FlyBase Allele Report: Dmel\futsch[olk1]

General Information

Symbol

Dmel\futsch^olk1

Species

D. melanogaster

Name

FlyBase ID

FBal0215636

Feature type

allele

Associated gene

Dmel\futsch

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

Nucleotide substitution: G4783T.

(Bettencourt da Cruz et al., 2005)

Amino acid replacement: E?term.

(Bettencourt da Cruz et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:1,437,378..1,437,378 [+]

Nucleotide change:

G1437378T

Reported nucleotide change:

G4783T

Amino acid change:

E1661term | futsch-PC; E1661term | futsch-PE; E1661term | futsch-PF

Reported amino acid change:

E?term

Comment:

The amino acid position of the mutation was inferred from it's reported nucleotide position within a prior (R3.2) futsch gene annotation in which the protein was predicted to be 5412aa. The nonsense mutation in a Glu codon shortens the protein to roughly one third of the length as reported.

(Bettencourt da Cruz 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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates neurodegenerative disease

modeled by tau^GD8682

(Bolkan and Kretzschmar, 2014)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal learning | adult stage

(Bettencourt da Cruz et al., 2005)

abnormal neuroanatomy | adult stage

(Wentzell et al., 2012)

abnormal smell perception | adult stage

(Bettencourt da Cruz et al., 2005)

increased cell death | adult stage

(Bettencourt da Cruz et al., 2005)

Phenotype Manifest In

adult brain

(Wentzell et al., 2012)

antennal lobe

(Bettencourt da Cruz et al., 2005)

calyx of adult mushroom body

(Bettencourt da Cruz et al., 2005)

microtubule & antennal lobe

(Bettencourt da Cruz et al., 2005)

mitochondrion & neuron

(Bettencourt da Cruz et al., 2005)

neuropil

(Bettencourt da Cruz et al., 2005)

protocerebrum

(Bettencourt da Cruz et al., 2005)

Detailed Description

Statement

Reference

3-day old futsch^olk1 mutant flies do not exhibit any retinal degeneration.

(Bolkan and Kretzschmar, 2014)

The brains of 6 day old futsch^olk1 mutant flies contain small vacuoles in the mechanosensory region of the antennal lobes. These increase dramatically with age.

(Wentzell et al., 2012)

futsch^olk1 mutants show progressive neurodegeneration with age. At 1-day-old, the brains of futsch^olk1 show no abnormalities compared with wild-type controls. At 5 to 6 days of age, vacuoles start to appear in the calyces of futsch^olk1 brains. After 10 days, vacuoles can be detected in the antennal lobes and in the mechanosensory neuropil of the ventrolateral protocerebrum. At 20 days, there are also vacuoles in the lateral horn of the protocerebrum. Electron microscopy shows that there is degeneration of both nerve fibers and neuronal cell bodies in these regions.

In futsch^olk1 flies, the projection neurons appear to develop normally and make appropriate connections in their target areas. At 10 days of age, the projection neurons have started to degenerate within the antennal lobes. After 23 days, most or all of the projection neurons have undergone cell death. The ring neurons of the central complex and the Kenyon cells do not undergo such cell death.

Although 3-day-old futsch^olk1 flies do not show signs of neuronal degeneration, they display significant impairment in their olfactory learning. A gradual age-dependent decline of learning occurs, with futsch^olk1 flies showing 10% of the learning displayed by controls at day 8. The reactivity of the mutant flies to the olfactory stimuli benzaldehyde and octanol is significantly reduced in 8-day-old flies.

The antennal lobes of 14-day-old futsch^olk1 mutants show an increase in the number of microtubules compared to controls, leading to reduced spacing between microtubules in this area. Neurons cultured from futsch^olk1 pupae show similar patterns of outgrowth and branching to those cultured from wild-type pupae. The axonal transport of mitochondria is affected in the futsch^olk1 neurons, with fewer mitochondria changing position or showing active movement within the neurites compared to controls.

(Bettencourt da Cruz et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

futsch^olk1 is an enhancer of abnormal neuroanatomy phenotype of Scer\GAL4^GMR.PU, tau^GD8682

(Bolkan and Kretzschmar, 2014)

futsch^olk1 is an enhancer of lethal phenotype of Scer\GAL4^elav.PU, tau^GD8682

(Bolkan and Kretzschmar, 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

futsch^olk1 has neuropil phenotype, suppressible | partially by Fmr1^unspecified/Fmr1[+]

(Bettencourt da Cruz et al., 2005)

futsch^olk1 has microtubule & antennal lobe phenotype, suppressible | partially by Fmr1^unspecified/Fmr1[+]

(Bettencourt da Cruz et al., 2005)

futsch^olk1 has neuropil phenotype, suppressible | partially by Scer\GAL4^elav-C155/tau^UASp.mGFP6

(Bettencourt da Cruz et al., 2005)

futsch^olk1 has neuropil phenotype, suppressible | partially by Scer\GAL4^elav-C155/Btau\MAPT^UAS.cKa

(Bettencourt da Cruz et al., 2005)

Enhancer of

Statement

Reference

futsch^olk1 is an enhancer of retina phenotype of Scer\GAL4^GMR.PU, tau^GD8682

(Bolkan and Kretzschmar, 2014)

futsch^olk1 is an enhancer of lamina phenotype of Scer\GAL4^GMR.PU, tau^GD8682

(Bolkan and Kretzschmar, 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of futsch^olk1 enhances the retinal degeneration and vacuolization of the lamina seen when tau^GD8682 is expressed under the control of Scer\GAL4^GMR.PU.

(Bolkan and Kretzschmar, 2014)

Expression of Appl^{s.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav-C155 suppresses the vacuolisation seen in futsch^olk1 mutant 6 day old flies.

(Wentzell et al., 2012)

In futsch^olk1; Fmr1^unspecified/+ flies, the size of vacuoles in the mechanosensory neuropil of the ventrolateral protocerebrum is reduced by approximately one third compared to futsch^olk1 mutants of the same age. futsch^olk1; Fmr1^unspecified/+ mutants also show a suppression of the abnormal microtubule antennal lobe pattern seen in futsch^olk1 flies.

Flies that express tau^{Scer\UAS.P\T.T:Avic\GFP-m6} under the control of Scer\GAL4^elav-C155 show a 25% reduction in the size of vacuoles that develop in the mechanosensory neuropil compared to futsch^olk1 flies that do not express the transgene.

(Bettencourt da Cruz et al., 2005)

Xenogenetic Interactions

Statement

Reference

Flies that express Btau\MAPT^Scer\UAS.cKa under the control of Scer\GAL4^elav-C155 show a 25% reduction in the size of vacuoles that develop in the mechanosensory neuropil compared to futsch^olk1 flies that do not express the transgene.

(Bettencourt da Cruz et al., 2005)

Complementation and Rescue Data

Fails to complement

futsch^N94

(Bettencourt da Cruz et al., 2005)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

futsch^olk1

(Bolkan and Kretzschmar, 2014, Wentzell et al., 2012, Bettencourt da Cruz et al., 2005)

futsch^olk

(Wentzell et al., 2012)

olk¹

(Bolkan and Kretzschmar, 2014)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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