FlyBase Allele Report: Dmel\SiaT[S23]

General Information

Symbol

Dmel\SiaT^S23

Species

D. melanogaster

Name

FlyBase ID

FBal0246661

Feature type

allele

Associated gene

Dmel\SiaT

Associated Insertion(s)

Carried in Construct

Also Known As

DSiaT^S23

Key Links

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

recombination

(Repnikova et al., 2010)

ends-in gene targeting

(Repnikova et al., 2010)

Progenitor genotype

Cytology

Description

Two premature stop codons have been introduced into ST6Gal. The upstream stop codon is expected to prematurely terminate translation after the first 17 codons and the downstream stop codon is predicted to result in a protein that is truncated in the middle of its S-sialyl motif and lacks the 84 most C-terminal amino acid residues. Each stop codon introduces a restriction site (BspHI and NheI).

(Repnikova et al., 2010)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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

embryonic/larval neuromuscular junction

(Repnikova et al., 2010)

NMJ bouton | larval stage

(Repnikova et al., 2010)

Detailed Description

Statement

Reference

ST6Gal^L22/ST6Gal^S23 mutant flies are paralysed at elevated temperatures.

ST6Gal^L22/ST6Gal^S23 mutant flies show locomotor defects; they take an increased amount of time to right themselves when momentarily knocked down by a gentle agitation.

(Islam et al., 2013)

Homozygotes have significantly reduced longevity compared to controls.

Mutant larvae have pronounced locomotor defects; mutant larvae crawl significantly slower than wild-type larvae (as measured by the frequency of body muscle contractions and the distance traveled per contraction). The mutant larvae make many more turns compared to wild-type controls.

Mutant adults have impaired coordination and are unable to promptly right themselves after being knocked to the bottom of the vial by gentle agitation. This defect increase rapidly with age.

Mutant adults become paralysed at 38[o]C within a few minutes. This phenotype is reversible, with the flies recovering fully within 10-15 minutes after shifting back to 25[o]C. The severity of the temperature sensitive paralytic phenotype increases with age.

Mutant flies show decreased sensitivity to the TTX neurotoxin and to DDT than control flies.

Mutant larvae have a decreased number of muscle synaptic branches and boutons at the neuromuscular junction (NMJ) of the dorsal abdominal muscle 1 (which is innervated by motor neuron MN1-Ib). The resting membrane potential of dorsal abdominal muscle 1 in mutant larvae is not significantly different from that of wild-type controls. The amplitude of the evoked EJP is significantly decreased compared to wild type at the mutant NMJ of dorsal abdominal muscle 1 (innervated by motor neuron MN1-Ib), but is normal at the muscle 6/7 NMJ (innervated by motor neuron MN6/7-Ib). The amplitude and frequency of spontaneous mini-EJPs is normal in the mutant larvae. The reduced amplitude of evoked EJPs at the mutant NMJ of dorsal abdominal muscle 1 is rescued by high levels of external Ca[2+].

(Repnikova et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

SiaT^S23/SiaT^L22 has abnormal locomotor behavior phenotype, enhanceable by Csas^MB04236/Df(3L)XS2182

(Islam et al., 2013)

SiaT^S23 has paralytic | heat sensitive phenotype, enhanceable by para^lk5/para[+]

(Repnikova et al., 2010)

SiaT^S23 has paralytic | heat sensitive phenotype, enhanceable by para[+]/para^ts1

(Repnikova et al., 2010)

Enhancer of

Statement

Reference

SiaT^S23/SiaT^L22 is an enhancer of abnormal locomotor behavior phenotype of Csas^MB04236/Df(3L)XS2182

(Islam et al., 2013)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

ST6Gal^L22/ST6Gal^S23 enhances the locomotor defects seen in Csas^MB04236/Df(3L)XS2182 mutant flies. The time taken for flies to right themselves after being knocked over is extended compared to either mutant alone.

(Islam et al., 2013)

The severity of the temperature sensitive paralytic phenotype seen in ST6Gal^S23/ST6Gal^S23 flies is enhanced by para^lk5/+ and by para^ts1/+; in both cases the time for onset of paralysis at 38[o]C is reduced in the double mutant flies compared to the single mutant.

(Repnikova et al., 2010)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

SiaT^S23 is rescued by Scer\GAL4^elav-C155/SiaT^UAS.Tag:HA

(Repnikova et al., 2010)

Partially rescued by

SiaT^S23 is partially rescued by SiaT^t8

(Repnikova et al., 2010)

Not rescued by

SiaT^S23 is not rescued by Scer\GAL4^elav-C155/SiaT^{HK.UAS.Tag:HA}

(Repnikova et al., 2010)

Comments

Expression of ST6Gal^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav-C155 fully rescues the temperature sensitive paralytic phenotype and locomotor defects of ST6Gal^S23 adults.

Expression of ST6Gal^{HK.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav-C155 fails to rescue the temperature sensitive paralytic phenotype and locomotor defects of ST6Gal^S23 adults.

(Repnikova et al., 2010)

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

DSiaT^S23

(Scott et al., 2023, Islam et al., 2013, Sekine et al., 2013)

S23

(Repnikova et al., 2010)

ST6Gal^S23

SiaT^S23

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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