FlyBase Allele Report: Dmel\Np[C2]

General Information

Symbol

Dmel\Np^C2

Species

D. melanogaster

Name

FlyBase ID

FBal0345561

Feature type

allele

Associated gene

Dmel\Np

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

loss of function allele

(Drees et al., 2019)

Mutagen

CRISPR/Cas9

(Drees et al., 2019)

Progenitor genotype

Cytology

Description

Frameshift mutation (14bp deletion plus a single nucleotide change) in the 5' region of the Np open reading frame.

(Drees et al., 2019)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

2R:9,001,480..9,001,495 [-]

Comment:

16 bases are removed and replaced with "CC".in the first coding exon of Np. This is equivalent to a 14 base deletion with a single base substitution (A to C) two bases downstream from the deletion site.

Inserted_sequence:

(Drees et al., 2019)

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

lethal - all die during embryonic stage (with Df(2R)BSC271)

(Drees et al., 2019)

lethal - all die during embryonic stage (with Np^P6)

(Drees et al., 2019)

visible | embryonic stage 17 (with Np^P6)

(Drees et al., 2019)

Phenotype Manifest In

Detailed Description

Statement

Reference

Np^C2 homozygous, Np^C2/Np^P6 transheterozygous and Np^C2/Df(2R)BSC271 transheterozygous stage 17 embryos fail to clear liquid from the trachea. This defect is likely due to transepithelial barrier defects as, unlike in controls, a dye injected into the haemocoel of Np^C2/Np^P6 embryos diffuses into the tracheal lumen and is found in the paracellular space; this happens in stage 17 embryos but not in stage 16 embryos. The trachea of Np^C2/Np^P6 embryos lacks taenidial fold (disorganized chitin strands), despite of a wild-type like tracheal tube morphology, a wild-type like epithelial polarity (as shown by the localization of Uninflatable, Crumbs, Megatrachea, Kune-kune and DE-cadherin) and wild-type septate junction unltrastructure.