FlyBase Allele Report: Dmel\Cap-H2[TH1]

General Information

Symbol

Dmel\Cap-H2^TH1

Species

D. melanogaster

Name

FlyBase ID

FBal0219644

Feature type

allele

Associated gene

Dmel\Cap-H2

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

GT to GC alteration in the splice acceptor site of the first intron.

(Hartl et al., 2008)

Nucleotide substitution: T?C.

(Hartl et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:10,761,618..10,761,618 [+]

Nucleotide change:

T10761618C

Reported nucleotide change:

T?C

Comment:

GT to GC alteration in the splice acceptor site of the first intron.

(Hartl et al., 2008)

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 meiotic cell cycle (with Cap-H2^Z3-5163)

(Hartl et al., 2008)

fertile (with Cap-H2^Z3-5163)

(Hartl et al., 2008)

male sterile (with Cap-H2^Z3-0019)

(Hartl et al., 2008)

male sterile (with Cap-H2^Z3-5163)

(Hartl et al., 2008)

male sterile (with Df(3R)Exel6159)

(Hartl et al., 2008)

Phenotype Manifest In

primary spermatocyte in meiotic anaphase I (with Cap-H2^Z3-0019)

(Hartl et al., 2008)

primary spermatocyte in meiotic prophase I (with Cap-H2^Z3-0019)

(Hartl et al., 2008)

Detailed Description

Statement

Reference

Cap-H2^TH1/Df(3R)Exel6159 and Cap-H2^Z3-0019/Cap-H2^TH1 transheterozygous males are sterile.

In male sterile mutants of the genotype Cap-H2^Z3-0019/Cap-H2^TH1, 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.

M1 of meiosis I may be morphologically abnormal in Cap-H2^Z3-0019/Cap-H2^TH1 mutants. Despite not forming normal chromosome territories and possibly never reaching normal M1 chromosomal structure, there are no unusual features detected in Cap-H2^Z3-0019/Cap-H2^TH1 male sterile metaphase I figures. Anaphase I is clearly not normal in Cap-H2^Z3-0019/Cap-H2^TH1 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-H2^Z3-0019/Cap-H2^TH1 males, 11.5% for Cap-H2^Z3-0019/Cap-H2^TH1 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-H2^Z3-0019/Cap-H2^TH1 mutant males. Of the total anaphase I figures from Cap-H2^Z3-0019/Cap-H2^TH1 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.

(Hartl et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Cap-H2[+]/Cap-H2^TH1 is an enhancer of visible | dominant phenotype of Ubx^1:Cbx-1

(Hartl et al., 2008)

Phenotype Manifest In

Suppressed by

Statement

Reference

Cap-H2^Z3-0019/Cap-H2^TH1 has primary spermatocyte in meiotic anaphase I phenotype, suppressible by tef^Z5549/tef^Z5864

(Hartl et al., 2008)

Enhancer of

Statement

Reference

Cap-H2[+]/Cap-H2^TH1 is an enhancer of wing phenotype of Ubx^1:Cbx-1

(Hartl et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

While 30.4% of anaphase I figures from Cap-H2^Z3-0019/Cap-H2^TH1 males are bridged, bridging is found within only 10.8% of anaphase I figures in a heterozygous tef^Z5549/tef^Z5864 background. In squashed preparations anaphase I bridging is decreased from 40.5% in Cap-H2^Z3-0019/Cap-H2^TH1 males to 25.6% in a heterozygous tef^Z5549/tef^Z5864 background. The percent of anaphase I figures where homozygous chromosomes appear to be bridged decreases from 21.4 in Cap-H2^Z3-0019/Cap-H2^TH1 mutants to 9.3% in a heterozygous tef^Z5549/tef^Z5864 background. Fourth chromosomes-to-heterolog threads are greatly suppressed in a heterozygous tef^Z5549/tef^Z5864 background.

(Hartl et al., 2008)

The severity of the Ubx^1:Cbx-1/+ wing phenotype is dominantly enhanced by Cap-H2^TH1; 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-H2^TH1; the proportion of flies that show withering at the posterior of the wing is increased.

(Hartl et al., 2008)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

2608

Df(3L)W10, ru¹ hry¹ Cap-H2^TH1 Sb^sbd-2/TM6B, Tb¹

Notes on Origin

Discoverer

Separable from: Df(3L)W10.

(Hartl et al., 2008)

The Cap-H2^TH1 mutation was found on the Df(3L)W10 chromosome.

(Hartl et al., 2008)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Cap-H2^TH1

(Hartl et al., 2008, Hartl et al., 2008)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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