FlyBase Allele Report: Dmel\Aplip1[EK4]

General Information

Symbol

Dmel\Aplip1^EK4

Species

D. melanogaster

Name

FlyBase ID

FBal0095811

Feature type

allele

Associated gene

Dmel\Aplip1

Associated Insertion(s)

Carried in Construct

Also Known As

ek4

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Horiuchi et al., 2005)

Mutagen

ethyl methanesulfonate

(Martin et al., 1999)

Progenitor genotype

Cytology

Description

Amino acid replacement: P483L.

(Horiuchi et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:1,198,602..1,198,602 [+]

Nucleotide change:

C1198602T

Amino acid change:

P476L | Aplip1-PA; P483L | Aplip1-PB

Reported amino acid change:

P483L

Comment:

Site of nucleic acid difference inferred by FlyBase based on reported amino acid change.

(Martin 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 neuroanatomy

(Horiuchi et al., 2005)

abnormal neuroanatomy (with Df(3L)Fpa2)

(Horiuchi et al., 2005)

fertile

(Horiuchi et al., 2005)

paralytic

(Gassman et al., 1999)

paralytic | larval stage | posterior

(Horiuchi et al., 2005)

paralytic | larval stage | posterior (with Df(3L)Fpa2)

(Horiuchi et al., 2005)

viable

(Horiuchi et al., 2005)

Phenotype Manifest In

axon

(Horiuchi et al., 2005)

axon (with Df(3L)Fpa2)

(Horiuchi et al., 2005)

mitochondrion

(Horiuchi et al., 2005)

Detailed Description

Statement

Reference

Aplip1^EK4/Aplip1^EK4 mushroom body clones have normal axon pruning.

(Bornstein et al., 2015)

Aplip1^EK4/Df(3L)Fpa2 larvae show defects in axonal transport, resulting in accumulations of protein in nerves. Maximum bouton diameter at the neuromuscular junction is normal in these larvae.

(Klinedinst et al., 2013)

Aplip1^EK4 larvae show posterior paralysis and axonal swelling. This phenotype is enhanced in Aplip1^EK4/Df(3L)Fpa2 larvae. While the anterograde and retrograde flux of vesicles are reduced by ~35% in Aplip1^EK4 mutant axons, only the retrograde flux of mitochondria is reduced (by 60%) and anterograde mitochondrial flux is unaffected.

(Horiuchi et al., 2005)

Homozygous or hemizygous Aplip1^EK4 mutants have organelle jams and show a "flipper" phenotype (partial paralysis of larvae).

(Gassman et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Aplip1^EK4 has paralytic | posterior | larval stage phenotype, suppressible by Klp64D^k5

(Horiuchi et al., 2005)

Aplip1^EK4 has paralytic | posterior | larval stage phenotype, suppressible by Dhc64C^ek1

(Horiuchi et al., 2005)

Other

Statement

Reference

Aplip1^EK4, Khc²⁷/Khc[+] has paralytic | posterior | dominant | larval stage phenotype

(Horiuchi et al., 2005)

Aplip1^EK4, Khc²⁷ has paralytic | posterior | dominant | larval stage phenotype

(Horiuchi et al., 2005)

Aplip1^EK4, Khc¹⁶/Khc[+] has paralytic | dominant | larval stage phenotype

(Martin et al., 1999)

Aplip1^EK4/Aplip1[+], Khc¹⁶ has paralytic | dominant | larval stage phenotype

(Martin et al., 1999)

Phenotype Manifest In

Suppressed by

Statement

Reference

Aplip1^EK4 has axon phenotype, suppressible by Klp64D^k5

(Horiuchi et al., 2005)

Aplip1^EK4 has axon phenotype, suppressible by Dhc64C^ek1

(Horiuchi et al., 2005)

Other

Statement

Reference

Aplip1^EK4, Khc²⁷/Khc[+] has axon phenotype

(Horiuchi et al., 2005)

Aplip1^EK4, Khc²⁷ has axon phenotype

(Horiuchi et al., 2005)

Additional Comments

Genetic Interactions

Statement

Reference

Aplip1^EK4/+; Khc²⁷/+ larvae show posterior paralysis in 86% of cases; these mutants also show axonal swelling. Expression of the Aplip1^+tHa transgene fully rescues the posterior paralysis phenotype of Aplip1^EK4/+; Khc²⁷/+ larvae and partially rescues the axonal swelling phenotype. Df(3L)34ex5, Aplip1^EK4 larvae show slightly lower levels of posterior paralysis and similar levels of axonal swelling to Aplip1^EK4 flies. Dhc64C^ek1, Aplip1^EK4 larvae show lower levels of posterior paralysis and axonal swelling than Aplip1^EK4 larvae. In Aplip1^EK4, Klp64D^k5 double mutants the posterior paralysis and axonal swelling of Aplip1^EK4 single mutants are completely suppressed.

(Horiuchi et al., 2005)

Heterozygous Aplip1^EK4 mutants cause organelle jams when combined with either a Khc or Klc mutation.

(Gassman et al., 1999)

Aplip1^EK4 Khc¹⁶ double heterozygous larvae show a posterior paralysis phenotype.

(Martin et al., 1999)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

24632

Aplip1^EK4

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (9)

Reported As

Symbol Synonym

Aplip1^EK4

(Inoshita et al., 2022)

E(Khc)ek4

(Horiuchi et al., 2005)

E(Khc)ek4^EK4

EK4

(Horiuchi et al., 2005, Gassman et al., 1999)

Jip1/2EK4

(Horiuchi et al., 2005)

aplilp1^EK4

(Bornstein et al., 2015)

aplip1^ek4

(Siebert et al., 2015)

ek4

(Horiuchi et al., 2005, Martin et al., 1999)

jip1^ek4

(Klinedinst et al., 2013)

Name Synonyms

Secondary FlyBase IDs

References (8)

Report Sections

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