FlyBase Allele Report: Dmel\Khc[6]

General Information

Symbol

Dmel\Khc⁶

Species

D. melanogaster

Name

FlyBase ID

FBal0029878

Feature type

allele

Associated gene

Dmel\Khc

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Pilling et al., 2006, Gho et al., 1992)

Mutagen

ethyl methanesulfonate

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

Progenitor genotype

Cytology

Description

Amino acid replacement: R741Q.

(Djagaeva et al., 2012)

Point mutation.

(Saxton et al., 1991)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:16,268,041..16,268,041 [-]

Nucleotide change:

G16268041A

Reported nucleotide change:

C12155546T

Amino acid change:

R741Q | Khc-PA

Reported amino acid change:

R741Q

Comment:

Reported base location of mutation is relative to noncoding strand.

(Djagaeva et al., 2012)

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 ( 1 )

Disease

Evidence

References

model of motor neuron disease

CEA

(Hurd and Saxton, 1996)

model of neurodegenerative disease

CEA

(Djagaeva et al., 2012)

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

(Hurd and Saxton, 1996)

abnormal behavior | recessive

(Hurd et al., 1996)

abnormal neuroanatomy (with Df(2R)Jp6)

(Hurd and Saxton, 1996)

abnormal neurophysiology

(Saxton et al., 1991)

lethal (with Df(2R)Jp6)

(Schmidt et al., 2012)

lethal (with Khc²⁷)

(Djagaeva et al., 2012)

lethal | recessive

(Saxton et al., 1991)

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

(Djagaeva et al., 2012)

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

(Djagaeva et al., 2012)

Phenotype Manifest In

axon

(Hurd and Saxton, 1996)

mitochondrion (with Khc²⁷)

(Pilling et al., 2006)

neuromuscular junction

(Hurd and Saxton, 1996)

Detailed Description

Statement

Reference

The 50% lethal phase of Khc⁶/Khc²⁷ animals on normal and rich food is the third larval instar stage. On poor food, the 50% lethal phase is shifted to the pupal stage.

Khc⁶/Khc²⁷ larvae show reduced flux of both neurosecretory dense core vesicles and mitochondria along the axons compared to wild type.

(Djagaeva et al., 2012)

In Khc⁶/Khc²⁷ larval motor axons, the anterograde and retrograde flux of mitochondria is reduced by 70-90%.

(Pilling et al., 2006)

Khc⁶/Df(2R)Jp6 larvae exhibit early loss of motor activity in the ventral posterior segments causing an inbalance in bodywall contractions such that larvae rhythmically flip their tails upward during locomotion. Mutation causes organelle-filled axonal swellings that exhibit abnormal accumulation of nerve terminal proteins, syt, Csp, Syx1A and Fas3. Slow axonal transport does not make a substantial contribution to the swellings. Mutation causes dystrophic neuromuscular junctions; the number of synaptic boutons per muscle 6/7 junction in segments A2 and A6 in wandering third instar larvae is reduced threefold and fivefold respectively.

(Hurd and Saxton, 1996)

Khc⁶/Khc^BD 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)

Impairs action potential propagation in axons and neurotransmitter release at nerve terminals, but has no effect on the concentration of synaptic vesicles in nerve terminal cytoplasm, nor the number of axons in a nerve bundle. Post-synaptic response to spontaneous vesicle release is normal. The phenotype is more severe for the A6 segment than the A2 segment demonstrating a correlation between severity of phenotype and axon length.

(Gho et al., 1992)

Larval growth abnormalities and lack of mobility.

(Saxton et al., 1991)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Khc⁶/Khc^BD is a suppressor of abnormal behavior phenotype of Sh¹⁴

(Hurd et al., 1996)

Khc⁶/Khc^BD is a suppressor of abnormal behavior | recessive phenotype of eag¹

(Hurd et al., 1996)

Other

Statement

Reference

Khc⁶/Khc^BD, mle^nap-ts1 has lethal phenotype

(Hurd et al., 1996)

Khc⁶/Khc^BD, para^ts1 has lethal phenotype

(Hurd et al., 1996)

Phenotype Manifest In

Suppressor of

Statement

Reference

Khc⁶/Khc^BD is a suppressor of leg phenotype of Sh¹⁴

(Hurd et al., 1996)

Khc⁶/Khc^BD is a suppressor of leg phenotype of eag¹

(Hurd et al., 1996)

Additional Comments

Genetic Interactions

Statement

Reference

Khc⁶/Khc^BD suppresses the leg shaking of Sh¹⁴ and eag¹ mutants, and this phenotype is reversed by addition of one copy of Khc^+t7.5.

(Hurd et al., 1996)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Khc⁶/Df(2R)Jp6 is rescued by Khc^+t7.5

(Hurd and Saxton, 1996)

Khc⁶/Khc^BD is rescued by Khc^+t7.5

(Hurd et al., 1996)

Khc⁶ is rescued by Khc^+t7.5

(Saxton et al., 1991)

Not rescued by

Khc⁶/Df(2R)Jp6 is not rescued by Scer\GAL4^da.G32/Khc^UAS.cSa

(Schmidt et al., 2012)

Khc⁶/Df(2R)Jp6 is not rescued by Khc^UAS.N.GFP/Scer\GAL4^da.G32

(Schmidt et al., 2012)

Comments

Expression of either Khc^{Scer\UAS.N.T:Avic\GFP} or Khc^Scer\UAS.cSa under the control of Scer\GAL4^da.G32 rescues the lethality of Khc⁸/Df(2R)Jp6 flies but not of Khc⁶/Df(2R)Jp6 flies (indicating that Khc⁶ may be an antimorphic mutation).

(Schmidt et al., 2012)

The terminal phenotype is completely rescued by a single copy of the Khc^+t7.5 transposon.

(Hurd and Saxton, 1996)

The paralysis of Khc⁶/Khc^BD 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

Khc⁶

(Djagaeva et al., 2012, Barkus et al., 2008, Pilling et al., 2006, Martin et al., 2005)

khc⁶

(Li et al., 2014, Schmidt et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (12)

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