FlyBase Allele Report: Dmel\Pngl[ex20]

General Information

Symbol

Dmel\Pngl^ex20

Species

D. melanogaster

Name

FlyBase ID

FBal0244828

Feature type

allele

Associated gene

Dmel\Pngl

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

Mutagen

Delta2-3 transposase

(Funakoshi et al., 2010)

Progenitor genotype

P{SUPor-P}Pngl^KG05548

(Funakoshi et al., 2010)

Cytology

Description

Imprecise excision of the progenitor insertion, resulting in a deletion that removes part of the Pngl transcription unit. The deletion extends 1.1kb upstream from the original insertion site. No Pngl transcripts can be detected in the mutant animals.

(Funakoshi et al., 2010)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 NGLY1-deficiency

CEA

(Galeone et al., 2017, Funakoshi et al., 2010)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of NGLY1-deficiency

is ameliorated by Mmus\Ngly1^UASp.cFa

(Funakoshi et al., 2010)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal developmental rate (with Pngl^PL)

(Rodriguez et al., 2018)

abnormal developmental rate | larval stage

(Funakoshi et al., 2010)

abnormal developmental rate | larval stage (with Pngl^ex14)

(Funakoshi et al., 2010)

abnormal size | larval stage

(Galeone et al., 2017)

female sterile

(Funakoshi et al., 2010)

female sterile (with Pngl^ex14)

(Funakoshi et al., 2010)

male sterile

(Funakoshi et al., 2010)

male sterile (with Pngl^ex14)

(Funakoshi et al., 2010)

partially lethal - majority die (with Df(2R)nap9)

(Funakoshi et al., 2010)

partially lethal - majority die (with Pngl^ex14)

(Funakoshi et al., 2010)

partially lethal - majority die | recessive

(Funakoshi et al., 2010)

short lived (with Pngl^ex14)

(Funakoshi et al., 2010)

viable (with Pngl^KG05548)

(Funakoshi et al., 2010)

Phenotype Manifest In

embryonic/larval midgut | larval stage

(Galeone et al., 2017)

gastric caecum | larval stage

(Galeone et al., 2017)

Detailed Description

Statement

Reference

Pngl^PL/Pngl^ex20 transheterozygotes are delayed to eclosion.

(Rodriguez et al., 2018)

The Pngl^ex20 homozygous larval midgut exhibits severely decreased gastric caeca and a reduction of the acid zone, as compared to controls.

(Galeone et al., 2017)

Pngl^ex20 homozygous larvae start to wander a couple of days later than their heterozygous siblings, and show a significant delay in pupal formation. Despite the delayed growth, a fraction of the mutant animals succeed in eclosion and emerge as adults without any apparent morphological defects. Pngl^ex20/Pngl^ex14 heterozygous are partially lethal and the surviving adults show a higher frequency of premature death than wild type and severe male and female sterility.

(Funakoshi et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Pngl^ex20/Pngl^PL has abnormal developmental rate phenotype, suppressible by Hsap\NGLY1^UAS.cGa/Scer\GAL4^spok.1.45

(Rodriguez et al., 2018)

Pngl^ex20/Pngl^PL has abnormal developmental rate phenotype, suppressible by Hsap\NGLY1^UAS.cGa/Scer\GAL4^phtm.PO

(Rodriguez et al., 2018)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

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

Pngl^Ex20

(Rodriguez et al., 2018)

Pngl^ex20

(Galeone et al., 2017, Funakoshi et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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