FlyBase Allele Report: Dmel\Khc[74]

General Information

Symbol

Dmel\Khc⁷⁴

Species

D. melanogaster

Name

FlyBase ID

FBal0278203

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)

Progenitor genotype

Cytology

Description

Amino acid replacement: D79N.

(Djagaeva et al., 2012)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:16,270,166..16,270,166 [-]

Nucleotide change:

G16270166A

Reported nucleotide change:

C12157671T

Amino acid change:

D79N | Khc-PA

Reported amino acid change:

D79N

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 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)

lethal - all die before end of larval stage (with Df(2R)Jp7)

(Djagaeva et al., 2012)

lethal - all die before end of larval stage (with Khc⁸)

(Djagaeva et al., 2012)

paralytic (with Khc⁸)

(Djagaeva et al., 2012)

paralytic (with Khc²⁷)

(Djagaeva et al., 2012)

paralytic | third instar 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)

some die during third instar larval stage (with Df(2R)Jp7)

(Djagaeva et al., 2012)

some die during third instar larval stage (with Khc⁸)

(Djagaeva et al., 2012)

Phenotype Manifest In

Detailed Description

Statement

Reference

The 50% lethal phase of Khc⁷⁴/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.

Khc⁷⁴/Khc²⁷ larvae show reduced flux of neurosecretory dense core vesicles compared to wild type and no flux of mitochondria along the axons.

(Djagaeva et al., 2012)

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 (1)

Reported As

Symbol Synonym

Khc⁷⁴

(Djagaeva et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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