FlyBase Allele Report: Dmel\sax[3]

General Information

Symbol

Dmel\sax³

Species

D. melanogaster

Name

FlyBase ID

FBal0154657

Feature type

allele

Associated gene

Dmel\sax

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Twombly et al., 2009)

Progenitor genotype

Cytology

Description

A premature stop codon in the extracellular domain.

(Twombly et al., 2009)

Amino acid replacement: Q121term.

(Twombly et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:7,807,801..7,807,801 [+]

Nucleotide change:

C7807801T

Reported nucleotide change:

C?T

Amino acid change:

Q121term | sax-PA; Q86term | sax-PB; Q133term | sax-PC

Reported amino acid change:

Q121term

(Twombly 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 ( 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

abnormal developmental rate | larval stage (with Df(2R)H23)

(Twombly et al., 2009)

abnormal size | larval stage (with Df(2R)H23)

(Twombly et al., 2009)

lethal (with Df(2R)H23)

(Twombly et al., 2009)

lethal (with Df(2R)sax^1rv2)

(Twombly et al., 2009)

lethal (with Df(2R)sax-H9)

(Twombly et al., 2009)

lethal (with sax^1rv1)

(Twombly et al., 2009)

lethal (with sax^1rv5)

(Twombly et al., 2009)

lethal (with sax⁵)

(Twombly et al., 2009)

lethal (with sax⁶)

(Twombly et al., 2009)

lethal | larval stage (with sax⁴)

(Twombly et al., 2009)

lethal | maternal effect (with Df(2R)H23)

(Twombly et al., 2009)

lethal | maternal effect (with Df(2R)sax-H9)

(Twombly et al., 2009)

lethal | P-stage (with sax⁴)

(Twombly et al., 2009)

partially lethal - majority die (with sax^P)

(Twombly et al., 2009)

viable (with sax¹)

(Twombly et al., 2009)

viable (with sax²)

(Twombly et al., 2009)

Phenotype Manifest In

brain | larval stage (with Df(2R)H23)

(Twombly et al., 2009)

egg | maternal effect (with Df(2R)H23)

(Twombly et al., 2009)

egg | maternal effect (with Df(2R)sax-H9)

(Twombly et al., 2009)

imaginal disc (with Df(2R)H23)

(Twombly et al., 2009)

tracheal section | larval stage (with Df(2R)H23)

(Twombly et al., 2009)

wing vein (with Df(2R)H23)

(Twombly et al., 2009)

wing vein (with Df(2R)sax-H9)

(Twombly et al., 2009)

Detailed Description

Statement

Reference

sax³ exhibits a very low level of viability (0.6-2%) in trans to Df(2R)H23, sax^1rv1, sax^1rv5 and Df(2R)sax-H9. Hemizygous adult escapers display wing venation defects (50% penetrance), while females display 100% maternal effect lethality with severely reduced egg production.

Less than 5% of sax³/Df(2R)H23 hemizygous mutant larvae exhibit developmental delay, lethargy, a reduction in the size of imaginal discs, brain | larval stage, and midgut structures, as well as trachea | larval stagel truncations.

(Twombly et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

When dpp[hr4]/+ males are crossed to sax³/+ females, the resulting dpp^hr4/+ progeny do not show any significant drop in viability compared to the dpp^hr4/+ progeny of wild-type mothers in control crosses.

(Twombly et al., 2009)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

sax³/Df(2R)sax-H9 is rescued by sax^hs.PB

(Twombly et al., 2009)

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

sax³

(Twombly et al., 2009)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

Open Close