FlyBase Allele Report: Hsap\ALK[F1174L.UAS]

General Information

Symbol

Hsap\ALK^F1174L.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0266007

Feature type

allele

Associated gene

Hsap\ALK

Associated Insertion(s)

Carried in Construct

P{UAS-hALK.F1174L}

Also Known As

UAS-ALK^F1174L, UAS-hALK^F1174L

Key Links

Transgenic product class

missense_variant

(Schönherr et al., 2011)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Schönherr et al., 2011)

Mutagen

in vitro construct

(Schönherr et al., 2011)

Progenitor genotype

Carried in construct

P{UAS-hALK.F1174L}

Cytology

Description

UAS regulatory sequences drive expression of a mutated form of Hsap\ALK (amino acid replacement: F1174L). An 898bp fragment preceeding the translation start site has been removed to increase expression efficiency in Drosophila.

(Schönherr et al., 2011)

Amino acid replacement: F1174L.

(Schönherr et al., 2011)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\ALK

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 neuroblastoma

CEA

(Pfeifer et al., 2022, Wolfstetter et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of cancer

is ameliorated by 14-3-3ε^S-696

(Wolfstetter et al., 2020)

is ameliorated by Sos^34Ea-7

(Wolfstetter et al., 2020)

is ameliorated by ksr^S-627

(Wolfstetter et al., 2020)

is ameliorated by pnt^Δ88

(Wolfstetter et al., 2020)

is ameliorated by wnd^d00622

(Wolfstetter et al., 2020)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Schönherr et al., 2011)

ALK:p.Phe1174Leu

(FlyBase curators, 2019-)

Variants Synonym(s)

ALK:p.Phe106Leu

Associated human disease model(s)

neuroblastoma, susceptibility to, 3

External database links

ClinVar: ALK_217849

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal size | adult stage, with Scer\GAL4^GMR.PFa

(Martinsson et al., 2011)

decreased body size | P-stage, with Scer\GAL4^elav-C155

(Pfeifer et al., 2022)

visible, with Scer\GAL4^GMR.PFa

(Siaw et al., 2016, Chand et al., 2013, Schönherr et al., 2011)

visible | adult stage, with Scer\GAL4^GMR.PF

(Guan et al., 2017)

visible | adult stage, with Scer\GAL4^GMR.PFa

(Martinsson et al., 2011)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Guan et al., 2017, Hugosson et al., 2014)

eye, with Scer\GAL4^GMR.PFa

(Siaw et al., 2016, Chand et al., 2013, Martinsson et al., 2011, Schönherr et al., 2011)

eye disc | third instar larval stage, with Scer\GAL4^GMR.PFa

(Martinsson et al., 2011)

interommatidial bristle, with Scer\GAL4^GMR.PFa

(Chand et al., 2013, Schönherr et al., 2011)

ommatidium, with Scer\GAL4^GMR.PFa

(Chand et al., 2013, Schönherr et al., 2011)

ommatidium | adult stage, with Scer\GAL4^GMR.PFa

(Martinsson et al., 2011)

pupa, with Scer\GAL4^elav-C155

(Pfeifer et al., 2022)

Detailed Description

Statement

Reference

Expression of Hsap\ALK^{F1174L.Scer\UAS} under the control of Scer\GAL4^GMR.PF results in a severe rough eye phenotype in the adults.

(Guan et al., 2017)

Expression of Hsap\ALK^{F1174L.Scer\UAS} driven by Scer\GAL4^GMR.PFa results in a fully penetrant rough eye phenotype.

(Siaw et al., 2016)

Scer\GAL4^GMR.PF-mediated expression strongly disrupts adult eye morphology.

(Hugosson et al., 2014)

Expression of Hsap\ALK^{F1174L.Scer\UAS} under the control of Scer\GAL4^GMR.PFa results in a rough eye phenotype. The regular hexagonal array of ommatidia is disorganised and many interommatidial bristles are missing.

(Chand et al., 2013)

Expression of Hsap\ALK^{F1174L.Scer\UAS} under the control of Scer\GAL4^GMR.PFa leads to severe morphological defects in both the third instar larval eye disc and the adult eye (small eyes with disrupted ommatidial lattice).

(Martinsson et al., 2011)

Expression of Hsap\ALK^{F1174L.Scer\UAS} under the control of Scer\GAL4^GMR.PFa results in a rough eye phenotype. The regular hexagonal arrangement of ommatidia is disrupted and many interommatidial bristles are missing.

(Schönherr et al., 2011)

Ectopic expression of the gain-of-function Hsap\ALK^{F1174L.Scer\UAS} transgene in the developing eye, under the control of Scer\GAL4^GMR.PFa, leads to the destruction of normal tissue morphology in the developing fly eye. The organization of the ommatidial units are clearly disrupted during third instar larval stages.

(Schönherr et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Hsap\ALK^F1174L.UAS, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by Hsap\MDK^UAS.cHa, Scer\GAL4^GMR.PF

(Hugosson et al., 2014)

Hsap\ALK^F1174L.UAS, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by Hsap\PTN^UAS.cHa, Scer\GAL4^GMR.PF

(Hugosson et al., 2014)

NOT suppressed by

Statement

Reference

Hsap\ALK^F1174L.UAS, Scer\GAL4^GMR.PF has eye phenotype, non-suppressible by Hsap\MDK^UAS.cHa, Scer\GAL4^GMR.PF

(Hugosson et al., 2014)

Hsap\ALK^F1174L.UAS, Scer\GAL4^GMR.PF has eye phenotype, non-suppressible by Hsap\PTN^UAS.cHa, Scer\GAL4^GMR.PF

(Hugosson et al., 2014)

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 (4)

Reported As

Symbol Synonym

ALK^F1174L

(Chand et al., 2013)

Hsap\ALK^{F1174L.Scer\UAS}

Hsap\ALK^F1174L.UAS

hALK^F1174L

(Schönherr et al., 2011)

Name Synonyms

Secondary FlyBase IDs

References (10)

Report Sections

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