FlyBase Allele Report: Hsap\OPA1[2708del.UAS.Tag:HA,Tag:MYC]

General Information

Symbol

Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC}

Species

H. sapiens

Name

FlyBase ID

FBal0405472

Feature type

allele

Associated gene

Hsap\OPA1

Associated Insertion(s)

Carried in Construct

P{UAS-hOPA1.2708del.HA.MYC}

Key Links

Transgenic product class

inframe_deletion

(Nitta et al., 2024)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Nitta et al., 2024)

Mutagen

in vitro construct

(Nitta et al., 2024)

Progenitor genotype

Carried in construct

P{UAS-hOPA1.2708del.HA.MYC}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\OPA1 cDNA (NM_015560.3) with a deletion from 2708 to 2711; tagged at the N-terminal with Tag:HA and at the C-terminal with Tag:MYC.

(Nitta et al., 2024)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Tagged with

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 optic atrophy 1

CEA

(Nitta et al., 2024)

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.

(Nitta et al., 2024)

OPA1:p.Val903GlyfsTer3

(FlyBase curators, 2019-)

Variants Synonym(s)

OPA1:p.Val848GlyfsTer3

many additional synonyms

Associated human disease model(s)

External database links

ClinVar: 5082

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

NOT Enhancer of

Statement

Reference

Scer\GAL4^GMR.PF, Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC} is a non-enhancer of abnormal neuroanatomy | adult stage | somatic clone - tissue specific phenotype of Hsap\OPA1^{UAS.Tag:HA,Tag:MYC}, Opa1^s3475, Scer\GAL4^GMR.PF

(Nitta et al., 2024)

Suppressor of

Statement

Reference

Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC}/Scer\GAL4^ey.PH is a suppressor | partially of abnormal neuroanatomy | adult stage | somatic clone - tissue specific phenotype of Opa1^s3475

(Nitta et al., 2024)

NOT Suppressor of

Statement

Reference

Scer\GAL4^GMR.PF, Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC} is a non-suppressor of abnormal neuroanatomy | adult stage | somatic clone - tissue specific phenotype of Hsap\OPA1^{UAS.Tag:HA,Tag:MYC}, Opa1^s3475, Scer\GAL4^GMR.PF

(Nitta et al., 2024)

Phenotype Manifest In

NOT Enhancer of

Statement

Reference

Scer\GAL4^GMR.PF, Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC} is a non-enhancer of axon | adult stage | decreased number | somatic clone - tissue specific phenotype of Hsap\OPA1^{UAS.Tag:HA,Tag:MYC}, Opa1^s3475, Scer\GAL4^GMR.PF

(Nitta et al., 2024)

Scer\GAL4^GMR.PF, Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC} is a non-enhancer of eye photoreceptor cell | adult stage | somatic clone - tissue specific phenotype of Hsap\OPA1^{UAS.Tag:HA,Tag:MYC}, Opa1^s3475, Scer\GAL4^GMR.PF

(Nitta et al., 2024)

Suppressor of

Statement

Reference

Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC}/Scer\GAL4^ey.PH is a suppressor | partially of axon | adult stage | decreased number | somatic clone - tissue specific phenotype of Opa1^s3475

(Nitta et al., 2024)

Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC}/Scer\GAL4^ey.PH is a suppressor | partially of eye photoreceptor cell | adult stage | somatic clone - tissue specific phenotype of Opa1^s3475

(Nitta et al., 2024)

NOT Suppressor of

Statement

Reference

Scer\GAL4^GMR.PF, Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC} is a non-suppressor of axon | adult stage | decreased number | somatic clone - tissue specific phenotype of Hsap\OPA1^{UAS.Tag:HA,Tag:MYC}, Opa1^s3475, Scer\GAL4^GMR.PF

(Nitta et al., 2024)

Scer\GAL4^GMR.PF, Hsap\OPA1^{2708del.UAS.Tag:HA,Tag:MYC} is a non-suppressor of eye photoreceptor cell | adult stage | somatic clone - tissue specific phenotype of Hsap\OPA1^{UAS.Tag:HA,Tag:MYC}, Opa1^s3475, Scer\GAL4^GMR.PF

(Nitta et al., 2024)

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\OPA1^{2708del.UAS.Tag:HA,Tag:MYC}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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