FlyBase Allele Report: Dmel\sau[Z2217]

General Information

Symbol

Dmel\sau^Z2217

Species

D. melanogaster

Name

FlyBase ID

FBal0178119

Feature type

allele

Associated gene

Dmel\sau

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

(Sechi et al., 2014, Giansanti et al., 2004)

Progenitor genotype

Cytology

Description

Amino acid replacement: E273K.

(Sechi et al., 2014)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:2,230,058..2,230,058 [+]

Nucleotide change:

G2230058A

Amino acid change:

E273K | sau-PA; E273K | sau-PD; E273K | sau-PE

Reported amino acid change:

E273K

Comment:

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

(Sechi et al., 2014)

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 cytokinesis | male | recessive

(Giansanti et al., 2004)

abnormal meiotic cell cycle | male (with Df(2L)Exel6007)

(Sechi et al., 2014)

abnormal meiotic cell cycle | male (with Df(2L)Exel7010)

(Sechi et al., 2014)

abnormal meiotic cell cycle | male (with sau^s5379)

(Sechi et al., 2014)

abnormal meiotic cell cycle | male | recessive

(Giansanti et al., 2004)

abnormal mitotic cell cycle | male | recessive

(Giansanti et al., 2004)

male sterile (with Df(2L)Exel6007)

(Sechi et al., 2014)

male sterile (with Df(2L)Exel7010)

(Sechi et al., 2014)

male sterile (with sau^s5379)

(Sechi et al., 2014)

paralytic | adult stage | dominant | heat sensitive

(Frappaolo et al., 2017)

short lived (with Df(2L)Exel7010)

(Sechi et al., 2014)

viable

(Frappaolo et al., 2017)

Phenotype Manifest In

actomyosin contractile ring (with Df(2L)Exel7010)

(Sechi et al., 2014)

contractile ring & meiotic cell cycle | male

(Giansanti et al., 2004)

Golgi apparatus (with Df(2L)Exel7010)

(Sechi et al., 2014)

microtubule (with Df(2L)Exel7010)

(Sechi et al., 2014)

Nebenkern

(Giansanti et al., 2004)

nucleus | spermatogenesis (with Df(2L)Exel7010)

(Frappaolo et al., 2017)

onion stage spermatid (with Df(2L)Exel7010)

(Sechi et al., 2014)

onion stage spermatid (with sau^s5379)

(Sechi et al., 2014)

primary spermatocyte (with Df(2L)Exel7010)

(Sechi et al., 2014)

spermatid (with Df(2L)Exel7010)

(Frappaolo et al., 2017)

spermatid & nucleus | supernumerary

(Giansanti et al., 2004)

spindle (with Df(2L)Exel7010)

(Sechi et al., 2014)

spindle & meiotic cell cycle | male

(Giansanti et al., 2004)

Detailed Description

Statement

Reference

sau^Z2217 homozygous adults present heat sensitive paralysis (38[o]C), unlike heterozygotes and wild-type controls. These mutants exhibit normal wing posture.

Most spermatids in sau^Z2217/Df(2L)Exel7010 males testes are multinucleate, indicating cytokinesis failure.

(Frappaolo et al., 2017)

sau^Z2217/Df(2L)Exel7010 transheterozygotes are short lived compared to controls.

(Sechi et al., 2014)

The majority of sau^Z2217 mutant spermatids have one large nebenkern with four nuclei of normal size, indicating a cytokinetic failure in both meiotic divisions. A very small proportion (<1%) have two nuclei and a large nebenkern, indicating failure of only one of the meiotic divisions. An equally small proportion have three nuclei, indicating failure of cytokinesis in the first meiotic division, followed by budding off of only one daughter cell in the second meiotic division. A proportion of spermatids (<3%) have over four nuclei, which may result from defects in the mitotic divisions preceding mitosis. Spermatocytes of sau^Z2217 mutants lack an organized central spindle and an F-actin ring throughout ana-telophase. The equatorial anillin band is present but fails to constrict properly.

(Giansanti et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

sau^Z2217/sau[+] is an enhancer of paralytic | adult stage | heat sensitive phenotype of Cog7^z-4495/Cog7^z-5797

(Frappaolo et al., 2017)

Other