FlyBase Allele Report: Dmel\Spt-I[C129W.UAS]

General Information

Symbol

Dmel\Spt-I^C129W.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0317111

Feature type

allele

Associated gene

Dmel\Spt-I

Associated Insertion(s)

Carried in Construct

P{UAS-Spt-I.C129W}

Genomic Maps

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Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

in vitro construct - regulatory fusion

(Oswald et al., 2015)

in vitro construct - amino acid replacement

(Oswald et al., 2015)

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

point mutation

2R:13,169,289..13,169,289 [+]

Nucleotide change:

C13169289G

Amino acid change:

C129W | Spt-I-PB; C129W | Spt-I-PC; C129W | Spt-I-PA

Reported amino acid change:

C129W

Comment:

Analogous mutation in human SPTLC1 implicated in neuropathy, hereditary sensory and autonomic, type IA; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Oswald et al., 2015)

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

Carried in construct

P{UAS-Spt-I.C129W}

Cytology

Nature of the lesion

Statement

Reference

UASt regulatory sequences drive expression of a C129W mutant Spt-I cDNA derived from RE58623. Amino acid position 129 in Spt-I is analogous to position 133 in the homologous human protein.

(Oswald et al., 2015)

Allele components

Product class / Tool use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Spt-I

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 ( 1 )

Disease

Evidence

References

model of hereditary sensory neuropathy

CEA

(Oswald et al., 2015)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Phenotypic Data

Phenotypic Class

heat stress response defective, with Scer\GAL4^ppk.PG

(Oswald et al., 2015)

lethal | nutrition conditional, with Scer\GAL4^αTub84B.PL

(Oswald et al., 2015)

neuroanatomy defective, with Scer\GAL4^ppk.PG

(Oswald et al., 2015)

Phenotype Manifest In

sensory neuron, with Scer\GAL4^ppk.PG

(Oswald et al., 2015)

Detailed Description

Statement

Reference

When Spt-I^{C129W.Scer\UAS} is expressed with Scer\GAL4^ppk.PG, transgenic animals show defective nociception response. The expression of Spt-I^{C129W.Scer\UAS} significantly increases the nociceptive response temperature compared with wild-type. Pan-neuronal (Scer\GAL4^elav.PU) expression of Spt-I^{C129W.Scer\UAS} results in no change in synaptic bouton number at larval muscle 6/7, hemisegment A3 neuromuscular junction compared with wild-type. In the presence of Scer\GAL4^αTub84B.PL>Spt-I^{C129W.Scer\UAS}, enrichment of alanine in the larval diet is toxic and can be alleviated by increasing serine dietary abundance. Expression of Spt-I^{C129W.Scer\UAS} using Scer\GAL4^ppk.PG results in secretory and membrane dysfunction in sensory neurons. Expression of Spt-I^{C129W.Scer\UAS} using Scer\GAL4^ppk.PG produces subtle, yet statistically significant reduction in dendrite arborization compared with wild-type.

(Oswald et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Scer\GAL4^ppk.PG, Spt-I^C129W.UAS has heat stress response defective phenotype, non-enhanceable by Rab1^S25N.UAS.YFP, Scer\GAL4^ppk.PG

(Oswald et al., 2015)

Suppressed by

Statement

Reference

Scer\GAL4^ppk.PG, Spt-I^C129W.UAS has heat stress response defective phenotype, suppressible by Rab1^{Q70L.UASp.YFP}, Scer\GAL4^ppk.PG

(Oswald et al., 2015)

Other

Statement

Reference

Scer\GAL4^elav.PU, Spt-I^C129W.UAS, Spt-I^SH1626/Spt-I[+] has neuroanatomy defective | larval stage phenotype

(Oswald et al., 2015)

Scer\GAL4^elav.PU, Spt-I^C129W.UAS, lace[+]/lace^k05305 has neuroanatomy defective | larval stage phenotype

(Oswald et al., 2015)

Phenotype Manifest In

Other

Statement

Reference

Scer\GAL4^elav.PU, Spt-I^C129W.UAS, Spt-I^SH1626/Spt-I[+] has embryonic/larval neuromuscular junction phenotype

(Oswald et al., 2015)

Scer\GAL4^elav.PU, Spt-I^C129W.UAS, lace[+]/lace^k05305 has embryonic/larval neuromuscular junction phenotype

(Oswald et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Introduction of heterozygous Spt-I^SH1626 in the presence of Spt-I^{C129W.Scer\UAS} and the pan-neuronal driver Scer\GAL4^elav.PU induces a 50% reduction of bouton numbers compared with wild-type. Introduction of heterozygous lace^k05305 in the presence of Spt-I^{C129W.Scer\UAS} and the pan-neuronal driver Scer\GAL4^elav.PU induces a 50% reduction of bouton numbers compared with wild-type. Co-expression of Rab1^{Q70L.Scer\UAS.P\T.T:Avic\GFP-YFP} completely restores the nociceptive defect observed with Spt-I^{C129W.Scer\UAS} expression using Scer\GAL4^ppk.PG.

(Oswald et al., 2015)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Spt-I^{C129W.Scer\UAS}

Spt-I^C129W.UAS

Name Synonyms

Secondary FlyBase IDs

References (1)

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