FlyBase Allele Report: Dmel\Ankle2[A]

General Information

Symbol

Dmel\Ankle2^A

Species

D. melanogaster

Name

FlyBase ID

FBal0302965

Feature type

allele

Associated gene

Dmel\Ankle2

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Yamamoto et al., 2014)

Progenitor genotype

Cytology

Description

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 ( 1 )

Disease

Evidence

References

model of microcephaly

CEA

(Yamamoto et al., 2014)

model of primary autosomal recessive microcephaly 16

CEA with Hsap\ANKLE2^{V229G.UAS.Tag:FLAG}

(Thomas et al., 2022)

CEA with Hsap\ANKLE2^{R236X.UAS.Tag:FLAG}

(Thomas et al., 2022)

CEA with Hsap\ANKLE2^{R536C.UAS.Tag:FLAG}

(Thomas et al., 2022)

CEA with Hsap\ANKLE2^{G510X.UAS.Tag:FLAG}

(Thomas et al., 2022)

CEA

(Link et al., 2019)

CEA with Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}

(Link et al., 2019)

CEA with Hsap\ANKLE2^{Q782X.UAS.Tag:FLAG}

(Link et al., 2019)

CEA with Hsap\ANKLE2^{A109P.UAS.Tag:FLAG}

(Link et al., 2019)

CEA with Hsap\ANKLE2^{G201W.UAS.Tag:FLAG}

(Link et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates microcephaly

modeled by ZIKV\NS4A^{UAS.Tag:StrepII}

(Shah et al., 2018)

model of primary autosomal recessive microcephaly 16

is ameliorated by ball²

(Link et al., 2019)

is ameliorated by ball^E107

(Link et al., 2019)

is ameliorated by l(2)gl^ts3

(Link et al., 2019)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal feeding behavior | third instar larval stage

(Link et al., 2019)

abnormal mitotic cell cycle

(Link et al., 2019)

abnormal neuroanatomy | somatic clone

(Yamamoto et al., 2014)

abnormal neuroanatomy | third instar larval stage

(Link et al., 2019, Yamamoto et al., 2014)

abnormal size | third instar larval stage

(Link et al., 2019)

decreased occurrence of cell division | larval stage | somatic clone

(Yamamoto et al., 2014)

decreased size | larval stage

(Thomas et al., 2022)

increased cell death | third instar larval stage

(Yamamoto et al., 2014)

lethal | recessive

(Yamamoto et al., 2014)

lethal - all die before end of pupal stage (with Ankle2^CRIMIC)

(Link et al., 2019)

lethal - all die before end of pupal stage (with Ankle2^IGFP)

(Link et al., 2019)

lethal - all die before end of pupal stage | temperature conditional

(Link et al., 2019)

Phenotype Manifest In

Detailed Description

Statement

Reference

Ankle2^A mutants are viable at 18[o]C, but pupal lethal at higher temperatures (25[o]C and 29[o]C.

Third instar larvae eat significantly less than controls; their brain is significantly smaller than controls. Neuroblasts show disrupt ER (Sec61b / Calnexin 99a) and nuclear envelope structure (Lamin Dm0). Mitotic neuroblasts frequently show supernumerary centrosomes, frequent mis-positioning of polarity (Baz and Par-6) and cell determinant (Miranda) proteins (also observed in Ankle2^A/Ankle2^CRIMIC transheterozygotes), some spindle misalignment, and failed division, including DNA segregation defects, chromatin bridges, and cytokinesis defects.

First instar larvae do not show significant changes in the number of Dpn-positive cells in the brain;

(Link et al., 2019)

Homozygous clones in the thorax result in sensory organ defects: the number of cells is reduced to two and no differentiated neuron is present. Homozygous clones in the brain show reduced BrdU incorporation compared to controls.

Brain size in homozygous larvae is similar to that of controls at the early third instar stage. However, later in the third instar stage the brain becomes progressively smaller than in control larvae, with the number of neuroblasts being severely reduced in mutant late third instar larvae. Spindle orientation during mitosis and centriole duplication appear unaffected in the small number of mutant neuroblasts present. A dramatic increase in apoptotic cell death is seen in the mutant brains compared to wild type.

(Yamamoto et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Ankle2^A has decreased size | larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^UAS.Tag:FLAG

(Thomas et al., 2022)

Ankle2^A has abnormal size | third instar larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^UAS.Tag:FLAG

(Link et al., 2019)

Ankle2^A has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^UAS.Tag:FLAG

(Link et al., 2019)

Ankle2^A has lethal - all die before end of pupal stage | temperature conditional phenotype, suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^UAS.Tag:FLAG

(Link et al., 2019)

Ankle2^A has abnormal size | third instar larval stage phenotype, suppressible by Scer\GAL4^insc-Mz1407/Hsap\ANKLE2^UAS.Tag:FLAG

(Link et al., 2019)

Ankle2^A has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Scer\GAL4^insc-Mz1407/Hsap\ANKLE2^UAS.Tag:FLAG

(Link et al., 2019)

Ankle2^A has lethal - all die before end of pupal stage | temperature conditional phenotype, suppressible by Scer\GAL4^insc-Mz1407/Hsap\ANKLE2^UAS.Tag:FLAG

(Link et al., 2019)

Ankle2^A has abnormal size | third instar larval stage phenotype, suppressible | partially by Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has increased mortality during development | temperature conditional phenotype, suppressible | partially by Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has lethal - all die before end of pupal stage | temperature conditional phenotype, suppressible by ball[+]/ball^E107

(Link et al., 2019)

Ankle2^A has lethal - all die before end of pupal stage | temperature conditional phenotype, suppressible by ball[+]/ball²

(Link et al., 2019)

Ankle2^A has abnormal size | third instar larval stage phenotype, suppressible by ball[+]/ball^E107

(Link et al., 2019)

Ankle2^A has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by ball[+]/ball^E107

(Link et al., 2019)

Ankle2^A has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by l(2)gl^ts3/l(2)gl[+]

(Link et al., 2019)

Ankle2^A has increased mortality during development | temperature conditional phenotype, suppressible | partially by l(2)gl^ts3/l(2)gl[+]

(Link et al., 2019)

Ankle2^A has lethal | recessive phenotype, suppressible by Scer\GAL4^unspecified/Hsap\ANKLE2^UAS.Tag:FLAG

(Yamamoto et al., 2014)

Ankle2^A has increased cell death | third instar larval stage phenotype, suppressible by Scer\GAL4^unspecified/Hsap\ANKLE2^UAS.Tag:FLAG

(Yamamoto et al., 2014)

NOT suppressed by

Statement

Reference

Ankle2^A has decreased size | larval stage phenotype, non-suppressible by Hsap\ANKLE2^{G510X.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Thomas et al., 2022)

Ankle2^A has decreased size | larval stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^{R236X.UAS.Tag:FLAG}

(Thomas et al., 2022)

Ankle2^A has decreased size | larval stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^{R536C.UAS.Tag:FLAG}

(Thomas et al., 2022)

Ankle2^A has decreased size | larval stage phenotype, non-suppressible by Hsap\ANKLE2^{V229G.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Thomas et al., 2022)

Ankle2^A has abnormal size | third instar larval stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^{A109P.UAS.Tag:FLAG}

(Link et al., 2019)

Ankle2^A has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^{A109P.UAS.Tag:FLAG}

(Link et al., 2019)

Ankle2^A has lethal - all die before end of pupal stage | temperature conditional phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^{A109P.UAS.Tag:FLAG}

(Link et al., 2019)

Ankle2^A has abnormal size | third instar larval stage phenotype, non-suppressible by Hsap\ANKLE2^{G201W.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has abnormal size | third instar larval stage phenotype, non-suppressible by Hsap\ANKLE2^{Q782X.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Hsap\ANKLE2^{G201W.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Hsap\ANKLE2^{Q782X.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has lethal - all die before end of pupal stage | temperature conditional phenotype, non-suppressible by Hsap\ANKLE2^{Q782X.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has lethal - all die before end of pupal stage | temperature conditional phenotype, non-suppressible by Hsap\ANKLE2^{G201W.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Other

Statement

Reference

Ankle2^A, l(2)gl^ts3/l(2)gl[+] has partially lethal - majority die phenotype

(Link et al., 2019)

Ankle2^A, l(2)gl^ts3/l(2)gl[+] has short lived phenotype

(Link et al., 2019)

Phenotype Manifest In

Suppressed by

Statement

Reference

Ankle2^A has larval brain | larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^UAS.Tag:FLAG

(Thomas et al., 2022)

Ankle2^A has larval brain | third instar larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^UAS.Tag:FLAG

(Link et al., 2019)

Ankle2^A has larval brain | third instar larval stage phenotype, suppressible by Scer\GAL4^insc-Mz1407/Hsap\ANKLE2^UAS.Tag:FLAG

(Link et al., 2019)

Ankle2^A has larval brain | third instar larval stage phenotype, suppressible | partially by Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has larval brain | third instar larval stage phenotype, suppressible by ball[+]/ball^E107

(Link et al., 2019)

Ankle2^A has larval neuroblast | third instar larval stage phenotype, suppressible by ball[+]/ball^E107

(Link et al., 2019)

Ankle2^A has larval brain | third instar larval stage phenotype, suppressible | partially by l(2)gl^ts3/l(2)gl[+]

(Link et al., 2019)

Ankle2^A has larval brain | third instar larval stage phenotype, suppressible by Scer\GAL4^unspecified/Hsap\ANKLE2^UAS.Tag:FLAG

(Yamamoto et al., 2014)

NOT suppressed by

Statement

Reference

Ankle2^A has larval brain | larval stage phenotype, non-suppressible by Hsap\ANKLE2^{G510X.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Thomas et al., 2022)

Ankle2^A has larval brain | larval stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^{R236X.UAS.Tag:FLAG}

(Thomas et al., 2022)

Ankle2^A has larval brain | larval stage phenotype, non-suppressible by Hsap\ANKLE2^{V229G.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Thomas et al., 2022)

Ankle2^A has larval brain | larval stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^{R536C.UAS.Tag:FLAG}

(Thomas et al., 2022)

Ankle2^A has larval brain | third instar larval stage phenotype, non-suppressible by Hsap\ANKLE2^{Q782X.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has larval brain | third instar larval stage phenotype, non-suppressible by Hsap\ANKLE2^{G201W.UAS.Tag:FLAG}/Scer\GAL4^da.G32

(Link et al., 2019)

Ankle2^A has larval brain | third instar larval stage phenotype, non-suppressible by Scer\GAL4^da.G32/Hsap\ANKLE2^{A109P.UAS.Tag:FLAG}

(Link et al., 2019)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Ubiquitous expression of Hsap\ANKLE2^{Scer\UAS.T:Zzzz\FLAG} rescues the recessive lethality caused by Ankle2^A and rescues the brain phenotypes (small size and increased cell death) in third instar Ankle2^A larvae.

(Yamamoto et al., 2014)

Complementation and Rescue Data

Rescued by

Ankle2^A is rescued by Ankle2^GFPR

(Link et al., 2019)

Ankle2^CRIMIC/Ankle2^A is rescued by Ankle2^GFPR

(Link et al., 2019)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Ankle2^A

(Thomas et al., 2022, Link et al., 2019, Shah et al., 2018)

dAnkle2^A

(Yamamoto et al., 2014)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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