FlyBase Allele Report: Dmel\mv[3]

General Information

Symbol

Dmel\mv³

Species

D. melanogaster

Name

FlyBase ID

FBal0367418

Feature type

allele

Associated gene

Dmel\mv

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - molecular evidence

Mutagen

Nature of the Allele

Allele class

hypomorphic allele - molecular evidence

(Lattao et al., 2021)

Mutagen

Progenitor genotype

Cytology

Description

G to A mutation in the splice acceptor site of intron 15-16.

(Lattao et al., 2021)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:1,952,183..1,952,183 [-]

Nucleotide change:

G1952183A

Comment:

Nucleotide substitution: AG changed to AA in the splice acceptor of intron 15-16.

(Lattao et al., 2021)

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 Chediak-Higashi syndrome

CEA

(Lattao et al., 2021)

CEA with mv¹

(Lattao et al., 2021)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Chediak-Higashi syndrome

is ameliorated by Rab5^S43N.UAS

(Lattao et al., 2021)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal mitotic cell cycle | embryonic stage | maternal effect (with mv¹)

(Lattao et al., 2021)

increased size | embryonic stage | maternal effect (with Df(3L)R-G7)

(Lattao et al., 2021)

increased size | oogenesis (with Df(3L)R-G7)

(Lattao et al., 2021)

lethal | maternal effect (with mv¹)

(Lattao et al., 2021)

partially lethal - majority die | maternal effect (with mv^ros)

(Lattao et al., 2021)

Phenotype Manifest In

centrosome | embryonic stage 4 | maternal effect (with mv¹)

(Lattao et al., 2021)

chromosome | embryonic stage | maternal effect (with mv¹)

(Lattao et al., 2021)

lipid droplet | decreased number | embryonic stage | maternal effect (with Df(3L)R-G7)

(Lattao et al., 2021)

lipid droplet | embryonic stage (with mv^ros)

(Kilwein et al., 2023)

microtubule | embryonic stage 4 | maternal effect (with Df(3L)R-G7)

(Lattao et al., 2021)

mitotic spindle | embryonic stage | maternal effect (with mv¹)

(Lattao et al., 2021)

nucleus | embryonic stage 4 | maternal effect (with Df(3L)R-G7)

(Lattao et al., 2021)

nucleus | embryonic stage 4 | maternal effect (with mv¹)

(Lattao et al., 2021)

spindle pole centrosome | embryonic stage 4 | maternal effect (with Df(3L)R-G7)

(Lattao et al., 2021)

yolk (with mv^ros)

(Kilwein et al., 2023)

yolk granule | embryonic stage | maternal effect (with Df(3L)R-G7)

(Lattao et al., 2021)

yolk granule | oogenesis (with Df(3L)R-G7)

(Lattao et al., 2021)

Detailed Description

Statement

Reference

mv³/Df(3L)R-G7 stage 9 oocytes show enlarged yolk granules. Embryos from mv³/Df(3L)R-G7 mothers show enlarged yolk granules and fewer but enlarged lipid droplets; they also display MTOC inactivation and loss of contact between nuclei and centrosomes at the cortex, leading to nuclear fallout (NUF ; nuclei to sink into the interior of the embryo); in live imaging, nuclear division cycles are synchronous until syncytial blastoderm, when small clusters of nuclei lose synchrony concomitantly with diminished microtubule nucleation by centrosomes, leading to NUF. Embryos from mv³/Df(3L)R-G7 mothers show decreased microtubule growth in cold-induced microtubule regrowth assays.

Stage 4 embryos from mv³/mv¹ mothers show multiple centrosomes often in chains.

(Lattao et al., 2021)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

mv³/Df(3L)R-G7 has increased size | maternal effect | embryonic stage phenotype, suppressible | partially by Rab5^S43N.UAS/Scer\GAL4^{VP16.mat.αTub67C}

(Lattao et al., 2021)