FlyBase Allele Report: Dmel\ptc[14]

General Information

Symbol

Dmel\ptc¹⁴

Species

D. melanogaster

Name

FlyBase ID

FBal0028504

Feature type

allele

Associated gene

Dmel\ptc

Associated Insertion(s)

Carried in Construct

Also Known As

ptc^IIR87

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Hidalgo and Ingham, 1990, Phillips et al., 1990, Tearle and Nusslein-Volhard, 1987)

Progenitor genotype

Cytology

Description

Extracellular hh protein internalisation fails in ptc¹⁴ mutants, but this does not block hh signaling.

(Torroja et al., 2004)

Amino acid replacement: L83Q.

(Strutt et al., 2001)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:8,660,070..8,660,070 [+]

Nucleotide change:

T8660070A

Amino acid change:

L83Q | ptc-PA

Reported amino acid change:

L83Q

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Strutt et al., 2001)

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 (with ptc^hdl)

(Gazi et al., 2009)

abnormal size | adult stage (with ptc^tuf-1)

(Thomas and Ingham, 2003)

lethal - all die during embryonic stage

(Phillips et al., 1990)

some die during embryonic stage

(Phillips et al., 1990)

viable (with ptc^hdl)

(Gazi et al., 2009)

Phenotype Manifest In

1st posterior cell

(Strutt et al., 2001)

adult external head (with ptc^hdl)

(Gazi et al., 2009)

adult head bristle (with ptc^tuf-1)

(Thomas and Ingham, 2003)

adult head bristle | ectopic (with ptc^tuf-1)

(Thomas and Ingham, 2003)

adult head capsule (with ptc^hdl)

(Shyamala and Bhat, 2002)

costal cell

(Strutt et al., 2001)

eye (with ptc^tuf-1)

(Thomas and Ingham, 2003)

frons (with ptc^tuf-1)

(Thomas and Ingham, 2003)

fronto-orbital plate (with ptc^tuf-1)

(Thomas and Ingham, 2003)

ocellar triangle (with ptc^tuf-1)

(Thomas and Ingham, 2003)

ommatidium (with ptc^tuf-1)

(Thomas and Ingham, 2003)

Detailed Description

Statement

Reference

ptc^hdl animals transheterozygous for ptc¹⁴ are viable with lowly penetrant headcase defects and show lowly penetrant locomotor defects in adulthood.

(Gazi et al., 2009)

ptc¹⁴/ptc^tuf-1 have small, rough eyes. Flies carrying ptc^tuf-1 in trans to ptc¹⁴ have mildly reduced, rough eyes and an enlarged head vertex. Around 30% also have one or two missing or misplaced head bristles.

(Thomas and Ingham, 2003)

50% of ptc^hdl/ptc¹⁴ transheterozygotes show head capsule defects.

(Shyamala and Bhat, 2002)

homozygous and hemizygous mutants display distortion in the costal cell and an increase in the distance between the L3 and L4 wing veins.

(Strutt et al., 2001)

weak allele homozygous lethal

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressor of

Statement

Reference

ptc¹⁴/ptc^tuf-1 is a suppressor of eye phenotype of hh^bar3

(Thomas and Ingham, 2003)

Additional Comments

Genetic Interactions

Statement

Reference

The cuticle phenotype of a ptc¹⁴; hh^ts2 double homozygote is like that of a hh^ts2 homozygote, rather than a ptc¹⁴ homozygote.

(Torroja et al., 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Ptc¹⁴

(Casali, 2010)

ptc¹⁴

(Casali, 2010)

ptc^IIR87

(Gazi et al., 2009, Shyamala and Bhat, 2002, Hidalgo and Ingham, 1990)

ptc^IIR

(Phillips et al., 1990, Tearle and Nusslein-Volhard, 1987)

Name Synonyms

Secondary FlyBase IDs

References (10)

Report Sections

Open Close