FlyBase Allele Report: Dmel\unc-104[P350]

General Information

Symbol

Dmel\unc-104^P350

Species

D. melanogaster

Name

FlyBase ID

FBal0213211

Feature type

allele

Associated gene

Dmel\unc-104

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Dickson, 2007.12.14)

Progenitor genotype

Cytology

Description

Amino acid numbering based on PA isoform.

(Berger et al., 2008)

Amino acid replacement: W606term.

(Barkus et al., 2008, Berger et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:16,759,989..16,759,989 [-]

Nucleotide change:

G16759989A

Amino acid change:

Reported amino acid change:

W606term

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase base on reported amino acid change.

(Barkus et al., 2008, Berger et al., 2008)

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 nervous system disease

CEA

(Li et al., 2017)

CEA with unc-104^bris

(Li et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates Parkinson's disease 8

modeled by Lrrk¹

(Inoshita et al., 2022)

model of nervous system disease

is ameliorated by wnd³

(Li et al., 2017)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | larval stage (with unc-104^O1.2)

(Barkus et al., 2008)

abnormal locomotor behavior | larval stage (with unc-104^O3.1)

(Barkus et al., 2008)

abnormal neuroanatomy | somatic clone | third instar larval stage

(Berger et al., 2008)

lethal - all die before end of larval stage (with unc-104^O3.1)

(Barkus et al., 2008, Barkus et al., 2008)

lethal - all die before end of pupal stage (with unc-104^O1.2)

(Barkus et al., 2008, Barkus et al., 2008)

lethal - all die during embryonic stage

(Barkus et al., 2008)

lethal - all die during embryonic stage (with unc-104^C674)

(Barkus et al., 2008)

lethal - all die during embryonic stage (with unc-104^R767)

(Barkus et al., 2008)

some die during embryonic stage

(Barkus et al., 2008)

some die during embryonic stage (with unc-104^C674)

(Barkus et al., 2008)

some die during embryonic stage (with unc-104^R767)

(Barkus et al., 2008)

some die during pupal stage (with unc-104^O1.2)

(Barkus et al., 2008, Barkus et al., 2008)

some die during third instar larval stage (with unc-104^O3.1)

(Barkus et al., 2008, Barkus et al., 2008)

uncoordinated | larval stage (with unc-104^O1.2)

(Barkus et al., 2008)

uncoordinated | larval stage (with unc-104^O3.1)

(Barkus et al., 2008)

Phenotype Manifest In

bouton (with unc-104^O1.2)

(Barkus et al., 2008)

dense core granule & axon (with unc-104^O1.2)

(Barkus et al., 2008)

dense core granule & axon (with unc-104^O3.1)

(Barkus et al., 2008)

embryonic/larval neuromuscular junction (with unc-104^O1.2)

(Barkus et al., 2008)

synaptic vesicle (with unc-104^O1.2)

(Barkus et al., 2008)

synaptic vesicle (with unc-104^O3.1)

(Barkus et al., 2008)

Detailed Description

Statement

Reference

In unc-104^R757/unc-104^P350 embryos the axonal projections of ap-expressing neurons and the overall organization of the Fas2-immunopositive scaffold are similar to wild-type controls.

(Stratmann et al., 2019)

unc-104^O1.2/unc-104^P350 and unc-104^O3.1/unc-104^P350 larvae are sluggish and show uncoordinated crawling movements, consistent with neuronal defects. However, they show no signs of dystonic posterior paralysis.

The mean number of boutons per muscle 12/13 terminal in unc-104^O1.2/unc-104^P350 larvae is significantly reduced compared to wild type, although no focal axonal swellings are observed. Mutant terminals are smaller than in wild type. Dense-core vesicles are abundant in ventral ganglia, but are greatly reduced in axons and terminals while the distribution of mitochondria is unaffected.

The distribution and movement of neuropeptide vesicles is affected in unc-104^O1.2/unc-104^P350 and unc-104^O1.2/unc-104^P350 larval motorneurons. The anterograde axonal flux and net velocity of dense-core vesicles is reduced relative to wild-type. Anterograde dense-core vesicles have slower forward run velocities and shorter run lengths than in wild type. Retrograde dense-core vesicle run parameters are also reduced. The anterograde flux of synaptic vesicles and mitochondria is reduced but the mean net velocity is not significantly affected. The anterograde synaptic vesicle run velocity is significantly reduced in unc-104^O1.2/unc-104^P350 larvae, and there is a shift from time spent in anterograde runs to time spent paused. In contrast, there are no reduction in anterograde run parameters for mitochondria; in fact, there is a slight increase in run velocity. There are no reductions in retrograde flux or specific retrograde run parameters for synaptic vesicles or mitochondria.

(Barkus et al., 2008)

Photoreceptor axons do not project correctly in the optic lobe of unc-104^P350 eye-brain complexes in third instar larvae, while the photoreceptor cells themselves are appropriately specified.

(Berger et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescued by

unc-104^O1.2/unc-104^P350 is partially rescued by Scer\GAL4^Toll-6-D42/unc-104^{UAS.RVB.GFP(S65T)}

(Barkus et al., 2008)

unc-104^P350/unc-104^O3.1 is partially rescued by Scer\GAL4^Toll-6-D42/unc-104^{UAS.RVB.GFP(S65T)}

(Barkus et al., 2008)

Comments

Expression of unc-104^{Scer\UAS.RVB.T:Avic\GFP-S65T} in motorneurons, under the control of Scer\GAL4^D42, partially rescues the lethality of unc-104^O1.2/unc-104^P350 and unc-104^O3.1/unc-104^P350 mutants. The rescued animals sometimes die at pharate adult stages and mature adults are behaviorally depressed.

(Barkus et al., 2008)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

24630

y¹ w^*; unc-104^P350/CyO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

P350

(Barkus et al., 2008, Berger et al., 2008)

Unc104^p350

(Inoshita et al., 2022)

unc-104^P350

(Stratmann et al., 2019, Li et al., 2017, Barkus et al., 2008, Dickson, 2007.12.14)

unc^P350

(Stratmann et al., 2019)

Name Synonyms

Secondary FlyBase IDs

References (7)

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