FlyBase Allele Report: Dmel\Ube3a[35]

General Information

Symbol

Dmel\Ube3a³⁵

Species

D. melanogaster

Name

FlyBase ID

FBal0320364

Feature type

allele

Associated gene

Dmel\Ube3a

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Li et al., 2016, Gossan et al., 2014)

Mutagen

P-element activity

(Li et al., 2016)

Progenitor genotype

P{EP}Ube3a^EP3214

(Li et al., 2016)

Cytology

Description

Deletion within Ube3a. Generated by imprecise excision of P{EP}Ube3a^EP3214.

(Li et al., 2016)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3L:11,208,563..11,210,495 [-]

Comment:

Approximate boundaries of a deletion in Ube3a resulting from the imprecise excision of P{EP}Ube3a^EP3214. The precise boundaries were not reported and were estimated from Fig. 1.

(Li et al., 2016)

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 Angelman syndrome

CEA

(Li et al., 2016)

CEA with Ube3a⁵⁴⁹

(Li et al., 2016)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Angelman syndrome

is ameliorated by tkv⁸

(Li et al., 2016)

is ameliorated by tkv^k16713

(Li et al., 2016)

is ameliorated by Mad¹²

(Li et al., 2016)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | third instar larval stage

(Li et al., 2016)

abnormal neuroanatomy | third instar larval stage (with Df(3L)ED4470)

(Li et al., 2016)

abnormal neuroanatomy | third instar larval stage (with Ube3a^15B)

(Li et al., 2016)

abnormal neuroanatomy | third instar larval stage (with Ube3a⁵⁴⁹)

(Li et al., 2016)

abnormal neurophysiology | third instar larval stage

(Li et al., 2016)

fertile

(Li et al., 2016)

fertile (with Df(3L)ED4470)

(Li et al., 2016)

viable

(Li et al., 2016)

viable (with Df(3L)ED4470)

(Li et al., 2016)

Phenotype Manifest In

Detailed Description

Statement

Reference

Ube3a³⁵/Ube3a³⁵ or Ube3a³⁵/Ube3a^15B third instar larvae have a significant increase in total boutons (and satellite boutons) at the neuromuscular junction (NMJ - muscle 4, segments A2 and A3), compared to controls; Ube3a³⁵/Ube3a⁵⁴⁹ or Ube3a³⁵/Df(3L)ED4470 larvae also have an increase in total boutons at the NMJ than wild type.

Active zones, subsynaptic reticulum and the mean density of synaptic vesicles near the active zone appear normal at Ube3a³⁵/Ube3a³⁵ third instar larval NMJ, though mutants contain significantly more enlarged vesicles over 60nm in diameter (cisternae, presumably endosomes) per bouton. Ube3a³⁵/Ube3a³⁵ larvae show similar excitatory junctional potential (EJP) amplitude and miniature EJP amplitude and frequency (basal transmission) to wild type at the NMJ. During intense stimulation (10Hz in the presence of 0.5mM extracellular Ca[2+]), EJP amplitudes in Ube3a³⁵/Ube3a³⁵ mutants decline much faster and remain further decreased compared to the initial response, compared to wild type; mutants show endocytosis defects, with significantly reduced uptake of FM1-43.

(Li et al., 2016)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Ube3a³⁵ has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by tkv⁸/tkv^k16713

(Li et al., 2016)

Ube3a³⁵ has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by tkv⁸/tkv[+]

(Li et al., 2016)

Ube3a³⁵ has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Mad¹²/Mad[+]

(Li et al., 2016)

Ube3a³⁵ has abnormal neurophysiology | third instar larval stage phenotype, suppressible by tkv⁸/tkv[+]

(Li et al., 2016)

NOT Suppressor of

Statement

Reference

Ube3a³⁵/Ube3a³⁵ is a non-suppressor of abnormal neuroanatomy | third instar larval stage phenotype of tkv⁸/tkv^k16713

(Li et al., 2016)

Phenotype Manifest In

Suppressed by

Statement

Reference

Ube3a³⁵ has NMJ bouton | increased number | third instar larval stage phenotype, suppressible by tkv⁸/tkv^k16713

(Li et al., 2016)

Ube3a³⁵ has NMJ bouton | increased number | third instar larval stage phenotype, suppressible by tkv⁸/tkv[+]

(Li et al., 2016)

Ube3a³⁵ has NMJ bouton | increased number | third instar larval stage phenotype, suppressible by Mad¹²/Mad[+]

(Li et al., 2016)

NOT Suppressor of

Statement

Reference

Ube3a³⁵/Ube3a³⁵ is a non-suppressor of NMJ bouton | third instar larval stage phenotype of tkv⁸/tkv^k16713

(Li et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

tkv⁸/tkv^k16713;Ube3a³⁵/Ube3a³⁵ third instar larvae have a significant decrease in total boutons (and satellite boutons) at the neuromuscular junction, compared to wild type (similar to tkv⁸/tkv^k16713, suppressing the increase seen in Ube3a³⁵/Ube3a³⁵ mutants). tkv⁸/+ or Mad¹²/+ suppresses the increase in total boutons (and satellite boutons) at the neuromuscular junction in Ube3a³⁵/Ube3a³⁵ third instar larvae. tkv⁸/+ suppresses reduced EJP amplitudes under intense stimulation and endocytosis defects in Ube3a³⁵/Ube3a³⁵ mutants.

(Li et al., 2016)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Ube3a³⁵ is rescued by Ube3a^+t13

(Li et al., 2016)

Not rescued by

Ube3a³⁵ is not rescued by Ube3a^tC941A

(Li et al., 2016)

Comments

Ube3a^+t13 (but not Ube3a^tC941A) restores total bouton number and satellite boutons to wild type levels at the neuromuscular junction in Ube3a³⁵/Ube3a³⁵ third instar larvae. Ube3a^+t13 also rescues endocytosis defects in Ube3a³⁵/Ube3a³⁵ larvae.

(Li et al., 2016)

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

DUBE3A³⁵

(Gossan et al., 2014)

Ube3a³⁵

ube3a³⁵

(Li et al., 2016)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

Open Close