FlyBase Allele Report: Dmel\Khc[22]

General Information

Symbol

Dmel\Khc²²

Species

D. melanogaster

Name

FlyBase ID

FBal0260817

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

(Moua et al., 2011)

Mutagen

ethyl methanesulfonate

(Djagaeva et al., 2012, Moua et al., 2011)

Progenitor genotype

Cytology

Description

Amino acid replacement: P945S.

(Djagaeva et al., 2012, Moua et al., 2011)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:16,267,359..16,267,359 [-]

Nucleotide change:

C16267359T

Reported nucleotide change:

G12154864A

Amino acid change:

P945S | Khc-PA

Reported amino acid change:

P945S

Comment:

Reported base location of mutation is relative to noncoding strand.

(Djagaeva et al., 2012, Moua et al., 2011)

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 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

lethal (with Khc²⁷)

(Djagaeva et al., 2012)

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

(Djagaeva et al., 2012)

majority die during third instar larval stage

(Kelliher et al., 2018)

paralytic | larval stage

(Moua et al., 2011)

partially lethal - majority die

(Kelliher et al., 2018)

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

(Djagaeva et al., 2012)

Phenotype Manifest In

abdominal dorsal multidendritic neuron ddaC | third instar larval stage (with Khc²⁷)

(Kelliher et al., 2018)

axon | third instar larval stage (with Khc²⁷)

(Kelliher et al., 2018)

postsynaptic Golgi apparatus | ectopic | third instar larval stage (with Khc²⁷)

(Kelliher et al., 2018)

Detailed Description

Statement

Reference

The 50% lethal phase of Khc²²/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.

Khc²²/Khc²⁷ larvae show reduced flux of both neurosecretory dense core vesicles and mitochondria along the axons compared to wild type.

(Djagaeva et al., 2012)

Results in larval posterior paralysis in combination with a null Khc allele.

Both anterograde and retrograde flux of axonal mitochondria is inhibited in Khc²²/Khc²⁷ larvae.

96% of eggs from females containing homozygous germline clones have normal dorsal appendages.

The velocity of ooplasmic streaming in stage 10B oocytes is not significantly reduced in mutant females compared to wild type. The velocity of ooplasmic streaming in stage 9-10A oocytes appears to be increased in mutant females compared to controls.

(Moua et al., 2011)

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

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Khc²²

(Kelliher et al., 2018, Djagaeva et al., 2012, Moua et al., 2011)

Khc^P945S

(Kelliher et al., 2018)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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