FlyBase Allele Report: Dmel\pn[2]

General Information

Symbol

Dmel\pn²

Species

D. melanogaster

Name

FlyBase ID

FBal0013873

Feature type

allele

Associated gene

Dmel\pn

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

X ray

(Teng et al., 1991)

irradiation

(Simmons et al., 1994)

Progenitor genotype

Cytology

Description

Insertion of AAAG after nucleotide 1092 that throws the sequence out of frame introducing 11 novel amino acids and then a stop codon.

(Timmons and Shearn, 1996)

Mutation producing a frameshift, resulting in a truncated protein.

(Simmons et al., 1994)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

insertion

X:2,182,459..2,182,460 [+]

Inserted_sequence:

AAAG

Comment:

Insertion of AAAG after nucleotide 1092 of the pn CDS that throws the sequence out of frame introducing 11 novel amino acids and then a stop codon.

(Timmons and Shearn, 1996)

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 circadian behavior | adult stage

(Chen et al., 2019)

abnormal eye color

(Chen et al., 2019, Zhang et al., 2015, Timmons and Shearn, 1996, Teng et al., 1991)

abnormal locomotor rhythm | adult stage

(Chen et al., 2019)

visible | recessive

Phenotype Manifest In

eye

(Zhang et al., 2015)

pigment cell

(Timmons and Shearn, 1996, Teng et al., 1991)

retina | progressive

(Zhang et al., 2015)

Detailed Description

Statement

Reference

pn² adults exhibit brownish-purple eyes and a significant reduction in the amplitude of locomotor activity rhythm (circadian rhythm) under constant darkness while they exhibit normal circadian periods and percentages of rhythmic flies under constant darkness; normal bimodal activity patterns and anticipation under light-dark conditions when compared to controls.

(Chen et al., 2019)

pn² eyes have reduced red pigments and show a minor morphogenesis defect. Old flies show severe retinal degeneration.

(Zhang et al., 2015)

Suppresses hop^Tum lethality to same extent as awd^K.

(Zinyk et al., 1993)

Eyes contain 18% normal red pigment and 114% normal brown pigment.

(Nolte, 1959)

Malpighian tubule colour: wild-type.

(Beadle, 1937)

Eye colour: light brownish-red.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

awd^K, pn² has lethal phenotype

(Timmons and Shearn, 1996)

awd^K, pn² has lethal | second instar larval stage phenotype

(Sturtevant, 1955)

Phenotype Manifest In

NOT suppressed by

Statement

Reference

pn² has phenotype, non-suppressible by su(Hw)²

(Lindsley and Grell, 1968)

Other

Statement

Reference

Scer\GAL4^GMR.PU, TFAM^JF02307, pn² has eye phenotype

(Zhang et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

pn² is rescued by pn^hs.GFP

(Zhang et al., 2015)

pn² is rescued by pn^hs.3

(Timmons and Shearn, 1996)

Not rescued by

pn² is not rescued by pn^hs.4

(Timmons and Shearn, 1996)

Comments

pn^{hs.T:Avic\GFP} rescues the pn² eye colour phenotype and prevents retinal degeneration.

(Zhang et al., 2015)

pn^hs.4 fails to rescue the lethal interaction of pn² with awd^K. pn^hs.3 does rescue the lethality (with or without heat shock) and male progeny are recovered. Eye colour of P{HS-PN⁺4} transformants remains pn even after several heat pulses, P{HS-PN⁺3} transformants (without heat shock or with one or numerous heat shocks) exhibit wild-type colouration.