FlyBase Allele Report: Hsap\DISC1[UAS.Tag:HA]

General Information

Symbol

Hsap\DISC1^UAS.Tag:HA

Species

H. sapiens

Name

FlyBase ID

FBal0280389

Feature type

allele

Associated gene

Hsap\DISC1

Associated Insertion(s)

Carried in Construct

P{UAS-DISC1.HA}

Also Known As

UAS-DISC1, DISC1-FL

Key Links

Transgenic product class

wild_type

(Sawamura et al., 2008)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Sawamura et al., 2008)

Mutagen

in vitro construct

(Sawamura et al., 2008)

Progenitor genotype

Carried in construct

P{UAS-DISC1.HA}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\DISC1 tagged with a Tag:HA epitope.

(Sawamura et al., 2008)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\DISC1

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 schizophrenia 9

CEA

(Honda et al., 2024)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of schizophrenia 9

is ameliorated by Fmr1^Δ113M

(Honda et al., 2024)

is ameliorated by Fmr1^Δ50M

(Honda et al., 2024)

ameliorates fragile X syndrome

modeled by Fmr1^Δ50M

(Honda et al., 2024)

modeled by Fmr1^Δ113M

(Honda et al., 2024)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal memory | third instar larval stage, with Scer\GAL4^Tab2-201Y

(Furukubo-Tokunaga et al., 2016)

abnormal neuroanatomy | adult stage | somatic clone, with Scer\GAL4^ey-OK107

(Furukubo-Tokunaga et al., 2016)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^Tub.PU

(Furukubo-Tokunaga et al., 2016)

abnormal sleep | male limited, with Scer\GAL4^{Mef2.247.Switch}

(Sawamura et al., 2008)

Phenotype Manifest In

axon | adult stage | somatic clone, with Scer\GAL4^ey-OK107

(Furukubo-Tokunaga et al., 2016)

axon | third instar larval stage, with Scer\GAL4^Tub.PU

(Furukubo-Tokunaga et al., 2016)

dendrite | adult stage | somatic clone, with Scer\GAL4^ey-OK107

(Furukubo-Tokunaga et al., 2016)

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^Tub.PU

(Furukubo-Tokunaga et al., 2016)

gamma Kenyon cell | adult stage | somatic clone, with Scer\GAL4^ey-OK107

(Furukubo-Tokunaga et al., 2016)

neuromuscular junction | third instar larval stage, with Scer\GAL4^αTub84B.PL

(Pandey et al., 2017)

NMJ bouton, with Scer\GAL4^αTub84B.PL

(Pandey et al., 2017)

NMJ bouton | third instar larval stage, with Scer\GAL4^Tub.PU

(Furukubo-Tokunaga et al., 2016)

presynaptic active zone | third instar larval stage, with Scer\GAL4^αTub84B.PL

(Pandey et al., 2017)

Detailed Description

Statement

Reference

Scer\GAL4^αTub84B.PL-driven expression of Hsap\DISC1^{Scer\UAS.T:Ivir\HA1} results in reduced total bouton area in larval neuromuscular junction (NMJ), the number of boutons as well as number of branch points per NMJ is comparable to wild-type. Active zone density (assayed by brp staining) at the NMJ is, however, significantly increased relative to controls. Larval locomotor speed is not affected compared controls and the average cell body size of neurons in the ventral nerve cord is also not significantly different.

(Pandey et al., 2017)

Expression of Hsap\DISC1^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PU has no effect on eye structure and morphology in aged adults. Expression under the Scer\GAL4^Tab2-201Y driver results in decreased associative olphactory memory performance in third instar larvae compared to controls, but their olphactory as well as gustatory responses are normal.

The axonal branching of γ-neurons in MARCM somatic clones in the adult mushroom body expressing Hsap\DISC1^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^ey-OK107 is significantly reduced (both the number of branching points and the total branch length) compared to wild-type, the number of dendritic branch points is also reduced, but the number of dendritic claws remains normal.

Expression of Hsap\DISC1^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^tub.PU results in reduced total neuromuscular junction bouton area, although their number per junction is not decreased and neither is the number of axonal branching points.

(Furukubo-Tokunaga et al., 2016)

Male flies expressing Hsap\DISC1^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^{Mef2.247.Switch} (restricted to the adult stages by feeding flies RU486 from 3-6 days onwards) sleep more per day than controls. The average length of each sleep bout is increased but the frequency of sleeps is unaffected. No change in walk speed is seen, indicating that motor ability is undisturbed. No change in sleep behaviour is detected in female flies.

(Sawamura et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\DISC1^UAS.Tag:HA, Scer\GAL4^Tub.PU has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by Dysb[+]/Dysb^e01028

(Furukubo-Tokunaga et al., 2016)

Other

Statement

Reference

Hsap\DISC1^UAS.Tag:HA, Nrx-1[+]/Nrx-1^d08766 has abnormal locomotor behavior | third instar larval stage phenotype

(Pandey et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\DISC1^UAS.Tag:HA, Scer\GAL4^Tub.PU has NMJ bouton | third instar larval stage phenotype, enhanceable by Dysb[+]/Dysb^e01028

(Furukubo-Tokunaga et al., 2016)

Hsap\DISC1^UAS.Tag:HA, Scer\GAL4^Tub.PU has embryonic/larval neuromuscular junction | third instar larval stage phenotype, enhanceable by Dysb[+]/Dysb^e01028

(Furukubo-Tokunaga et al., 2016)

NOT Enhanced by

Statement

Reference

Hsap\DISC1^UAS.Tag:HA, Scer\GAL4^Tub.PU has axon | third instar larval stage phenotype, non-enhanceable by Dysb[+]/Dysb^e01028

(Furukubo-Tokunaga et al., 2016)

Suppressed by

Statement

Reference

Hsap\DISC1^UAS.Tag:HA, Scer\GAL4^αTub84B.PL has NMJ bouton phenotype, suppressible by Nrx-1[+]/Nrx-1^d08766

(Pandey et al., 2017)

Hsap\DISC1^UAS.Tag:HA, Scer\GAL4^αTub84B.PL has NMJ bouton phenotype, suppressible by Nrx-1^JF02652, Scer\GAL4^αTub84B.PL

(Pandey et al., 2017)

Other

Statement

Reference

Hsap\DISC1^UAS.Tag:HA, Nrx-1[+]/Nrx-1^d08766 has neuromuscular junction | third instar larval stage phenotype

(Pandey et al., 2017)

Hsap\DISC1^UAS.Tag:HA, Nrx-1^JF02652, Scer\GAL4^αTub84B.PL has neuromuscular junction | third instar larval stage phenotype

(Pandey et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The reduced total neuromuscular junction (NMJ) bouton area in third instar larvae expressing Hsap\DISC1^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^αTub84B.PL is rescued by combination with a single copy of Nrx-1^d08766 or co-expression of Nrx-1^JF02652 but this also results in significant decrease in the number of branch points per NMJ, which is not observed in any of the single mutants alone. Number of boutons per NMJ remains comparable to wild-type.

Similarly, Scer\GAL4^αTub84B.PL>Hsap\DISC1^{Scer\UAS.T:Ivir\HA1};Nrx-1^d08766/+ larvae show significant decrease in both average and peak locomotor speed, a phenotype not seen in either of the single mutants. Cell body size of neurons in the ventral nerve cord is not affected and comparable to wild-type.

(Pandey et al., 2017)

The neuromuscular junction bouton phenotype characteristic for third instar larvae expressing Hsap\DISC1^{Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^tub.PU is enhanced by combination with a single copy of the Dysb^e01028 allele: not only is the total bouton areas decreased further, in addition the total number of boutons as well as their individual size is significantly reduced compared to wild-type, whereas the number of axonal branching points remains normal.

(Furukubo-Tokunaga et al., 2016)

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 (2)

Reported As

Symbol Synonym

Hsap\DISC1^{Scer\UAS.T:Ivir\HA1}

Hsap\DISC1^UAS.Tag:HA

Name Synonyms

Secondary FlyBase IDs

References (5)

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