FlyBase Allele Report: Dmel\aPKC[EX48]

General Information

Symbol

Dmel\aPKC^EX48

Species

D. melanogaster

Name

FlyBase ID

FBal0159527

Feature type

allele

Associated gene

Dmel\aPKC

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Ruiz-Canada et al., 2004)

Progenitor genotype

aPKC^k06403

(Ruiz-Canada et al., 2004)

Cytology

Description

Incomplete excision of the P{lacW} element from aPKC^k06403 has left 1461bp fragment of the P element. In addition 1311bp of intron are deleted.

(Ruiz-Canada et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 neuroanatomy

(Ruiz-Canada et al., 2004)

abnormal neurophysiology

(Ruiz-Canada et al., 2004)

female sterile | recessive

(Ruiz-Canada et al., 2004)

viable

(Ruiz-Canada et al., 2004)

Phenotype Manifest In

bouton

(Ruiz-Canada et al., 2004)

microtubule & synapse

(Ruiz-Canada et al., 2004)

microtubule & synapse (with Df(2R)Jp1)

(Ruiz-Canada et al., 2004)

spermatid cyst

(Xu et al., 2014)

Detailed Description

Statement

Reference

Testes of homozygous males sometimes contain misoriented spermatid cysts where the clustered spermatid nuclei are found apically (rather than basally).

(Xu et al., 2014)

In mutant animals, there is a 50% decrease in the number of synaptic boutons at the neuromuscular junction (NMJ). Muscle size remains normal. In mutant animals the presynaptic cytoskeleton is altered during the formation of new synaptic boutons. Tyrosinated microtubules have a punctate or diffuse distribution. aPKC^EX48/Df(2R)Jp1 animals exhibit alterations in the postsynaptic peribouton cytoskeleton. Microtubules appear much closer to the presynaptic bouton than seen in wild-type. Mutant animals exhibit a substantial increase in spontaneous miniature excitatory junctional potential (mEJP) amplitude. The frequency of mEJPs is decreased. The amplitude of evoked junctional potentials (EJPs) is increased by a small but significant amount. The overall quantal content is significantly reduced in mutants.

(Ruiz-Canada et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Other

Statement

Reference

aPKC^EX48, orb2[+]/orb2³⁶ has spermatid cyst phenotype

(Xu et al., 2014)

aPKC^EX48, orb2^ΔQ/orb2[+] has spermatid cyst phenotype

(Xu et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

aPKC^EX48/+ ; orb2³⁶/+ and aPKC^EX48/+ ; orb2^ΔQ/+ double heterozygous males sometimes contain misoriented spermatid cysts.

(Xu et al., 2014)

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 (4)

Reported As

Symbol Synonym

aPKC^EX48

apkc⁴⁸

(Xu et al., 2014)

apkc^ex48

(Xu et al., 2014)

dapkc^EX48

(Ruiz-Canada et al., 2004)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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