FlyBase Allele Report: Hsap\CHMP2B[Intron5.13xlexAop]

General Information

Symbol

Hsap\CHMP2B^{Intron5.13xlexAop}

Species

H. sapiens

Name

FlyBase ID

FBal0367197

Feature type

allele

Associated gene

Hsap\CHMP2B

Associated Insertion(s)

Carried in Construct

P{13xlexAop-hCHMP2B.ΔC}

Key Links

Transgenic product class

inframe_deletion

(Fort-Aznar et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Fort-Aznar et al., 2020)

Mutagen

in vitro construct

(Fort-Aznar et al., 2020)

Progenitor genotype

Carried in construct

P{13xlexAop-hCHMP2B.ΔC}

Cytology

Description

13xlexAop regulatory sequences drive expression of a C-terminally truncated form of Hsap\CHMP2B that is associated with frontotemporal dementia.

(Fort-Aznar et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

lexAop

binary expression system - regulatory region

Encoded product / tool

Hsap\CHMP2B

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 frontotemporal dementia and/or amyotrophic lateral sclerosis 7

CEA

(Fort-Aznar et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of frontotemporal dementia and/or amyotrophic lateral sclerosis 7

is exacerbated by BoYb^HMJ23886

(Fort-Aznar et al., 2020)

is exacerbated by SoYb^G19414

(Fort-Aznar et al., 2020)

is exacerbated by piwi¹

(Fort-Aznar et al., 2020)

is exacerbated by piwi²

(Fort-Aznar et al., 2020)

is exacerbated by piwi^HMS00606

(Fort-Aznar et al., 2020)

is exacerbated by vret^HP36220

(Fort-Aznar et al., 2020)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Fort-Aznar et al., 2020)

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

Phenotype Manifest In

Detailed Description

Statement

Reference

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 (1)

Reported As

Symbol Synonym

Hsap\CHMP2B^{Intron5.13xlexAop}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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