FlyBase Allele Report: Dmel\Galt[Δ1AP2]

General Information

Symbol

Dmel\Galt^Δ1AP2

Species

D. melanogaster

Name

FlyBase ID

FBal0249087

Feature type

allele

Associated gene

Dmel\Galt

Associated Insertion(s)

Carried in Construct

Also Known As

dGALT^ΔAP2

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele

Mutagen

Nature of the Allele

Allele class

amorphic allele

(Kushner et al., 2010)

Mutagen

Delta2-3 transposase

(Kushner et al., 2010)

P-element activity

(Jumbo-Lucioni et al., 2013)

Progenitor genotype

P{SUPor-P}Galt^KG00049

(Kushner et al., 2010)

Galt^KG00049

(Jumbo-Lucioni et al., 2013)

Cytology

Description

Imprecise excision of P{SUPor-P}GALT^KG00049 resulting in a 1647-bp deletion removing virtually the entire coding region of the GALT gene, with a small remnant of the P-element sequence left behind.

(Kushner et al., 2010)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

2L:6,666,300..6,667,947 [-]

Comment:

1647 bp deletion resulting from the imprecise excision of P{SUPor-P}Galt^KG00049, rmoves most of the Galt gene and leaves behind 13 bp of P-element sequence. Boundary sequences used to map deletion from Figure S1.

Inserted_sequence:

CATGATGAAATAA

(Kushner et al., 2010)

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 galactosemia

CEA

(Jumbo-Lucioni et al., 2014, Jumbo-Lucioni et al., 2014, Jumbo-Lucioni et al., 2013, Ryan et al., 2012, Kushner et al., 2010)

model of classic galactosemia

CEA

(Daenzer et al., 2016)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of galactosemia

is ameliorated by Hsap\GALT^UAS.cKa

(Jumbo-Lucioni et al., 2014, Kushner et al., 2010)

is ameliorated by Galk^ΔEXC9

(Jumbo-Lucioni et al., 2014)

is ameliorated by sgl^UY771

(Jumbo-Lucioni et al., 2014)

is exacerbated by Ugp^f03515

(Jumbo-Lucioni et al., 2016)

is exacerbated by Ugp^d07256

(Jumbo-Lucioni et al., 2016)

is exacerbated by Gale^h

(Jumbo-Lucioni et al., 2016)

model of classic galactosemia

is exacerbated by Galk^RNAi.Sym.UAS

(Daenzer et al., 2016)

exacerbates galactosemia

modeled by Gale^h

(Jumbo-Lucioni et al., 2016)

modeled by Gale^GD7464

(Jumbo-Lucioni et al., 2016)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior (with Df(2L)Exel7027)

(Ryan et al., 2012)

abnormal locomotor behavior | adult stage

(Jumbo-Lucioni et al., 2014, Jumbo-Lucioni et al., 2014)

abnormal locomotor behavior | adult stage | progressive

(Ryan et al., 2012)

abnormal locomotor behavior | adult stage | recessive

(Kushner et al., 2010)

abnormal locomotor behavior | third instar larval stage

(Jumbo-Lucioni et al., 2014)

abnormal locomotor behavior | third instar larval stage (with Df(2L)BSC187)

(Jumbo-Lucioni et al., 2014)

abnormal neuroanatomy | larval stage

(Jumbo-Lucioni et al., 2016)

abnormal neuroanatomy | third instar larval stage

(Jumbo-Lucioni et al., 2014)

abnormal neuroanatomy | third instar larval stage (with Df(2L)BSC187)

(Jumbo-Lucioni et al., 2014)

abnormal oxidative stress response

(Jumbo-Lucioni et al., 2013)

abnormal oxidative stress response | chemical conditional

(Jumbo-Lucioni et al., 2013)

lethal | chemical conditional (with Df(2L)Exel7027)

(Kushner et al., 2010)

lethal - all die before end of larval stage | chemical conditional | recessive

(Kushner et al., 2010)

partially lethal - majority die

(Jumbo-Lucioni et al., 2014)

some die during larval stage | recessive

(Kushner et al., 2010)

uncoordinated | larval stage

(Jumbo-Lucioni et al., 2016)

Phenotype Manifest In

Detailed Description

Statement

Reference

Galt^Δ1AP2 homozygous larvae exhibit slower movements in righting assays, as compared to controls. Their neuromuscular junctions exhibit morphological defects, as there are significantly more branches, synaptic boutons and looped boutons, as compared to controls.

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2/Galt^Δ1AP2 larvae exhibit a significant decrease in survival to adulthood in the presence of dietary galactose, and also show a galactose-independent significant decrease in adult climbing ability, as compared to controls.

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2/Galt^Δ1AP2 mutants exhibit significantly decreased locomotor activity in adult flies, and larval NMJs exhibit significantly more branches and reduced inter-bouton distances, as compared to controls. Galt^Δ1AP2/Galt^Δ1AP2 and Galt^Δ1AP2/Df(2L)BSC187 mutants exhibit defective rolling behavior in L3 larvae, taking significantly more time to roll from inverted to upright, as compared to controls; NMJs of these mutants display synaptic structural over-elaboration, with a significant increase in synaptic bouton number and synapse branch number, but mean excitatory junction current amplitude is not significantly different in Galt^Δ1AP2/Df(2L)BSC187 mutants, as compared to controls.

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 mutants fed on 555mM glucose fly food with added doses of paraquat or dimetyl sulfoxide exhibit a dose-dependent sensitivity to these compounds, with increasing quantities resulting in increasing lethality.

Galt^Δ1AP2 mutants fed on fly food containing 200mM galactose exhibit increased sensitivity and lower survival rates than wild-type flies fed on fly food containing 200mM galactose. Addition of 50, 100, and 200υM paraquat to the fly food decreased survival rates even further in these mutants, while wild-type flies are affected to a lesser degree. Addition of 67, 133, or 267υM dimetyl sulfoxide to fly food containing 200mM galactose results in a dose-dependent negative impact on Galt^Δ1AP2 mutant larval survival. In the absence of galactose, the addition of dimetyl sulfoxide does not affect survival except when 267υM is added, which decreases survival to pupation and eclosion by just over 10%, compared to controls.

The addition of 20, 40, and 80υM vitamin C or 40, 120, and 360υM α-mangostin to galactose containing fly food results in a significant increase in the survival rates of Galt^Δ1AP2 mutants.

(Jumbo-Lucioni et al., 2013)

2-3 day old homozygous Galt^Δ1AP2 mutant flies exhibit movement and climbing abnormalities that worsen profoundly with age, in contrast to the gradual, progressive decline seen in controls. Larvae raised on food supplemented with galactose, but transferred to food containing standard levels of glucose at eclosion, have an indistinguishable phenotype. Galt^Δ1AP2 mutant larvae raised on galactose exhibit raised gal-1P levels during the larval stages compared to controls, but this increase is not maintained following the transfer to glucose only food at eclosion.

1-2 day old Galt^Δ1AP2 mutant flies demonstrate normal configuration of major brain structures. The cortex is well preserved, as is the neuropil. Vacuoles are modest in size and number and are seen at a similar frequency to controls. Indirect flight muscles also appear structurally normal. Similar results are seen in 1 or 2 week old flies.

Galt^Δ1AP2/Df(2L)Exel7027 mutant flies exhibit movement abnormalities.

(Ryan et al., 2012)

Homozygous GALT^Δ1AP2 or hemizygous GALT^Δ1AP2/Df(2L)Exel7027 flies in the progeny of homozygous GALT^Δ1AP2 mothers display galactose-dependent lethality: the mutants survive in the presence of dietary glucose, but they fail to survive if galactose is present in their food. The lethality of GALT^Δ1AP2 homozygotes that are exposed to galactose occurs after first instar larval stages when feeding commences.

Despite lifelong dietary restriction of galactose, GALT^Δ1AP2 homozygotes display impaired geotactic response.

(Kushner et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Galt^Δ1AP2 has uncoordinated | larval stage phenotype, enhanceable by Gale^h/Gale^h

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2 has uncoordinated | larval stage phenotype, enhanceable by Scer\GAL4^elav.PU/Gale^GD7464

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2 has uncoordinated | larval stage phenotype, enhanceable by Ugp^d07256/Ugp^f03515

(Jumbo-Lucioni et al., 2016)

NOT Enhanced by

Statement

Reference

Galt^Δ1AP2 has abnormal neuroanatomy | larval stage phenotype, non-enhanceable by Gale^h/Gale^h

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2 has abnormal neuroanatomy | larval stage phenotype, non-enhanceable by Scer\GAL4^elav.PU/Gale^GD7464

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2 has uncoordinated | larval stage phenotype, non-enhanceable by Scer\GAL4^how-24B/Gale^GD7464

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2 has abnormal neuroanatomy | larval stage phenotype, non-enhanceable by Ugp^d07256/Ugp^f03515

(Jumbo-Lucioni et al., 2016)

Suppressed by

Statement

Reference

Galt^Δ1AP2 has abnormal locomotor behavior | third instar larval stage phenotype, suppressible by Galk^ΔEXC9/Galk^ΔEXC9

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Galk^ΔEXC9/Galk^ΔEXC9

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has abnormal locomotor behavior | third instar larval stage phenotype, suppressible by sgl^UY771/Scer\GAL4^da.G32

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by sgl^UY771/Scer\GAL4^da.G32

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has abnormal locomotor behavior | third instar larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\GALT^UAS.cKa

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\GALT^UAS.cKa

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has abnormal locomotor behavior | adult stage phenotype, suppressible by Hsap\GALT^UAS.cKa

(Ryan et al., 2012)

Galt^Δ1AP2 has abnormal locomotor behavior phenotype, suppressible by Scer\GAL4^Act5C.PI/Hsap\GALT^UAS.cKa

(Ryan et al., 2012)

Galt^Δ1AP2 has lethal | recessive | larval stage | chemical conditional phenotype, suppressible by Scer\GAL4^Tub.PU/Hsap\GALT^UAS.cKa

(Kushner et al., 2010)

Enhancer of

Statement

Reference

Galt^Δ1AP2/Galt^Δ1AP2 is an enhancer of uncoordinated | larval stage phenotype of Gale^GD7464, Scer\GAL4^elav.PU

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2/Galt^Δ1AP2 is an enhancer of uncoordinated | larval stage phenotype of Gale^h

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2/Galt^Δ1AP2 is an enhancer of uncoordinated | larval stage phenotype of Ugp^d07256/Ugp^f03515

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2/Galt^Δ1AP2 is an enhancer of abnormal neurophysiology | larval stage phenotype of Gale^h

(Jumbo-Lucioni et al., 2016)

NOT Enhancer of

Statement

Reference

Galt^Δ1AP2/Galt^Δ1AP2 is a non-enhancer of abnormal neuroanatomy | larval stage phenotype of Gale^GD7464, Scer\GAL4^elav.PU

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2/Galt^Δ1AP2 is a non-enhancer of abnormal neuroanatomy | larval stage phenotype of Ugp^d07256/Ugp^f03515

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2/Galt^Δ1AP2 is a non-enhancer of abnormal neuroanatomy | larval stage phenotype of Gale^h

(Jumbo-Lucioni et al., 2016)

NOT Suppressor of

Statement

Reference

Galt^Δ1AP2/Galt^Δ1AP2 is a non-suppressor of abnormal neuroanatomy | larval stage phenotype of Ugp^d07256/Ugp^f03515

(Jumbo-Lucioni et al., 2016)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Galt^Δ1AP2 has embryonic/larval neuromuscular junction | larval stage phenotype, non-enhanceable by Gale^h/Gale^h

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2 has embryonic/larval neuromuscular junction | larval stage phenotype, non-enhanceable by Scer\GAL4^elav.PU/Gale^GD7464

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2 has embryonic/larval neuromuscular junction | larval stage phenotype, non-enhanceable by Ugp^d07256/Ugp^f03515

(Jumbo-Lucioni et al., 2016)

Suppressed by

Statement

Reference

Galt^Δ1AP2 has NMJ bouton | third instar larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\GALT^UAS.cKa

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has synapse | third instar larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\GALT^UAS.cKa

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, suppressible by Scer\GAL4^da.G32/Hsap\GALT^UAS.cKa

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has NMJ bouton | third instar larval stage phenotype, suppressible by Galk^ΔEXC9/Galk^ΔEXC9

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has synapse | third instar larval stage phenotype, suppressible by Galk^ΔEXC9/Galk^ΔEXC9

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, suppressible by Galk^ΔEXC9/Galk^ΔEXC9

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has NMJ bouton | third instar larval stage phenotype, suppressible by sgl^UY771/Scer\GAL4^da.G32

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has synapse | third instar larval stage phenotype, suppressible by sgl^UY771/Scer\GAL4^da.G32

(Jumbo-Lucioni et al., 2014)

Galt^Δ1AP2 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, suppressible by sgl^UY771/Scer\GAL4^da.G32

(Jumbo-Lucioni et al., 2014)

Enhancer of

Statement

Reference

Galt^Δ1AP2/Galt^Δ1AP2 is an enhancer of embryonic/larval neuromuscular junction | larval stage phenotype of Gale^h

(Jumbo-Lucioni et al., 2016)

NOT Enhancer of

Statement

Reference

Galt^Δ1AP2/Galt^Δ1AP2 is a non-enhancer of NMJ bouton | larval stage phenotype of Gale^h

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2/Galt^Δ1AP2 is a non-enhancer of NMJ bouton | larval stage phenotype of Gale^GD7464, Scer\GAL4^elav.PU

(Jumbo-Lucioni et al., 2016)

Galt^Δ1AP2/Galt^Δ1AP2 is a non-enhancer of NMJ bouton | larval stage phenotype of Ugp^d07256/Ugp^f03515

(Jumbo-Lucioni et al., 2016)

NOT Suppressor of

Statement

Reference

Galt^Δ1AP2/Galt^Δ1AP2 is a non-suppressor of NMJ bouton | larval stage phenotype of Ugp^d07256/Ugp^f03515

(Jumbo-Lucioni et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Larval neuromuscular junctions in UGP^f03515/UGP^d07256, Galt^Δ1AP2/+ do not show defects in excitatory junctional current amplitudes.

(Jumbo-Lucioni et al., 2016)

Galk^ΔEXC9/Galk^ΔEXC9 suppresses the rolling movement defects and NMJ over-elaboration phenotypes seen in Galt^Δ1AP2/Galt^Δ1AP2 mutant larvae.

Expression of sgl^UY771 under the control of Scer\GAL4^da.G32 suppresses the rolling movement defects and the NMJ over-elaboration phenotypes seen in Galt^Δ1AP2/Galt^Δ1AP2 mutant larvae.

(Jumbo-Lucioni et al., 2014)

GALT^Δ1AP2/+ genetically complements +/cup⁰¹³⁵⁵.

cup^KG00049/+, +/GALT^Δ1AP2 females are viable and fertile.

(Kushner et al., 2010)

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\GALT^Scer\UAS.cKa under the control of Scer\GAL4^da.G32 suppresses the rolling movement defects and the NMJ over-elaboration phenotypes seen in Galt^Δ1AP2/Galt^Δ1AP2 mutant larvae.

(Jumbo-Lucioni et al., 2014)

Expression of either one or two copies of the P{UAS-hGALT.K}10A11 insertion of Hsap\GALT^Scer\UAS.cKa is able to significantly suppress the locomotor phenotypes seen in homozygous Galt^Δ1AP2 mutant flies even in the absence of a Scer\GAL4 driver. When the P{UAS-hGALT.K}10B22 insertion of Hsap\GALT^Scer\UAS.cKa is expressed under the control of Scer\GAL4^Act5C.PI locomotor and climbing behavior is comparable to controls.

(Ryan et al., 2012)

Expression of Hsap\GALT^Scer\UAS.cKa driven by Scer\GAL4^tub.PU rescues the galactose-dependent lethality in GALT^Δ1AP2 homozygotes.

(Kushner et al., 2010)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

93183

w^*; Galt^Δ1AP2

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (7)

Reported As

Symbol Synonym

GALT-null

(Ryan et al., 2012)

GALT^Δ1AP2

GALT^ΔAP2

(Daenzer et al., 2016)

Galt^Δ1AP2

dGALT^Δ1AP2

(Kushner et al., 2010)

dGALT^ΔAP2

(Jumbo-Lucioni et al., 2016, Jumbo-Lucioni et al., 2014, Jumbo-Lucioni et al., 2013, Ryan et al., 2012)

dGalt^ΔAP2

(Jumbo-Lucioni et al., 2014)

Name Synonyms

Secondary FlyBase IDs

References (7)

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