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

General Information

Symbol

Dmel\unc-104^bris

Species

D. melanogaster

Name

FlyBase ID

FBal0194504

Feature type

allele

Associated gene

Dmel\unc-104

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Kern et al., 2013)

Mutagen

ethyl methanesulfonate

(Medina et al., 2006)

Progenitor genotype

Cytology

Description

Amino acid replacement: R561H.

(Kern et al., 2013)

Nucleotide substitution: G?A.

(Kern et al., 2013)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:16,760,121..16,760,121 [-]

Nucleotide change:

G16760121A

Reported nucleotide change:

G?A

Amino acid change:

Reported amino acid change:

R561H

(Kern et al., 2013)

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

DOES NOT model hereditary spastic paraplegia

CEA

(Kern et al., 2013)

model of nervous system disease

CEA

(Zhang et al., 2016)

CEA with unc-104^P350

(Li et al., 2017)

CEA with unc-104^bris

(Li et al., 2017)

CEA with unc-104^O3.1

(Li et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of nervous system disease

is ameliorated by Rab3^UAS.cGa

(Zhang et al., 2016)

is ameliorated by brp^UAS.cWa

(Zhang et al., 2016)

is exacerbated by brp^RNAi.C.UAS

(Zhang et al., 2016)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

bouton | third instar larval stage

(Kern et al., 2013)

dendrite & filopodium & larva

(Medina et al., 2006)

dorsal multidendritic neuron ddaA & filopodium

(Medina et al., 2006)

embryonic/larval neuromuscular junction | third instar larval stage

(Kern et al., 2013)

filopodium | increased number | third instar larval stage

(Kern et al., 2013)

larval dorsal multidendritic neuron ddaA | third instar larval stage

(Kern et al., 2013)

neuromuscular junction | third instar larval stage

(Zhang et al., 2017)

postsynaptic density | third instar larval stage

(Kern et al., 2013)

subsynaptic reticulum | third instar larval stage

(Zhang et al., 2017)

Detailed Description

Statement

Reference

unc-104^bris mutant larvae show impaired synaptic transmission in neuromuscular junctions (NMJs): reduced evoked and miniature evoked junction potential (EJP and mEJP, respectively) amplitudes and mEJP frequency as well as decreased quantal content. The mutant NMJs also display reduced glutamate receptor (GluR) field size with altered GluR type composition: irrespective of their size, synapses of unc-104^bris mutant larvae contain less IIA-type receptors compared to controls and the ultrastructure of the subsynaptic reticulum membrane is disrupted.

(Zhang et al., 2017)

Many post-synaptic densities are unapposed by pre-synaptic brp-positive active zones at synaptic boutons at NMJ 4 of unc-104^bris mid-third instar larvae. While dendritic branching of the neuron ddaA is unaffected, greatly increased filopodia form at distal secondary branches.

Initial neurite outgrowth in unc-104^bris/unc-104^d11204 embryos is unimpaired: no gross morphological alterations of the peripheral sensory neuron system (dendrites/axons) are observed in stage 16 embryos.

Neither homozygous nor unc-104^bris/unc-104^d11204 larvae display dystonic posterior paralysis.

Both small and large unc-104^bris larvae are slower than control larvae. unc-104^bris/unc-104^d11204 larvae are almost paralysed and display a body posture defect.

No signs of synapse retraction are observed in unc-104^bris larvae, though subsynaptic reticulum development may be delayed.

Neuromuscular junctions of unc-104^bris/unc-104^d11204 larvae are longer but not larger than those in controls, and mutant NMJs consist of more but smaller synaptic boutons than controls.

(Kern et al., 2013)

Homozygotes show defects in larval dendrite development; mutants show normal dendrite outgrowth, branching and actin localisation, but there is a dramatic increase in the number of filopodia.

(Medina et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

unc-104^bris/unc-104^d11204 has abnormal neuroanatomy | third instar larval stage phenotype, non-enhanceable by Scer\GAL4^elav-C155/brp^RNAi.B.UAS

(Kern et al., 2013)

unc-104^bris/unc-104^d11204 has abnormal neuroanatomy | third instar larval stage phenotype, non-enhanceable by Scer\GAL4^elav-C155/brp^RNAi.C.UAS

(Kern et al., 2013)

NOT suppressed by

Statement

Reference

unc-104^bris/unc-104^d11204 has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Scer\GAL4^elav-C155/brp^UAS.cWa

(Kern et al., 2013)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

unc-104^bris/unc-104^d11204 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-enhanceable by Scer\GAL4^elav-C155/brp^RNAi.B.UAS

(Kern et al., 2013)

unc-104^bris/unc-104^d11204 has bouton | third instar larval stage phenotype, non-enhanceable by Scer\GAL4^elav-C155/brp^RNAi.B.UAS

(Kern et al., 2013)

unc-104^bris/unc-104^d11204 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-enhanceable by Scer\GAL4^elav-C155/brp^RNAi.C.UAS

(Kern et al., 2013)

unc-104^bris/unc-104^d11204 has bouton | third instar larval stage phenotype, non-enhanceable by Scer\GAL4^elav-C155/brp^RNAi.C.UAS

(Kern et al., 2013)

NOT suppressed by

Statement

Reference

unc-104^bris/unc-104^d11204 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-suppressible by Scer\GAL4^elav-C155/brp^UAS.cWa

(Kern et al., 2013)

unc-104^bris/unc-104^d11204 has bouton | third instar larval stage phenotype, non-suppressible by Scer\GAL4^elav-C155/brp^UAS.cWa

(Kern et al., 2013)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

unc-104^bris is rescued by Scer\GAL4^elav.PU/unc-104^UAS.mCherry

(Zhang et al., 2017)

unc-104^bris/unc-104^d11204 is rescued by Scer\GAL4^elav-C155/unc-104^UAS.mCherry

(Kern et al., 2013)

Partially rescued by

unc-104^bris/unc-104^d11204 is partially rescued by Scer\GAL4^elav-C155/unc-104^UAS.mCherry

(Kern et al., 2013)

Not rescued by

unc-104^bris is not rescued by Scer\GAL4^how-24B/unc-104^UAS.mCherry

(Zhang et al., 2017)

Comments

Expression of unc-104^{Scer\UAS.T:Disc\RFP-mCherry} under the control of Scer\GAL4^elav.PU rescues the impaired synaptic transmission as well as the defects in the ultrastructure of the subsynaptic reticulum membrane in unc-104^bris mutant larval neuromuscular junctions (NMJs). Expression driven by Scer\GAL4^how-24B fails to improve the disrupted subsynaptic reticulum membrane morphology in the mutant NMJs.

(Zhang et al., 2017)

Scer\GAL4^elav-C155-mediated expression of unc-104^{Scer\UAS.T:Disc\RFP-mCherry} rescues the lethality, impaired locomotion, and defective body posture of unc-104^bris/unc-104^d11204 larvae. The defective apposition of active zones and post-synaptic densities of unc-104^bris/unc-104^d11204 larvae is partially rescued. The neuromuscular junction morphology defects of unc-104^bris/unc-104^d11204 larvae are rescued by Scer\GAL4^elav-C155-mediated, but not Scer\GAL4^how-24B-mediated expression of unc-104^{Scer\UAS.T:Disc\RFP-mCherry}.

(Kern et al., 2013)

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

bris

(Medina et al., 2006)

bris¹

unc-104^bris

(Li et al., 2017, Zhang et al., 2017, Zhang et al., 2016, Kern et al., 2013)

Name Synonyms

Secondary FlyBase IDs

References (5)

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