FlyBase Allele Report: Dmel\Rbcn-3A[11L]

General Information

Symbol

Dmel\Rbcn-3A^11L

Species

D. melanogaster

Name

FlyBase ID

FBal0156990

Feature type

allele

Associated gene

Dmel\Rbcn-3A

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Nikolova and Metzstein, 2015)

Mutagen

Progenitor genotype

Cytology

Description

Alters codon 1027 of Rbcn-3A from a CAG (glutamine) codon to a TAG termination codon, truncating the 3426 amino acid protein approximately one-third of the way through the coding sequence.

(Nikolova and Metzstein, 2015)

Amino acid replacement: Q1027term.

(Nikolova and Metzstein, 2015)

Nucleotide substitution: C?T.

(Nikolova and Metzstein, 2015)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:6,249,367..6,249,367 [-]

Nucleotide change:

C6249367T

Reported nucleotide change:

C?T

Amino acid change:

Q1027term | Rbcn-3A-PB

Reported amino acid change:

Q1027term

(Nikolova and Metzstein, 2015)

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

terminal tracheal cell | somatic clone | third instar larval stage

(Nikolova and Metzstein, 2015)

tracheal system

(Metzstein et al., 2004)

Detailed Description

Statement

Reference

Somatic MARCM clone of tracheal cells homozygous for Rbcn-3A^11L have mostly normal outgrowth and branching but do not form a gas-filled lumen, whereas unicellular tubes and fusion cells (toroidal tracheal cells that join adjacent tracheal segments) as well as individual Rbcn-3A^11L mutant cells in tracheal dorsal trunks of third instar larvae appear completely normal.

On the ultrastructural level, somatic MARCM clone terminal tracheal cells homozygous for Rbcn-3A^11L show an abnormal multi-membraneous structure in place of normal lumen in third instar larvae. These structures typically appear as multiple membraneous swirls but also as multiple vacuoles separated from the vacuole by a limiting membrane.

(Nikolova and Metzstein, 2015)

Mutants show essentially normal tracheal branch outgrowth but form no air-filled lumens.

(Metzstein et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

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

Comments

Identification: Generated in a screen of a collection of 750 X-linked lethals.

(Metzstein et al., 2004)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

11L

(Metzstein et al., 2004)

CG3585^11L

Rbcn-3A^11L

(Nikolova and Metzstein, 2015)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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