FlyBase Allele Report: Dmel\Smn[X7]

General Information

Symbol

Dmel\Smn^X7

Species

D. melanogaster

Name

FlyBase ID

FBal0241134

Feature type

allele

Associated gene

Dmel\Smn

Associated Insertion(s)

Carried in Construct

Also Known As

Df(3L)Smn^X7

Key Links

Allele class

amorphic allele - molecular evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Chang et al., 2008)

Mutagen

P-element activity

(Chang et al., 2008)

Progenitor genotype

P{EPgy2}EY14384

(Chang et al., 2008)

Cytology

Description

Imprecise excision of the progenitor insertion, resulting in a deletion that removes almost the entire Smn transcription unit (the deletion extends from 93bp upstream of the transcription start site through all but the final 44bp of the 3'UTR) without affecting nearby loci.

(Chang et al., 2008)

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 spinal muscular atrophy

CEA

(Imlach et al., 2012)

CEC with Smn^HMC03832

(Chen et al., 2022)

model of juvenile spinal muscular atrophy

CEC with Smn^{V72G.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{T205I.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{G73R.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{I93F.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{G210C.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{Y208C.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{G210V.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{Y107C.Tag:FLAG}

(Garcia et al., 2024)

CEC with Smn^{F70S.Tag:FLAG}

(Garcia et al., 2024)

model of intermediate spinal muscular atrophy

CEA with Smn^{T205I.Tag:FLAG}, Smn^f01109

(Praveen et al., 2012)

model of childhood spinal muscular atrophy

CEA with Smn^HMC03832

(Di Giorgio et al., 2017)

CEA with Smn^{T205I.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{D20V.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{F70S.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{V72G.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{G73R.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{I93F.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{Y107C.Tag:FLAG}

(Spring et al., 2019)

CEA with Smn^{M194R.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{Y203C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{G206S.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019, Gray et al., 2018)

CEA with Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{G210C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021, Spring et al., 2019)

CEA with Smn^{S201A.G206S.Tag:FLAG}

(Gray et al., 2018)

CEA

(Raimer et al., 2020, Gray et al., 2018)

CEA with Smn^{L207Y,G210V.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Δ7S.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{S193I.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{S197P.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204R.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204H.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204R.v.Tag:FLAG}

(Gupta et al., 2021)

CEA with Smn^{Y204H.v.Tag:FLAG}

(Gupta et al., 2021)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

Comparison of RNA deep-sequencing expression profiles of Smn^X7/Smn^f01109 and wild-type larvae argue against a minor-intron-dependent etiology for spinal muscular atrophy.

(Garcia et al., 2013)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal developmental rate (with Smn^f01109)

(Praveen et al., 2012)

abnormal developmental rate (with Smn^f01109), with Smn^{T205I.Tag:FLAG}

(Praveen et al., 2012)

abnormal developmental rate (with Smn^f01109), with Smn^Tag:FLAG

(Praveen et al., 2012)

abnormal locomotor behavior (with Smn^f01109)

(Praveen et al., 2012)

abnormal locomotor behavior | larval stage

(Gray et al., 2018, Lotti et al., 2012)

abnormal locomotor behavior | third instar larval stage

(Imlach et al., 2012)

abnormal locomotor rhythm | larval stage

(Lotti et al., 2012)

abnormal neurophysiology | larval stage

(Lotti et al., 2012)

abnormal neurophysiology | third instar larval stage

(Imlach et al., 2012)

abnormal neurophysiology | third instar larval stage (with Smn^73Ao)

(Imlach et al., 2012)

abnormal neurophysiology | third instar larval stage (with Smn^E33)

(Imlach et al., 2012)

abnormal size | larval stage

(Lotti et al., 2012)

decreased body size | third instar larval stage

(Imlach et al., 2012)

fertile, with Smn^Tag:FLAG

(Praveen et al., 2014)

lethal

(Gupta et al., 2021)

lethal - all die before end of larval stage

(Gray et al., 2018)

lethal - all die before end of larval stage, with Smn^{G206S.Tag:FLAG}

(Praveen et al., 2014)

lethal - all die before end of larval stage, with Smn^{M194R.Tag:FLAG}

(Praveen et al., 2014)

lethal - all die before end of larval stage, with Smn^{Y203C.Tag:FLAG}

(Praveen et al., 2014)

lethal - all die before end of larval stage (with Smn^73Ao)

(Chang et al., 2008)

lethal - all die before end of larval stage (with Smn^f01109)

(Praveen et al., 2012)

lethal - all die before end of larval stage (with Smn^f05960)

(Chang et al., 2008)

lethal - all die before end of larval stage | recessive

(Chang et al., 2008)

lethal - all die before end of P-stage, with Smn^{V72G.Tag:FLAG}

(Praveen et al., 2014)

lethal - all die before end of pupal stage, with Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021)

lethal - all die before end of pupal stage, with Smn^{G210V.Tag:FLAG}, Smn^{V72G.Tag:FLAG}

(Gupta et al., 2021)

lethal - all die before end of pupal stage, with Smn^{T205I.Tag:FLAG}

(Gupta et al., 2021)

lethal - all die before end of pupal stage, with Smn^{V72G.Tag:FLAG}, Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

lethal - all die before end of pupal stage, with Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

lethal - all die during P-stage, with Smn^{L207Y,G210V.Tag:FLAG}

(Gupta et al., 2021)

lethal - all die during P-stage, with Smn^{Y204H.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

lethal - all die during pupal stage, with Scer\GAL4^Tub.PU, Smn^{RNAi.FL.UAS.WIZ}

(Sen et al., 2013)

majority die during P-stage, with Smn^{G210C.Tag:FLAG}

(Gupta et al., 2021)

majority die during P-stage, with Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021, Praveen et al., 2014)

majority die during P-stage, with Smn^{Y107C.Tag:FLAG}

(Praveen et al., 2014)

majority die during P-stage, with Smn^{Y208A.Tag:FLAG}

(Gupta et al., 2021)

majority die during P-stage, with Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

partially lethal, with Smn^{F70S.Tag:FLAG}, Smn^Tag:FLAG

(Gupta et al., 2021)

partially lethal, with Smn^{F70S.Tag:FLAG}, Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

partially lethal - majority die, with Smn^{G210C.Tag:FLAG}

(Gupta et al., 2021, Praveen et al., 2014)

partially lethal - majority die, with Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

partially lethal - majority die, with Smn^{G210V.Tag:FLAG}, Smn^Tag:FLAG

(Gupta et al., 2021)

partially lethal - majority die, with Smn^{G210V.Tag:FLAG}, Smn^{V72G.Tag:FLAG}

(Gupta et al., 2021)

partially lethal - majority die, with Smn^{T205I.Tag:FLAG}

(Praveen et al., 2014)

partially lethal - majority die, with Smn^Tag:FLAG, Smn^{V72G.Tag:FLAG}

(Gupta et al., 2021)

partially lethal - majority die, with Smn^Tag:FLAG, Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

partially lethal - majority die, with Smn^{Y107C.Tag:FLAG}

(Praveen et al., 2014)

partially lethal - majority die (with Smn^f01109), with Smn^{T205I.Tag:FLAG}

(Praveen et al., 2012)

partially lethal - majority live, with Smn^{F70S.Tag:FLAG}

(Praveen et al., 2014)

partially lethal - majority live, with Smn^{F70S.Tag:FLAG}, Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021)

partially lethal - majority live, with Smn^{G73R.Tag:FLAG}

(Praveen et al., 2014)

partially lethal - majority live, with Smn^{I93F.Tag:FLAG}

(Praveen et al., 2014)

partially lethal - majority live, with Smn^Tag:FLAG

(Praveen et al., 2014)

partially lethal - majority live (with Smn^f01109)

(Chang et al., 2008)

some die during larval stage, with Smn^{Y208A.Tag:FLAG}

(Gupta et al., 2021)

some die during larval stage (with Smn^73Ao)

(Chang et al., 2008)

some die during larval stage (with Smn^f05960)

(Chang et al., 2008)

some die during larval stage | recessive

(Chang et al., 2008)

some die during P-stage, with Smn^{G210C.Tag:FLAG}

(Praveen et al., 2014)

some die during P-stage, with Smn^{T205I.Tag:FLAG}

(Praveen et al., 2014)

some die during pupal stage (with Smn^f01109), with Smn^{T205I.Tag:FLAG}

(Praveen et al., 2012)

some die during third instar larval stage (with Smn^f01109)

(Praveen et al., 2012)

Phenotype Manifest In

Detailed Description

Statement

Reference

Smn^X7 homozygous larvae show severe decrease in locomotor ability, as compared to controls.

(Gray et al., 2018)

Expression of Smn^{dsRNA.FL.Scer\UAS.WIZ} under the control of Scer\GAL4^tub.PU in a Smn^X7 background results in a fully penetrant pupal lethality, with none of the pupae reaching a pigmented developmental stage.

(Sen et al., 2013)

Smn^X7/Smn^X7 third instar larvae are smaller, have significantly decreased muscle surface area, show significantly decreased locomotion velocity, have disrupted rhythmic motor activity (significantly increased spontaneous inter-spike intervals), and at the neuromuscular junction show significantly increased evoked excitatory postsynaptic potential amplitude, increased miniature excitatory postsynaptic potential frequency and increased quantal content compared to wild type.

Smn^X7/Smn^73Ao or Smn^X7/Smn^E33 third instar larvae have significantly increased evoked excitatory postsynaptic potential amplitude at the neuromuscular junction.

(Imlach et al., 2012)

Smn^X7 mutant larvae exhibit an aberrant increase in evoked excitatory postsynaptic potential amplitudes at the neuromuscular junction to ~125% of controls. Muscle 6 in hemisegment A3 of Smn^X7 mutant larvae is reduced in size, locomotion is decreased and rhythmic motor activity is altered.

(Lotti et al., 2012)

20-30% of Smn^f01109/Smn^X7 mutant larvae are long lived and can survive for many days without undergoing metamorphosis or exhibiting the wandering behaviour typical of the late third instar.

(Praveen et al., 2012)

Smn^X7/+ third instar larvae have a similar number of boutons per muscle at the neuromuscular junction, compared to controls.

(Sen et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Smn^X7 has abnormal neurophysiology | larval stage phenotype, suppressible by Scer\GAL4^nSyb.PS

(Lotti et al., 2012)

Smn^X7 has abnormal neurophysiology | larval stage phenotype, suppressible by Scer\GAL4^ChAT.7.4

(Lotti et al., 2012)

Smn^X7 has abnormal size | larval stage phenotype, suppressible by Scer\GAL4^nSyb.PS

(Lotti et al., 2012)

Smn^X7 has abnormal size | larval stage phenotype, suppressible by Scer\GAL4^ChAT.7.4

(Lotti et al., 2012)

NOT suppressed by

Statement

Reference

Smn^X7 has abnormal neurophysiology | larval stage phenotype, non-suppressible by Scer\GAL4^VGlut1-OK371

(Lotti et al., 2012)

Smn^X7 has abnormal size | larval stage phenotype, non-suppressible by Scer\GAL4^VGlut1-OK371

(Lotti et al., 2012)

Smn^X7 has abnormal locomotor behavior | larval stage phenotype, non-suppressible by Scer\GAL4^nSyb.PS

(Lotti et al., 2012)

Smn^X7 has abnormal locomotor behavior | larval stage phenotype, non-suppressible by Scer\GAL4^ChAT.7.4

(Lotti et al., 2012)

Smn^X7 has abnormal locomotor rhythm | larval stage phenotype, non-suppressible by Scer\GAL4^nSyb.PS

(Lotti et al., 2012)

Smn^X7 has abnormal locomotor rhythm | larval stage phenotype, non-suppressible by Scer\GAL4^ChAT.7.4

(Lotti et al., 2012)

Other

Statement

Reference

Smn[+]/Smn^X7, htl^AB42 has abnormal neuroanatomy | third instar larval stage phenotype

(Sen et al., 2011)

Phenotype Manifest In

Suppressed by

Statement

Reference

Smn^X7 has larval somatic muscle cell | larval stage phenotype, suppressible by Scer\GAL4^nSyb.PS

(Lotti et al., 2012)

Smn^X7 has larval somatic muscle cell | larval stage phenotype, suppressible by Scer\GAL4^ChAT.7.4

(Lotti et al., 2012)

Smn^X7 has embryonic/larval neuromuscular junction | larval stage phenotype, suppressible by Scer\GAL4^nSyb.PS

(Lotti et al., 2012)

Smn^X7 has embryonic/larval neuromuscular junction | larval stage phenotype, suppressible by Scer\GAL4^ChAT.7.4

(Lotti et al., 2012)

NOT suppressed by

Statement

Reference

Smn^X7 has embryonic/larval neuromuscular junction | larval stage phenotype, non-suppressible by Scer\GAL4^VGlut1-OK371

(Lotti et al., 2012)

Smn^X7 has larval somatic muscle cell | larval stage phenotype, non-suppressible by Scer\GAL4^VGlut1-OK371

(Lotti et al., 2012)

Other

Statement

Reference

Smn[+]/Smn^X7, htl^AB42 has NMJ bouton | third instar larval stage phenotype

(Sen et al., 2011)

Smn[+]/Smn^X7, htl^AB42 has embryonic/larval neuromuscular junction | third instar larval stage phenotype

(Sen et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Presence of Smn^X7 or Df(3L)ED4782 does not result in significant progressive flight or survival phenotypes in flies with expression of Gem3^ΔN.Scer\UAS driven by Scer\GAL4^Mef2.PR.

(Borg et al., 2015)

Expression of stas^Scer\UAS.cLa either pan-neuronally under the control of Scer\GAL4^n-syb.PS or in cholinergic neurons using Scer\GAL4^Cha.7.4 rescues the increase in neuromuscular junction evoked excitatory postsynaptic potential (eEPSP) amplitudes seen in Smn^X7 mutant larvae. The reduction in muscle size is rescued to 80% of that in control larvae. Expression of stas^Scer\UAS.cLa in the glutamatergic motor neurons using the Scer\GAL4^VGlut-OK371 driver fails to rescue either the eEPSP or muscle size phenotypes. The locomotor activity defects seen in Smn^X7 mutants are not rescued by any of the three drivers.

(Lotti et al., 2012)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Smn^f05960

(Chang et al., 2008)

Smn^73Ao

(Chang et al., 2008)

Rescued by

Smn^X7 is rescued by Smn^v.Tag:FLAG

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^{S201A.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^{ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^{EAL.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^{L207Y,G210C.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^{L207Y.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^{MGLR.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^{Y204H.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^Tag:FLAG

(Gupta et al., 2021)

Smn^X7 is rescued by Smn^v.Tag:FLAG

(Gray et al., 2018)

Smn^X7 is rescued by Smn^{S201A.v.Tag:FLAG}

(Gray et al., 2018)

Smn^X7 is rescued by Smn^{Y203C.Tag:FLAG}/Smn^Tag:FLAG/Scer\GAL4^Act.PU/Smn^UAS.Tag:FLAG

(Praveen et al., 2014)

Smn^X7 is rescued by Scer\GAL4^da.PU/Smn^UAS.Tag:FLAG

(Imlach et al., 2012)

Smn^X7 is rescued by Smn^UAS.Tag:FLAG/Scer\GAL4^nSyb.PS

(Imlach et al., 2012)

Smn^X7 is rescued by Smn^UAS.Tag:FLAG/Scer\GAL4^ChAT.7.4

(Imlach et al., 2012)

Partially rescued by

Smn^X7 is partially rescued by Smn^{F70S.Tag:FLAG}/Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{F70S.Tag:FLAG}/Smn^Tag:FLAG

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{G210C.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{L207Y,G210V.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^Tag:FLAG/Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{V72G.Tag:FLAG}/Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{Y204H.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{Y208C.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^Tag:FLAG/Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^Tag:FLAG/Smn^{V72G.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{T205I.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{F70S.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{V72G.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{F70S.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{V72G.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is partially rescued by Smn^{S201A.G206S.Tag:FLAG}

(Gray et al., 2018)

Smn^X7 is partially rescued by Smn^Tag:FLAG

(Gray et al., 2018)

Smn^X7 is partially rescued by Smn^Tag:FLAG/Smn^{M194R.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y203C.Tag:FLAG}/Smn^Tag:FLAG

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^Tag:FLAG/Smn^{G206S.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{D20V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{G73R.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{I93F.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y107C.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y203C.Tag:FLAG}/Smn^{D20V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y203C.Tag:FLAG}/Smn^{G73R.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y203C.Tag:FLAG}/Smn^{I93F.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y203C.Tag:FLAG}/Smn^{T205I.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y203C.Tag:FLAG}/Smn^{Y107C.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y203C.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y203C.Tag:FLAG}/Smn^{V72G.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{I93F.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{D20V.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{G210V.Tag:FLAG}/Smn^{G210C.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{Y107C.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{M194R.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^Tag:FLAG

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^Tag:FLAG/Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^Tag:FLAG/Smn^{V72G.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{T205I.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{F70S.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{V72G.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{F70S.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{V72G.Tag:FLAG}/Smn^{G210V.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^{G210C.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is partially rescued by Smn^UAS.Tag:FLAG/Scer\GAL4^clh201

(Imlach et al., 2012)

Smn^X7 is partially rescued by Scer\GAL4^NP2225/Smn^UAS.Tag:FLAG

(Imlach et al., 2012)

Smn^X7 is partially rescued by Scer\GAL4^{elav.Switch.PO}/Smn^UAS.Tag:FLAG

(Imlach et al., 2012)

Smn^X7/Smn^f01109 is partially rescued by Smn^Tag:FLAG

(Praveen et al., 2012)

Smn^X7/Smn^f01109 is partially rescued by Smn^{T205I.Tag:FLAG}

(Praveen et al., 2012)

Not rescued by

Smn^X7 is not rescued by Smn^{Δ7S.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is not rescued by Smn^{S193I.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is not rescued by Smn^{S197P.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is not rescued by Smn^{Y203C.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is not rescued by Smn^{Y204R.ΔMGLR.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is not rescued by Smn^{Y204R.v.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is not rescued by Smn^{M194R.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is not rescued by Smn^{G206S.Tag:FLAG}

(Gupta et al., 2021)

Smn^X7 is not rescued by Smn^{G206S.Tag:FLAG}

(Gray et al., 2018)

Smn^X7 is not rescued by Smn^{Y203C.Tag:FLAG}/Smn^{M194R.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is not rescued by Smn^{Y203C.Tag:FLAG}/Smn^{G206S.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is not rescued by Smn^{M194R.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is not rescued by Smn^{G206S.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is not rescued by Smn^{Y203C.Tag:FLAG}

(Praveen et al., 2014)

Smn^X7 is not rescued by Scer\GAL4^G14/Smn^UAS.Tag:FLAG

(Imlach et al., 2012)

Smn^X7 is not rescued by Smn^UAS.Tag:FLAG/Scer\GAL4^VGlut1-OK371

(Imlach et al., 2012)

Smn^X7 is not rescued by Smn^UAS.Tag:FLAG/Scer\GAL4^RapGAP1-OK6

(Imlach et al., 2012)

Smn^X7 is not rescued by Scer\GAL4^Gad1.3.098/Smn^UAS.Tag:FLAG

(Imlach et al., 2012)

Smn^X7 is not rescued by Smn^UAS.Tag:FLAG/Scer\GAL4^1003.3

(Imlach et al., 2012)

Smn^X7 is not rescued by Smn^UAS.Tag:FLAG/Scer\GAL4^ppk.1.9

(Imlach et al., 2012)

Smn^X7/Smn^f01109 is not rescued by Smn^{Act5C.Tag:FLAG}

(Praveen et al., 2012)

Comments

Expression of one copy of Smn^{M194R.T:Zzzz\FLAG} fails to rescue the larval lethality seen in homozygous Smn^X7 mutants. The larvae are similar in size to Smn^X7 mutants.

Expression of one copy of Smn^{Y203C.T:Zzzz\FLAG} fails to rescue the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{G206S.T:Zzzz\FLAG} fails to rescue the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{D20V.T:Zzzz\FLAG} partially rescues the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{F70S.T:Zzzz\FLAG} partially rescues the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{G73R.T:Zzzz\FLAG} partially rescues the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{I93F.T:Zzzz\FLAG} partially rescues the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{V72G.T:Zzzz\FLAG} overcomes the larval lethality seen in homozygous Smn^X7 mutants but the resulting flies are pupal lethal.

Expression of one copy of Smn^{Y107C.T:Zzzz\FLAG} partially rescues the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{T205I.T:Zzzz\FLAG} partially rescues the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{G210C.T:Zzzz\FLAG} partially rescues the larval lethality seen in homozygous Smn^X7 mutants.

Expression of one copy of Smn^{G210V.T:Zzzz\FLAG} partially rescues the larval lethality seen in homozygous Smn^X7 mutants.

(Praveen et al., 2014)

Decreased muscle surface area, locomotor defects, increased inter-spike intervals and increased evoked excitatory postsynaptic potential (eEPSP) amplitude in Smn^X7/Smn^X7 third instar larvae are rescued by ubiquitous (Scer\GAL4^da.PU), pan-neuronal (Scer\GAL4^nSyb.PS) or cholinergic (Scer\GAL4^ChAT.7.4) expression of Smn^{Scer\UAS.T:Zzzz\FLAG}; these phenotypes are not rescued when expression is driven by larval muscle-specific Scer\GAL4^G14, glutamatergic Scer\GAL4^VGlut-OK371, motor-neuron specific Scer\GAL4^RapGAP1-OK6, GABAergic (Scer\GAL4^Gad1.3.098), Scer\GAL4^1003.3 or Scer\GAL4^ppk.1.9. Expression of Smn^{Scer\UAS.T:Zzzz\FLAG} with Scer\GAL4^clh201 or Scer\GAL4^NP2225 rescues the increased inter-spike intervals and increased eEPSP amplitude, partially rescues the decreased muscle surface area, but fails to rescue the locomotion defect in Smn^X7/Smn^X7 third instar larvae.

Smn^{Scer\UAS.T:Zzzz\FLAG} driven by Scer\GAL4^{elav.Switch.PO} in the presence of RU486 rescues Smn^X7/Smn^X7 muscle size, locomotion (partially), inter-spike intervals and eEPSP defects if Smn^{Scer\UAS.T:Zzzz\FLAG} expression is induced immediately after hatching (if induced 48 or 96 hours after hatching rescue is partial apart from full rescue of eEPSP).

(Imlach et al., 2012)

Expression of Smn^T:Zzzz\FLAG in a Smn^f01109/Smn^X7 mutant background results in >70% rescue of lethality. The resulting adults are fertile with no apparent defects in flight or motility. Pupation and eclosion occurs a day later than in wild type controls. Expression of Smn^T:Zzzz\FLAG also rescues the motility and burrowing defects seen in Smn^f01109/Smn^X7 mutant larvae.

Expression of Smn^{Act5C.T:Zzzz\FLAG} fails to rescue the larval lethality seen in Smn^f01109/Smn^X7 mutants.

Expression of Smn^{T205I.T:Zzzz\FLAG} fully rescues the larval lethality seen in Smn^f01109/Smn^X7 mutants. However lethality in these mutants occurs at the pupal stage, with only 25% of mutants eclosing as adults. Pupation and eclosion occurs a day later than in wild type controls. Expression of Smn^T:Zzzz\FLAG also largely rescues the motility defects seen in Smn^f01109/Smn^X7 mutant larvae, whereas the burrowing defects are fully rescued.

(Praveen et al., 2012)

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Wild-type

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External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Df (3 L) SmnX7

(Mirra et al., 2017)

Df(3L)Smn^X7

(Amaral et al., 2014, Chang et al., 2008)

Smn^X7

(Garcia et al., 2024, Chen et al., 2022, Gupta et al., 2021, Maccallini et al., 2020, Raimer et al., 2020, Spring et al., 2019, Gray et al., 2018, Di Giorgio et al., 2017, Garcia et al., 2016, Borg et al., 2015, Praveen et al., 2014, Borg and Cauchi, 2013, Garcia et al., 2013, Sen et al., 2013, Praveen et al., 2012, Sen et al., 2011)

Smn^x7

(Grice and Liu, 2022, Grice et al., 2018)

smn^X7

(Imlach et al., 2012, Lotti et al., 2012)

ΔSmn

(Di Giorgio et al., 2017)

Name Synonyms

Secondary FlyBase IDs

References (23)

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