FlyBase Allele Report: Hsap\CFTR[ΔF508.UAS.Tag:HA]

General Information

Symbol

Hsap\CFTR^{ΔF508.UAS.Tag:HA}

Species

H. sapiens

Name

FlyBase ID

FBal0362151

Feature type

allele

Associated gene

Hsap\CFTR

Associated Insertion(s)

Carried in Construct

P{UAS-hCFTR.ΔF508.HA}

Key Links

Transgenic product class

inframe_deletion

(Kim et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Kim et al., 2020)

Mutagen

in vitro construct

(Kim et al., 2020)

Progenitor genotype

Carried in construct

P{UAS-hCFTR.ΔF508.HA}

Cytology

Description

UAS and a core promoter regulates expression of Tag:HA-tagged Hsap\CFTR carrying an in-frame deletion of phenylalanine 508, a mutation that occurs in more than 70% of Cystic Fibrosis patients and which affects Hsap\CFTR protein transport.

(Kim et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\CFTR

Tagged with

Tag:HA

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 cystic fibrosis

CEA

(Kim et al., 2020)

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.

(Kim et al., 2020)

CFTR:p.Phe508delPhe

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

cystic fibrosis, gastrointestinal pathologies

External database links

ClinVar: 7105

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\CFTR^{ΔF508.UAS.Tag:HA}, Scer\GAL4^Myo31DF.PU is a suppressor of short lived | conditional phenotype of Cftr^NIG.5789R, Scer\GAL4^Myo31DF.PU

(Kim et al., 2020)

NOT Suppressor of

Statement

Reference

Hsap\CFTR^{ΔF508.UAS.Tag:HA}, Scer\GAL4^Act5C.PP is a non-suppressor of increased cell size | adult stage phenotype of Cftr^NIG.5789R, Scer\GAL4^Act5C.PP

(Kim et al., 2020)

Hsap\CFTR^{ΔF508.UAS.Tag:HA}, Scer\GAL4^Myo31DF.PU is a non-suppressor of abnormal immune response | adult stage phenotype of Cftr^NIG.5789R, Scer\GAL4^Myo31DF.PU

(Kim et al., 2020)

Hsap\CFTR^{ΔF508.UAS.Tag:HA}, Scer\GAL4^Myo31DF.PU is a non-suppressor of increased occurrence of cell division | adult stage phenotype of Cftr^NIG.5789R, Scer\GAL4^Myo31DF.PU

(Kim et al., 2020)

Phenotype Manifest In

NOT Suppressor of

Statement

Reference

Hsap\CFTR^{ΔF508.UAS.Tag:HA}, Scer\GAL4^Act5C.PP is a non-suppressor of enterocyte of anterior adult midgut epithelium | somatic clone | adult stage phenotype of Cftr^NIG.5789R, Scer\GAL4^Act5C.PP

(Kim et al., 2020)

Hsap\CFTR^{ΔF508.UAS.Tag:HA}, Scer\GAL4^Myo31DF.PU is a non-suppressor of adult peritrophic membrane phenotype of Cftr^NIG.5789R, Scer\GAL4^Myo31DF.PU

(Kim et al., 2020)

Hsap\CFTR^{ΔF508.UAS.Tag:HA}, Scer\GAL4^Myo31DF.PU is a non-suppressor of adult midgut epithelium phenotype of Cftr^NIG.5789R, Scer\GAL4^Myo31DF.PU

(Kim et al., 2020)

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\CFTR^{ΔF508.UAS.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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