FlyBase Allele Report: Dmel\Khc[4]

General Information

Symbol

Dmel\Khc⁴

Species

D. melanogaster

Name

FlyBase ID

FBal0029876

Feature type

allele

Associated gene

Dmel\Khc

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

(Djagaeva et al., 2012, Saxton et al., 1991)

Progenitor genotype

Cytology

Description

Amino acid replacement: T291M.

(Djagaeva et al., 2012, Brendza, 2000.3.2, Brendza et al., 1999)

Nucleotide substitution: C1192T.

(Brendza, 2000.3.2)

Revision of data reported in FBrf0111813.

(Brendza, 2000.3.2)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:16,269,391..16,269,391 [-]

Nucleotide change:

C16269391T

Reported nucleotide change:

C1192T

Reported nucleotide change:

G12156896A

Amino acid change:

T291M | Khc-PA

Reported amino acid change:

T291M

Comment:

Reported base location of mutation is relative to noncoding strand.

(Djagaeva et al., 2012, Brendza, 2000.3.2, Brendza et al., 1999)

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 behavior | recessive

(Hurd et al., 1996)

lethal

(Saxton et al., 1991)

lethal | recessive

(Brendza et al., 1999)

lethal - all die before end of second instar larval stage (with Df(2R)Jp6)

(Djagaeva et al., 2012)

some die during second instar larval stage (with Df(2R)Jp6)

(Djagaeva et al., 2012)

Phenotype Manifest In

lateral transverse muscle cell

(Metzger et al., 2012)

Detailed Description

Statement

Reference

Khc⁴/Khc²⁷ larvae show reduced flux of neurosecretory dense core vesicles along the axons compared to wild type.

(Djagaeva et al., 2012)

Khc⁴ embryos have disrupted myonuclear positioning but normal muscle elongation and attachment.

(Metzger et al., 2012)

Hemizygotes show at least 50% lethality during the second larval instar stage.

(Brendza et al., 1999)

Khc⁴/Khc⁵ heteroallelic flies cultured at 22^oC become paralysed at 39^oC. The temperature threshold for this behavior is higher than that for mle^nap-ts1 or para^ts1, and the timecourse of recovery is slower. For many minutes the flies remain sluggish. Shows no bang sensitivity.

(Hurd et al., 1996)

Larval growth abnormalities and lack of mobility.

(Saxton et al., 1991)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhancer of

Statement

Reference

Khc⁴ is an enhancer of phenotype of para^ts1

(Hurd et al., 1996)

Khc⁴ is an enhancer of phenotype of mle^nap-ts1

(Hurd et al., 1996)

Suppressor of

Statement

Reference

Khc⁴ is a suppressor of phenotype of Sh¹⁴

(Hurd et al., 1996)

Khc⁴ is a suppressor of phenotype of eag¹

(Hurd et al., 1996)

Other

Statement

Reference

Khc[+]/Khc⁴, ens^swo has lateral transverse muscle cell phenotype

(Metzger et al., 2012)

Additional Comments

Genetic Interactions

Statement

Reference

Unlike either single heterozygote, embryos doubly heterozygous for ens^swo and Khc⁴ show defective myonuclear positioning.

(Metzger et al., 2012)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Khc⁵/Khc⁴ is rescued by Khc^+t7.5

(Hurd et al., 1996)

Khc⁴ is rescued by Khc^+t7.5

(Saxton et al., 1991)

Comments

The paralysis of Khc⁴/Khc⁵ flies at 39^oC is rescued by one copy of Khc^+t7.5.

(Hurd et al., 1996)

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

Khc⁴

(Djagaeva et al., 2012, Brendza, 2000.3.2, Brendza et al., 1999)

khc⁴

(Metzger et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

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