FlyBase Allele Report: Dmel\ref(2)P[od3]

General Information

Symbol

Dmel\ref(2)P^od3

Species

D. melanogaster

Name

FlyBase ID

FBal0032568

Feature type

allele

Associated gene

Dmel\ref(2)P

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

diepoxybutane

Nature of the Allele

Allele class

loss of function allele

(Gay and Contamine, 1993)

Mutagen

diepoxybutane

(Gay and Contamine, 1993)

Progenitor genotype

ref(2)P^o

(Gay and Contamine, 1993)

Cytology

Description

Short deletion in the coding region, in exon 2.

(Gay and Contamine, 1993)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2L:19,544,710..19,544,710 [+]

Comment:

Approximate location of small deletion. Leads to nonsense mutation.

(Wyers et al., 1995, Gay and Contamine, 1993, Dezelee et al., 1989)

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 locomotor behavior | adult stage | progressive

(de Castro et al., 2013)

abnormal stress response

(de Castro et al., 2013)

male sterile

(de Castro et al., 2013, Bichon et al., 2001, Gay and Contamine, 1993)

male sterile (with Df(2L)E55)

(Carre-Mlouka et al., 2007)

short lived

(de Castro et al., 2013)

Phenotype Manifest In

indirect flight muscle cell

(de Castro et al., 2013, Pimenta de Castro et al., 2012)

mitochondrial derivative

(de Castro et al., 2013)

mitochondrial derivative (with ref(2)P^od2)

(Politi et al., 2014)

mitochondrion

(de Castro et al., 2013, Pimenta de Castro et al., 2012)

Nebenkern

(de Castro et al., 2013)

Detailed Description

Statement

Reference

ref(2)P^od2/ref(2)P^od3 mutant midgut cells at 2hr after puparium formation show similar amount of mitochondria as in controls.

(Anding et al., 2018)

Embryos derived from ref(2)P^od2/ref(2)P^od3 females show a moderate delay in the clearance of the paternal mitochondrial derivatives compared to wild type.

(Politi et al., 2014)

Early onion-stage spermatids of mutant males have abnormal nebenkern (mitochondrial derivatives) which appear unusually pale. The overall architecture of post-individualisation cysts is completely disorganised in the mutant males. Axonemes are visible, but the mitochondrial derivatives are frequently smaller than normal, containing electron-dense material and showing a striking vacuolisation.

The density of mitochondrial DNA nucleoids in the indirect flight muscle is increased in mutant flies compared to wild type.

Mutants show an increase in mitochondrial DNA heteroplasmy compared to wild type in both 3 day old and 25 day old adults.

Mutant animals show a decrease in lifespan compared to wild type, both on normal food, or on food supplemented with either rotenone or paraquat. Locomotor activity is impaired from a young age and progresses with age.

(de Castro et al., 2013)

Mutants show mitochondrial defects in the indirect flight muscles.

(Pimenta de Castro et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

ref(2)P^od3 has male sterile phenotype, suppressible by mPges2^GlSbH/Su(P)[+]

(Bichon et al., 2001)

ref(2)P^od3 has male sterile phenotype, suppressible by Su(P)[+]/mPges2^TW2

(Bichon et al., 2001)

ref(2)P^od3 has male sterile phenotype, suppressible by Su(P)[+]/mPges2^db

(Bichon et al., 2001)

ref(2)P^od3 has male sterile phenotype, suppressible by mPges2^hd48/Su(P)[+]

(Bichon et al., 2001)

ref(2)P^od3 has male sterile phenotype, suppressible by mPges2^hd5/Su(P)[+]

(Bichon et al., 2001)

ref(2)P^od3 has male sterile phenotype, suppressible by mPges2^pe/Su(P)[+]

(Bichon et al., 2001)

ref(2)P^od3 has male sterile phenotype, suppressible by mPges2^pr26/Su(P)[+]

(Bichon et al., 2001)

ref(2)P^od3 has male sterile phenotype, suppressible by Su(P)[+]/mPges2^TW9

(Bichon et al., 2001)

Phenotype Manifest In

Suppressor of

Statement

Reference

ref(2)P^od3 is a suppressor of indirect flight muscle cell phenotype of Pink1^B9

(de Castro et al., 2013)

ref(2)P^od3 is a suppressor of mitochondrion phenotype of Pink1^B9

(de Castro et al., 2013)

Additional Comments

Genetic Interactions

Statement

Reference

The mitochondrial clustering seen in the indirect flight muscles of Pink1^B9 flies is significantly suppressed by ref(2)P^od3.

Expression of park^Scer\UAS.cGa under the control of Scer\GAL4^da.G32 significantly suppresses the penetrance of the indented thorax phenotype seen in Pink1^B9 mutants. This suppression is reduced if the flies are also carrying ref(2)P^od3.

(de Castro et al., 2013)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

ref(2)P^od3 is rescued by ref(2)P^UAS.Tag:HA/Scer\GAL4^VP16.bam

(de Castro et al., 2013)

ref(2)P^od3/Df(2L)E55 is rescued by ref(2)P^+++.O1.cCMa

(Carre-Mlouka et al., 2007)

ref(2)P^od3/Df(2L)E55 is rescued by ref(2)P^dpp'.Pa.cCMa

(Carre-Mlouka et al., 2007)