FlyBase Allele Report: Dmel\spartin[1]

General Information

Symbol

Dmel\spartin¹

Species

D. melanogaster

Name

FlyBase ID

FBal0284233

Feature type

allele

Associated gene

Dmel\spartin

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

amorphic allele - molecular evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Nahm et al., 2013)

Mutagen

P-element activity

(Nahm et al., 2013)

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

P{EP}G8635

(Nahm et al., 2013)

Cytology

Nature of the lesion

Statement

Reference

Imprecise excision of the progenitor insertion resulting in a 1957bp deletion that removes the 5' part of spartin.

(Nahm et al., 2013)

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 Troyer syndrome

CEA

(Nahm et al., 2013)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Troyer syndrome

is ameliorated by futsch^K68

(Nahm et al., 2013)

is exacerbated by Eps-15^e75

(Nahm et al., 2013)

is ameliorated by Dad^UAS.cTa

(Nahm et al., 2013)

is exacerbated by futsch^EP1419

(Nahm et al., 2013)

is ameliorated by wit^A12

(Nahm et al., 2013)

is exacerbated by Fmr1^Δ50M

(Nahm et al., 2013)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage (with Df(3R)110)

(Nahm et al., 2013)

abnormal neuroanatomy | adult stage | progressive (with Df(3R)110)

(Nahm et al., 2013)

abnormal neuroanatomy | third instar larval stage

(Nahm et al., 2013)

abnormal neuroanatomy | third instar larval stage (with Df(3R)110)

(Nahm et al., 2013)

abnormal neurophysiology | third instar larval stage

(Nahm et al., 2013)

abnormal neurophysiology | third instar larval stage (with Df(3R)110)

(Nahm et al., 2013)

fertile

(Nahm et al., 2013)

fertile (with Df(3R)110)

(Nahm et al., 2013)

viable

(Nahm et al., 2013)

viable (with Df(3R)110)

(Nahm et al., 2013)

Phenotype Manifest In

adult brain | progressive (with Df(3R)110)

(Nahm et al., 2013)

NMJ bouton | increased number | third instar larval stage

(Nahm et al., 2013)

NMJ bouton | increased number | third instar larval stage (with Df(3R)110)

(Nahm et al., 2013)

Detailed Description

Statement

Reference

Homozygous and spartin¹/Df(3R)110 third instar larvae show clear overgrowth of the neuromuscular junction. Bouton number and satellite bouton number are increased by approximately 40% and 90% respectively compared to controls.

The mean amplitude of the evoked excitatory junction current (EJC) is consistently decreased compared to wild type at the homozygous and spartin¹/Df(3R)110 third larval instar neuromuscular junction.

The mean amplitude of spontaneous mEJCs is not altered compared to wild type in mutant third instar larvae. mEJC frequency is reduced compared to wild type in homozygous third instar larvae.

The neuromuscular junctions of spartin¹/Df(3R)110 third instar larvae show impaired FM1-43FX dye uptake compared to wild type, indicating a defect in synaptic vesicle endocytosis.

20 day old spartin¹/Df(3R)110 adults show significantly reduced climbing ability compared to wild-type controls.

spartin¹/Df(3R)110 adults show age-dependent neurodegeneration.

(Nahm et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

spartin¹/Df(3R)110 has abnormal neuroanatomy | adult stage | progressive phenotype, enhanceable by Scer\GAL4^elav-C155/futsch^EP1419

(Nahm et al., 2013)

Suppressed by

Statement

Reference

spartin¹/Df(3R)110 has abnormal neurophysiology | third instar larval stage phenotype, suppressible by wit^A12/wit[+]

(Nahm et al., 2013)

spartin¹/Df(3R)110 has abnormal neuroanatomy | adult stage | progressive phenotype, suppressible by wit^A12/wit[+]

(Nahm et al., 2013)

spartin¹/Df(3R)110 has abnormal neuroanatomy | adult stage | progressive phenotype, suppressible by futsch^K68/futsch[+]

(Nahm et al., 2013)

spartin¹/Df(3R)110 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Scer\GAL4^elav-C155/Hsap\SPART^UAS.Tag:MYC

(Nahm et al., 2013)

spartin¹/Df(3R)110 has abnormal neuroanatomy | adult stage | progressive phenotype, suppressible by Scer\GAL4^elav-C155/Hsap\SPART^UAS.Tag:MYC

(Nahm et al., 2013)

Enhancer of

Statement

Reference

spartin¹/Df(3R)110 is an enhancer of abnormal neuroanatomy | adult stage phenotype of Scer\GAL4^elav-C155, futsch^EP1419

(Nahm et al., 2013)

Suppressor of

Statement

Reference

spartin¹/Df(3R)110 is a suppressor of abnormal neuroanatomy | dominant | adult stage phenotype of futsch^K68

(Nahm et al., 2013)

Other

Statement

Reference

Fmr1^Δ50M, spartin[+]/spartin¹ has abnormal neuroanatomy | dominant | third instar larval stage phenotype

(Nahm et al., 2013)

Phenotype Manifest In

Enhanced by

Statement

Reference

spartin¹/Df(3R)110 has adult brain | progressive phenotype, enhanceable by Scer\GAL4^elav-C155/futsch^EP1419

(Nahm et al., 2013)

Suppressed by

Statement

Reference

spartin¹/Df(3R)110 has NMJ bouton | increased number | third instar larval stage phenotype, suppressible by wit^A12/wit[+]

(Nahm et al., 2013)

spartin¹/Df(3R)110 has adult brain | progressive phenotype, suppressible by wit^A12/wit[+]

(Nahm et al., 2013)

spartin¹/Df(3R)110 has adult brain | progressive phenotype, suppressible by futsch^K68/futsch[+]

(Nahm et al., 2013)

spartin¹/Df(3R)110 has NMJ bouton | increased number | third instar larval stage phenotype, suppressible by Scer\GAL4^elav-C155/Hsap\SPART^UAS.Tag:MYC

(Nahm et al., 2013)

spartin¹/Df(3R)110 has adult brain | progressive phenotype, suppressible by Scer\GAL4^elav-C155/Hsap\SPART^UAS.Tag:MYC

(Nahm et al., 2013)

Enhancer of

Statement

Reference

spartin¹/Df(3R)110 is an enhancer of adult brain phenotype of Scer\GAL4^elav-C155, futsch^EP1419

(Nahm et al., 2013)

Suppressor of

Statement

Reference

spartin¹/Df(3R)110 is a suppressor of adult brain phenotype of futsch^K68

(Nahm et al., 2013)

Other

Statement

Reference

Fmr1^Δ50M, spartin[+]/spartin¹ has NMJ bouton | increased number | third instar larval stage phenotype

(Nahm et al., 2013)

Additional Comments

Genetic Interactions

Statement

Reference

Eps-15^e75/+ ; spartin¹/+ double heterozygotes show impaired FM1-43FX dye uptake at the neuromuscular junction compared to wild type.

wit^A12/+ suppresses the increase in bouton number and satellite bouton number seen at the neuromuscular junction in spartin¹/Df(3R)110 third instar larvae.

wit^A12 spartin¹/wit^B11 Df(3R)110 double mutant larvae show a significant decrease in bouton number and satellite bouton number at the neuromuscular junction compared to controls, as occurs in wit^A12/wit^B11 single mutant larvae.

Fmr1^Δ50M spartin¹ double heterozygous third instar larvae show an increase in bouton number and satellite bouton number at the neuromuscular junction compared to controls.

wit^A12/+ strongly suppresses the brain vacuolisation seen in 20 day old spartin¹/Df(3R)110 adults.

The brain vacuolisation seen in 20 day old spartin¹/Df(3R)110 and futsch^K68/+ adults is suppressed in futsch^K68/+ ; spartin¹/Df(3R)110 double mutant flies.

Expression of futsch^EP1419 under the control of Scer\GAL4^elav-C155 in a spartin¹/Df(3R)110 background enhances the number of vacuoles in the brain of 20 day old flies compared to either single mutant.

(Nahm et al., 2013)

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\SPG20^{Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^elav-C155 rescues the increase in bouton number and satellite bouton number seen at the neuromuscular junction in spartin¹/Df(3R)110 third instar larvae.

Expression of Hsap\SPG20^{Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^elav-C155 rescues the show age-dependent neurodegeneration seen in spartin¹/Df(3R)110 adults.

(Nahm et al., 2013)

Complementation and Rescue Data

Rescued by

spartin¹/Df(3R)110 is rescued by Scer\GAL4^elav-C155/spartin^UAS.Tag:HA

(Nahm et al., 2013)

Not rescued by

spartin¹/Df(3R)110 is not rescued by spartin^UAS.Tag:HA/Scer\GAL4^C57

(Nahm et al., 2013)

spartin¹/Df(3R)110 is not rescued by Scer\GAL4^elav-C155/spartin^{Δeps15.UAS.Tag:HA}

(Nahm et al., 2013)

Comments

Expression of spartin^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav-C155 rescues the increase in bouton number and satellite bouton number and the decrease in the amplitude of the evoked excitatory junction current seen at the neuromuscular junction in spartin¹/Df(3R)110 third instar larvae. Expression under the control of Scer\GAL4^C57 does not rescue these phenotypes.

Expression of spartin^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav-C155 rescues the impaired FM1-43FX dye uptake seen in the neuromuscular junctions of spartin¹/Df(3R)110 third instar larvae.

Expression of spartin^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav-C155 fails to rescue the increase in bouton number and satellite bouton number and the impaired FM1-43FX dye uptake seen at the neuromuscular junction in spartin¹/Df(3R)110 third instar larvae.

Expression of spartin^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav-C155 rescues the reduced climbing ability of 20 day old spartin¹/Df(3R)110 adults.

Expression of spartin^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav-C155 rescues the show age-dependent neurodegeneration seen in spartin¹/Df(3R)110 adults.

(Nahm et al., 2013)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

spartin¹

(Nahm et al., 2013)

Name Synonyms

Secondary FlyBase IDs

References (1)

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