elav-C155 to approximately 55% and 74%, respectively, of the rescue seen when shakB^N.Scer\UAS is driven by Scer\GAL4^elav-C155 in a shakB² mutant background.

(Curtin et al., 2002)

shakB² does not suppress the reduced seizure threshold of bss¹ flies following high-frequency electrical stimuli. However, the double mutants do show a significant increase in the latency to seizure onset following 4V high-frequency stimuli compared to bss¹ single mutants. The double mutants show a reduction in spontaneous seizures during recovery from 4V high-frequency stimuli compared to bss¹ single mutants.

shakB² partially suppresses the reduced seizure threshold of eas¹ flies following high-frequency electrical stimuli.

shakB² suppresses the reduced seizure threshold of sda^iso6.10 flies following high-frequency electrical stimuli, raising the seizure threshold to wild-type levels in the double mutant flies.

(Kuebler et al., 2001)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

shakB² is rescued by Scer\GAL4^elav-C155/shakB^N.UAS

(Curtin et al., 2002)

shakB² is rescued by Scer\GAL4^elav-C155/shakB^N.UAS

(Curtin et al., 2002)

shakB² is rescued by shakB^N.UAS/Scer\GAL4^hs.PB

(Curtin et al., 2002)

shakB² is rescued by Scer\GAL4^how-24B/shakB^neural.UAS

(Todman et al., 1999)

Not rescued by

shakB² is not rescued by shakB^N.UAS/Scer\GAL4^GMR.PF

(Curtin et al., 2002)

shakB² is not rescued by shakB^N.UAS/Scer\GAL4^ogre.PC

(Curtin et al., 2002)

Comments

The shakB² mutant phenotype can be rescued by expression of wild-type shakB^N.Scer\UAS in all neurons from neural birth through adulthood using a Scer\GAL4^elav-C155 enhancer trap. The on-transient is rescued to approximately 95% of wild-type levels and the off-transient is rescued to approximately 76% of wild-type levels.

(Curtin et al., 2002)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Homyk.

Comments

shakB alleles exhibit a complex pattern of complementation.

(Baird et al., 1990)

The defect in attraction to sucrose is fully complemented by run^unspecified.

(Balakrishnan and Rodrigues, 1991)

Eliminates shakB neural function.

(Phelan et al., 1996)

Dye coupling between haltere afferents and the ipsilateral motorneuron of the first basalar muscle, neck-related contralaterally projecting haltere interneurons and wing-related contralaterally projecting haltere interneurons is abolished in shakB² flies.

(Trimarchi and Murphey, 1997)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

ShakB²

(Wu et al., 2019)

shB²

(Curtin et al., 2002)

shak-B

(Balakrishnan and Rodrigues, 1991)

shak-B²

(Kuebler et al., 2001, Todman et al., 1999)

shakB²

(Xiao et al., 2023, Ammer et al., 2022, Zocchi et al., 2022, Kennedy et al., 2020, Li et al., 2018, Kennedy and Broadie, 2017, Matsunaga et al., 2017, Pézier et al., 2016, Wang et al., 2014, Sudhakaran et al., 2012, Phelan et al., 2008)

Name Synonyms

Secondary FlyBase IDs

References (43)

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