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General Information
Symbol
Dmel\Cap-H2Z3-0019
Species
D. melanogaster
Name
FlyBase ID
FBal0219642
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

G10765260A

Reported nucleotide change:

G?A

Amino acid change:

W581term | Cap-H2-PD; W772term | Cap-H2-PE; W759term | Cap-H2-PF; W771term | Cap-H2-PG

Reported amino acid change:

W?term

Comment:

The location of the TGG to TGA nonsense mutation was determined from the published surrounding sequences. A polymorphism in thefirst intron was also found in the strain.

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

A to T change in the first intron and a G to A mutation that changes a Trp residue to a stop codon.

Nucleotide substitution: A?T.

Amino acid replacement: W?term.

Nucleotide substitution: G?A.

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 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Cap-H2Z3-0019/Df(3R)Exel6159 and Cap-H2Z3-0019/Cap-H2TH1 transheterozygous males are sterile.

Cap-H2Z3-0019 homozygous males are seemingly devoid of sperm, indicating a defect in gamete production.

Cap-H2Z3-0019/Cap-H2Z3-5163 mutants exhibit decreased fertility. There is no significant difference in male fertility between Cap-H2Z3-0019/Cap-H2Z3-5163 and Cap-H2Z3-5163/+ males.

Sex chromosome nondisjunction is not found in Cap-H2Z3-0019, Cap-H2Z3-0019/Cap-H2Z3-5163 or Cap-H2Z3-0019/+ mutants.

Fourth chromosome segregation does not differ substantially between Cap-H2Z3-0019/Cap-H2Z3-5163 and Cap-H2Z3-0019 heterozygous control males.

Cap-H2Z3-0019/Cap-H2Z3-5163 mutants exhibit an elevated level of exceptional progeny where the second or third chromosomes are exceptional. in both cases the exceptional class most over represented are those from fertilization events involving sperm that lack a 2nd or 3rd chromosome.

Cap-H2Z3-0019/Cap-H2Z3-5163 and Cap-H2Z3-0019/+ mutants exhibit meiosis I nondisjunction. There may also be a slight increase in meiosis II nondisjunction.

In male sterile mutants of the genotype Cap-H2Z3-0019/Cap-H2TH1, chromosomal organizational steps throughout prophase I are defective, as normal territory formation is never observed in 100% of S2, S4, and S6 stages. Instead, chromatin is seemingly dispersed within the nucleus.

No prophase I defects are observed in Cap-H2Z3-0019/Cap-H2Z3-5163 males, although subtle morphological changes may be difficult to detect.

M1 of meiosis I may be morphologically abnormal in Cap-H2Z3-0019/Cap-H2TH1 mutants. Despite not forming normal chromosome territories and possibly never reaching normal M1 chromosomal structure, there are no unusual features detected in Cap-H2Z3-0019/Cap-H2TH1 male sterile metaphase I figures. Anaphase I is clearly not normal in Cap-H2Z3-0019/Cap-H2TH1 mutants, where bridges are often found between segregating sets of chromosomes. The frequency of these bridges occurs in a manner tha matches other phenotypic trends, found in 30.4% of the anaphase I figures for sterile Cap-H2Z3-0019/Cap-H2TH1 males, 11.5% for Cap-H2Z3-0019/Cap-H2TH1 males that are fertile yet undergo 2nd and 3rd chromosome loss, and never in the wild-type. Whereas bridging anaphase I figures are never observed in wild-type squashed chromosome preparations, bridging occurs in 40.5% of those from Cap-H2Z3-0019/Cap-H2TH1 mutant males. Of the total anaphase I figures from Cap-H2Z3-0019/Cap-H2TH1 mutant testes, 21.4% appear to have anaphase I bridging between homologous chromosomes. The 4th chromosome is bridged in 4.8% of anaphase I figures. As an expected outcome of cosegregation in meiosis I, aneuploidy in prophase II and anaphase II figures is observed.

In onion stages from Cap-H2Z3-0019 homozygotes, micronuclei are often observed which may be the manifestation of chromatin lost through anaphase I bridging.

Homozygous nurse cells do not exhibit an alteration in endocycling compared to controls; there is no significant difference in the number of homozygous and heterozygous nurse cells undergoing S phase per stage 5, 6, 10 and 11/12 egg chambers. Homozygous nurse cells do not show a change in DNA replication content compared to controls.

Homozygous larval neuroblasts do not show a change in cell cycle regulation compared to controls (assayed using flow cytometry analysis).

Polyteny persists in 100% of the nurse cells in stage 10 egg chambers of Cap-H2Z3-0019/Cap-H2Z3-5163 and Cap-H2Z3-0019/Df(3R)Exel6159 females (in contrast to wild-type nurse cells, which disassemble their polytene chromosomes during mid-oogenesis).

Cap-H2Z3-0019 has no dominant effect on position effect variegation at the w locus caused by In(1)wm4h.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference
Enhancer of
Statement
Reference

Cap-H2Z3-0019/Cap-H2[+] is an enhancer of visible | dominant phenotype of Ubx1:Cbx-1

Suppressor of
Statement
Reference
Phenotype Manifest In
Enhanced by
Statement
Reference

Cap-H2Z3-0019, glu[+]/gluk08819 has polytene chromosome phenotype, enhanceable by slmb[+]/slmbUU11

Cap-H2Z3-0019, glu[+]/gluk08819 has nurse cell phenotype, enhanceable by slmb[+]/slmbUU11

Cap-H2Z3-0019, glu[+]/gluk08819 has polytene chromosome phenotype, enhanceable by slmb3A1/slmb3A1/slmb[+]

Cap-H2Z3-0019, glu[+]/gluk08819 has nurse cell phenotype, enhanceable by slmb3A1/slmb3A1/slmb[+]

Suppressed by
Enhancer of
Statement
Reference

Cap-H2Z3-0019/Cap-H2[+] is an enhancer of wing phenotype of Ubx1:Cbx-1

Cap-H2Z3-0019/Cap-H2[+] is an enhancer of polytene chromosome & nurse cell phenotype of Cap-D3EY00456/Df(2L)Exel7023

Suppressor of
Statement
Reference
Other
Statement
Reference

Cap-H2Z3-0019, glu[+]/gluk08819 has polytene chromosome & nurse cell phenotype

Additional Comments
Genetic Interactions
Statement
Reference

gluk08819/+ ; Cap-H2Z3-0019/+ double heterozygotes show some unpairing of polytene chromosomes in nurse cells. Unpairing is significantly increased if the animals are also heterozygous for either slmbUU11 or slmb3A1.

A gluk08819 heterozygous background lead to a substantial decrease in fertility for Cap-H2Z3-5163/Cap-H2Z3-0019 mutants.

While 30.4% of anaphase I figures from Cap-H2Z3-0019/Cap-H2TH1 males are bridged, bridging is found within only 10.8% of anaphase I figures in a heterozygous tefZ5549/tefZ5864 background. In squashed preparations anaphase I bridging is decreased from 40.5% in Cap-H2Z3-0019/Cap-H2TH1 males to 25.6% in a heterozygous tefZ5549/tefZ5864 background. The percent of anaphase I figures where homozygous chromosomes appear to be bridged decreases from 21.4 in Cap-H2Z3-0019/Cap-H2TH1 mutants to 9.3% in a heterozygous tefZ5549/tefZ5864 background. Fourth chromosomes-to-heterolog threads are greatly suppressed in a heterozygous tefZ5549/tefZ5864 background.

The severity of the Ubx1:Cbx-1/+ wing phenotype is dominantly enhanced by Cap-H2Z3-0019; the proportion of flies that show blistering or necrosis of the wing is increased.

The severity of the T(2;3)BTD71/+ wing phenotype is dominantly enhanced by Cap-H2Z3-0019; the proportion of flies that show withering at the posterior of the wing is increased.

The persistence of polyteny that is seen in the nurse cells of stage 10 egg chambers of Cap-D3EY00456/Df(2L)Exel7023 females is enhanced by Cap-H2Z3-0019/+; the penetrance of the phenotype is enhanced from 91.3 +/- 2.3% to 100%.

77.3 +/- 9.1% of the nurse cells in stage 10 egg chambers of gluk08819/+ ; Cap-H2Z3-0019/+ double heterozygous females show persistence of polyteny, with the chromosomes having a loosened, but clear, polytene morphology.

Body colour: The reduced body pigmentation seen in y1#8/y82f29 flies is partially suppressed by Cap-H2Z3-0019/Df(3R)Exel6159.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Fails to complement
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (6)