FlyBase Allele Report: Dmel\kkv[1]

General Information

Symbol

Dmel\kkv¹

Species

D. melanogaster

Name

FlyBase ID

FBal0005703

Feature type

allele

Associated gene

Dmel\kkv

Associated Insertion(s)

Carried in Construct

Also Known As

kkv^14C73

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Ostrowski et al., 2002)

Mutagen

ethyl methanesulfonate

(Tearle and Nusslein-Volhard, 1987)

Progenitor genotype

Cytology

Description

Amino acid replacement: R897K.

(Moussian et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:5,382,454..5,382,454 [-]

Nucleotide change:

G5382454A

Amino acid change:

R896K | kkv-PA; R896K | kkv-PC; R896K | kkv-PD

Reported amino acid change:

R897K

Comment:

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

(Moussian et al., 2005, Tearle and Nusslein-Volhard, 1987)

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 shape | embryonic stage 17

(Öztürk-Çolak et al., 2016)

lethal - all die during embryonic stage | recessive

(Moussian et al., 2005)

some die during embryonic stage | recessive

(Moussian et al., 2005)

Phenotype Manifest In

Detailed Description

Statement

Reference

In the tracheal dorsal trunk of stage 17 kkv¹ homozygous embryos, the distinct apical cell shape of the node cells is disturbed; the apical plasma membrane of the remaining cells lack anteroposterior elongation; chitin is absent; taenidial folds are absent and F-actin bundles fail to form when compared to controls. Also during embryo development in kkv¹ homozygotes, F-actin (Utr-GFP) bundles formed normally and thereafter collapsed different than controls.

(Öztürk-Çolak et al., 2016)

kkv¹ mutant trachea lack chitin and exhibit irregular tube diameter. kkv¹ mutants also exhibit an expanded and deformed embryonic cuticle.

(Luschnig et al., 2006)

The tracheal tubes of kkv¹ stage 16 embryos display aberrant constrictions and dilations. However, the dorsal trunk lumen is continuous, as in wild type. The diffusion barrier mediated by the septate junctions is not impaired. kkv¹ embryos have no detectable CNS phenotypes.

(Araujo et al., 2005)

kkv¹ mutants have a tracheal tube expansion defect.

(Devine et al., 2005)

Mutant embryos do not synthesis detectable chitin.

(Moussian et al., 2005)

At the end of embryogenesis, kkv¹ mutant embryos exhibit severe tube dilations and cysts in all multicellular branches of the tracheal system. In addition, the ganglionic branches show discontinuities at the borders of the ventral nerve cord. However, branching of the tracheal system appears normal.

(Tonning et al., 2005)

In homozygous embryos the Malpighian tubules emerge from a single sack that is attached to the hindgut rather than from two separate ureters as in wild-type embryos. The tubules appear to have elongated properly, but cell rearrangement is apparently defective because the tubules are considerably wider than normal along most of their length.

(Jack and Myette, 1999)

No changes in phenotype of tor^13D embryos.

(Strecker et al., 1991)

Head skeleton crumbled; denticle bands narrower; embryo rarely inverted in egg case.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT Suppressor of

Statement

Reference

kkv¹ is a non-suppressor of phenotype of arm³

(Cox et al., 2000)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

kkv¹⁷⁰⁵

(Ghabrial et al., 2011)

kkv⁷⁹¹

(Ghabrial et al., 2011)

kkv⁴⁸³

(Ghabrial et al., 2011)

kkv⁴⁰⁴

(Ghabrial et al., 2011)

kkv³⁶⁰

(Ghabrial et al., 2011)

kkv^S017909

(Samakovlis, 2007.10.7)

Rescued by

kkv¹ is rescued by kkv^UAS.GFP/Scer\GAL4^Abd-B-LDN

(Öztürk-Çolak et al., 2016)

kkv¹ is rescued by Scer\GAL4^btl.PS/kkv^UAS.cDa

(Devine et al., 2005)

Comments

kkv¹ fails to complement lethality and tracheal phenotypes due to kkv^s017909.

(Samakovlis, 2007.10.7)

Expression of kkv^Scer\UAS.cDa under the regulation of Scer\GAL4^btl.PS ameliorates the kkv¹ tube expansion defect.

(Devine et al., 2005)

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

3090

st¹ kkv¹ e¹/TM3, Sb¹ Ser¹

Kyoto

106833

st¹ kkv¹ e¹/TM3, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

CS-1/kkv^14C73

(Moussian et al., 2005)

kkv^14C73

(Tonning et al., 2006, Araujo et al., 2005, Strecker et al., 1991)

kkv^14C

(Jack and Myette, 1999, Tearle and Nusslein-Volhard, 1987)

kkv¹

(Öztürk-Çolak et al., 2016, Sobala et al., 2015, Dong et al., 2014, Nagaraj and Adler, 2012, Ghabrial et al., 2011, Luschnig et al., 2006, Tonning et al., 2005)

Name Synonyms

Secondary FlyBase IDs

References (19)

Report Sections

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