FlyBase Allele Report: Hsap\UBE3A[UAS.iso1.cCa]

General Information

Symbol

Hsap\UBE3A^UAS.iso1.cCa

Species

H. sapiens

Name

FlyBase ID

FBal0316240

Feature type

allele

Associated gene

Hsap\UBE3A

Associated Insertion(s)

Carried in Construct

P{UAS-UBE3A.iso1.C}

Key Links

Transgenic product class

cDNA

(Chakraborty et al., 2015)

wild_type

(Chakraborty et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

cDNA

(Chakraborty et al., 2015)

wild_type

(Chakraborty et al., 2015)

Mutagen

in vitro construct

(Chakraborty et al., 2015)

Progenitor genotype

Carried in construct

P{UAS-UBE3A.iso1.C}

Cytology

Description

UASt regulatory sequences drive expression of a 2558bp cDNA corresponding to isoform 1 of Hsap\UBE3A.

(Chakraborty et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\UBE3A

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 intellectual disability

CEA

(Chakraborty et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates intellectual disability

modeled by Ube3a^unspecified

(Chakraborty et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal learning | adult stage, with Scer\GAL4^elav.PU

(Chakraborty et al., 2015)

Phenotype Manifest In

Detailed Description

Statement

Reference

Adults expressing Hsap\UBE3A^{Scer\UAS.iso1.cCa} under the control of Scer\GAL4^elav.PU show learning defects (significantly reduced performance in a aversive phototaxis suppression assay compared to controls).

(Chakraborty et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Hsap\UBE3A^UAS.iso1.cCa/Scer\GAL4^elav.PU is a suppressor of abnormal learning | dominant | maternal effect | adult stage phenotype of Ube3a^unspecified

(Chakraborty et al., 2015)

Hsap\UBE3A^UAS.iso1.cCa/Scer\GAL4^elav.PU is a suppressor of abnormal learning | dominant | maternal effect | larval stage phenotype of Ube3a^unspecified

(Chakraborty et al., 2015)

NOT Suppressor of

Statement

Reference

Hsap\UBE3A^UAS.iso1.cCa/Scer\GAL4^Tab2-201Y is a non-suppressor of abnormal learning | dominant | maternal effect | adult stage phenotype of Ube3a^unspecified

(Chakraborty et al., 2015)

Hsap\UBE3A^UAS.iso1.cCa/Scer\GAL4^ey-OK107 is a non-suppressor of abnormal learning | dominant | maternal effect | adult stage phenotype of Ube3a^unspecified

(Chakraborty et al., 2015)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\UBE3A^{Scer\UAS.iso1.cCa} under the control of Scer\GAL4^elav.PU rescues the learning defects seen in larvae and adults which have a maternally inherited null mutation of Ube3a.

Expression of Hsap\UBE3A^{Scer\UAS.iso1.cCa} under the control of either Scer\GAL4^Tab2-201Y or Scer\GAL4^ey-OK107 does not rescue the learning defects seen in adults which have a maternally inherited null mutation of Ube3a.

(Chakraborty et al., 2015)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\UBE3A^{Scer\UAS.iso1.cCa}

Hsap\UBE3A^UAS.iso1.cCa

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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