FB2025_01 , released February 20, 2025
Allele: Dmel\spn-E1
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General Information
Symbol
Dmel\spn-E1
Species
D. melanogaster
Name
FlyBase ID
FBal0016041
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
spn-E616, hlsE616, spnE1, spnE616, spnEE616
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Cytology
Description

Amino acid replacement: R1081term.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

C15842858T

Amino acid change:

R1081term | spn-E-PA

Reported amino acid change:

R1081term

Comment:

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

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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

The eggs laid by spn-E1/spn-Ehls-Δ125 mutant females exhibit moderate dorsoventral patterning defects. The majority of eggs laid are collapsed but many eggs with fused or no dorsal appendages are also seen.

Over half of spn-E1 eggs show a fused dorsal appendage phenotype and 28% of eggs show no dorsal appendages at all.

spn-E1/Df(3R)sbd105 mutants have a similar frequency of single-strand annealing repair (SSA) compared to controls in a P{wIw.FRT} hemizygous assay to study DNA double-stranded break repair when assayed at 38oC.

spn-E2/spn-E1 larvae are not sensitive to MMS.

Suppressor of repeat-induced silencing, as seen at heterochromatic tandem arrays of insertions of the P{lacW} transposon.

Nuage particles are lost in spn-E1/spn-Ehls-03987 nurse cells and the perinuclear nuage is smoother than normal.

82% of progeny derived from homozygous males mated to wild-type females hatch.

spn-E1/spn-E2 animals show the same survival rate after exposure to 0.08% methyl methanesulfonate as control animals.

In the primary spermatocytes of mutant males, numerous phenotypes are seen including tripolar meiosis, fragmented chromatin, chromatin bridges, unequal daughter nuclei, incomplete chromatin separation and lagging chromosomes. No unpaired homologs nor prematurely dissociated sister chromatids are observed. A failure in release of cohesion causes abnormal segregation of chromosomes. Primary spermatocytes also have needle-shaped crystals. Homozygotes and trans-heterozygotes with spn-E2, spn-Ehls-Δ125 and spn-Ehls-03987 show an increased rate of non-disjunction in all except the small 4th chromosome. There are also substantial biases in recovery of reciprocal sperm classes. Nullo-XY sperm are recovered in considerable excess over the reciprocal XY sperm class. Also a weaker bias in favour of normal X-bearing sperm is seen. spn-Ehls-Δ125/spn-E1 males that have inherited the spn-Ehls-Δ125 from their mother and spn-E1 from their father are sterile. Males from the reciprocal cross are fertile.

In contrast to wild-type ovaries, where the synaptonemal complex (SC) is always restricted to the oocyte by region 2b, spn-E1 mutant females show a significant delay in the process, with cysts with more than 1 cell in synapsis in region 3 of the germarium and one cell in synapsis in stage 2 of the vitellarium.

Hemizygous eggs exhibit either a strong or weak ventralised phenotype: eggs are longer than wild type and are completely symmetric along the DV axis or the eggs display fused dorsal appendages. Egg chambers of females exhibit a partially penetrant disruption in the positioning of the oocyte which can be located anywhere in the egg chamber. Almost all oocytes lack a karyosome and the oocyte chromosomes are arranged instead in thread-like figures with irregular shape. Double mutant stage 5-6 egg chambers with spn-A3 or mus301094 exhibit a two-oocyte phenotype: the second pro-oocyte develops as an oocyte rather than a nurse cell. The double mutants delay but do not block the decision between the two pro-oocytes as one of the two cells always becomes a nurse cell eventually.

Heterozygotes with Df(3R)sbd105 (spn-E-) exhibit mislocalised oocyte phenotype and degenerating egg chambers.

maternal-effect lethal 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
Enhancer of
Statement
Reference

spn-E1/spn-E[+] is an enhancer of suppressor of variegation phenotype of Atf-2c06407

NOT Enhancer of
Statement
Reference
NOT Suppressor of
Statement
Reference
Phenotype Manifest In
Enhanced by
Statement
Reference
NOT suppressed by
Statement
Reference

spn-E1 has dorsal appendage phenotype, non-suppressible by mei-41D3

Enhancer of
Statement
Reference

spn-E1 is an enhancer of oocyte phenotype of spn-D2

Other
Additional Comments
Genetic Interactions
Statement
Reference

The survival of roX1ex33A Df(1)roX2Δ adult males is not significantly altered if they are also heterozygous for spn-E1.

When Atf-2c06407/+ is combined with spn-E1/+, an additive effect on the derepression of w in In(1)wm4 flies is observed.

The fused dorsal appendage phenotype of spn-E1 eggs is not suppressed by mei-41D3.

spn-E1/+ does not impair cytotype-mediated repression of P-element excision.

spn-E1/ spn-Ehls-Δ125 primary spermatocytes have star-shaped crystals in combination with Steunspecified.

Double mutants with spn-D2 increases the oocyte mispositioning frequency.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer
Comments
Comments

Strong mutation.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (8)
References (57)