FlyBase Allele Report: Dmel\ptc[9]

General Information

Symbol

Dmel\ptc⁹

Species

D. melanogaster

Name

FlyBase ID

FBal0028499

Feature type

allele

Associated gene

Associated Insertion(s)

Carried in Construct

Also Known As

ptc^IN108, ptc^IN, ptc^1N108

Key Links

Genomic Maps

GBrowse JBrowse

Allele class

loss of function allele

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Hooper, 1994, Schuske et al., 1994)

loss of function allele

(Bhat and Schedl, 1997, Buttgereit, 1996)

Mutagen

ethyl methanesulfonate

(Preat et al., 1993, Hidalgo and Ingham, 1990, Phillips et al., 1990, Tearle and Nusslein-Volhard, 1987)

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

2R:8,662,585..8,662,585 [+]

Nucleotide change:

G8662585A

Amino acid change:

S809N | ptc-PA

Reported amino acid change:

S809N

Comment:

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

(Strutt et al., 2001)

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

Cytology

Nature of the lesion

Statement

Reference

Amino acid replacement: S809N.

(Strutt et al., 2001)

0.2 kb insertion at position +165.

(Hooper and Scott, 1989)

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

1st posterior cell

(Strutt et al., 2001)

abdominal 1 ventral denticle belt

(Bejsovec and Wieschaus, 1993, Sampedro and Guerrero, 1991)

abdominal 2 ventral denticle belt

(Bejsovec and Wieschaus, 1993, Sampedro and Guerrero, 1991)

abdominal 3 ventral denticle belt

(Bejsovec and Wieschaus, 1993, Sampedro and Guerrero, 1991)

abdominal 4 ventral denticle belt

(Bejsovec and Wieschaus, 1993, Sampedro and Guerrero, 1991)

abdominal 5 ventral denticle belt

(Bejsovec and Wieschaus, 1993, Sampedro and Guerrero, 1991)

abdominal 6 ventral denticle belt

(Bejsovec and Wieschaus, 1993, Sampedro and Guerrero, 1991)

abdominal 7 ventral denticle belt

(Bejsovec and Wieschaus, 1993, Sampedro and Guerrero, 1991)

abdominal 8 ventral denticle belt

(Bejsovec and Wieschaus, 1993, Sampedro and Guerrero, 1991)

antenna (with ptc^559.1)

(Thomas and Ingham, 2003)

antenna (with ptc^tuf-1)

(Thomas and Ingham, 2003)

apodeme | ectopic | embryonic stage

(Buttgereit, 1996)

(Chang et al., 2001)

(Strutt et al., 2001, Capdevila et al., 1994)

(Gallet et al., 2000, Alexandre et al., 1999)

denticle belt | embryonic stage

(Yao et al., 2006)

(Epps et al., 1997)

(Epps et al., 1997)

dorsal thick hair

(Bokor and DiNardo, 1996)

embryonic/first instar larval cuticle

(Motzny and Holmgren, 1995)

embryonic epidermis

(Canamasas et al., 2003, Sanson et al., 1999)

embryonic gnathal segment

(Rusch and Kaufman, 2000)

(Sampedro and Guerrero, 1991)

embryonic optic lobe primordium

(Chang et al., 2001)

embryonic somatic muscle | lateral

(Buttgereit, 1996)

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)

genital disc primordium

(Chen et al., 2005)

head bristle (with ptc^559.1)

(Thomas and Ingham, 2003)

head bristle (with ptc^tuf-1)

(Thomas and Ingham, 2003)

head bristle | ectopic (with ptc^559.1)

(Thomas and Ingham, 2003)

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

(Thomas and Ingham, 2003)

head capsule (with ptc^hdl)

(Shyamala and Bhat, 2002)

head capsule & cuticle | ectopic (with ptc^tuf-1)

(Thomas and Ingham, 2003)

(Simcox et al., 1989)

(Capdevila et al., 1994)

mesothoracic ventral denticle belt

(Sampedro and Guerrero, 1991)

metathoracic ventral denticle belt

(Sampedro and Guerrero, 1991)

neuroblast NB4-2

(Duman-Scheel et al., 1997)

neuron | adult stage (with ptc^hdl)

(Gazi et al., 2009)

ocellar triangle (with ptc^tuf-1)

(Thomas and Ingham, 2003)

ocellus | ectopic (with ptc^tuf-1)

(Thomas and Ingham, 2003)

ommatidium (with ptc^tuf-1)

(Thomas and Ingham, 2003)

prothoracic ventral denticle belt

(Sampedro and Guerrero, 1991)

RP2 motor neuron

(Bhat and Schedl, 1997, Duman-Scheel et al., 1997)

scutellar bristle

(Capdevila et al., 1994)

(Capdevila et al., 1994)

wing (with ptc^H84)

(Xia et al., 2012)

wing blade anterior compartment

(Capdevila et al., 1994)

(Capdevila et al., 1994)

Detailed Description

Statement

Reference

ptc^hdl animals transheterozygous for ptc⁹ are viable with lowly penetrant headcase defects and show lowly penetrant locomotor defects in adulthood.

Brains from ptc^hdl/ptc⁹ transheterozygous adults with severe locomotor defects show presence of lamellar inclusions and/or membranous material in neurons that are rarely present in either wild-type, young mutants or older mutant flies that do not display locomotor defects.

(Gazi et al., 2009)

ptc⁹ embryos show a mirror-image duplication of the anterior portion of each denticle belt.

(Yao et al., 2006)

Stage 15 ptc⁹ embryos have 34 genital disc precursor cells, while wild type embryos have only 22 at this stage. There is no evidence of additional cell proliferation in the ptc⁹ genital disc precursor cells.

(Chen et al., 2005)

Homozygous embryos have epidermal defects.

(Canamasas et al., 2003)

Mutant animals exhibit separated nerve roots and dendritic fields in the embryonic motor system, as in wild type.

(Landgraf et al., 2003)

All flies carrying ptc^tuf-1 in trans to ptc⁹ have severely reduced, rough eyes, a highly enlarged head vertex (ocellar triangle, fronto-orbital plate and frons), outgrowths of head cuticle and large numbers of missing, misplaced or ectopic head bristles. ptc^559.1/ptc⁹ flies have normal sized eyes and head vertex and a low incidence of ectopic or misplaced head bristles. They also occasionally lack one or both antennae.

(Thomas and Ingham, 2003)

100% of ptc^hdl/ptc⁹ transheterozygotes show head capsule defects.

(Shyamala and Bhat, 2002)

Mutant embryos have an increase in larval eye neurons and optic lobe precursors.

(Chang et al., 2001)

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)

Abdominal denticle belts of mutant embryos show mirror image symmetry and only denticle types 1 and 2 are present. There is an ectopic groove in each segment.

(Gallet et al., 2000)

The gnathal lobes are reduced in mutant embryos.

(Rusch and Kaufman, 2000)

Polarity reversals are seen at the anterior and posterior of each denticle belt. Cells in the middle of each belt make unusually shaped denticles.

(Alexandre et al., 1999)

When in a wg^l-17, wg^Scer\UAS.cLa, Scer\GAL4^en-e16E background the extent of naked cuticle anterior to the Scer\GAL4^en-e16E-driven wg source is narrower than in wg^l-17, wg^Scer\UAS.cLa, Scer\GAL4^en-e16E, ptc⁺.

(Sanson et al., 1999)

Homozygotes lack RP2 neurons.

(Bhat and Schedl, 1997)

Homozygous mutants lack RP2 and RP2 sibling neurons. Double mutants with gsb⁵²⁵ exhibit duplicated RP2 and RP2 sibling neurons.

(Duman-Scheel et al., 1997)

Homozygous embryos show duplications of the first and second rows of denticles.

(Epps et al., 1997)

Stage 11 embryos exhibit normal segmental organisation of the dorsal median cells.

(Zhou et al., 1997)

Antagonizes the loss of 1^o and 2^o cell types found in hh mutants. In single mutants the 3^o cell type is missing in the dorsal epidermis.

(Bokor and DiNardo, 1996)

Mirror image transformation of the middle third of the segment into the anterior-most, leading to apodeme duplication and lateral muscle compression. The presence of ectopic segment borders at the parasegment level is translated into a two-tiered structure of the apodemes in one major row which does not affect βTub56D gene induction.

(Buttgereit, 1996)

ptc⁹; ci^D double mutants have features of both single mutants; naked cuticle is deleted and segment borders are duplicated. ptc⁹; ci^Ce-2 double mutants phenotypically resemble ci^Ce-2 single mutants; naked cuticle is deleted and the ventral surface consists of a lawn of denticles.

(Motzny and Holmgren, 1995)

Larvae show no proventricular defects.

(Pankratz and Hoch, 1995)

Coordinate mutant.

(Sturtevant and Bier, 1995)

Heterozygotes with ptc^tuf-1 display a variable phenotype including overgrowth of the anterior compartment of the wing, loss of costal structures and wing vein defects and loss of scutellar bristles. ptc^tuf-1/ptc⁹ heterozygotes display severe outgrowth of the anterior compartment of the wing disc, loss of costal structures, duplications or plexations of veins 1 and 2, increase of the distance between veins 3 and 4 and increase in the number of scutellar bristles. Heterozygotes with ptc^G20 are semi-viable, individuals display overgrowth in the anterior compartment of the wing and wing venation defects. P{HSptc.S} construct partially rescues the lethality and wing and wing venation defects. There are also increased numbers of bristles on the legs, notum and antennae and an increase in number of male sex comb teeth. Pharate adult legs are overgrown. The combination ptc^G20/ptc⁹ is pupal lethal, pharate adult escapers display increase in numbers of bristles on the notum, legs and antennae and number of teeth in the male sex comb and overgrowth of legs.

(Capdevila et al., 1994)

Df(2R)en^E ptc⁹ clones rescue the cell proliferation defect of Df(2R)en^E clones, proliferation is induced both within the clones (posterior and anterior) and in surrounding wild type cells.

(Hidalgo, 1994)

Nondefective in gonad assembly.

(Warrior, 1994)

Mutant embryos have abnormal naked cuticle and row-1 and row-2-type ventral denticles.

(Bejsovec and Wieschaus, 1993)

Acts as a dominant suppressor of the eye phenotype of homozygous hh^ts2.

(Ma et al., 1993)

An ectopic stripe of hh expression appears in each segment of the embryo.

(Lee et al., 1992)

Homozygous embryos have extra parasegmental grooves in a similar position to the tracheal pits.

(Ouellette et al., 1992)

Cuticle ventral pattern resembles that of wg individuals: abdominal segments are covered in denticles.

(Hidalgo, 1991)

Does not interact with RpII140^wimp maternal effect.

(Parkhurst and Ish-Horowicz, 1991)

Failure of head involution, lack of thoracic belts and square-shaped, mirror symmetrical abdominal belts.

(Sampedro and Guerrero, 1991)

ptc⁹ embryos had normal wg and arm protein distribution during midembryonic stages but changes were seen in protein accumulation at later stages.

(Riggleman et al., 1990)

Transformation of cells in the middle section of each segment so that they form pattern elements characteristic of cells at the segment or parasegment border.

(Hooper and Scott, 1989)

A complex pattern of cell fate alterations results in specific epidermal defects.

(Patel et al., 1989)

ptc mutant embryos have Keilin's organs, but these often have four or more sensory hairs rather than the normal three. ptc⁹/ptc^G12 and ptc⁹/ptc^S2 embryos grew in in vivo culture, producing implants containing larval gut, Malpighian tubule, fat body, salivary gland, brain and imaginal discs. The discs tended to grow as a mass of merged sheet of material. Metamorphosed implants produced adult cuticular structures derived from the eye-antenna, leg and wing discs.

(Simcox et al., 1989)

Mirror image duplications of all segment boundaries.

(Carroll and Scott, 1986)

homozygous lethal

External Data

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

ptc^H84/ptc⁹ has visible phenotype, enhanceable by Usp8^UAS.Tag:FLAG/Scer\GAL4^Bx-MS1096

(Xia et al., 2012)

Suppressed by

Statement

Reference

ptc⁹ has decreased cell number | embryonic stage phenotype, suppressible by wg^l-17

(Chen et al., 2005)

NOT suppressed by

Statement

Reference

ptc⁹ has decreased cell number | embryonic stage phenotype, non-suppressible by en^E

(Chen et al., 2005)

NOT Enhancer of

Statement

Reference

ptc⁹ is a non-enhancer of decreased cell number | embryonic stage phenotype of wg^l-17

(Chen et al., 2005)

Suppressor of

Statement

Reference

ptc⁹ is a suppressor of lethal phenotype of oro¹

(Tanda et al., 1996)

Other

Statement

Reference

oro¹, ptc⁹ has viable phenotype

(Epps et al., 1997)

oro², ptc⁹ has viable phenotype

(Epps et al., 1997)

Phenotype Manifest In

Enhanced by

Statement

Reference

ptc^H84/ptc⁹ has wing phenotype, enhanceable by Usp8^UAS.Tag:FLAG/Scer\GAL4^Bx-MS1096

(Xia et al., 2012)

NOT suppressed by

Statement

Reference

ptc⁹ has denticle belt | embryonic stage phenotype, non-suppressible by ihog^KG/ihog^KG

(Yao et al., 2006)

Enhancer of

Statement

Reference

ptc⁹ is an enhancer of wing | anterior | proximal phenotype of hh^h9D

(Kojima et al., 1994)

ptc⁹ is an enhancer of dorsal triple row phenotype of hh^h9D

(Kojima et al., 1994)

ptc⁹ is an enhancer of medial triple row phenotype of hh^h9D

(Kojima et al., 1994)

ptc⁹ is an enhancer of ventral triple row phenotype of hh^h9D

(Kojima et al., 1994)

NOT Enhancer of

Statement

Reference

ptc⁹/ptc[+] is a non-enhancer of wing phenotype of Moe^C858

(Molnar and de Celis, 2006)

Suppressor of

Statement

Reference

ptc⁹ is a suppressor of phenotype of B^unspecified

(Epps et al., 1997)

ptc⁹ is a suppressor of phenotype of hh^ts2

(Ma et al., 1996)

NOT Suppressor of

Statement

Reference

ptc⁹/ptc[+] is a non-suppressor of wing phenotype of Moe^C858

(Molnar and de Celis, 2006)

Other

Statement

Reference

en^E, ptc⁹ has genital disc primordium phenotype

(Chen et al., 2005)

ptc⁹, wg^l-17 has genital disc primordium phenotype

(Chen et al., 2005)

mid¹, ptc⁹ has denticle belt phenotype

(Buescher et al., 2004)

ci⁹⁴, ptc⁹ has embryonic segment phenotype

(Gallet et al., 2000)

ci⁹⁴, ptc⁹ has embryonic/first instar larval cuticle phenotype

(Gallet et al., 2000)

ci⁹⁴, ptc⁹ has denticle belt phenotype

(Gallet et al., 2000)

gsb^SB1, ptc⁹ has abdominal 8 ventral denticle belt | posterior phenotype

(Hidalgo, 1991)

gsb^SB1, ptc⁹ has embryonic/first instar larval cuticle | ventral phenotype

(Hidalgo, 1991)

gsb^SB1, ptc⁹ has abdominal 1 ventral denticle belt | posterior phenotype

(Hidalgo, 1991)

gsb^SB1, ptc⁹ has abdominal 2 ventral denticle belt | posterior phenotype

(Hidalgo, 1991)

gsb^SB1, ptc⁹ has abdominal 3 ventral denticle belt | posterior phenotype

(Hidalgo, 1991)

gsb^SB1, ptc⁹ has abdominal 4 ventral denticle belt | posterior phenotype

(Hidalgo, 1991)

gsb^SB1, ptc⁹ has abdominal 5 ventral denticle belt | posterior phenotype

(Hidalgo, 1991)

gsb^SB1, ptc⁹ has abdominal 6 ventral denticle belt | posterior phenotype

(Hidalgo, 1991)

gsb^SB1, ptc⁹ has abdominal 7 ventral denticle belt | posterior phenotype

(Hidalgo, 1991)

Additional Comments

Genetic Interactions

Statement

Reference

The wing defects seen in Moe^c858 homozygotes are unnaffected by ptc⁹/+.

(Molnar and de Celis, 2006)

Embryos with maternal/zygotic iHog^KG and zygotic ptc⁹ show the denticle belt duplication phenotype of ptc⁹ single mutants and not the denticle belt fusion phenotype of iHog^KG maternal/zygotic single mutants.

(Yao et al., 2006)

Stage 15 ptc⁹ wg^l-17 double mutant embryos have the same number of genital disc precursor cells as wg^l-17 single mutants. This is a reduction compared to wild type, and a huge reduction compared to ptc⁹ single mutant embryos. In contrast, stage 15 en^E ptc⁹ embryos have increased levels of genital disc precursor cells, similar to levels seen in ptc⁹ single mutants.

(Chen et al., 2005)

mid¹ ptc⁹ larvae show complete loss of denticle belts in odd-numbered segments.

(Buescher et al., 2004)

The phenotype of Alg3^tid1 ptc⁹ double mutant embryos resembles that of ptc⁹ single mutants.

(Canamasas et al., 2003)

In ptc⁹ ; ci⁹⁴ double mutant embryos, naked cuticle is present but is more limited than in ptc⁹ single mutant embryos. This double mutant cuticle phenotype is "intermediate", resembling neither single mutant. Some segments are fused, and thoracic segments do not produce any naked cuticle. Abdominal denticle diversity is restored. Expansion of denticle types 2 and 3 is seen and type 4 and 5 denticles are seen laterally. The ectopic groove seen in ptc⁹ single mutant segments is not seen in the double mutant embryos.

(Gallet et al., 2000)

ptc⁹ en^E inv^E triple mutants lack RP2 neurons.

(Bhat and Schedl, 1997)

ptc⁹ oro¹ double homozygous embryos have the same phenotype as ptc⁹ single mutant embryos, indicating that ptc is epistatic to oro. 96% of oro¹ ptc⁹/oro¹ + flies are viable. 46% of oro¹ ptc⁹/Df(2L)al flies are viable. 81% of oro¹ ptc⁹/oro² flies are viable. smo¹ ptc⁹ double homozygous embryos have a fused denticle belt phenotype, indicating that smo is epistatic to ptc. The eyes of ptc⁹/+ ; hh^bar3/hh^bar3 and ptc⁹/oro¹; hh^bar3/hh^bar3 flies are similar in size, suggesting that ptc is epistatic to oro with respect to effects on hh^bar3.

(Epps et al., 1997)

ptc⁹, wg^l-17 double mutants have lateral whirls of denticles. In hh²¹;ptc⁹ double mutants the posterior cuticle within each segment is rescued. Characteristic posterior row of denticles is absent. Denticle belts appear broader and mirror image symmetry is not found. In ptc⁹, gsb^- double mutants large posterior denticle of each abdominal belt are missing, region ventral naked cuticle is missing. Denticles of intermediate size pointing posteriorly cover the whole of the segments.

(Hidalgo, 1991)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

(Rottgen et al., 1998)

(Rottgen et al., 1998)

(Rottgen et al., 1998)

(Rottgen et al., 1998)

(Rottgen et al., 1998)

(Rottgen et al., 1998)

Rescued by

ptc⁹ is rescued by ptc^hs.PSa

(Sampedro and Guerrero, 1991)

Partially rescued by

ptc⁹ is partially rescued by ptc^hs.PSa

(Capdevila et al., 1994)

Comments

ptc^hs.PSa construct can rescue the variable phenotype in combination with ptc^tuf-1 ptc^hs.PSa construct partially rescues the lethality and wing and wing venation defects seen in combination with ptc^G20.

(Capdevila et al., 1994)

Images (0)

Mutant

Wild-type

Stocks (2)

3377

ptc⁹ cn¹ bw¹ speck¹/CyO

107021

ptc⁹ cn¹ bw¹ speck¹/CyO

Notes on Origin

Discoverer

Comments

Comments

The expression of l(1)sc is unaltered in early homozygous mutant embryos.

(Martin-Bermudo et al., 1991)

gsb-n protein expression has been studied in ptc⁹ embryos.

(Ouellette et al., 1992)

Cuticle phenotype can be restored to wild type by P{HS-ptc}.

(Schuske et al., 1994)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (10)

Reported As

Symbol Synonym

patch^IN108

(Lee et al., 1992)

ptc^1N108

(Ursuliak et al., 1997, Pankratz and Hoch, 1995, Schuske et al., 1994, Hidalgo, 1991, Kassis, 1990, Riggleman et al., 1990, Simcox et al., 1989, DiNardo et al., 1988)

ptc^1N

(Phillips et al., 1990)

ptc⁹

(Crossman et al., 2018, Mishra et al., 2018, Yuva-Aydemir et al., 2011, Kondo et al., 2009, Chanana et al., 2007, Kent et al., 2006, Yao et al., 2006)

ptc^I

(Ramirez-Weber et al., 2001)

ptc^IN168

(Martin-Bermudo et al., 1991)

ptc^In

(Piepenburg et al., 2000)

tuf⁹

(Buttgereit, 1996)

Name Synonyms

Secondary FlyBase IDs

References (86)

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