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General Information
Symbol
Dmel\ptcD130
Species
D. melanogaster
Name
FlyBase ID
FBal0295839
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

C8661342T

Reported nucleotide change:

C?T

Amino acid change:

Q395term | ptc-PA

Reported amino acid change:

Q395term

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: Q395term.

The premature stop codon is just before a sterol-sensing domain.

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
Phenotype Manifest In
Detailed Description
Statement
Reference

In ptcD130, ptc16/ptcD130 and ptcD130/Df(2R)ED1742 mutant embryos, ganglionic branches do not extend into the ventral nerve cord. Defects in the dorsal branch, elongation and in dorsal trunk thickness and convolution are also observed. In addition, the visceral branches are very often misplaced, localising more ventrally than in the wild-type.

Tracheal development begins normally in ptcD130 mutant embryos. Placodes are correctly positioned and the first steps of cell migration occur normally. The initial steps of tracheal development are apparently regular until embryonic stage 12. At this point, the first defects in ganglionic branch extension are observed. In mutant stage 15 embryos, the anterior lateral trunk and ganglionic branch fail to separate. Despite this, ptcD130 mutant embryos display the same anterior and posterior lateral trunk/ganglionic branch extensions as in wild-type, by the end of embryogenesis.

From placode stages, ptcD130 mutants show a lower number of tracheal cells than wild-type embryos. On average, 63 cells are found in each tracheal metamere 5 in stage 13 embryos in ptcD130 mutants, in comparison with 97 cells in wild-type embryos.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement
Reference

ptcD130 has abnormal cell migration phenotype, suppressible by sr155/sr[+]

NOT suppressed by
Statement
Reference

ptcD130 has abnormal cell migration phenotype, non-suppressible by bs03267

ptcD130 has abnormal cell migration phenotype, non-suppressible by sr155

ptcD130 has abnormal cell migration phenotype, non-suppressible by hh21

ptcD130 has abnormal cell migration phenotype, non-suppressible by Df(3L)H99

Suppressor of
Statement
Reference

ptc[+]/ptcD130 is a suppressor of abnormal cell migration phenotype of bnl00857

Other
Statement
Reference
Phenotype Manifest In
Suppressed by
Statement
Reference
NOT suppressed by
Suppressor of
Statement
Reference
Other
Additional Comments
Genetic Interactions
Statement
Reference

ptcD130/Df(3L)H99 mutant embryos maintain the same phenotype as ptcD130 homozygotes, with tracheal ganglionic branches failing to extend into the ventral nerve cord, despite the absence of cell death.

ptcD130 mutant ganglionic branch cells are still unable to migrate towards the ventral nerve cord, in a bs03267 mutant background.

A ptcD130 heterozygous mutant background suppresses the tracheal ganglionic branch migration defects seen in bnl00857 mutants.

In ptcD130/hh21 double mutant embryos, tracheal ganglionic branch migration is disrupted as it is in ptcD130 single mutants.

Removing one copy of sr in a ptcD130 background rescues the migration of many ganglionic branches, whereas double mutant embryos exhibit impaired ganglionic branch migration.

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 (1)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (1)