FlyBase Allele Report: Hsap\ITM2B[23.UAS.Tag:SS(nec)]

General Information

Symbol

Hsap\ITM2B^{23.UAS.Tag:SS(nec)}

Species

H. sapiens

Name

FlyBase ID

FBal0295721

Feature type

allele

Associated gene

Hsap\ITM2B

Associated Insertion(s)

Carried in Construct

M{UAS-hITM2B.23}

Key Links

Transgenic product class

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

Mutagen

in vitro construct

(Marcora et al., 2014)

Progenitor genotype

Carried in construct

M{UAS-hITM2B.23}

Cytology

Description

UASt regulatory sequences drive expression of the 23 C-terminal residues of Hsap\ITM2B (this is a normal product of wild-type Hsap\ITM2B processing). The protein is tagged at the N-terminal with the Tag:SS(nec) signal peptide.

(Marcora et al., 2014)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Tagged with

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 amyloidosis

CEA

(Marcora et al., 2014)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | progressive, with Scer\GAL4^elav.PU

(Marcora et al., 2014)

Phenotype Manifest In

eye | progressive, with Scer\GAL4^GMR.PF

(Marcora et al., 2014)

interommatidial bristle | progressive, with Scer\GAL4^GMR.PF

(Marcora et al., 2014)

ommatidium | progressive, with Scer\GAL4^GMR.PF

(Marcora et al., 2014)

Detailed Description

Statement

Reference

Expression of one or two copies of Hsap\ITM2B^{2-23.Scer\UAS.T:SS-nec} in the eye, under the control of Scer\GAL4^GMR.PF does not result in any toxic effects at 25[o]C.

Expression of Hsap\ITM2B^{2-23.Scer\UAS.T:SS-nec} under the control of Scer\GAL4^GMR.PF results in a few scattered ommatidia of different sizes, with a lower number of interommatidial bristles than in wild-type.

Pan-neural expression of Hsap\APP^{1-42.Scer\UAS.T:SS-nec} under the control of Scer\GAL4^elav.PU does not lead to any climbing defects.

Pan-neuronal expression of Hsap\ITM2B^{2-23.Scer\UAS.T:SS-nec} under the control of Scer\GAL4^elav.PU results in a mild increase in vacuolization in the CNS, quantified as the loss of tissue area in cortical neurons and the neuropil.

(Marcora et al., 2014)

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

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

Hsap\ITM2B^{2-23.Scer\UAS.T:SS-nec}

Hsap\ITM2B^{23.Scer\UAS.T:SS-nec}

Hsap\ITM2B^{23.UAS.Tag:SS(nec)}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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