FlyBase Allele Report: Dmel\Smn[RNAi.N.UAS.WIZ]

General Information

Symbol

Dmel\Smn^{RNAi.N.UAS.WIZ}

Species

D. melanogaster

Name

FlyBase ID

FBal0241136

Feature type

allele

Associated gene

Dmel\Smn

Associated Insertion(s)

Carried in Construct

P{UAS-Smn.RNAi.N}

Key Links

Transgenic product class

RNAi_reagent

(Chang et al., 2008)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

RNAi_reagent

(Chang et al., 2008)

Mutagen

in vitro construct

(Chang et al., 2008)

Progenitor genotype

Carried in construct

P{UAS-Smn.RNAi.N}

Cytology

Description

UAS regulatory sequences drive expression of an inverted repeat of sequences corresponding to the amino-terminal portion of Smn (including the Tudor domain).

(Chang et al., 2008)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Smn

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 ( 1 )

Disease

Evidence

References

model of childhood spinal muscular atrophy

CEA

(Sen et al., 2011, Chang et al., 2008)

model of spinal muscular atrophy

CEA

(Timmerman and Sanyal, 2012)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of childhood spinal muscular atrophy

is ameliorated by htl^UAS.cMa

(Sen et al., 2011)

is exacerbated by Gem3^ΔN.UAS

(Borg et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage, with Scer\GAL4^elav-C155

(Timmerman and Sanyal, 2012)

abnormal locomotor behavior | adult stage, with Scer\GAL4^how-24B

(Timmerman and Sanyal, 2012)

abnormal locomotor behavior | adult stage, with Scer\GAL4^VGlut-OK371

(Timmerman and Sanyal, 2012)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^Act.PU

(Chang et al., 2008)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^elav.PLu

(Chang et al., 2008)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^how-24B

(Sen et al., 2011, Chang et al., 2008)

abnormal neurophysiology | third instar larval stage, with Scer\GAL4^how-24B

(Timmerman and Sanyal, 2012)

lethal, with Scer\GAL4^elav.PLu

(Chang et al., 2008)

lethal, with Scer\GAL4^how-24B

(Chang et al., 2008)

lethal - all die before end of pupal stage, with Scer\GAL4^Act.PU

(Chang et al., 2008)

majority die during P-stage, with Scer\GAL4^how-24B

(Sen et al., 2011)

partially lethal, with Scer\GAL4^how-24B

(Sen et al., 2011)

some die during pupal stage, with Scer\GAL4^Act.PU

(Chang et al., 2008)

visible, with Scer\GAL4^en-e16E

(Chang et al., 2008)

Phenotype Manifest In

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^how-24B

(Timmerman and Sanyal, 2012, Sen et al., 2011)

NMJ bouton, with Scer\GAL4^Act.PU

(Chang et al., 2008)

NMJ bouton, with Scer\GAL4^elav.PLu

(Chang et al., 2008)

NMJ bouton, with Scer\GAL4^how-24B

(Chang et al., 2008)

NMJ bouton | third instar larval stage, with Scer\GAL4^how-24B

(Sen et al., 2011)

posterior crossvein, with Scer\GAL4^en-e16E

(Chang et al., 2008)

wing vein L4, with Scer\GAL4^en-e16E

(Chang et al., 2008)

wing vein L5, with Scer\GAL4^en-e16E

(Chang et al., 2008)

Detailed Description

Statement

Reference

Expression of Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^Mef2.PR does not significantly affect flight ability in flies.

(Borg et al., 2015)

Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^elav-C155 disrupts locomotor behavior (significantly reduced speed, distance covered, and overall activity, and increased pause number but not pause length in Buridan's assay) in adult flies compared to wild type; when driven by Scer\GAL4^how-24B, the only significant difference compared to wild type is an increase in pause number. Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^VGlut-OK371 (but not Scer\GAL4^ChAT.7.4) disrupts locomotor behavior (significantly reduced distance covered and overall activity, and increased pause number but not pause length).

Baseline synaptic transmission measured at the neuromuscular junction (muscle 6/7 in abdominal segment 2) is not significantly altered in third instar larvae with Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^elav-C155 : no changes in excitatory junction potential (EJP) amplitude, mini evoked junction potential (mEJP) amplitude or the quantal content of release were detected; when challenged with high-frequency stimulation (10Hz), performance was not significantly different than controls. However, when Smn^{dsRNA.N.Scer\UAS.WIZ} is driven in muscles by Scer\GAL4^how-24B there are significant decreases in EJP and mEJP amplitude. No significant change in glutamate receptor staining intensity or distribution is detected in larvae with Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^how-24B or Scer\GAL4^elav-C155.

An activity-dependent block of post-synaptic glutamate receptors with wasp venom (Philanthotoxin) triggers a pre-synaptic homeostatic response (results in a significant increase in quantal content) at wild type third instar larval neuromuscular junctions; a similar response is seen in larvae with Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^how-24B or Scer\GAL4^elav-C155.

(Timmerman and Sanyal, 2012)

Expression of Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^how-24B significantly reduces the number of boutons per muscle at the neuromuscular junction of third instar larvae, compared to controls.

(Sen et al., 2011)

Expression of Smn^{dsRNA.N.Scer\UAS.WIZ} under the control of Scer\GAL4^Act results in early pupal lethality.

Expression of Smn^{dsRNA.N.Scer\UAS.WIZ} under the control of one of Scer\GAL4^Act, Scer\GAL4^elav.PLu or Scer\GAL4^how-24B results in a reduction in bouton number per muscle area at the neuromuscular junction of third instar larvae compared to wild type.

Expression of Smn^{dsRNA.N.Scer\UAS.WIZ} under the control of Scer\GAL4^en-e16E results in defects in the posterior crossvein and in the distal portions of wing veins L4 and L5.

(Chang et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Scer\GAL4^how-24B, Smn^{RNAi.N.UAS.WIZ} has majority die during P-stage phenotype, suppressible | partially by sty[+]/sty²²⁶

(Sen et al., 2011)

Scer\GAL4^how-24B, Smn^{RNAi.N.UAS.WIZ} has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by htl^UAS.cMa/Scer\GAL4^how-24B

(Sen et al., 2011)

Other

Statement

Reference

Gem3^ΔN.UAS, Scer\GAL4^Mef2.PR, Smn^{RNAi.N.UAS.WIZ} has lethal phenotype

(Borg et al., 2015)

GluRIIA^SP16/Df(2L)cl-h4, Scer\GAL4^elav-C155, Smn^{RNAi.N.UAS.WIZ} has abnormal neuroanatomy | third instar larval stage phenotype

(Timmerman and Sanyal, 2012)

Phenotype Manifest In

Suppressed by

Statement

Reference

Scer\GAL4^how-24B, Smn^{RNAi.N.UAS.WIZ} has NMJ bouton | third instar larval stage phenotype, suppressible by htl^UAS.cMa/Scer\GAL4^how-24B

(Sen et al., 2011)

Scer\GAL4^how-24B, Smn^{RNAi.N.UAS.WIZ} has embryonic/larval neuromuscular junction | third instar larval stage phenotype, suppressible by htl^UAS.cMa/Scer\GAL4^how-24B

(Sen et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Co-expression of Gem3^ΔN.Scer\UAS and Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^Mef2.PR results in lethality.

(Borg et al., 2015)

A longer term form of homeostatic compensation triggered at the GluRIIA^SP16/Df(2L)cl-h4 larval neuromuscular junction (leads to presynaptic increases in quantal content) is defective (no increase in quantal content) in larvae with Smn^{dsRNA.N.Scer\UAS.WIZ} driven by Scer\GAL4^elav-C155 (but not Scer\GAL4^how-24B).

(Timmerman and Sanyal, 2012)

Presence of sty²²⁶/+ partially suppresses pupal lethality in Scer\GAL4^how-24B>Smn^{dsRNA.N.Scer\UAS.WIZ} flies.

Co-expression of htl^Scer\UAS.cMa rescues the phenotype of reduced bouton number per muscle at the neuromuscular junction of Scer\GAL4^how-24B>Smn^{dsRNA.N.Scer\UAS.WIZ} third instar larvae.

(Sen et al., 2011)

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 (3)

Reported As

Symbol Synonym

Smn^{RNAi.N.UAS.WIZ}

Smn^{dsRNA.N.Scer\UAS.WIZ}

Smn^{dsRNA.N.UAS.WIZ}

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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