FlyBase Allele Report: Dmel\mdy[QX25]

General Information

Symbol

Dmel\mdy^QX25

Species

D. melanogaster

Name

FlyBase ID

FBal0032113

Feature type

allele

Associated gene

Dmel\mdy

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

(Schupbach and Wieschaus, 1991)

Progenitor genotype

Cytology

Description

Amino acid replacement: W499term.

(Buszczak et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:16,826,514..16,826,514 [+]

Nucleotide change:

G16826514A

Amino acid change:

W499term | mdy-PA; W499term | mdy-PB; W499term | mdy-PC; W499term | mdy-PE

Reported amino acid change:

W499term

Comment:

G to A nucleotide change at the second or third position of the wild type Trp codon leads to a nonsense mutation (exact site of mutation unspecified). The mutation was annotated at the second base of the codon.

(Buszczak et al., 2002)

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 ( 1 )

Disease

Interaction

References

ameliorates congenital generalized lipodystrophy

modeled by Seipin^null

(Tian et al., 2011)

exacerbates congenital generalized lipodystrophy

modeled by Seipin^null

(Tian et al., 2011)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

mdy^QX25 Seipin^null double mutant larvae show greatly reduced fat body lipid storage compared to either single mutant (an exacerbation of the lipodystrophy model in adipose tissue). However, the ectopic lipid storage phenotype seen in non-adipose tissue in Seipin^null single mutants is fully suppressed by mdy^QX25 (a suppression of the lipodystrophy model in non-adipose tissue).

(Tian et al., 2011)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

female sterile

(Schupbach and Wieschaus, 1991)

female sterile (with mdy^EP2592)

(Buszczak et al., 2002)

female sterile (with mdy^k03902)

(Buszczak et al., 2002)

female sterile | recessive

(Buszczak et al., 2002)

Phenotype Manifest In

egg chamber

(Giedt et al., 2023, Buszczak et al., 2002)

nurse cell & nucleus

(Buszczak et al., 2002)

Detailed Description

Statement

Reference

mdy^QX25 mutant fat bodies don't show significant defects in lipid storage.

(Tian et al., 2011)

Mutant flies have a reduced fat content compared to controls. The fat body cells have small lipid droplets.

(Beller et al., 2010)

Nurse cell nuclei begin to break down at stage 9 (rather than 10B as in wild type). Cytoplasmic actin bundles are present prior to egg chamber degeneration, at stage 8 and 9 (as opposed to stage 10 in the wild type). TUNEL staining shows that programmed cell death begins prematurely, at stage 9 of oogenesis. Nurse cells do not contract and push their contents into the oocyte, as wild type nurse cells would.

(Buszczak et al., 2002)

Egg chambers begin to arrest at stage 8 or 9 and begin to degenerate.

(Schupbach and Wieschaus, 1991)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference