FlyBase Allele Report: Dmel\SAK[c06612]

General Information

Symbol

Dmel\SAK^c06612

Species

D. melanogaster

Name

FlyBase ID

FBal0159857

Feature type

allele

Associated gene

Dmel\SAK

Associated Insertion(s)

PBac{PB}SAK^c06612

Carried in Construct

Also Known As

plk4^c06612

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

piggyBac activity

Nature of the Allele

Allele class

Mutagen

piggyBac activity

(Bloomington Drosophila Stock Center, 2004.11.6)

Progenitor genotype

Associated Insertion(s)

PBac{PB}SAK^c06612

Cytology

Description

Allele components

Component

Use(s)

Also carries

FRT

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

transposable_element_insertion_site

3L:21,513,568..21,513,568 [-]

(Rodrigues-Martins et al., 2008, Bettencourt-Dias et al., 2005, Bettencourt-Dias et al., 2005, Bloomington Drosophila Stock Center, 2004.11.6)

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 developmental rate (with Df(3L)Pc-2q)

(Bettencourt-Dias et al., 2005)

abnormal meiotic cell cycle

(Rodrigues-Martins et al., 2008)

abnormal mitotic cell cycle

(Rodrigues-Martins et al., 2008)

lethal (with Df(3L)Pc-2q)

(Bettencourt-Dias et al., 2005)

lethal - all die during embryonic stage

(Rodrigues-Martins et al., 2008)

male sterile

(Bettencourt-Dias et al., 2005)

partially lethal

(Bettencourt-Dias et al., 2005)

some die during embryonic stage

(Rodrigues-Martins et al., 2008)

some die during immature adult stage | recessive

(Bettencourt-Dias et al., 2005)

some die during immature adult stage | recessive (with Df(3L)Pc-2q)

(Bettencourt-Dias et al., 2005)

sterile

(Bettencourt-Dias et al., 2005)

sterile (with Df(3L)Pc-2q)

(Bettencourt-Dias et al., 2005)

uncoordinated | adult stage

(Aydogan et al., 2018)

uncoordinated | adult stage (with Df(3L)Pc-2q)

(Aydogan et al., 2018, Bettencourt-Dias et al., 2005)

Phenotype Manifest In

astral microtubule & primary spermatocyte

(Bettencourt-Dias et al., 2005)

centriole

(Blachon et al., 2009, Rodrigues-Martins et al., 2008)

centriole & larval brain

(Bettencourt-Dias et al., 2005)

centriole & primary spermatocyte

(Bettencourt-Dias et al., 2005)

centriole | third instar larval stage

(Aydogan et al., 2018)

centrosome

(Bettencourt-Dias et al., 2005)

centrosome & larval brain

(Bettencourt-Dias et al., 2005)

centrosome & primary spermatocyte

(Bettencourt-Dias et al., 2005)

embryo

(Rodrigues-Martins et al., 2008)

embryonic/larval brain | third instar larval stage

(Aydogan et al., 2018)

primary spermatocyte

(Rodrigues-Martins et al., 2008)

spermatid

(Blachon et al., 2009, Bettencourt-Dias et al., 2005)

spermatid axoneme

(Bettencourt-Dias et al., 2005)

spermatocyte

(Blachon et al., 2009)

spermatozoon

(Bettencourt-Dias et al., 2005)

spindle

(Rodrigues-Martins et al., 2008)

spindle & larval brain

(Bettencourt-Dias et al., 2005)

spindle & primary spermatocyte

(Bettencourt-Dias et al., 2005)

Detailed Description

Statement

Reference

SAK^c06612 homozygous adults exhibit a normal body posture and walk in a partially uncoordinated manner when compared to controls.

SAK^c06612 homozygous third instar larval brains exhibit reduced centriole numbers when compared to controls.

(Aydogan et al., 2018)

Centrioles in the adult male germline stem cells of SAK^c06612/Df(3L)Pc-2q flies are of normal length compared to controls.

(Galletta et al., 2016)

Mutants have a reduced number of centrioles in spermatocytes and reduced proximal centriole-like formation in spermatids.

(Blachon et al., 2009)

68% of SAK^c06612 mutant primary spermatocytes do not have centrioles. All of the acentriolar spindles analysed are abnormal and these abnormal spindles result in dramatic chromosome segregation defects. Spermatids from SAK^c06612 mutants frequently have multiple nuclei of differing sizes indicative of unequal partitioning of chromosomes in meiosis.

Embryos derived from homozygous SAK^c06612 mutant mothers contain very few spindles, with a maximum of 16 spindles compared to up to 8000 in wild type. These spindles are abnormally shaped with broad poles lacking centrioles. Free asters are also observed in 57% of SAK^c06612 mutant embryos, and these contain only one centriole, compared to the two centrioles seen at wild type spindle poles. All mutant embryos become arrested in mitosis and fail to develop.

(Rodrigues-Martins et al., 2008)

SAK^c06612/Df(3L)Pc-2q mutants pupate 1 day later than SAK^c06612/+ or Df(3L)Pc-2q/+ heterozygotes. Although all SAK^c06612/Df(3L)Pc-2q flies eclose, the majority of adults are uncoordinated and die after getting stuck in food. 75% of SAK^c06612 homozygotes survive after eclosion. The brains of SAK^c06612 flies show centrosome defects in mitotic cells; this effect is greater in hemizygous flies.

(Bettencourt-Dias et al., 2005)

Mitotic cells in larval brains of SAK^c06612 flies can lack centrosomes and show both focused and splayed poles. These cells often have two, one, or zero centrosomes and lack centrioles. The brains of mutant larvae are of normal size and the proportion of brain cells in mitosis is similar to wild-type brains, indicating no obvious defects in cell-cycle progression. A high proportion of SAK^c06612 primary spermatocytes have no centrioles at one or both spindles in meiosis I. When centrioles are absent, the spindle poles are broad. There are either no astral microtubules, or disorganized spindles are formed. SAK^c06612 mutants lose their centrioles during the mitotic divisions preceding male meiosis but still produce cysts of 16 primary spermatocytes as in the wild type. The absence of centrioles prevents the mutant spermatids from making sperm axonemes. Cells that have no axonemes have irregular size and numbers of mitochondrial derivatives per cell. The majority of sperm from SAK^c06612 mutant testes are nonmotile, leading to male sterility. Mathematical modeling of the stereotyped cell divisions of spermatogenesis can account for centriole loss by defective centriole duplication.

(Bettencourt-Dias et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhancer of

Statement

Reference

SAK^c06612/Df(3L)Pc-2q is an enhancer of male germline stem cell phenotype of Cep97^LL01167/Df(2L)A1.G

(Galletta et al., 2016)

SAK^c06612/Df(3L)Pc-2q is an enhancer of centriole | adult stage phenotype of Cep97^LL01167/Df(2L)A1.G

(Galletta et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

The long centriole phenotype observed in some male germline stem cells of Cep97^LL01167/Df(2L)A1.G adults is strongly enhanced by combination with SAK^c06612/Df(3L)Pc-2q, which results in blocking of centrosome duplication and thus all centrioles remaining are 'remnant' centrioles (originally built from maternally deposited protein and inherited by the developing tissues). Almost all of these remnant centrioles are significantly longer than in controls.

(Galletta et al., 2016)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

17774

w¹¹¹⁸; PBac{PB}SAK^c06612/TM6B, Tb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

Plk4^Mut

(Gambarotto et al., 2019)

Plk4^c06612

(Aydogan et al., 2018)

SAK^c06612

Sak^c06612

(Gambarotto et al., 2019)

plk4^c06612

(Galletta et al., 2016, Khire et al., 2015, Blachon et al., 2009)

Name Synonyms

Secondary FlyBase IDs

References (11)

Report Sections

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