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General Information
Symbol
Dmel\spn-A1
Species
D. melanogaster
Name
FlyBase ID
FBal0016029
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
spnA1, spn-A003, rad511
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G30055431A

Amino acid change:

G149D | spn-A-PA; G92D | spn-A-PB

Reported amino acid change:

G149D

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: G149D.

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
Phenotype Manifest In
Detailed Description
Statement
Reference

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

spn-A1 homozygous third instar larval brain neuroblasts show a small increase in the frequency of chromosomal aberrations, as compared to controls.

spn-A1/spn-A1 third instar larval brains exhibit a similar frequency of cells with chromosome aberrations and no telomeric fusions compared to controls.

spn-A1 mutant female ovarioles exhibit abnormal karyosome morphology, as 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.

Mutant oocytes show defects in karyosome morphology. The DNA is thread-like or oblong in 68% of egg chambers and 27% of egg chambers show a distorted oocyte nuclear membrane.

spn-A1 mutants exhibit an accumulation of γHis2Av foci that persist through meiotic prophase, corresponding to unrepaired meiotic double-strand breaks. A mean of 22.8 γ-His2Av foci is present in spn-A1 region 3 oocytes, which is similar to estimates for the total number of double strand breaks per nucleus.

Homozygous females show a high frequency (approximately 70%) of region 3 cysts with two pro-oocytes (as assayed by c(3)G staining) compared to a frequency of only 9.5% in wild type.

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

spn-A1/spn-A1 and spn-A1/Df(3R)X3F mutants have a significantly elevated frequency of single-strand annealing repair (SSA) compared to controls in a P{wIw.FRT} hemizygous assay to study DNA double-stranded break repair.

spn-A1/Df(3R)X3F mutants have a significantly elevated frequency of single-strand annealing repair (SSA) compared to controls in a P{wIw.FRT}/P{wIw.FRT.8z} homozygous assay to study DNA double-stranded break repair, while interhomolog gene conversion (GC) is abolished.

Heterozygotes show a reduced survival rate following irradiation compared to control animals.

Egg shape affected; in extreme cases dorsal appendages are lacking and eggs have little or no dorsal-ventral polarity; some eggs have one fused dorsal appendage. Low fecundity; eggs often slightly collapsed.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Enhanced by
NOT Enhanced by
Statement
Reference
Suppressed by
Statement
Reference
NOT suppressed by
Statement
Reference

spn-A1 has presumptive oocyte phenotype, non-suppressible by mei-P22103

Enhancer of
Suppressor of
Other
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

Xrcc2CC homozygous females in the heterozygous background of spn-A1 lay eggs with defective dorsal appendages (fused, narrowly spaced, branched or shortened) when compared to controls.

A very small proportion of Pol32L30/Pol32L27 adults show an etched abdomen phenotype; this phenotype is not much affected in a spn-A1/+ background.

lokp6/+ suppresses the abnormal karyosome morphology observed in spn-A1 mutants.

The high frequency of region 3 cysts containing two pro-oocytes that is seen in spn-A1 homozygous females is suppressed by rec2 but is not suppressed by mei-P22103.

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

The triple mutant of mus815.1, mus309D2 and spn-A1 is lethal.

The elevated recombination caused by mus309D2 is abolished by spn-A1.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
Comments
Comments
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (7)
References (26)