FlyBase Allele Report: Dmel\Gba1b[KO]

General Information

Symbol

Dmel\Gba1b^KO

Species

D. melanogaster

Name

FlyBase ID

FBal0325647

Feature type

allele

Associated gene

Dmel\Gba1b

Associated Insertion(s)

TI{TI}Gba1b^KO

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ends-out gene targeting

Nature of the Allele

Allele class

loss of function allele

(Kinghorn et al., 2016)

Mutagen

ends-out gene targeting

(Kinghorn et al., 2016)

Progenitor genotype

Associated Insertion(s)

TI{TI}Gba1b^KO

Cytology

Description

A stop codon and subsequent frame-shift mutation have been introduced 12bp downstream of the predicted ATG start codon. An EcoRV restriction site has also been introduced.

(Kinghorn et al., 2016)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

3R:23,704,848..23,704,851 [+]

Inserted_sequence:

CTAGT

Comment:

GAAG is replaced with CTAGT shortly after the AUG of Gba1b. The result is the additon of a stop codon and a frameshift mutation.

(Kinghorn et al., 2016)

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 Gaucher's disease

CEA

(Atilano et al., 2023, Messelodi et al., 2023, Wang et al., 2022, Kinghorn et al., 2016)

CEA with Gba1b^HMS01885

(Messelodi et al., 2023)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Gaucher's disease

is exacerbated by Rel^{68.UAS.Tag:FLAG}

(Atilano et al., 2023)

is exacerbated by Rel^E20

(Atilano et al., 2023)

is ameliorated by Hsap\GBA1^UAS.cWa

(Wang et al., 2022)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Gba1b^KO homozygous adults display significantly reduced adult lifespan relative to controls (survival rate of the heterozygotes is similar to controls) and progressive decrease in climbing ability compared to age-matched controls. The females show reduced fecundity (number of eggs laid per day) which decreases further with age. Gba1b^KO homozygote adults are more sensitive to starvation (reduced survival rate) and show significantly reduced feeding activity (measured by the proboscis-extension assay). They also display abnormal accumulation of enlarged lysosomes adult brain (assessed by LysoTracker staining) and autophagy defects as well as defects in the ultrastructural morphology of ommatidia (rhabdomere area is significantly reduced) and mitochondria (appearance of giant mitochondria in the brain of aged flies). Aged Gba1b^KO flies also show increased sensitivity (reduced survival) to oxidative stress.

(Kinghorn et al., 2016)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Gba1b^KO has short lived phenotype, enhanceable by Rel^E20

(Atilano et al., 2023)

Gba1b^KO has short lived phenotype, enhanceable by Rel^{68.UAS.Tag:FLAG}/Scer\GAL4^αTub84B.PL

(Atilano et al., 2023)

Gba1b^KO has short lived phenotype, enhanceable by Scer\GAL4^Cg.PA/Rel^{68.UAS.Tag:FLAG}

(Atilano et al., 2023)

Gba1b^KO has abnormal starvation stress response | adult stage phenotype, enhanceable by Gba1a^KO/Gba1a^KO

(Kinghorn et al., 2016)

NOT Enhanced by

Statement

Reference

Gba1b^KO has decreased fecundity | recessive | female | progressive phenotype, non-enhanceable by Gba1a^KO/Gba1a^KO

(Kinghorn et al., 2016)

Gba1b^KO has abnormal locomotor behavior | adult stage | progressive phenotype, non-enhanceable by Gba1a^KO/Gba1a^KO

(Kinghorn et al., 2016)

Gba1b^KO has abnormal oxidative stress response | adult stage phenotype, non-enhanceable by Gba1a^KO/Gba1a^KO

(Kinghorn et al., 2016)

NOT suppressed by

Statement

Reference

Gba1b^KO has short lived phenotype, non-suppressible by Gba1a^KO/Gba1a^KO

(Kinghorn et al., 2016)

Gba1b^KO has abnormal locomotor behavior | adult stage | progressive phenotype, non-suppressible by Gba1a^KO/Gba1a^KO

(Kinghorn et al., 2016)

Gba1b^KO has abnormal oxidative stress response | adult stage phenotype, non-suppressible by Gba1a^KO/Gba1a^KO

(Kinghorn et al., 2016)

Gba1b^KO has decreased fecundity | recessive | female | progressive phenotype, non-suppressible by Gba1a^KO/Gba1a^KO

(Kinghorn et al., 2016)

Phenotype Manifest In

Other

Statement

Reference

Gba1b^KO, Rel^E20 has intestinal stem cell of posterior adult midgut epithelium | increased number phenotype

(Atilano et al., 2023)

Additional Comments

Genetic Interactions

Statement

Reference

The reduced adult lifespan along with the age-progressive decline in locomotor ability and decreased female fecundity characteristic for Gba1b^KO homozygous mutants is not modified by combination with Gba1a^KO in homozygous state.

The decreased survival rate upon starvation observed in Gba1b^KO homozygous adults is lowered further in Gba1b^KO,Gba1a^KO double mutants but the sensitivity of Gba1b^KO flies to oxidative stress is not worsened in the double mutants.

Gba1b^KO,Gba1a^KO double heterozygous flies have survival rate comparable to that of controls.

(Kinghorn et al., 2016)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

95275

w¹¹¹⁸; TI{TI}Gba1b^KO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

GBA-KO

(Messelodi et al., 2023)

Gba1b^KO

(Messelodi et al., 2023)

Gba1b^STOP

(Wang et al., 2022)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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