FlyBase Allele Report: Dmel\sn[S289N]

General Information

Symbol

Dmel\sn^S289N

Species

D. melanogaster

Name

FlyBase ID

FBal0046500

Feature type

allele

Associated gene

Dmel\sn

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

(Cant et al., 1998)

Mutagen

ethyl methanesulfonate

(Cant et al., 1998, Cant and Cooley, 1996)

Progenitor genotype

Cytology

Description

Amino acid replacement: S289N. S289 lies in a region with no homology to actin binding domains in other proteins. Nucleotide substitution: G?A.

(Cant and Cooley, 1996)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:7,984,709..7,984,709 [+]

Nucleotide change:

G7984709A

Reported nucleotide change:

G?A

Amino acid change:

S289N | sn-PA; S289N | sn-PB; S289N | sn-PE; S289N | sn-PG

Reported amino acid change:

S289N

(Cant and Cooley, 1996)

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 ( 0 )

Disease

Evidence

References

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

female sterile | recessive

(Cant et al., 1998)

sterile | recessive

(Cant and Cooley, 1996)

visible | recessive

(Tilney et al., 1998)

Phenotype Manifest In

egg

(Cant et al., 1998)

egg chamber

(Cant et al., 1998)

macrochaeta

(Tilney et al., 1998, Cant and Cooley, 1996)

macrochaeta & actin filament

(Tilney et al., 1998)

microchaeta

(Tilney et al., 1998)

nurse cell

(Cant and Cooley, 1996)

oocyte

(Cant and Cooley, 1996)

Detailed Description

Statement

Reference

Cytoplasmic actin bundles fail to form in the egg chambers of homozygous females, and the mature eggs from these females are 50% normal size.

(Cant et al., 1998)

The macrochaetae and microchaetae of homozygous male pupae are twisted and have grooves which twist along their length. These grooves are deep and often split or fuse with each other. The actin bundles in the bristles are small, rectangular in shape and are usually associated with the membrane. There are also internal actin bundles which are generally associated or connected to a vesicle or within an infolding of the plasma membrane.

(Tilney et al., 1998)

Bristle morphology is affected, only slightly less so than for sn^X2. Eggs are 50% of the size of wild type eggs. Actin bundles in nurse cells are nearly absent. Rapid phase of cytoplasmic transport is disrupted. These phenotypes are comparable to those for sn^X2.

(Cant and Cooley, 1996)

Mutants have gnarled bristles and are sterile due to an absence of nurse cell cytoplasmic actin bundles.

(Cooley et al., 1996)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

qua^Germ.WT, sn^S289N has female fertile phenotype

(Cant et al., 1998)

Phenotype Manifest In

Suppressed by

Statement

Reference

sn^S289N has egg phenotype, suppressible by qua^Germ.WT

(Cant et al., 1998)

sn^S289N has egg chamber phenotype, suppressible by qua^Germ.WT

(Cant et al., 1998)

NOT suppressed by

Statement

Reference

sn^S289N has phenotype, non-suppressible by qua^Germ.HL

(Cant et al., 1998)

Additional Comments

Genetic Interactions

Statement

Reference

The phenotype is suppressed by qua^Germ.WT; sn^S289N females carrying two copies of qua^Germ.WT are fertile, the cytoplasmic actin bundles of the egg chambers appear wild-type, and mature eggs are the same size as wild-type. The egg phenotype is not rescued by qua^Germ.HL.

(Cant et al., 1998)

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

sn^S289N

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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