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General Information
Symbol
Dmel\spn-A093A
Species
D. melanogaster
Name
FlyBase ID
FBal0151428
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
spn-A093, spnA093, spnA093A
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

C30055669T

Amino acid change:

Q70term | spn-A-PA; Q13term | spn-A-PB

Reported amino acid change:

Q70term

Comment:

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

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: Q70term.

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 ( 1 )
Disease
Interaction
References
ameliorates  Bloom syndrome
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

spn-A093A/spn-A1 but not spn-A093A/+ females lay eggs with defective dorsal appendages (fused, narrowly spaced or missing) when compared to controls.

Eggs laid by spn-A093A/spn-A1 females display a range of ventralisation phenotypes, ranging from fusion at the base of the dorsal appendages through to complete lack of the appendages.

spn-A1/spn-A093A females produce eggs with ventralised eggshells.

spn-A3/spn-A093A males in which excision of an insertion of P{hswa} is induced during development are completely viable.

spn-A3/spn-A093A third instar larvae show increased sensitivity to high doses of gamma irradiation compared to controls.

The complete copia element in wa.hs has an LTR at each end. Following excision of P{hswa}, repair by SDSA (synthesis-dependent strand annealing) can lead to excision of this copia element due to annealing at these LTRs, resulting in red eyed progeny. Incomplete SDSA, where joining has occurred independently of annealing of homologous ends, can delete parts of the w ORF in wa.hs resulting in yellow eyed progeny. The frequency of red eyed progeny (and therefore of complete SDSA) following excision of P{hswa}sdwa using H{PΔ2-3}HoP2.1 is decreased from 6% to zero in a spn-A3/spn-A093A background, but the frequency of yellow eyed progeny (and therefore of incomplete SDSA) is increased from 10% to 17%. This background does not significantly affect the proportion of hemizygous lethal sd deletions resulting from this excision, but does decrease the proportion of excisions resulting non-lethal deletions (from 7% to 1.7%).

spn-A093A/Df(3R)X3F germ-line clones produce oocytes who DNA is less organised than the wild-type karyosome. The DNA clusters along the periphery of the nucleus adjacent to the nuclear membrane. Homozygous mutant animals and spn-A048B/spn-A093A mutants are sensitive to X ray irradiation when irradiated at either 24-48 or 48-72 hours after egg laying (AEL). Little difference in viability is seen in irradiated at 0-24 hours AEL. The synaptonemal complex in spn-A093A/Df(3R)X3F ovaries persists longer than in wild-type, suggesting a delay in the resolution of synapsis. Double strand breaks form at the normal time, but their resolution is delayed. When spn-A093A/Df(3R)X3F eggs are produced ,about 31% of eggs are wild-type in appearance, 69% have a mild ventralisation phenotype, the dorsal appendages are fused. spn-A048B/spn-A093A animals are sensitive to X ray irradiation when irradiated at either 24-48 or 48-72 hours after egg laying (AEL). Little difference in viability is seen in irradiated at 0-24 hours AEL.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference
NOT Enhanced by
Statement
Reference
Suppressed by
NOT suppressed by
Enhancer of
Statement
Reference
NOT Enhancer of
Statement
Reference
Suppressor of
Statement
Reference
NOT Suppressor of
Statement
Reference

spn-A093A is a non-suppressor of radiation sensitive phenotype of spn-B1

Other
Phenotype Manifest In
NOT Enhanced by
Statement
Reference
Suppressed by
NOT suppressed by
Statement
Reference
Other
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

Xrcc2CC homozygous females in the heterozygous background of spn-A093A lay eggs with defective dorsal appendages (fused, narrowly spaced, branched or shortened) when compared to controls.

The hypersensitivity of Df(3R)mus308Δ/Df(3R)mus308Δ;spn-A3/spn-A093A double mutant third instar larvae to ionizing radiation is rescued by combination with either the mus308+tBa or the mus308ATPase-dead transgene but not by mus308pol-dead.

Df(3R)mus308Δ/Df(3R)mus308Δ;spn-A3/spn-A093A mutants show a significant reduction in the frequency of end joining repair events in a P{hsw[a]}-excision repair assay, which can be rescued with mus308+tBa and mus308ATPase-dead but not mus308pol-dead.

eIF-1ABH167 dominantly suppresses the eggshell patterning defects in spn-A3/spn-A093A mutants.

The ventralisation phenotype seen in eggs laid by spn-A093A/spn-A1 females is suppressed if the females are also mutant for LnkCR642/Lnkd07478.

There is a decrease in the percentage of end-joining repair products in studies of excision and repair events of P{hswa} in spn-A093A mus308D5/spn-A3 mus308ZIII-2003 double mutant males compared to the percentage seen in spn-A single mutants. The double mutants show a substantial increase in the percentage of deletion-associated repair events isolated compared to controls, as occurs in mus308 single mutants. These males show increased sterility.

There is a decrease in the percentage of end-joining repair products in studies of excision and repair events of P{hswa} in spn-A093A mus308D5/spn-A093A mus308ZIII-3294 double mutant males compared to the percentage seen in spn-A single mutants. The double mutants show an increase in the percentage of deletion-associated repair events isolated compared to controls, as occurs in mus308 single mutants. These males show increased sterility.

The spn-A3/spn-A093A transheterozygous condition does not suppress the lethality of mus312D1/mus312Z1973, mus309D2/mus309N1 double mutants.

The ventralised eggshell phenotype produced by spn-A1/spn-A093A females is suppressed by mei-W681.

The lethality seen in mei-4129D males in which excision of an insertion of P{hswa} is induced during development is completely suppressed by spn-A3/spn-A093A.

At intermediate doses (400-500 rad) of gamma irradiation, Lig4169 spn-A3/spn-A093A double mutant larvae show increased sensitivity to irradiation compared to spn-A3/spn-A093A single mutants.

spn-A3/spn-A093A suppresses the increase deletions resulting from the H{PΔ2-3}HoP2.1 driven of excision of P{hswa}sdwa due to a mus309D2/mus309D3 background.

The addition of homozygous mei-W681 completely suppresses the ventralisation phenotype seen in spn-A093A/Df(3R)X3F mutants. The addition of homozygous lok (Using a combination of Df(2L)pr2b, Df(2L)be408, vls+tMa and barr+tMa) completely suppresses the ventralisation phenotype seen in spn-A093A/Df(3R)X3F mutants. The karyosome also appears normal in these mutants.

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 (6)
References (23)