FlyBase Allele Report: Dmel\DAT[fmn]

General Information

Symbol

Dmel\DAT^fmn

Species

D. melanogaster

Name

fumin

FlyBase ID

FBal0197506

Feature type

allele

Associated gene

Dmel\DAT

Associated Insertion(s)

roo{}DAT^fmn

Carried in Construct

Also Known As

fmn, dDAT^fmn, dDAT KO, DAT^fumin

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

spontaneous

Nature of the Allele

Allele class

Mutagen

spontaneous

(Kume et al., 2005)

Progenitor genotype

Associated Insertion(s)

roo{}DAT^fmn

Cytology

Description

As a result of an insertion of the 5' portion of a roo transposon into intron 6, there is no splicing at the exon 6-intron 6 junction. The insertion is located 43bp downstream of the splice donor junction, and results in transcriptional termination and polyadenylation of the DAT mRNA within the inserted segment. As a result of an in-frame stop codon in intron 6, the DAT protein is truncated at amino acid 343 in DAT^fmn, whereas wild-type DAT is 632 amino acids in length.

(Kume et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

transposable_element_insertion_site

2R:16,560,330..16,560,330

(Bhat et al., 2021, Wiggin et al., 2020, Kasture et al., 2016, Pizzo et al., 2013, Kume et al., 2005)

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 autism spectrum disorder

CEA with Hsap\SLC6A3^ΔN336.UAS

(Campbell et al., 2019)

CEA

(Cartier et al., 2015)

model of classic dopamine transporter deficiency syndrome

CEC with Hsap\SLC6A3^R445C.UAS

(Aguilar et al., 2021)

CEA with Hsap\SLC6A3^R445C.UAS

(Aguilar et al., 2021)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of autism spectrum disorder

is ameliorated by Hsap\SLC6A3^UAS.cHa

(Cartier et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Expressing Hsap\SLC6A3^R445C.UAS under the control of Scer\GAL4^ple.PF in DAT^fmn homozygotes leads to a decrease in spontaneous walking activity and decreased movement vigor; increased in flight initiation duration; and increase in grooming time. There is a decrease in the number of PPL1 DA neurons.

(Aguilar et al., 2021)

DAT^fmn mutants adults display increase in baseline activity but the frequency of high-intensity activity bursts is the same as in wild-type controls.

Compared to wild-type control, the DAT^fmn mutants show significant decrease in overall grooming frequency after 15 min period of acclimatization in the experimental arena. They also display lower frequency in head/eye grooming right after introduction to the experimental chamber although the overall grooming frequency during this initial period is not significantly changed. The duration of activity bouts representing grooming however is significantly shorter both during the initial period and after acclimatization.

(King et al., 2016)

DAT^fmn/DAT^fmn mutant flies exhibit elevated locomotor activity and reduced duration of sustained rest, as compared to wild type.

(Landgraf et al., 2016)

Sensitivity to ethanol-induced sedation is not affected in DAT^fmn mutant adults.

(Petruccelli et al., 2016)

DAT^fmn mutant heterozygotes show a reduction in daily sleep.

(Afonso et al., 2015)

Odor-evoked neurophysiology responses (measured by "sytGCaMP" fluorescence) across the gamma Kenyon cells is significantly altered in DAT^fmn mutants compared to controls.

(Cohn et al., 2015)

Both both young (1 day) and mature (7-8 day) DAT^fmn mutant flies show reduced sleep compared to controls but the increased amount of sleep normally seen in young flies is still observed.

(Kayser et al., 2014)

Sleep latency is normal in mutant flies.

(Liu et al., 2014)

DAT^fmn flies are hyperactive.

(Hamilton et al., 2013)

Mutant flies have normal mushroom body morphology.

Mutant flies have reduced sleep duration compared to controls.

(Pfeiffenberger and Allada, 2012)

DAT^fmn homozygous mutant flies are grossly normal for motor behaviours and exhibit a normal olfactory startle response. Ethanol-induced hyperactivity is markedly reduced in these mutants.

(Kong et al., 2010)

DAT^fmn mutants are active almost continuously throughout the day (compared to wild-type flies). Although DAT^fmn flies display high levels of locomotor activity at all times of the cycle, they nonetheless show rhythmic circadian changes in activity levels for the first two days of DD. However, free-running activity rhythms are not as robust as those seen in the wild-type because of the relatively high baseline level of activity in DAT^fmn mutants observable at all times of subjective day.

On average, DAT^fmn mutants show a twofold to threefold increase in total daily activity in LD and DD compared with control flies.

DAT^fmn mutants exhibit significantly less rest than control flies. However, the activity index, defined as the total daily activity divided by the length of the daily active period, is similar in DAT^fmn flies and control flies. This inidctaes that DAT^fmn mutants are hyperactive becuase they have a longer period of daily activity rather than being more active during any given activity period. This increased activity is a result of decreased rest period duration and increased lengths of activity in DAT^fmn mutants, both in LD and DD conditions.

Both male and female DAT^fmn mutants exhibit normal lifespans compared with genetic background controls. Furthermore, the mutant has no obvious morphological, developmental, or fertility phenotypes.

DAT^fmn flies are hyper-responsive to mechanical stimuli compared with control flies, with the greatest difference observed at the weakest stimuli tested. Only 15% of control flies respond to mild stimuli, but in the sames, 49% of DAT^fmn mutants exhibit a response. A similar differential effect is found with moderate stimuli (responses by 48% of control and 88% of DAT^fmn), whereas all mutant and control flies respond to strong stimuli. In addition, the response of DAT^fmn flies is lenghtened relative to controls.

DAT^fmn flies deprived of rest for 2, 4, or 6 hours during the subjective night exhibit an attenuated rest rebound, indicating that altered synaptic dopamine has perturbed the homeostatic regulation of the rest/activity profile.

(Kume et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

DAT^fmn has abnormal locomotor behavior | adult stage phenotype, non-enhanceable by per⁰¹/per⁰¹

(Landgraf et al., 2016)

DAT^fmn has abnormal sleep | dominant phenotype, non-enhanceable by CycA^C8LR1/CycA[+]

(Afonso et al., 2015)

Suppressed by

Statement

Reference

DAT^fmn has increased rate of movement | adult stage phenotype, suppressible by Hsap\SLC6A3^UAS.cHa/Scer\GAL4^ple.PF

(Hamilton et al., 2014)

DAT^fmn has increased rate of movement | adult stage phenotype, suppressible by Scer\GAL4^ple.PF/Hsap\SLC6A3^KA.UAS

(Hamilton et al., 2014)

DAT^fmn has abnormal locomotor behavior phenotype, suppressible | partially by Hsap\SLC6A3^UAS.cHa/Scer\GAL4^ple.PF

(Hamilton et al., 2013)

NOT suppressed by

Statement

Reference

DAT^fmn has abnormal locomotor behavior | adult stage phenotype, non-suppressible by per⁰¹/per⁰¹

(Landgraf et al., 2016)

NOT Suppressor of

Statement

Reference

DAT^fmn is a non-suppressor of chemical resistant | adult stage phenotype of DopEcR^GAL4

(Petruccelli et al., 2016)

Other

Statement

Reference

DAT^fmn, Hsap\SLC6A3^R445C.UAS, Scer\GAL4^ple.PF has abnormal locomotor behavior | adult stage phenotype

(Aguilar et al., 2021)

DAT^fmn, Hsap\SLC6A3^R445C.UAS, Scer\GAL4^ple.PF has abnormal flight phenotype

(Aguilar et al., 2021)

DAT^fmn, Hsap\SLC6A3^R445C.UAS, Scer\GAL4^ple.PF has abnormal grooming behavior phenotype

(Aguilar et al., 2021)

DAT^fmn, Hsap\SLC6A3^R445C.UAS, Scer\GAL4^ple.PF has decreased cell number | adult stage phenotype

(Aguilar et al., 2021)

DAT^fmn, Gabat^PL00338 has lethal phenotype

(Chen et al., 2015)

DAT^fmn, Gabat^f01602 has abnormal sleep phenotype

(Chen et al., 2015)

Phenotype Manifest In

Other

Statement

Reference

DAT^fmn, Hsap\SLC6A3^R445C.UAS, Scer\GAL4^ple.PF has dopaminergic PPL1 neuron | adult stage phenotype

(Aguilar et al., 2021)

Additional Comments

Genetic Interactions

Statement

Reference

The presence of per⁰¹/per⁰¹ does not significantly change the elevation in locomotor activity seen in DAT^fmn mutants.

(Landgraf et al., 2016)

The increased resistance to ethanol-induced sedation characteristic for DopEcR^GAL4 homozygous adults is weakly suppressed by combination with Dop1R1^PL00420.

(Petruccelli et al., 2016)

One copy of CycA^C8LR1 does not enhance the sleep defects seen in DAT^fmn mutant heterozygotes.

(Afonso et al., 2015)

DAT^fmn/DAT^fmn;Gabat^PL00338/Gabat^PL00338 double mutants are homozygous lethal.

DAT^fmn/DAT^fmn;Gabat^f01602/Gabat^f01602 double mutants sleep significantly more than DAT^fmn/DAT^fmn flies; this increase in sleep is mostly during the day time and sleep in the double mutants is more fragmented than in DAT^fmn/DAT^fmn flies (largely due to increases in bout number). Gabat^f01602/Gabat^f01602 rescues sleep latency defects DAT^fmn/DAT^fmn flies, though not other aspects of sleep architecture.

(Chen et al., 2015)

DAT^fmn/+ ; wake^GS17103/+ and DAT^fmn/+ ; Rdl¹/+ double heterozygotes show no significant change in sleep latency compared to controls.

(Liu et al., 2014)

DAT^fmn inc^f00285 and DAT^fmn inc^mw double mutants do not sleep significantly less than the single mutants.

(Pfeiffenberger and Allada, 2012)

Double heterozygous Torsin^KO13/+; DAT^fmn/+ female larvae show a similar peristaltic frequency as either single heterozygote, and the DAT^fmnallele has no effect on the mobility of Torsin^KO13/Y males.

(Wakabayashi-Ito et al., 2011)

Xenogenetic Interactions

Statement

Reference

The hyperactivity characteristic for DAT^fmn adult mutants is suppressed by expression of either Hsap\SLC6A3^Scer\UAS.cHa or Hsap\SLC6A3^KA.Scer\UAS under the control of Scer\GAL4^ple.PF. The circadian rhythm of the locomotor activity of DAT^fmn flies is not perturbed by expression of either of the transgenes.

(Hamilton et al., 2014)

Selective expression of Hsap\SLC6A3^Scer\UAS.cHa in DA neurons (under the control of Scer\GAL4^ple.PF) significantly reduces the hyperactivity found in DAT^fmn flies.

Selective expression of Hsap\SLC6A3^{T356M.Scer\UAS} in DA neurons (under the control of Scer\GAL4^ple.PF) reduces the hyperactivity found in DAT^fmn flies, although to a much lesser extent than through expression of Hsap\SLC6A3^Scer\UAS.cHa.

(Hamilton et al., 2013)

Complementation and Rescue Data

Partially rescued by

DAT^fmn is partially rescued by Scer\GAL4^elav-C155/DAT^UAS.cKa

(Kume et al., 2005)

Comments

Expression of DAT^Scer\UAS.cKa pan-neuronally, under the control of Scer\GAL4^elav-C155 partially rescues the DAT^fmn phenotype (i.e. they exhibit decreased daily activity and prolonged sleep periods).

(Kume et al., 2005)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (10)

Reported As

Symbol Synonym

DAT-KO

(Kasture et al., 2016)

DAT^fmn

(Peng et al., 2024, Li et al., 2023, Li et al., 2023, Aguilar et al., 2021, Belovich et al., 2021, Herborg et al., 2021, Öztürk-Çolak et al., 2020, Campbell et al., 2019, Landgraf et al., 2016, Petruccelli et al., 2016, Afonso et al., 2015, Cartier et al., 2015, Hamilton et al., 2014, Hamilton et al., 2013, Kottler et al., 2013, Pfeiffenberger and Allada, 2012, Kong et al., 2010)

DAT^fumin

(Li et al., 2023, Wakabayashi-Ito et al., 2011, Wu et al., 2010)

dDAT KO

(Belovich et al., 2021, Campbell et al., 2019, Hamilton et al., 2013)

dDAT-KO

(Herborg et al., 2021)

dDAT^fmn

(Karam et al., 2022, Karam et al., 2022, Freyberg et al., 2016, Pizzo et al., 2013)

dat^fmn

(Wiggin et al., 2020, Chen et al., 2015)

fmn

(Bhat et al., 2021, Fagan et al., 2021, Li et al., 2021, Huang et al., 2020, Vaccaro et al., 2020, Asjad et al., 2017, King et al., 2016, Liu et al., 2014, Kume et al., 2005)

fumin

(Kasture et al., 2016)

ΔDAT

(Cohn et al., 2015)

Name Synonyms

fumin

(Axelrod et al., 2023, Asjad et al., 2017, Kayser et al., 2014, Shi et al., 2014, Kottler et al., 2013, Wu et al., 2008)

Secondary FlyBase IDs

References (40)

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