FlyBase Allele Report: Dmel\bsd[1]

General Information

Symbol

Dmel\bsd¹

Species

D. melanogaster

Name

FlyBase ID

FBal0373172

Feature type

allele

Associated gene

Dmel\bsd

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Yang et al., 2022)

Mutagen

ethyl methanesulfonate

(Yang et al., 2022)

Progenitor genotype

Cytology

Description

Amino acid replacement: Q545term.

(Yang et al., 2022)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:12,148,222..12,148,222 [-]

Nucleotide change:

C12148222T

Amino acid change:

Q545term | bsd-PA; Q545term | bsd-PB; Q545term | bsd-PC

Reported amino acid change:

Q545term

Comment:

Site and nature of nucleotide substitution in mutant inferred by FlyBase curator based on reported amino acid change.

(Yang et al., 2022)

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)

Phenotypic Data

Phenotypic Class

lethal - all die during embryonic stage

(Yang et al., 2022)

Phenotype Manifest In

dorsal transverse muscle cell | embryonic stage

(Yang et al., 2022)

embryonic hypodermal muscle cell

(Yang et al., 2022)

embryonic hypodermal muscle cell (with Df(2R)BSC199)

(Yang et al., 2022)

embryonic hypodermal muscle cell (with Df(2R)BSC699)

(Yang et al., 2022)

hypodermal muscle of A1-7 | embryonic stage (with bsd^sj286)

(Ou et al., 2021)

hypodermal muscle of A1-7 | embryonic stage (with bsd^sj362)

(Ou et al., 2021)

microtubule | embryonic stage

(Yang et al., 2022)

muscle cell of lateral oblique muscle 1 | embryonic stage

(Yang et al., 2022)

muscle cell of ventral longitudinal muscle 1 | embryonic stage

(Yang et al., 2022)

muscle cell of ventral transverse muscle 1 | embryonic stage

(Yang et al., 2022)

muscle founder cell

(Yang et al., 2022)

myotube | embryonic stage

(Yang et al., 2022)

ventral acute muscle 2 | embryonic stage (with bsd^sj286)

(Ou et al., 2021)

Detailed Description

Statement

Reference

In bsd¹ homozygous and bsd¹/Df(2R)BSC199 and bsd¹/Df(2R)BSC699 transheterozygous embryos, body wall muscles show pronounced navigational defects. VL1, DT1, LO1 and VT1 muscles are missing, or show attachment or elongation defects. The initial round of myoblast fusion is modestly reduced. The microtubule transition from founder cells to myotubes is delay by over 60min, as compared to controls.

(Yang et al., 2022)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

bsd¹ has dorsal transverse muscle cell | embryonic stage phenotype, non-enhanceable by polo¹/polo¹

(Yang et al., 2022)