FlyBase Allele Report: Dmel\bor[T2A-Gal4]

General Information

Symbol

Dmel\bor^T2A-Gal4

Species

D. melanogaster

Name

FlyBase ID

FBal0368038

Feature type

allele

Associated gene

Dmel\bor

Associated Insertion(s)

TI{2A-GAL4}bor^T2A-Gal4

Carried in Construct

Key Links

Allele class

loss of function allele

Mutagen

Nature of the Allele

Allele class

loss of function allele

(Yap et al., 2021)

Mutagen

CRISPR/Cas9

(Yap et al., 2021)

gene targeting by homologous recombination

(Yap et al., 2021)

Progenitor genotype

Associated Insertion(s)

TI{2A-GAL4}bor^T2A-Gal4

Cytology

Description

A T2A-GAL4 sequence cassette has been inserted into the first coding intron of bor. This is expected to truncate the bor protein and also result in the separate translation of GAL4 under the control of the endogenous bor sequences.

(Yap et al., 2021)

Allele components

Component

Use(s)

Inserted element

TI{2A-GAL4}

promoter trap

Encoded product / tool

GAL4

binary expression system - driver

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 Harel-Yoon syndrome

CEC with bor^c05496

(Yap et al., 2021)

CEC with bor^{F56L.UAS.Tag:V5}, bor^c05496

(Yap et al., 2021)

CEC with bor^{G242V.UAS.Tag:V5}, bor^c05496

(Yap et al., 2021)

CEC with bor^{R333P.UAS.Tag:V5}, bor^c05496

(Yap et al., 2021)

CEC with bor^{K574del.UAS.Tag:V5}, bor^c05496

(Yap et al., 2021)

CEC with bor^{L83V.UAS.Tag:V5}, bor^c05496

(Yap 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)

Phenotypic Data

Phenotypic Class

abnormal flight | adult stage | progressive (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

abnormal locomotor behavior | adult stage | progressive (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

abnormal locomotor behavior | adult stage | progressive (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

abnormal neuroanatomy | embryonic stage (with bor^c05496)

(Yap et al., 2021)

decreased cell number | embryonic stage (with bor^c05496)

(Yap et al., 2021)

decreased size | embryonic stage (with bor^c05496)

(Yap et al., 2021)

flightless | adult stage | progressive (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

lethal (with bor^c05496)

(Yap et al., 2021)

lethal (with Df(3R)Exel7329)

(Yap et al., 2021)

short lived (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

short lived (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

Phenotype Manifest In

adult somatic muscle cell of thorax | adult stage (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

adult somatic muscle cell of thorax | adult stage (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

autolysosome | adult stage | increased number (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

autolysosome | adult stage | increased number (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

autophagosome | adult stage | increased number (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

autophagosome | adult stage | increased number (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

embryonic brain (with bor^c05496)

(Yap et al., 2021)

embryonic ventral nerve cord (with bor^c05496)

(Yap et al., 2021)

lysosome | adult stage | increased number (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

lysosome | adult stage | increased number (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

mitochondrial crista | adult stage (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

mitochondrial crista | adult stage (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

mitochondrion | adult stage (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{L83V.UAS.Tag:V5}

(Yap et al., 2021)

mitochondrion | adult stage (with bor^c05496), with Scer\GAL4^bor-T2A-Gal4, bor^{R176W.UAS.Tag:V5}

(Yap et al., 2021)

mitochondrion | embryonic stage | increased number (with bor^c05496)

(Yap et al., 2021)

neuron projection | embryonic stage (with bor^c05496)

(Yap et al., 2021)

peripheral nervous system | embryonic stage (with bor^c05496)

(Yap et al., 2021)

Detailed Description

Statement

Reference

bor^T2A-Gal4/bor^c05496 embryos show central nervous system defects (brain mis-location, twisted and shrunken VNC, and partial absence of the VNC) and peripheral nervous system defects (partial absence of peripheral nervous system cells, misguided neural tracks, and failure of correct cell specification), as well as increased mitochondrial content.

bor^T2A-Gal4/bor^c05496 adults expressing either bor^{L83V.UAS.Tag:V5} or bor^{R176W.UAS.Tag:V5} under the control of Scer\GAL4^bor-T2A-Gal4 (the intrinsic driver of bor^T2A-Gal4) are short lived and show a progressive decrease in climbing and flight activity; thorax muscles exhibit larger (bor^{L83V.UAS.Tag:V5}) or shorter (bor^{R176W.UAS.Tag:V5}) mitochondria, with cristae defects, and increased autophagic intermediates.