FlyBase Allele Report: Dmel\GlcAT-P[SK6]

General Information

Symbol

Dmel\GlcAT-P^SK6

Species

D. melanogaster

Name

FlyBase ID

FBal0340195

Feature type

allele

Associated gene

Dmel\GlcAT-P

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Itoh et al., 2018)

Mutagen

CRISPR/Cas9

(Itoh et al., 2018)

Progenitor genotype

Cytology

Description

Ten bases are deleted from the GlcAT-P coding region, resulting in frameshifts from the 60th to the 83rd amino acid residues of GlcAT-P-I and from the 60th to the 68th amino acid residues of GlcAT-P-II.

(Itoh et al., 2018)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3L:11,183,650..11,183,659 [-]

Comment:

Ten bases are deleted in the first coding exon of GlcAT-P causing a frameshift at amino acid 60.

(Itoh et al., 2018)

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 | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

abnormal size | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

Phenotype Manifest In

basement membrane | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

embryonic/larval neuromuscular junction | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

endosome | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

larval ventral nerve cord | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

muscle cell of abdominal 3 ventral longitudinal muscle 3 (with Df(3L)BSC817)

(Itoh et al., 2018)

muscle cell of abdominal 3 ventral longitudinal muscle 4 (with Df(3L)BSC817)

(Itoh et al., 2018)

NMJ bouton | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

postsynaptic density | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

synaptic vesicle | larval stage (with Df(3L)BSC817)

(Itoh et al., 2018)

Detailed Description

Statement

Reference

GlcAT-P^SK6/Df(3L)BSC817 mutant larvae display an extended VNC phenotype, but do not show impaired locomotion in crawling assays, as compared to controls; their muscles 6 and 7 at abdominal segment 3 show a partial loss of basement membrane particularly evident at the neuromuscular junction (assessed by Ndg and fluorescent Vkg protein levels), a duplicated and ruptured basal laminae at the muscles boundary (in ultrastructure analyses), and a less branched neuromuscular junction with boutons mis-localized to the muscles boundary (despite of similar bouton number), as compared to controls; at the presynaptic region, the synaptic vesicles (i.e. <80nm structures) are significantly smaller, and both the presynaptic endosome-like vesicles (i.e. >80nm structures) and vesicle structures within 250nm from a T-bar are significantly less abundant, but the total number of vesicles per bouton area and the number of T-bars are not significantly affected, as compared to controls; at the postsynaptic region, the postsynaptic density (PSD) is significantly shorter and deeper, but the number of PSDs per bouton, the subsynaptic reticulum (SSR) thickness per bouton area, and SSR density are not significantly affected, as compared to controls.

(Itoh et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Other

Statement

Reference

C1GalTA[+]/C1GalTA^2.1, GlcAT-P^SK6 has muscle cell of abdominal 3 ventral longitudinal muscle 3 phenotype

(Itoh et al., 2018)

C1GalTA[+]/C1GalTA^2.1, GlcAT-P^SK6 has muscle cell of abdominal 3 ventral longitudinal muscle 4 phenotype

(Itoh et al., 2018)

C1GalTA[+]/C1GalTA^2.1, GlcAT-P^SK6 has basement membrane | larval stage phenotype

(Itoh et al., 2018)

Additional Comments

Genetic Interactions

Statement

Reference

The muscles 6 and 7 at abdominal segment 3 of GlcAT-P^SK6, C1GalTA^2.1 double heterozygotes are frequently in close contact, covered with a continuous single basement membrane and/or show loss of basement membrane (assessed by Ndg protein levels), as compared to controls.

(Itoh et al., 2018)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

GlcAT-P^SK6 is rescued by GlcAT-P^UAS.cUa/Scer\GAL4^Act5C.PI

(Itoh et al., 2018)

Comments

The expression of GlcAT-P^UAS.cUa under the control of Scer\GAL4^Act5C.PI rescues the partial loss of basement membrane and the neuromuscular junction defects (i.e. branching, bouton localization and basal lamina) at the larval muscles of GlcAT-P^SK6/Df(3L)BSC817 mutants.

(Itoh et al., 2018)

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

GlcAT-P^SK6

dGlcAT-P^SK6

(Itoh et al., 2018)

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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