FlyBase Allele Report: Dmel\lola[ORC4]

General Information

Symbol

Dmel\lola^ORC4

Species

D. melanogaster

Name

FlyBase ID

FBal0151749

Feature type

allele

Associated gene

Dmel\lola

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Horiuchi et al., 2003)

Progenitor genotype

Cytology

Description

Amino acid replacement: E771term.

(Horiuchi et al., 2003)

Nucleotide substitution: T34341C.

(Horiuchi et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:10,508,949..10,508,949 [-]

Nucleotide change:

C10508949T

Reported nucleotide change:

C34341T

Amino acid change:

Q771term | lola-PAA; Q771term | lola-PI

Reported amino acid change:

Q771V|lola-PI

Comment:

Q771 is replaced with a stop codon in the C5-8/V21-22 isoform.

(Horiuchi et al., 2003, Horiuchi et al., 2003)

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., 2003)

lethal

(Ramalingam et al., 2023)

lethal (with Df(2R)ED2098)

(Kahsai et al., 2016)

lethal (with Df(2R)stan2)

(Horiuchi et al., 2003)

lethal (with lola⁶²⁹)

(Bass et al., 2007)

lethal (with lola^k09901)

(Kahsai et al., 2016)

lethal (with lola^ORE50)

(Horiuchi et al., 2003)

lethal | recessive

(Horiuchi et al., 2003)

partially lethal (with lola^c46)

(Horiuchi et al., 2003)

partially lethal (with lola^ORE120)

(Horiuchi et al., 2003)

viable (with lola^ORE119)

(Horiuchi et al., 2003)

Phenotype Manifest In

egg chamber | germline clone

(Bass et al., 2007)

germline cell | embryonic stage (with lola^22.05)

(Silva et al., 2016)

gonad | embryonic stage (with lola^22.05)

(Silva et al., 2016)

gonadal sheath proper primordium (with lola^22.05)

(Silva et al., 2016)

nurse cell | germline clone

(Bass et al., 2007)

Detailed Description

Statement

Reference

lola^ORC4/lola^22.05 transheterozygous embryos display a significant increase in defects in the fusion together and compaction of primordial germ cells and somatic gonadal precursor cells, as compared to controls.

(Silva et al., 2016)

Females containing homozygous germline clones show defects in stage 14 egg chambers, including dumpless egg chambers (egg chambers in which the nurse cells have failed to transfer their cytoplasmic contents to the oocyte, have intact nuclei and do not appear to be undergoing programmed cell death) and egg chambers with persisting nurse cell nuclei (egg chambers in which nurse cells have transferred their cytoplasmic contents to the oocyte, but their nuclei have failed to undergo programmed cell death including nuclear condensation). Most of the dumpless egg chambers do not contain any TUNEL-positive nurse cells.

Mid-stage degenerating egg chambers from nutrient deprived females containing homozygous germline clones are not TUNEL-positive (in contrast to egg chambers in nutrient deprived control females).

18% of mid-stage egg chambers containing homozygous germline clones show a protrusion of the nurse cell lamina through the ring canal.

(Bass et al., 2007)

lola^ORC4 MARCM clones do not show obvious projection neuron dendritic targeting defects.

(Spletter et al., 2007)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT Enhancer of

Statement