FlyBase Allele Report: Dmel\Pdxk[2]

General Information

Symbol

Dmel\Pdxk²

Species

D. melanogaster

Name

FlyBase ID

FBal0009704

Feature type

allele

Associated gene

Dmel\Pdxk

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

hypomorphic allele - genetic evidence

Mutagen

diepoxybutane

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Marzio et al., 2014)

Mutagen

diepoxybutane

Progenitor genotype

Cytology

Description

Pdxk² carries a T to C transition at nucleotide 700 that leads to a phenylalanine to serine substitution in the active site of Pdxk.

(Marzio et al., 2014)

Amino acid replacement: F?S.

(Marzio et al., 2014)

Nucleotide substitution: T700C.

(Marzio et al., 2014)

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 ( 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

abnormal DNA repair | larval stage (with Pdxk¹)

(Marzio et al., 2014)

lethal | recessive

Phenotype Manifest In

Detailed Description

Statement

Reference

Mitotic cells from colchicine-treated Pdxk¹ mutant brains display ~6% chromosome aberrations (CABs), compared to ~0,5% in wild type cells. A significantly higher proportion of CABs is seen in Pdxk²/Df(3L)AC1 mutant cells.

Mitotic cells from colchicine-treated Pdxk¹/Pdxk² mutant brains display ~6% chromosome aberrations (CABs), compared to ~0,5% in wild type cells.

Dissecting the brains of Pdxk² mutant third instar larvae and incubating them in medium supplemented with 1% glucose causes a substantial increase in the number of chromosome aberrations (CABs) compared with controls incubated in saline. An even greater increase in CAB frequency is seen when larval brains are incubated in saline supplemented with 1% fructose. Neither sucrose or fructose increases CAB frequency in wild type flies. The effects of both sugars are completely suppressed when 1 mM PLP is added to the medium.

(Marzio et al., 2014)

Hemizygotes die during the pupal to adult stages.

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

Expression of Hsap\PDXK^{tub.T:Ivir\HA1} rescues the high frequency of chromosome aberrations compared to controls seen in Pdxk² mutants when exposed to colchicine.

(Marzio et al., 2014)

Complementation and Rescue Data

Rescued by

Pdxk² is rescued by Pdxk^Tub.Tag:HA

(Marzio et al., 2014)

Comments

Expression of Pdxk^{tub.T:Ivir\HA1} rescues the high frequency of chromosome aberrations compared to controls seen in Pdxk² mutants when exposed to colchicine.

(Marzio et al., 2014)

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

2461

Pdxk² kni^ri-1 p^p/TM3, Sb¹ Ser¹

Kyoto

107345

Pdxk² kni^ri-1 p^p/TM3, Sb¹ Ser¹

Notes on Origin