FB2024_03 , released June 25, 2024
Allele: Dmel\ptcD130
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General Information
Symbol
Dmel\ptcD130
Species
D. melanogaster
Name
FlyBase ID
FBal0295839
Feature type
allele
Associated gene
Dmel\ptc
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Butí et al., 2014)
Progenitor genotype
Cytology
Description

Amino acid replacement: Q395term.

(Butí et al., 2014)

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

(Butí et al., 2014)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:8,661,342..8,661,342 [+]
Nucleotide change:

C8661342T

Reported nucleotide change:

C?T

Amino acid change:

Q395term | ptc-PA

Reported amino acid change:

Q395term

(Butí et al., 2014)
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
      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.

      (Butí et al., 2014)
      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[+]

      (Butí et al., 2014)
      NOT suppressed by
      Statement
      Reference

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

      (Butí et al., 2014)

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

      (Butí et al., 2014)

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

      (Butí et al., 2014)

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

      (Butí et al., 2014)
      Suppressor of
      Statement
      Reference

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

      (Butí et al., 2014)
      Other
      Statement
      Reference

      hh21, ptcD130 has abnormal cell migration phenotype

      (Butí et al., 2014)
      Phenotype Manifest In
      Suppressed by
      Statement
      Reference

      ptcD130 has embryonic/larval tracheal system phenotype, suppressible by sr155/sr[+]

      (Butí et al., 2014)

      ptcD130 has embryonic/larval ganglionic tracheal branch phenotype, suppressible by sr155/sr[+]

      (Butí et al., 2014)
      NOT suppressed by
      Suppressor of
      Statement
      Reference

      ptc[+]/ptcD130 is a suppressor of embryonic/larval ganglionic tracheal branch phenotype of bnl00857

      (Butí et al., 2014)

      ptc[+]/ptcD130 is a suppressor of embryonic/larval tracheal system phenotype of bnl00857

      (Butí et al., 2014)
      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.

      (Butí et al., 2014)
      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
      ptcD130
      (Butí et al., 2014)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)