FlyBase Allele Report: Dmel\Tbce[Z0241]

General Information

Symbol

Dmel\Tbce^Z0241

Species

D. melanogaster

Name

FlyBase ID

FBal0241479

Feature type

allele

Associated gene

Dmel\Tbce

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Jin et al., 2009)

Progenitor genotype

Cytology

Description

Amino acid replacement: W45term.

(Jin et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:6,043,130..6,043,130 [+]

Nucleotide change:

G6043130A

Amino acid change:

W45term | Tbce-PB; W45term | Tbce-PC

Reported amino acid change:

W45term

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase base on reported amino acid change.

(Jin et al., 2009)

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 hypoparathyroidism-retardation-dysmorphism syndrome

CEA with Tbce^LH15

(Métivier et al., 2021)

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 | embryonic stage

(Jin et al., 2009)

lethal - all die during embryonic stage (with Tbce^LH15)

(Métivier et al., 2021, Jin et al., 2009)

some die during embryonic stage (with Tbce^LH15)

(Jin et al., 2009)

Phenotype Manifest In

larval longitudinal connective

(Jin et al., 2009)

larval ventral nerve cord

(Jin et al., 2009)

microtubule (with Df(2R)ED1484)

(Jin et al., 2009)

Detailed Description

Statement

Reference

The microtubule network is greatly decreased in tbce^Z0241/Df(2R)ED1484 first instar larvae, with fewer and shorter microtubule fibres in muscle cells as compared with the dense and evenly distributed microtubule network in controls.

Hemizygous embryos have longitudinal axon bundles that cross the midline in the ventral nerve cord. Interrupted axon bundles are also seen.

(Jin et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference