FlyBase Allele Report: Dmel\Marf1[KO321]

General Information

Symbol

Dmel\Marf1^KO321

Species

D. melanogaster

Name

FlyBase ID

FBal0359954

Feature type

allele

Associated gene

Dmel\Marf1

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

(Kawaguchi et al., 2020)

Mutagen

CRISPR/Cas9

(Kawaguchi et al., 2020)

Progenitor genotype

Cytology

Description

Two-nucleotide deletion in the N-terminal region of Marf1 causes a frameshift mutation and premature termination of translation.

(Kawaguchi et al., 2020)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

complex_substitution

2L:22,363,614..22,363,620 [+]

Inserted_sequence:

ACATA

Comment:

The sequence CACAGCC is replaced with ACATA causing a net 2 base deletion starting at amino acid H47 of isoform Marf1-PA. This leads to a frameshift and early translation termination after the addition of 13 novel amino acids.

(Kawaguchi et al., 2020)

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 meiotic cell cycle | recessive

(Kawaguchi et al., 2020)

female fertile

(Kawaguchi et al., 2020)

lethal - all die during embryonic stage | maternal effect | recessive

(Kawaguchi et al., 2020)

male fertile

(Kawaguchi et al., 2020)

Phenotype Manifest In

egg chamber

(Kawaguchi et al., 2020)

embryo | maternal effect

(Kawaguchi et al., 2020)

meiotic spindle | female

(Kawaguchi et al., 2020)

spindle microtubule | female

(Kawaguchi et al., 2020)

Detailed Description

Statement

Reference

Embryos derived from Marf1^KO321 homozygous females contain fragmented or over-replicated chromosomes that are often surrounded with microtubules, but not the rosette structure.

Marf1^KO321 homozygous stage 14 egg chambers exhibit reduced in vitro egg activation, and broken or misaligned meiotic spindles.

Unfertilized eggs from Marf1^KO321 homozygous females exhibit defects in meiosis I to II progression; some have a single metaphase I-like spindle, some have two spindle-like structures that are not connected to each other, and some exhibit abnormal and disrupted spindle structures.

(Kawaguchi et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions