FlyBase Allele Report: Dmel\rhea[13-8]

General Information

Symbol

Dmel\rhea^13-8

Species

D. melanogaster

Name

FlyBase ID

FBal0288473

Feature type

allele

Associated gene

Dmel\rhea

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Ghabrial et al., 2011)

Progenitor genotype

Cytology

Description

Contains an AG-->AA splice site alteration.

(Ghabrial et al., 2011)

Nucleotide substitution: G?A.

(Levi et al., 2006)

The G-A substitution is in the 3' splice site of the fourth intron. This results in mis-splicing and use of a cryptic 3' splice site located seven nucleotides 3' of the normal site, which alters the expressed product after codon 268, resulting in a truncated protein.

(Levi et al., 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:8,562,532..8,562,532 [+]

Nucleotide change:

G8562532A

Reported nucleotide change:

G?A

Comment:

G-A substitution splice acceptor of the fourth intron. This results in use of a cryptic 3' splice site located seven nucleotides 3' of the normal site, which alters the expressed product after codon 268, resulting in a truncated protein.

(Levi et al., 2006)

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

abnormal cell adhesion | embryonic stage 17

(Katzemich et al., 2019)

lethal (with rhea^6-66)

(Levi et al., 2006)

lethal (with rhea^14-69)

(Levi et al., 2006)

lethal (with rhea^15-39)

(Levi et al., 2006)

lethal - all die during embryonic stage

(Katzemich et al., 2019, Levi et al., 2006)

some die during embryonic stage

(Levi et al., 2006)

Phenotype Manifest In

Detailed Description

Statement

Reference

Stage 16/17 rhea^13-8 embryos show a 'rounded-up' muscle phenotype in which all muscles are detached from one another and from the cuticle. Upon Scer\GAL4^Mef2.PU-driven expression of rhea^{T150A.T152A.UAS.Tag:FLAG} (1 or 2 copies) muscle are still detached from the cuticle but not from one another; in addition, striations were lost, suggesting defects in myofibril assembly.

(Katzemich et al., 2019)

rhea^13-8 mutants exhibit terminal cell pruning with multiple convoluted lumens.

(Ghabrial et al., 2011)

At early L2, rhea^13-8 dorsal branch terminal cell clones resemble wild-type clones, whereas rhea^13-8 clones examined later in development have progressively more severe phenotypes. In early third instar, defects become prominent. The number of terminal is significantly reduced relative to wild-type terminal cells, and the lumens of the branches in mutant terminal cells are convoluted. By the late third instar, rhea^13-8 clones typically have just a single stubby branch packed with a tangle of convoluted lumens. When mutiple lumens are present within a branch, they are not always the same diameter.

rhea^13-8 fat body terminal cell clones show a thickening of terminal branches compared to wild-type clones.

(Levi et al., 2006)

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

Fails to complement

rhea^15-39

(Levi et al., 2006)

rhea^14-69

(Levi et al., 2006)

rhea^6-66

(Levi et al., 2006)

rhea¹

(Levi et al., 2006)

Rescued by

rhea^13-8 is rescued by rhea^{T152E.UAS.Tag:FLAG}/Scer\GAL4^Mef2.PU

(Katzemich et al., 2019)

rhea^13-8 is rescued by Scer\GAL4^Mef2.PU/rhea^UAS.Tag:FLAG

(Katzemich et al., 2019)

Partially rescued by

rhea^13-8 is partially rescued by Scer\GAL4^Mef2.PU/rhea^{T150A.T152A.UAS.Tag:FLAG}

(Katzemich et al., 2019)

FBal0356120:, rhea^13-8 is partially rescued by Scer\GAL4^Mef2.PU, rhea^{T150A.T152A.UAS.Tag:FLAG}/rhea^{T150A.T152A.UAS.Tag:FLAG}

(Katzemich et al., 2019)

Comments

(Katzemich et al., 2019)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

Based on the extent of the tracheal luminal phenotype, the following rhea alleles can be ranked from weakest to strongest: rhea^15-39 < rhea^14-69 < rhea^6-66 < rhea^13-8.

(Levi et al., 2006)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

1308

(Ghabrial et al., 2011)

rhea^13-8

(Katzemich et al., 2019, Kim et al., 2012)

rhea¹³⁰⁸

tendrils^13-8

(Levi et al., 2006, Levi et al., 2006)

Name Synonyms

Secondary FlyBase IDs

FBal0268685
FBal0193600

References (5)

Report Sections

Open Close