FlyBase Allele Report: Hsap\CHMP2B[Intron5.UAS.N.Tag:FLAG]

General Information

Symbol

Hsap\CHMP2B^{Intron5.UAS.N.Tag:FLAG}

Species

H. sapiens

Name

FlyBase ID

FBal0297266

Feature type

allele

Associated gene

Hsap\CHMP2B

Associated Insertion(s)

Carried in Construct

P{UAS-FLAG-CHMP2B.ΔC}

Key Links

Transgenic product class

inframe_deletion

(Cheruiyot et al., 2014)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Cheruiyot et al., 2014)

Mutagen

in vitro construct

(Cheruiyot et al., 2014)

Progenitor genotype

Hsap\CHMP2B^Intron5.UAS

(Cheruiyot et al., 2014)

Carried in construct

P{UAS-FLAG-CHMP2B.ΔC}

Cytology

Description

UASt regulatory sequences drive expression of mutated Hsap\CHMP2B sequences tagged at the N-terminal with Tag:FLAG. One of the Hsap\CHMP2B mutations in the splice acceptor site for the sixth exon (which was originally identified in a Danish family with FTD3), results in truncation of 35 amino acid residues at the carboxyl terminus.

(Cheruiyot et al., 2014)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\CHMP2B

Tagged with

Tag:FLAG

epitope tag

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Cheruiyot et al., 2014)

CHMP2B:p.Met178_Asp213delinsVal

(FlyBase curators, 2019-)

Variants Synonym(s)

CHMP2B:p.Met137_Asp172delinsVal

CHMP2B, IVS5AS, G-C

CHMP2B[Intron5]

CHMP2B:c.532-1G>C

Associated human disease model(s)

frontotemporal dementia and/or amyotrophic lateral sclerosis 7

External database links

ClinVar: 98003

Comments concerning this variant

In human, mutation in splice acceptor site results in truncation of 35 aa at the carboxyl terminus of the protein (pubmed:16041373).

G to C substitution in the acceptor splice site of exon 6; the last 36 amino acids are replaced with a single valine residue from the fifth intron (Krasniak and Ahmed, 2016; pubmed:26972529).

(FlyBase curators, 2019-)

Phenotypic Data

Phenotypic Class

abnormal phototaxis, with Scer\GAL4^ey.PH

(Cheruiyot et al., 2014)

abnormal phototaxis, with Scer\GAL4^GMR.PF

(Cheruiyot et al., 2014)

Phenotype Manifest In

eye, with Scer\GAL4^ey.PH

(Cheruiyot et al., 2014)

eye, with Scer\GAL4^GMR.PF

(Cheruiyot et al., 2014)

ommatidium, with Scer\GAL4^ey.PH

(Cheruiyot et al., 2014)

ommatidium, with Scer\GAL4^GMR.PF

(Cheruiyot et al., 2014)

Detailed Description

Statement

Reference

Expression of Hsap\CHMP2B^{Intron5.Scer\UAS.N.T:Zzzz\FLAG} during early eye specification, under the control of Scer\GAL4^ey.PH, results in severe defects in eye morphology, including enlargement, rippling, protuberances, and reduction/ablation. The enlarged and deformed eye phenotypes are observed more frequently than the reduced/ablated eye phenotype. These flies also exhibit a significantly lower adult eclosion rate (i.e. higher mortality) before adulthood relative to wild-type flies. Longitudinal sections of mutant eyes reveal defects in eye curvature and patterning of the photoreceptor cell nuclei. However, the enlarged eye with additional ommatidia appear to contain normal photoreceptor cells. These flies also display severe defects in phototactic index (i.e. they do not show a strong preference for light).

Expression of Hsap\CHMP2B^{Intron5.Scer\UAS.N.T:Zzzz\FLAG} in the developing eye, under the control of Scer\GAL4^GMR.PF, results in retinal degeneration due to defects in the depth of the retinal layer and the density of photoreceptor cell nuclei as well as reduced rhodopsin content. These flies also display severe defects in phototactic index (i.e. they do not show a strong preference for light).

Hsap\CHMP2B^{Intron5.Scer\UAS.N.T:Zzzz\FLAG} expression, under the control of either Scer\GAL4^ey.PH or Scer\GAL4^GMR.PF results in N accumulation in enlarged endosomes and elevated signaling.

(Cheruiyot et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\CHMP2B^{Intron5.UAS.N.Tag:FLAG}, Scer\GAL4^GMR.PF has abnormal phototaxis phenotype, suppressible by N[+]/N^264-39

(Cheruiyot et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\CHMP2B^{Intron5.UAS.N.Tag:FLAG}, Scer\GAL4^ey.PH has eye phenotype, suppressible by N[+]/N^264-39

(Cheruiyot et al., 2014)

Hsap\CHMP2B^{Intron5.UAS.N.Tag:FLAG}, Scer\GAL4^ey.PH has ommatidium phenotype, suppressible by N[+]/N^264-39

(Cheruiyot et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

A N^264-39 heterozygous background suppresses the eye deformities, eye curvature, patterning of the photoreceptor nuclei later, and phototactic behavior seen in flies expressing Hsap\CHMP2B^{Intron5.Scer\UAS.N.T:Zzzz\FLAG} under the control of Scer\GAL4^ey.PH.

(Cheruiyot et al., 2014)

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\CHMP2B^{Intron5.Scer\UAS.N.T:Zzzz\FLAG}

Hsap\CHMP2B^{Intron5.UAS.N.Tag:FLAG}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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