FlyBase Allele Report: Dmel\tef[Z5864]

General Information

Symbol

Dmel\tef^Z5864

Species

D. melanogaster

Name

FlyBase ID

FBal0120309

Feature type

allele

Associated gene

Dmel\tef

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Arya et al., 2006, Wakimoto et al., 2004, Tomkiel et al., 2001)

Progenitor genotype

Cytology

Description

Amino acid replacement: C38Y.

(Arya et al., 2006)

Nucleotide substitution: G113A.

(Arya et al., 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:17,056,620..17,056,620 [-]

Nucleotide change:

G17056620A

Reported nucleotide change:

G113A

Amino acid change:

C38Y | tef-PA

Reported amino acid change:

C38Y

(Arya et al., 2006)

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 | male | recessive

(Tomkiel et al., 2001)

male fertile

(Wakimoto et al., 2004)

viable

(Tomkiel et al., 2001)

Phenotype Manifest In

meiosis I

(Tomkiel et al., 2001)

spermatocyte

(Arya et al., 2006)

Detailed Description

Statement

Reference

tef^Z5864/Df(2R)P803-Δ15 males show a high level (39.7%) of fourth chromosome non-disjunction.

tef^Z5864/tef^k15914 males show a low level (4.3%) of fourth chromosome non-disjunction.

Homozygous males show a cytological defect in late prophase (S6) spermatocytes; separation of autosomal homologs is seen.

(Arya et al., 2006)

Homozygous males are fertile, but their progeny show paternal chromosome loss (loss rate of paternal chromosome 4 is 7%). The timing of the chromosome loss is meiotic.

(Wakimoto et al., 2004)

Wild-type frequencies of sex and 4th chromosome nondisjunction are seen in homozygous females. Homozygous males show no increase in sex chromosome nondisjunction or loss compared to wild type. They show increased 4th chromosome nondisjunction compared to wild type. Nondisjunction of chromosomes 2 and 3 is also seen. The frequency of 4th chromosome nondisjunction or loss does not increase with age. The defect appears to be specific to meiosis I. The transmission of the Dp(1;f)1187 chromosome is unaffected in mutant males. Transmission of the C(4)RM chromosome is similar in mutant males and controls. In homozygous males, the homologues of either one or both of the autosomal bivalents are separate in 10% of S6 stage meiocytes (this phenotype is not seen in wild-type males). Unpaired autosomes are frequently seen in homozygous meiocytes, often at or near the spindle poles, whereas the sex bivalent is intact and often positioned medially between the poles. The precocious separation of the 4th chromosome bivalent appears exaggerated in mutant cells, as the 4th chromosomes often reach the spindle poles before the sex chromosomes have visibly separated. No defects in meiotic spindles are seen in mutant males. The chromosomes are dispersed along the pole-to-pole axis in stage M2 and M3. Autosomal bivalents with an unusual dumbbell-like shape or separated by a slight gap are seen, suggesting that they are not as tightly associated as in wild type. These bivalents are also often displaced from the metaphase plate. The sex chromosomes are closely apposed in a configuration not discernibly different from wild type.

(Tomkiel et al., 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressor of

Statement

Reference

tef^Z5549/tef^Z5864 is a suppressor of primary spermatocyte in meiotic anaphase I phenotype of Cap-H2^Z3-0019/Cap-H2^TH1

(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.

(Hartl et al., 2008)

The frequency of sex chromosome nondisjunction seen in males carrying Dp(2;Y)cb25-1, T(1;4)mscd1 or T(1;4)mscd2 is reduced if they are also homozygous for tef^Z5864.

(Tomkiel et al., 2001)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

tef^k15914

(Arya et al., 2006)

tef^Z1869

(Tomkiel et al., 2001)

tef^Z4169

(Tomkiel et al., 2001)