FlyBase Allele Report: Hsap\ANKLE2[L573V.UAS.Tag:FLAG]

General Information

Symbol

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

Species

H. sapiens

Name

FlyBase ID

FBal0358506

Feature type

allele

Associated gene

Hsap\ANKLE2

Associated Insertion(s)

Carried in Construct

PBac{UAS-hANKLE2.L573V.FLAG}

Key Links

Transgenic product class

missense_variant

(Link et al., 2019)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Link et al., 2019)

Mutagen

in vitro construct

(Link et al., 2019)

Progenitor genotype

Carried in construct

PBac{UAS-hANKLE2.L573V.FLAG}

Cytology

Description

UASt regulatory sequences drive expression of a Hsap\ANKLE2 cDNA that has been mutated to carry the L573V amino acid substitution (a microcephaly-associated mutation). The coding sequence is tagged with Tag:FLAG.

(Link et al., 2019)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\ANKLE2

Tagged with

Tag:FLAG

epitope tag

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 primary autosomal recessive microcephaly 16

CEA with Ankle2^A

(Link et al., 2019)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Link et al., 2019)

ANKLE2:p.Leu573Val

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

microcephaly 16, primary, autosomal recessive

External database links

ClinVar: ANKLE2_218246

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}/Scer\GAL4^da.G32 is a suppressor | partially of abnormal size | third instar larval stage phenotype of Ankle2^A

(Link et al., 2019)

Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}/Scer\GAL4^da.G32 is a suppressor | partially of increased mortality during development | temperature conditional phenotype of Ankle2^A

(Link et al., 2019)

Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}/Scer\GAL4^da.G32 is a suppressor | partially of abnormal neuroanatomy | third instar larval stage phenotype of Ankle2^A

(Link et al., 2019)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\ANKLE2^{L573V.UAS.Tag:FLAG}/Scer\GAL4^da.G32 is a suppressor | partially of larval brain | third instar larval stage phenotype of Ankle2^A

(Link et al., 2019)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

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

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

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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