FlyBase Allele Report: Dmel\sif[ES11]

General Information

Symbol

Dmel\sif^ES11

Species

D. melanogaster

Name

FlyBase ID

FBal0119153

Feature type

allele

Associated gene

Dmel\sif

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Sone et al., 2000)

Progenitor genotype

Cytology

Description

11bp sequence (CCTTTTTCCAG) is inserted after nucleotide 3502, causing a frameshift mutation. The resulting protein is truncated, containing sif amino acid residues 1-1112 and 4 additional amino acids, and lacks the DH domain.

(Sone et al., 2000)

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 neurodevelopmental disorder with language delay and seizures

CEC

(Lu et al., 2022)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | recessive

(Sone et al., 2000)

abnormal neuroanatomy (with Df(3L)64D-F)

(Sone et al., 2000)

lethal

(Lu et al., 2022)

viable (with Df(3L)BSC884)

(Lu et al., 2022)

viable (with sif^{MI02376-TG4.2})

(Lu et al., 2022)

viable (with sif^MI07526)

(Lu et al., 2022)

Phenotype Manifest In

bouton (with Df(3L)64D-F)

(Sone et al., 2000)

Detailed Description

Statement

Reference

sif^ES11/Df(3L)64D-F neuromuscular junctions show reliable homeostatic compensation (increase in quantal content) after treatment with philanthotoxin-433 for 10 minutes.

(Dickman and Davis, 2009)

Mutant flies show reduced locomotor activity. The synaptic bouton number at the neuromuscular junction (NMJ) (normalised by the muscle surface area) is slightly but significantly reduced compared with control larvae in sif^ES11/Df(3L)64D-F animals. Properties of basic synaptic transmission at the NMJ, such as the frequency and amplitude of spontaneous MJPs, the amplitude of EJPs and the quantal content are not significantly altered in sif^ES11/Df(3L)64D-F animals compared to wild type. Vesicle endocytosis is also apparently unchanged.

(Sone et al., 2000)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

sif^ES11/sif[+] is an enhancer of abnormal neuroanatomy phenotype of LIMK1^UAS.Tag:HA, Scer\GAL4^ey-OK107

(Ng and Luo, 2004)

NOT Suppressor of

Statement

Reference

sif^ES11 is a non-suppressor of abnormal neuroanatomy | third instar larval stage phenotype of Rac1^UAS.cLa, Scer\GAL4^RapGAP1-OK6

(Ball et al., 2010)

Phenotype Manifest In

Suppressed by

Statement

Reference

sif^ES11 has bouton phenotype, suppressible by Fas2^e76

(Sone et al., 2000)

Enhancer of

Statement

Reference

sif^ES11/sif[+] is an enhancer of adult mushroom body phenotype of LIMK1^UAS.Tag:HA, Scer\GAL4^ey-OK107

(Ng and Luo, 2004)

Suppressor of

Statement

Reference

sif^ES11 is a suppressor of bouton phenotype of Fas2^e76

(Sone et al., 2000)

NOT Suppressor of

Statement

Reference

sif^ES11 is a non-suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of Rac1^UAS.cLa, Scer\GAL4^RapGAP1-OK6

(Ball et al., 2010)

sif^ES11/sif[+] is a non-suppressor of NMJ bouton | third instar larval stage phenotype of Rac1^UAS.cLa, Scer\GAL4^RapGAP1-OK6

(Ball et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

One copy of sif^ES11 is unable to suppress the increase in larval neuromuscular junction bouton number seen when Rac1^Scer\UAS.cLa is expressed in neurons under the control of Scer\GAL4^OK6.

(Ball et al., 2010)

The number of boutons at the neuromuscular junction is restored to wild type in Fas2^e76 sif^ES11 double mutant larvae.

(Sone et al., 2000)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

sif^ES11/Df(3L)64D-F is rescued by sif^elav.PS

(Sone et al., 2000)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Kyoto

109572

sif^ES11 ru¹ hry¹ Diap1^th-1 st¹ cu¹ sr¹ e^s ca¹ / TM6, Sb¹ Tb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

sif^ES11

(Lu et al., 2022, Ball et al., 2010)

sif^es11

(Ng and Luo, 2004)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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