FlyBase Allele Report: Hsap\TNPO3[mut.UAS.Tag:HA]

General Information

Symbol

Hsap\TNPO3^{mut.UAS.Tag:HA}

Species

H. sapiens

Name

FlyBase ID

FBal0369963

Feature type

allele

Associated gene

Hsap\TNPO3

Associated Insertion(s)

Carried in Construct

P{UAS-hTNPO3.mut.HA}

Key Links

Transgenic product class

frameshift_elongation

(Blázquez-Bernal et al., 2021)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

frameshift_elongation

(Blázquez-Bernal et al., 2021)

Mutagen

in vitro construct

(Blázquez-Bernal et al., 2021)

Progenitor genotype

Carried in construct

P{UAS-hTNPO3.mut.HA}

Cytology

Description

UASt regulatory sequences drive expression of a Hsap\TNPO3 cDNA that has been mutated to carry the c.2771delA variant; this mutation deletes a single nucleotide in the stop codon of the wild-type coding sequence, resulting in a C-terminal extension of 15 amino acids, and is a pathogenic variant associated with limb-girdle muscular dystrophy D2. The coding sequence is tagged at the N-terminal end with Tag:HA.

(Blázquez-Bernal et al., 2021)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\TNPO3

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 autosomal dominant limb-girdle muscular dystrophy type 2

CEA with Tnpo-SR^JF02010

(Blázquez-Bernal et al., 2021)

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.

(Blázquez-Bernal et al., 2021)

TNPO3:p.Ter924Cys15

(FlyBase curators, 2019-)

Variants Synonym(s)

TNPO3:p.Ter924CysextTer?

Associated human disease model(s)

muscular dystrophy, limb-girdle, autosomal dominant 2

External database links

ClinVar: 135660

Comments concerning this variant

15-aa extension: CSHSCTVPVTQECLF

(FlyBase curators, 2019-)

Frameshift at stop codon; extends beyond original stop.

(FlyBase curators, 2019-)

Phenotypic Data

Phenotypic Class

abnormal flight, with Scer\GAL4^Mhc.PW

(Blázquez-Bernal et al., 2021)

abnormal flight, with Scer\GAL4^Toll-6-D42

(Blázquez-Bernal et al., 2021)

abnormal locomotor behavior | adult stage, with Scer\GAL4^Mhc.PW

(Blázquez-Bernal et al., 2021)

abnormal locomotor behavior | adult stage, with Scer\GAL4^Toll-6-D42

(Blázquez-Bernal et al., 2021)

atrophy | adult stage | progressive, with Scer\GAL4^Mhc.PW

(Blázquez-Bernal et al., 2021)

atrophy | adult stage | progressive, with Scer\GAL4^Toll-6-D42

(Blázquez-Bernal et al., 2021)

decreased size | adult stage, with Scer\GAL4^Mhc.PW

(Blázquez-Bernal et al., 2021)

decreased size | adult stage, with Scer\GAL4^Toll-6-D42

(Blázquez-Bernal et al., 2021)

majority die during P-stage, with Scer\GAL4^Toll-6-D42

(Blázquez-Bernal et al., 2021)

partially lethal - majority die, with Scer\GAL4^Toll-6-D42

(Blázquez-Bernal et al., 2021)

short lived, with Scer\GAL4^Mhc.PW

(Blázquez-Bernal et al., 2021)

short lived, with Scer\GAL4^Toll-6-D42

(Blázquez-Bernal et al., 2021)

some die during pharate adult stage, with Scer\GAL4^Toll-6-D42

(Blázquez-Bernal et al., 2021)

viable, with Scer\GAL4^Mhc.PW

(Blázquez-Bernal et al., 2021)

visible | adult stage | progressive, with Scer\GAL4^Mhc.PW

(Blázquez-Bernal et al., 2021)

Phenotype Manifest In

Detailed Description

Statement

Reference

The expression of Hsap\TNPO3^{mut.UAS.Tag:HA} under the control of Scer\GAL4^Mhc.PW leads to decreased adult climbing and flight ability. Expression under the control of either Scer\GAL4^Mhc.PW or Scer\GAL4^Toll-6-D42 leads to a progressive decrease in adult indirect flight muscle area and to thinner abdominal segment muscle fibers in 15-days old fibers. Expression under the control of Scer\GAL4^Mhc.PW leads to an upheld wing phenotype from day 7 post eclosion. Expression under the control of Scer\GAL4^Toll-6-D42 leads to adults with a wrinkled wing phenotype.

(Blázquez-Bernal et al., 2021)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

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\TNPO3^{mut.UAS.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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