FlyBase Allele Report: Dmel\Smn[73Ao]

General Information

Symbol

Dmel\Smn^73Ao

Species

D. melanogaster

Name

FlyBase ID

FBal0092881

Feature type

allele

Associated gene

Dmel\Smn

Associated Insertion(s)

Carried in Construct

Also Known As

Smn^A

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

amorphic allele - molecular evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Rajendra et al., 2007)

amorphic allele - molecular evidence

(Sen et al., 2011)

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: G202S.

(Chan et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:16,580,579..16,580,579 [-]

Nucleotide change:

G16580579A

Amino acid change:

G202S | Smn-PA; G202S | Smn-PB

Reported amino acid change:

G202S

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Chan et al., 2003)

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

(Gupta et al., 2021, Shpargel et al., 2009, Chan et al., 2003)

CEA with Smn^f01109

(Chang et al., 2008)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of childhood spinal muscular atrophy

is ameliorated by Atf6^c05057

(Chang et al., 2008)

is ameliorated by CG10561^f06260

(Chang et al., 2008)

is ameliorated by CG13775^f05549

(Chang et al., 2008)

is exacerbated by CG33172^f04448

(Chang et al., 2008)

is exacerbated by ASPP^d05779

(Chang et al., 2008)

is exacerbated by Eip75B^d09801

(Chang et al., 2008)

is exacerbated by Mad¹²

(Chang et al., 2008)

is ameliorated by Moe^e02369

(Chang et al., 2008)

is exacerbated by SK^d03336

(Chang et al., 2008)

is exacerbated by btl^f02864

(Chang et al., 2008)

is ameliorated by ctp^f02345

(Chang et al., 2008)

is ameliorated by mlt^e00818

(Chang et al., 2008)

is exacerbated by net^f04249

(Chang et al., 2008)

is exacerbated by spri^d05295

(Chang et al., 2008)

is exacerbated by wit^UAS.cMa

(Chang et al., 2008)

is exacerbated by wit^d02492

(Chang et al., 2008)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | larval stage

(Shpargel et al., 2009)

abnormal neuroanatomy | third instar larval stage (with Smn^f01109)

(Dimitriadi et al., 2010, Chang et al., 2008)

abnormal neurophysiology

(Chan et al., 2003)

abnormal neurophysiology | larval stage

(Lotti et al., 2012)

abnormal neurophysiology | third instar larval stage (with Smn^X7)

(Imlach et al., 2012)

decreased body size | larval stage

(Shpargel et al., 2009)

female sterile | germline clone | recessive

(Chan et al., 2003)

lethal | embryonic stage | germline clone | non-rescuable maternal effect | recessive

(Chan et al., 2003)

lethal | larval stage | recessive

(Chan et al., 2003)

lethal | recessive

(Bedian, 1998.10.2)

lethal - all die before end of larval stage

(Gupta et al., 2021)

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

(Chang et al., 2008)

lethal - all die before end of larval stage (with Smn^X7)

(Chang et al., 2008)

lethal - all die before end of larval stage | recessive

(Shpargel et al., 2009)

lethal - all die before end of second instar larval stage | recessive

(Chang et al., 2008)

partially lethal - majority live (with Smn^f01109)

(Chang et al., 2008)

some die during larval stage (with Smn^f05960)

(Chang et al., 2008)

some die during larval stage (with Smn^X7)

(Chang et al., 2008)

some die during larval stage | recessive

(Shpargel et al., 2009)

some die during second instar larval stage | recessive

(Chang et al., 2008)

uncoordinated | larval stage | recessive

(Chan et al., 2003)

Phenotype Manifest In

embryonic/larval neuromuscular junction | larval stage

(Lotti et al., 2012)

embryonic/larval neuromuscular junction | third instar larval stage (with Smn^X7)

(Imlach et al., 2012)

NMJ bouton

(Chan et al., 2003)

NMJ bouton (with Smn^f01109)

(Chang et al., 2008)

NMJ bouton | third instar larval stage (with Smn^f01109)

(Dimitriadi et al., 2010)

Detailed Description

Statement

Reference

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

(Imlach et al., 2012)

Smn^73Ao mutant larvae exhibit an aberrant increase in evoked excitatory postsynaptic potential amplitudes at the neuromuscular junction to ~125% of controls.

(Lotti et al., 2012)

Smn^73Ao/Smn^f01109 third instar larvae show significant decreases in bouton number (per muscle area) compared to either heterozygote (heterozygotes are similar to controls).

(Dimitriadi et al., 2010)

Homozygous larvae are thinner and shorter than control larvae at 4 days after egg laying.

Homozygous second-third instar larvae show impaired motor function, showing a smaller distance travelled in the 20 seconds after movement was stimulated with a needle than control larvae.

(Shpargel et al., 2009)

Most homozygotes die between the second and third larval stages, with less than 10% reaching the third instar larval stage.

Smn^73Ao/Smn^f01109 third instar larvae show a reduction in bouton number per muscle area at the neuromuscular junction compared to wild type.

(Chang et al., 2008)

Homozygous larvae show a progressive loss of mobility and increased uncoordinated movement before death occurs at the late larval stage. Homozygous larvae show a 53 +/- 5% decrease in contraction rate compared to control third instar larvae. Females carrying homozygous germline clones lay only a few eggs, which die at very early stages (between 0 and 4 hours after egg laying at 25^oC). Excitatory postsynaptic currents are reduced in amplitude in mutant third instar larvae compared to control animals. Mutant larvae show defects at the neuromuscular junction; an increased number of enlarged boutons is seen.

(Chan et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Smn^73Ao has lethal | recessive phenotype, suppressible by P{XP}Mipp2^d00184/Scer\GAL4^Tub.PU/+

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by CG10561^f06260/CG10561[+]/Scer\GAL4^Tub.PU

(Chang et al., 2008)

Smn^73Ao has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Dad^271-68/Dad^271-68

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by Moe^e02369/Scer\GAL4^Tub.PU/Moe[+]

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by Scer\GAL4^Tub.PU/P{XP}d03478/+

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by ctp^f02345/ctp[+]/Scer\GAL4^Tub.PU

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by Scer\GAL4^Tub.PU/P{XP}d10763/+

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by Atf6[+]/Atf6^c05057/Scer\GAL4^Tub.PU

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by P{XP}Ppdh^d02302/Scer\GAL4^Tub.PU/+

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by Scer\GAL4^Tub.PU/CG12214[+]/mlt^e00818

(Chang et al., 2008)

Smn^73Ao has lethal | recessive phenotype, suppressible by CG13775[+]/Scer\GAL4^Tub.PU/CG13775^f05549

(Chang et al., 2008)

Other

Statement

Reference

Cbp20[+]/Cbp20^e02787, Smn^73Ao has abnormal neuroanatomy | third instar larval stage phenotype

(Dimitriadi et al., 2010)

FMRFa[+]/FMRFa^KG01300, Smn^73Ao has abnormal neuroanatomy | third instar larval stage phenotype

(Dimitriadi et al., 2010)

Scer\GAL4^elav.PLu, Smn^73Ao, wit^UAS.cMa has abnormal neuroanatomy | third instar larval stage phenotype

(Chang et al., 2008)

PBac{WH}f05849/+, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

+/P{XP}d00698, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

ASPP[+]/ASPP^d05779, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

P{XP}d00985/+, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

Scer\GAL4^Tub.PU, Smn^73Ao, net[+]/net^f04249 has lethal | dominant phenotype

(Chang et al., 2008)

Scer\GAL4^Tub.PU, Smn^73Ao, wit^d02492/wit[+] has lethal | dominant phenotype

(Chang et al., 2008)

P{XP}d09170/+, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

Eip75B[+]/Eip75B^d09801, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

PBac{WH}f02477/+, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

PBac{WH}f06201/+, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

Scer\GAL4^Tub.PU, Smn^73Ao, btl^f02864/btl[+] has lethal | dominant phenotype

(Chang et al., 2008)

Mad¹²/Mad[+], Smn^73Ao has abnormal neuroanatomy | third instar larval stage phenotype

(Chang et al., 2008)

+/P{XP}d00712, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

SK[+]/SK^d03336, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

+/P{XP}boi^d04197, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

Scer\GAL4^Tub.PU, Smn^73Ao, spri^d05295/spri[+] has lethal | dominant phenotype

(Chang et al., 2008)

PBac{WH}f01369/+, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

CG33172[+]/CG33172^f04448, Scer\GAL4^Tub.PU, Smn^73Ao has lethal | dominant phenotype

(Chang et al., 2008)

Phenotype Manifest In

Suppressed by

Statement

Reference

Smn^73Ao has NMJ bouton phenotype, suppressible by Dad^271-68/Dad^271-68

(Chang et al., 2008)

Other

Statement

Reference

Cbp20[+]/Cbp20^e02787, Smn^73Ao has NMJ bouton | third instar larval stage phenotype

(Dimitriadi et al., 2010)

FMRFa[+]/FMRFa^KG01300, Smn^73Ao has NMJ bouton | third instar larval stage phenotype

(Dimitriadi et al., 2010)

Scer\GAL4^elav.PLu, Smn^73Ao, wit^UAS.cMa has NMJ bouton phenotype

(Chang et al., 2008)

Mad¹²/Mad[+], Smn^73Ao has NMJ bouton phenotype

(Chang et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Cbp20^e02787/Smn^73Ao or FMRFa^KG01300/+;Smn^73Ao/+ third instar larvae show significant decreases in the number of boutons per muscle area at the neuromuscular junction, compared to heterozygotes (heterozygotes are similar to wild type).

(Dimitriadi et al., 2010)

Expression of wit^Scer\UAS.cMa under the control of Scer\GAL4^elav.PLu in a Smn^73Ao/+ background results in a reduction in bouton number per muscle area at the third larval instar neuromuscular junction compared to wild type.

Smn^73Ao/Mad¹² double heterozygotes show a reduction in bouton number per muscle area at the third larval instar neuromuscular junction compared to wild type.

The reduction in bouton number per muscle area at the neuromuscular junction that is seen in Smn^73Ao/Smn^f01109 third instar larvae is suppressed by Dad^271-68/Dad^271-68.

(Chang et al., 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Smn^f05960

(Chang et al., 2008)

Smn^X7

(Chang et al., 2008)

Smn^B

(Chan et al., 2003)