FlyBase Allele Report: Dmel\ptc[hdl]

General Information

Symbol

Dmel\ptc^hdl

Species

D. melanogaster

Name

headless

FlyBase ID

FBal0121579

Feature type

allele

Associated gene

Dmel\ptc

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

Nature of the Allele

Allele class

loss of function allele

(Shyamala and Bhat, 2002, Shyamala and Bhat, 2001)

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: V1129M.

(Shyamala and Bhat, 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:8,663,860..8,663,860 [+]

Nucleotide change:

G8663860A

Amino acid change:

V1129M | ptc-PA

Reported amino acid change:

V1129M

Comment:

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

(Shyamala and Bhat, 2002)

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 neurodegenerative disease

CEA

(Gazi 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

abnormal locomotor behavior | adult stage (with ptc⁷)

(Gazi et al., 2009)

abnormal locomotor behavior | adult stage (with ptc⁸)

(Gazi et al., 2009)

abnormal locomotor behavior | adult stage (with ptc¹²)

(Gazi et al., 2009)

abnormal locomotor behavior | adult stage (with ptc¹⁴)

(Gazi et al., 2009)

abnormal locomotor behavior | adult stage (with ptc^559.1)

(Gazi et al., 2009)

abnormal neuroanatomy | adult stage | progressive (with ptc⁹)

(Gazi et al., 2009)

abnormal size | third instar larval stage (with ptc^H84)

(Shyamala and Bhat, 2002)

decreased occurrence of cell division | larval stage

(Shyamala and Bhat, 2001)

decreased occurrence of cell division | third instar larval stage (with ptc^H84)

(Shyamala and Bhat, 2002)

lethal - all die during embryonic stage (with Df(2R)Np3)

(Gazi et al., 2009)

lethal - all die during pupal stage | recessive

(Gazi et al., 2009)

viable (with ptc⁷)

(Gazi et al., 2009)

viable (with ptc⁸)

(Gazi et al., 2009)

viable (with ptc¹²)

(Gazi et al., 2009)

viable (with ptc¹⁴)

(Gazi et al., 2009)

viable (with ptc^559.1)

(Gazi et al., 2009)

viable (with ptc^S2)

(Gazi et al., 2009)

Phenotype Manifest In

adult external head

(Gazi et al., 2009)

adult external head (with ptc⁷)

(Gazi et al., 2009)

adult external head (with ptc⁸)

(Gazi et al., 2009)

adult external head (with ptc¹²)

(Gazi et al., 2009)

adult external head (with ptc¹⁴)

(Gazi et al., 2009)

adult external head (with ptc^S2)

(Gazi et al., 2009)

adult head capsule

(Shyamala and Bhat, 2002)

adult head capsule (with ptc⁴)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc⁵)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc⁸)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc⁹)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc¹⁰)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc¹²)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc¹⁴)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc¹⁷)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc^559.1)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc^H84)

(Shyamala and Bhat, 2002)

adult head capsule (with ptc^IIC99)

(Shyamala and Bhat, 2002)

eye-antennal disc (with ptc^H84)

(Shyamala and Bhat, 2002)

head

(Shyamala and Bhat, 2001)

imaginal disc | larval stage

(Shyamala and Bhat, 2001)

neuron | adult stage (with ptc⁹)

(Gazi et al., 2009)

Detailed Description

Statement

Reference

ptc^hdl homozygotes show fully penetrant headcase defects and die at late pupal stage. ptc^hdl animals transheterozygous for any of the following ptc alleles: ptc^S2, ptc¹⁴, ptc⁸, ptc¹², ptc⁷ or ptc⁹ are viable with lowly penetrant headcase defects and all except ptc^hdl/ptc^S2 also 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)

100% of ptc^hdl adults transheterozygous with ptc^H84 show head capsule defects. the eye antennal discs from these individuals appear to be normal in size, during the second instar stages, by the mid to late third instar stages mutant discs are small and lacking organised folds and swirls of proliferating cells. These phenotypes appear to caused by a lack of precursor cell proliferation in the disc.

ptc^hdl in combination with ptc^S2 or ptc⁷ does not lead to any head capsule defects.

100% of ptc^hdl adults transheterozygous with ptc¹⁷, ptc⁴, ptc¹⁰, ptc^IIC99, or ptc⁹ show head capsule defects. These defects include head deformation, clefts, and loss of antenna.

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

83% of ptc^hdl/ptc⁵ transheterozygotes show head capsule defects.

8% of ptc^hdl/ptc⁸ transheterozygotes show head capsule defects.

75% of ptc^hdl/ptc¹² transheterozygotes show head capsule defects.

3% of ptc^hdl/ptc^559.1 transheterozygotes show head capsule defects.

(Shyamala and Bhat, 2002)

In combination with null alleles of ptc shows severe head defects. Cells of the mutant discs fail to proliferate. This defect in disc morphogenesis becomes physically apparent by 3rd instar larval stage.

(Shyamala and Bhat, 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressed by

Statement

Reference

ptc^hdl/ptc^H84 has adult head capsule phenotype, suppressible by babo^Q302D.UAS/Scer\GAL4^69B

(Shyamala and Bhat, 2002)

NOT suppressed by

Statement

Reference

ptc^hdl/ptc^H84 has adult head capsule phenotype, non-suppressible by Df(3L)H99

(Shyamala and Bhat, 2002)

ptc^hdl/ptc^H84 has adult head capsule phenotype, non-suppressible by smo¹

(Shyamala and Bhat, 2002)

Additional Comments

Genetic Interactions

Statement

Reference

The addition of smo¹ to ptc^H84/ptc^hdl animals has no effect on the head capsule defect phenotype. All animals continue to show the phenotype. The addition of Df(3L)H99 of ptc^H84/ptc^hdl does not suppress head capsule defects. The addition of babo^{Q302D.Scer\UAS} (driven by Scer\GAL4^69B) suppresses the head capsule defect phenotype seen in ptc^H84/ptc^hdl. None of these animals exhibit head capsule defects. The addition of babo^{Q302D.Scer\UAS} (driven by Scer\GAL4^69B) suppresses the head capsule defect phenotype seen in ptc^H84/ptc^hdl. None of these animals exhibit head capsule defects.

(Shyamala and Bhat, 2002)

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 (2)

Reported As

Symbol Synonym

ptc^hdl

(Gazi et al., 2009)

Name Synonyms

headless

(Shyamala and Bhat, 2002, Shyamala and Bhat, 2001)

Secondary FlyBase IDs

References (3)

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