FlyBase Allele Report: Dmel\ball[2]

General Information

Symbol

Dmel\ball²

Species

D. melanogaster

Name

FlyBase ID

FBal0299570

Feature type

allele

Associated gene

Dmel\ball

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

loss of function allele

Mutagen

P-element activity

Nature of the Allele

Allele class

loss of function allele

(Herzig et al., 2014)

Mutagen

P-element activity

(Herzig et al., 2014, Yakulov et al., 2014)

Progenitor genotype

P{EP}ball^EP863

(Herzig et al., 2014, Yakulov et al., 2014)

Cytology

Description

Imprecise excision of the progenitor P{EP}ball^EP863 insertion.

(Herzig et al., 2014)

Imprecise excision of the progenitor P{EP}ball^EP863 insertion, resulting in a deletion that removes the ball translation start codon and part of the kinase domain coding sequence.

(Yakulov et al., 2014)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 ( 1 )

Disease

Interaction

References

ameliorates primary autosomal recessive microcephaly 16

modeled by Ankle2^A

(Link et al., 2019)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | larval stage

(Yakulov et al., 2014)

abnormal neuroanatomy | larval stage | somatic clone

(Yakulov et al., 2014)

decreased cell number | larval stage

(Herzig et al., 2014)

decreased occurrence of cell division | larval stage | somatic clone

(Yakulov et al., 2014)

lethal - all die during pupal stage

(Herzig et al., 2014)

Phenotype Manifest In

Detailed Description

Statement

Reference

ball² heterozygotes are viable.

(Link et al., 2019)

Homozygotes show severe morphological defects by the end of larval development, including considerably reduced gonads (in both sexes), a lack of imaginal discs and severely reduced brains.

The number of primordial germ cells in homozygous embryonic gonads is not significantly different from wild type.

Homozygous testes contain fewer germline cells than normal at the mid-larval stage, but differentiating germline cysts are seen. The number of germline stem cells (GSCs) that contact the stem cell niche is reduced. At late larval stages, GSCs are not detectable in the mutant testes, although differentiated cysts are still seen.

Primordial germ cells (PGCs) appear to differentiate prematurely in homozygous larval ovaries: at the mid-larval stage fused structures resembling fusomes are seen and the ovaries contain fewer PGCs than in wild type. The reduction in the number of PGCs at the mid-larval stage is not due to an increase in apoptosis, but at late larval stages, massive apoptosis (which is largely restricted to germline cells) is seen in the mutant ovaries.

Homozygous germline clones in adult females can differentiate into mature eggs. However, egg deposition is not sustained in females carrying these germline clones.

Homozygous GSCs in adult ovaries and adult testes are almost eliminated 4 days after clone induction (in contrast to controls). This is due to a failure of the mutant GSCs to self-renew.

Homozygous follicle cells in mosaic adult ovaries proliferate at the same rate as control clones. However, mutant follicle cells are not detected 10 days after clone induction (in contrast to control clones), indicating a lack of mutant follicle stem cells (FSCs) at this time. This failure to maintain the mutant FSCs may be due to cell death, lack of cell proliferation or dislocation from the niche followed by differentiation.

(Herzig et al., 2014)

Homozygous embryos have no defects in their nervous system (based on 22C10 antibody staining) and hatch at 98% of expected frequency.

Homozygous larvae have severely reduced brains.

Homozygous thoracic postembryonic neuroblasts (pNBs) in MARCM clones in the larval ventral ganglion are able to generate cell lineages, including ganglion mother cells and differentiating neurons. However, the mutant pNBs proliferate at a reduced rate compared to wild type. Analysis of neuroblast marker expression suggests that the mutant pNBs differentiate prematurely between 73 and 96 hours ALH.

(Yakulov et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

ball[+]/ball² is a suppressor of lethal - all die before end of pupal stage | temperature conditional phenotype of Ankle2^A

(Link et al., 2019)

ball² is a suppressor of neoplasia | female | germline clone phenotype of bam^Δ86

(Herzig et al., 2014)

NOT Suppressor of

Statement

Reference

ball[+]/ball² is a non-suppressor of lethal - all die before end of larval stage phenotype of Ankle2^CRIMIC

(Link et al., 2019)

Phenotype Manifest In

Other

Statement

Reference

ball², bam^Δ86 has female germline stem cell | germline clone phenotype

(Herzig et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

ball² bam^Δ86 double mutant germline cells in the ovary do not form tumours. The double mutant cells are lost from the stem cell niche, with the rate of stem cell loss being similar to that seen in ball² single mutants. Double mutant germline cells that have been displaced from the niche do not differentiate into germline cysts and they eventually degenerate.

Expression of bam^hs.PO does not fully suppress the apoptosis of mutant germline cells which is seen in ball² larval ovaries.

(Herzig et al., 2014)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

ball² is rescued by Scer\GAL4^nanos.PG/ball^UASp.EGFP

(Herzig et al., 2014)

ball² is rescued by ball^UASp.EGFP/Scer\GAL4^Tub.PU

(Yakulov et al., 2014)

Comments

Expression of ball^{Scer\UAS.P\T.T:Avic\GFP-EGFP} under the control of Scer\GAL4^nos.PG restores the ability of homozygous ball² germline clones to sustain continuous egg production.

(Herzig et al., 2014)

Expression of ball^{Scer\UAS.P\T.T:Avic\GFP-EGFP} under the control of Scer\GAL4^tub.PU rescues the reduced number of neurons produced by ball² MARCM clones in the larval ventral ganglion.

(Yakulov et al., 2014)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

ball²

(Mendaluk et al., 2023, Link et al., 2019, Herzig et al., 2014, Yakulov et al., 2014)

Name Synonyms

Secondary FlyBase IDs

References (4)

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