FlyBase Allele Report: Dmel\bchs[58]

General Information

Symbol

Dmel\bchs⁵⁸

Species

D. melanogaster

Name

FlyBase ID

FBal0193781

Feature type

allele

Associated gene

Dmel\bchs

Associated Insertion(s)

P{EP}EP2299

Carried in Construct

Also Known As

EP(2L)2299, EP(2)2299

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Khodosh et al., 2006)

Progenitor genotype

bchs^EP2299

(Khodosh et al., 2006)

Associated Insertion(s)

P{EP}EP2299

Cytology

Description

Insertion of 3bp and a deletion of 17bp within bchs. This is predicted to result in a frame shift and subsequent stop codon. The P{EP}EP2299 insertion is also present on the chromosome.

(Sim et al., 2019)

The progenitor P{EP}EP2299 insertion is still present on the chromosome.

(Khodosh et al., 2006)

Amino acid replacement: I1830term.

(Khodosh et al., 2006)

Allele components

Component

Use(s)

Inserted element

P{EP}

misexpression element

Regulatory region(s)

UAS

binary expression system - regulatory region

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

MNV

2L:5,915,730..5,915,732 [+]

Comment:

The reported Ile to Stop amino acid change (ATC to TAA, TAG or TGA) requires nucleotide changes at all three positions of the codon. The site of the nucleotide substitution in the mutant was inferred by FlyBase based on the reported amino acid change. It has been annotated as a TAA stop codon, though the identity of the stop codon was not reported.

(Khodosh et al., 2006)

transposable_element_insertion_site

2L:5,907,523..5,907,523 [+]

(Genç et al., 2020, Sim et al., 2019, Khodosh et al., 2006)

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 primary autosomal dominant microcephaly 18

CEA

(Hebbar et al., 2015)

model of autism spectrum disorder

CEA

(Genç et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of primary autosomal dominant microcephaly 18

is exacerbated by CDase^UAS.cAa

(Hebbar et al., 2015)

is ameliorated by CDase^slab-2

(Hebbar et al., 2015)

is exacerbated by lace^k05305

(Hebbar et al., 2015)

is ameliorated by nSMase^EY00448

(Hebbar et al., 2015)

model of autism spectrum disorder

is exacerbated by Pdk1³³

(Genç et al., 2020)

is exacerbated by wrd¹⁰⁴

(Genç et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal immune response | adult stage | recessive

(Liu et al., 2018)

abnormal neuroanatomy | larval stage (with Df(2L)cl7)

(Sim et al., 2019)

abnormal neuroanatomy | third instar larval stage (with Df(2L)cl7)

(Hebbar et al., 2015)

decreased cell number | larval stage (with Df(2L)cl7)

(Sim et al., 2019)

decreased cell number | third instar larval stage (with Df(2L)cl7)

(Hebbar et al., 2015)

Phenotype Manifest In

Detailed Description

Statement

Reference

bchs⁵⁸/Df(2L)cl7 transheterozygous larvae exhibit a decrease in the number of RP2 motor neurons, compared to controls.

(Sim et al., 2019)

AGO2⁴¹⁴ homozygotes show a significant decrease in viral load in the head upon infection with ZIKV, as compared to infected controls.

(Liu et al., 2018)

bchs⁵⁸/Df(2L)cl7 third instar larvae show loss of RP2 and aCC motor neurons; primary neuron cultures show a decrease in the number of autophagosomes per cell (Atg8 puncta).

(Hebbar et al., 2015)

bchs⁵⁸/Df(2L)cl7 and bchs⁵⁸ homozygous mutants display a 15 and 17% reduction in the brain volumes of third instar larvae, respectively.

(Kriston-Vizi et al., 2011)

Expression of bchs⁵⁸ under the control of Scer\GAL4^GMR.PF does not cause the small eye or growth cone phenotypes seen when wild-type bchs is overexpressed.

bchs⁵⁸ mutants show no defects in the larval visual system or embryonic central nervous system.

(Khodosh et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Df(2L)cl7/bchs⁵⁸ has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by lace[+]/lace^k05305

(Hebbar et al., 2015)