FlyBase Allele Report: Dmel\sns[4.3]

General Information

Symbol

Dmel\sns^4.3

Species

D. melanogaster

Name

FlyBase ID

FBal0230425

Feature type

allele

Associated gene

Dmel\sns

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Zhuang et al., 2009)

Mutagen

ethyl methanesulfonate

(Kaipa et al., 2013, Zhuang et al., 2009)

Progenitor genotype

Cytology

Description

Amino acid replacement: V1003E.

(Kaipa et al., 2013, Zhuang et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:8,832,447..8,832,447 [+]

Nucleotide change:

T8832447A

Amino acid change:

V1001E | sns-PA; V1001E | sns-PB; V1001E | sns-PC

Reported amino acid change:

V1003E

Comment:

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

(Kaipa et al., 2013, Zhuang et al., 2009)

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 nephrotic syndrome type 1

CEA

(Zhuang et al., 2009)

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

Phenotype Manifest In

embryonic/larval garland cell

(Zhuang et al., 2009)

embryonic myoblast

(Kaipa et al., 2013)

Detailed Description

Statement

Reference

Homozygous embryos show defects in myoblast fusion.

(Kaipa et al., 2013)

A small number of homozygotes survive to pupal development.

The garland cell nephrocytes of mutant third instar larvae have shape defects and are more loosely associated than normal.

The nephrocyte diaphragms in the garland cell nephrocytes of mutant second instar larvae are abnormal in structure when analysed by TEM.

Garland cell nephrocytes from mutant second instar larvae show reduced uptake of Alexa Fluor 555 BSA but not of dextran 10kD compared to controls after co-incubation with both tracers for 30 seconds.

Garland cell nephrocytes from mutant second instar larvae show efficient uptake of dextran 10kD after co-incubation with both Cascade Blue dextran 10kD and fluorescein dextran 500kD for 5 minutes. However, these cells show a very poor uptake of dextran 500kD under these conditions compared to controls.

(Zhuang et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

sns^4.3 has embryonic myoblast phenotype, enhanceable by dock[+]/dock⁰⁴⁷²³

(Kaipa et al., 2013)

sns^4.3 has embryonic myoblast phenotype, enhanceable by dock⁰⁴⁷²³/dock⁰⁴⁷²³

(Kaipa et al., 2013)

Additional Comments

Genetic Interactions

Statement

Reference

The number of unfused myoblasts in sns^4.3 embryos is enhanced if they are either heterozygous or homozygous for dock⁰⁴⁷²³.

(Kaipa et al., 2013)

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 (1)

Reported As

Symbol Synonym

sns^4.3

(Kaipa et al., 2013, Zhuang et al., 2009)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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