FlyBase Allele Report: Dmel\ph-d[505]

General Information

Symbol

Dmel\ph-d⁵⁰⁵

Species

D. melanogaster

Name

FlyBase ID

FBal0013759

Feature type

allele

Associated gene

Dmel\ph-d

Associated Insertion(s)

Carried in Construct

Also Known As

ph⁵⁰⁵, ph⁰

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Jacobs, 1993, Smouse and Perrimon, 1990, Dura et al., 1987)

loss of function allele

(Shao et al., 1999)

Mutagen

ethyl methanesulfonate

(Dura et al., 1987)

Progenitor genotype

ph-d²⁰⁹

Cytology

Description

Amino acid replacement: Q398term.

(Feng et al., 2011)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:2,119,879..2,119,879 [-]

Nucleotide change:

C2119879T

Amino acid change:

Q575term | ph-d-PA; Q397term | ph-d-PB

Reported amino acid change:

Q398term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change. The mutant strain carries two nonsense mutations, one in Gln398 of ph-d and one ine Gln749 of ph-p.

(Feng et al., 2011)

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 cancer

CEA with ph-p⁵⁰⁵

(Jiang et al., 2018, Classen et al., 2009)

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

lethal

lethal - all die during embryonic stage

(Dura et al., 1987)

some die during embryonic stage

(Dura et al., 1987)

viable

(Fauvarque et al., 1995)

Phenotype Manifest In

cuticle & denticle

(Smouse and Perrimon, 1990)

cuticle | ventral

(Smouse and Perrimon, 1990)

epidermis | cell autonomous | somatic clone

(Smouse and Perrimon, 1990)

Detailed Description

Statement

Reference

Does not affect the position effect variegation (PEV) at the w locus caused by In(1)w^m4 or PEV at the B locus caused by Dp(1;Y)B^SCV.

(Sinclair et al., 1998)

Mutation changes the level of w expression in ph-p^lac+3 flies; eye colour is darker.

(Fauvarque et al., 1995)

Ectopic acridine orange and nile blue staining in ventral epidermis.

(Abrams et al., 1993)

Lack longitudinal tracts but longitudinal glia differentiate though fail to form an orientated scaffold.

(Jacobs, 1993)

Most of the ventral cuticle is missing in hemizygous embryos, and there are no denticle bands on the small region of cuticle present. CNS neurons are organised into small ganglion-like clusters of cells, with the axons bundled together at the centre of the cluster. ph-d⁵⁰⁵ neurons cultured in vitro extend normal axons. ph-d⁵⁰⁵, stg⁴ double mutants have a viable epidermis which is able to secrete cuticle. ph-d⁵⁰⁵ embryos derived from homozygous dl¹ females have an intact tube of epidermis similar to that of embryos derived from dl¹ females that are wild-type for ph-d. Cell death is seen at the anterior and posterior termini of the doubly mutant embryos. Virtually all epidermal cells die in ph-d⁵⁰⁵ embryos derived from Tl³.

(Smouse and Perrimon, 1990)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has lethal | embryonic stage phenotype

(Feng et al., 2011)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has visible | somatic clone phenotype

(Feng et al., 2011)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has neoplasia | somatic clone phenotype

(Classen et al., 2009)

en⁵⁴, ph-d⁵⁰⁵ has visible | dominant phenotype

(Maschat et al., 1998)

Phenotype Manifest In

Other

Statement

Reference

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has eye disc | somatic clone phenotype

(Feng et al., 2011, Classen et al., 2009)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has eye | somatic clone phenotype

(Feng et al., 2011)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has wing phenotype

(Randsholt et al., 2000)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has leg | ectopic phenotype

(Randsholt et al., 2000)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has wing vein | ectopic phenotype

(Randsholt et al., 2000)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has leg phenotype

(Randsholt et al., 2000)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has wing | anterior phenotype

(Randsholt et al., 2000)

ph-d⁵⁰⁵, ph-p⁵⁰⁵ has ventral denticle belt phenotype

(Shao et al., 1999)

en⁵⁴, ph-d⁵⁰⁵ has wing vein L4 phenotype

(Maschat et al., 1998)

Additional Comments

Genetic Interactions

Statement

Reference

ph-d⁵⁰⁵ ph-p⁵⁰⁵ hemizygous males die as embryos, soon after germ band retraction has finished.

ph-d⁵⁰⁵ ph-p⁵⁰⁵ mutant clones in mosaic eye discs overproliferate. The effect of the clones is both autonomous and non-autonomous.

(Feng et al., 2011)

Imaginal discs composed predominantly of ph-d⁵⁰⁵ ph-p⁵⁰⁵ cells (generated using the FLP/cell-lethal method) are strongly overgrown. The mutant tissue shows defects in epithelial organisation and differentiation.

(Classen et al., 2009)

Irradiated ph-p⁵⁰⁵/+. ph-d⁵⁰⁵/+ animals show vein duplications in anterior territories and vesicles of tissue trapped between the wing surfaces in both anterior and posterior compartments of the wing. they also exhibit abnormal anterior wing margins, and bifurcated anterior wing compartments. Pattern bifurcation and duplication are also seen in the leg, associated with trapped vesicles within the leg.

(Randsholt et al., 2000)

25% of ph-d⁵⁰⁵/+; en⁵⁴/+ double heterozygotes have a gap in the fourth wing vein at 25^oC.

(Maschat et al., 1998)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescued by

ph-d⁵⁰⁵ is partially rescued by ph-d^+tSa

(Randsholt et al., 2000)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Associated with: ph-p⁵⁰⁵.

(Feng et al., 2011)

Induced with: ph-p⁵⁰⁵.

(Shao et al., 1999)

The "ph[505]" chromosome has mutations in both ph-p and ph-d.

(Feng et al., 2011)

Comments

The ph-d⁵⁰⁵ chromosome is null for both ph-d and ph-p.

(Shao et al., 1999)

Mosaic analysis indicates that the epidermal cell death caused by ph-d⁵⁰⁵ is autonomous. ph-d⁵⁰⁵ neurons cultured in vitro extend normal axons.

(Smouse and Perrimon, 1990)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

ph-d⁵⁰⁵

ph⁰

(Chanas et al., 2004, Perrin et al., 2003, Randsholt et al., 2000)

ph⁵⁰⁵

(Jiang et al., 2018, Feng et al., 2011, Chanas and Maschat, 2005, Chanas et al., 2004, Randsholt et al., 2000, Docquier et al., 1999, Shao et al., 1999, Maschat et al., 1998, Sinclair et al., 1998, Fauvarque et al., 1995, McKeon et al., 1994, Jacobs, 1993, Smouse and Perrimon, 1990, Dura et al., 1987)

Name Synonyms

Secondary FlyBase IDs

References (18)

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