FlyBase Allele Report: Dmel\Gba1b[MB03039]

General Information

Symbol

Dmel\Gba1b^MB03039

Species

D. melanogaster

Name

FlyBase ID

FBal0192397

Feature type

allele

Associated gene

Dmel\Gba1b

Associated Insertion(s)

Mi{ET1}Gba1b^MB03039

Carried in Construct

Also Known As

Mi{ET1}CG31414

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - molecular evidence

Mutagen

Nature of the Allele

Allele class

hypomorphic allele - molecular evidence

(Cabasso et al., 2019, Kawasaki et al., 2017)

Mutagen

Progenitor genotype

Associated Insertion(s)

Mi{ET1}Gba1b^MB03039

Cytology

Description

A Mi{ET1} insertion, predicted to truncate the Gba1b transcript and produce a protein lacking the 133 C-terminal amino acids (one of which, W408, is supposed to stabilize the active site).

(Cabasso et al., 2019)

Allele components

Component

Use(s)

Inserted element

Mi{ET1}

enhancer trap

Encoded product / tool

GAL4

binary expression system - driver

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

transposable_element_insertion_site

3R:23,706,761..23,706,761 [-]

(Cabasso et al., 2021, Jewett et al., 2021, Maor et al., 2016, Maor et al., 2013, Bellen, 2007.4.5)

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 with Gba1a^MB02296

(Maor et al., 2013)

CEA

(Cabasso et al., 2019, Kawasaki et al., 2017)

model of Parkinson's disease

CEA with Gba1a^MB02296

(Maor et al., 2016)

CEA

(Jewett et al., 2021)

model of Lewy body dementia

CEA

(Jewett et al., 2021)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Lewy body dementia

is ameliorated by Hsap\GBA1^WT.UAS

(Jewett et al., 2021)

is exacerbated by nSMase^HMS03020

(Jewett et al., 2021)

model of Parkinson's disease

is ameliorated by Hsap\GBA1^WT.UAS

(Jewett et al., 2021)

is exacerbated by nSMase^HMS03020

(Jewett et al., 2021)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

Disease model based on activation of unfolded protein response.

(Maor et al., 2013)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage

(Kawasaki et al., 2017)

abnormal sleep

(Kawasaki et al., 2017)

short lived

(Jewett et al., 2021, Kawasaki et al., 2017)

Phenotype Manifest In

Detailed Description

Statement

Reference

Aged Gba1b^MB03039 adult mutants display reduced climbing ability compared to age-matched controls. The mutant adults show reduced adult survival rate under standard as well as low-nutrient conditions and significant decrease in total night-time sleep as well as the duration of the sleep bouts.

(Kawasaki et al., 2017)

(Maor et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Gba1a^MB02296, Gba1b[+]/Gba1b^MB03039 has short lived phenotype

(Maor et al., 2016)

Gba1a^MB02296, Gba1b[+]/Gba1b^MB03039 has abnormal neuroanatomy | adult stage | progressive phenotype

(Maor et al., 2016)

Gba1a^MB02296, Gba1b[+]/Gba1b^MB03039 has decreased cell number | adult stage | progressive phenotype

(Maor et al., 2016)

CG31148[+]/Gba1a^MB02296, Gba1b^MB03039 has abnormal locomotor behavior phenotype

(Maor et al., 2013)

CG31148[+]/Gba1a^MB02296, Gba1b^MB03039 has some die during third instar larval stage phenotype

(Maor et al., 2013)

CG31148[+]/Gba1a^MB02296, Gba1b^MB03039 has some die during pupal stage phenotype

(Maor et al., 2013)

Phenotype Manifest In

Other

Statement

Reference

Gba1a^MB02296, Gba1b[+]/Gba1b^MB03039 has dopaminergic PPM2 neuron | adult stage | progressive phenotype

(Maor et al., 2016)

Gba1a^MB02296, Gba1b[+]/Gba1b^MB03039 has dopaminergic neuron | adult stage | progressive phenotype

(Maor et al., 2016)

Gba1a^MB02296, Gba1b[+]/Gba1b^MB03039 has dopaminergic PPL1 neuron | adult stage | progressive phenotype

(Maor et al., 2016)

Gba1a^MB02296, Gba1b[+]/Gba1b^MB03039 has dopaminergic PPM1 neuron | adult stage | progressive phenotype

(Maor et al., 2016)

Gba1a^MB02296, Gba1b[+]/Gba1b^MB03039 has dopaminergic PPM3 neuron | adult stage | progressive phenotype

(Maor et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Gba1a^MB02296, Gba1b^MB03039 double heterozygotes show a progressive decrease in the number of adult dopaminergic neurons (total neurons and PPL1, PPM1/2 and PPM3 cluster neurons), as it is observed at day 22, but not at days 2 and 12, post eclosion, as compared to controls.

(Maor et al., 2016)

CG31414^MB03039/+, CG31148^MB02296/+ double heterozygotes show a significant decrease in survival from L3 larva to pupa and again from pupa to adult, compared to controls.

CG31414^MB03039/+, CG31148^MB02296/+ double heterozygotes show significant locomotion dysfunction (measured in a climbing assay) at 22 days of age, compared to controls.

(Maor et al., 2013)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Gba1b^MB03039 is rescued by Scer\GAL4^elav-C155/Gba1b^UAS.cDa

(Jewett et al., 2021)

Gba1b^MB03039 is rescued by Gba1b^UAS.cDa/Scer\GAL4^Act88F.1.3

(Jewett et al., 2021)

Fails to rescue

Gba1b^MB03039 fails to rescue Gba1b^UAS.cDa

(Jewett et al., 2021)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

23602

w¹¹¹⁸; Mi{ET1}Gba1b^MB03039/TM6C, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

CG31414^MB03039

(Bellen, 2007.4.5)

CG31414^Mi

(Kawasaki et al., 2017)

GBA1b^m

(Cabasso et al., 2019)

Gba1b^MB03039

(Titus et al., 2023, Jewett et al., 2021)

Name Synonyms

Secondary FlyBase IDs

References (8)

Report Sections

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