FlyBase Allele Report: Dmel\orb2[36]

Scer\FRT-mediated recombination between the two progenitor insertions (PBac{WH}CG43783^f04965 and PBac{WH}orb2^f01556) has deleted the genomic sequence between them, resulting in a deletion of orb2 sequence.

(Xu et al., 2012)

Allele components

Component

Use(s)

Inserted element

PBac{WHr}

misexpression element

Regulatory region(s)

UAS

binary expression system - regulatory region

Also carries

FRT

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3L:8,938,850..8,954,400 [-]

Comment:

Scer\FRT-mediated recombination between the two progenitor insertions (PBac{WH}CG43783[f04965] and PBac{WH}orb2[f01556]) has deleted the genomic sequence between them, resulting in a deletion of orb2 sequence.

(Xu et al., 2012)

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 | male

(Xu et al., 2012)

male sterile (with Df(3L)ED4416)

(Xu et al., 2012)

male sterile (with orb2^R)

(Gilmutdinov et al., 2021)

Phenotype Manifest In

axoneme

(Xu et al., 2012)

early elongation stage spermatid (with orb2^R)

(Gilmutdinov et al., 2021)

elongation stage spermatid (with orb2^R)

(Gilmutdinov et al., 2021)

individualization stage spermatid (with orb2^R)

(Gilmutdinov et al., 2021)

Nebenkern

(Xu et al., 2012)

spermatid

(Xu et al., 2012)

spermatid (with orb2^R)

(Gilmutdinov et al., 2021)

spermatid cyst

(Shao et al., 2023, Xu et al., 2014)

spermatozoon | absent (with orb2^R)

(Gilmutdinov et al., 2021)

sperm individualization complex

(Xu et al., 2012)

Detailed Description

Statement

Reference

100% of testes in mutant males contain misoriented spermatid cysts.

(Xu et al., 2014)

Overall testis morphology is normal in mutant males. Pre-meiotic stages of spermatogenesis appear normal, but defects are seen at later stages. Spermatocytes fail to undergo the G2-M transition of meiosis I: chromosomes show only partial condensation they do not congress to the metaphase plate. Mutant spermatids and their nuclei are abnormally large and the Nebenkern are abnormally shaped and sometimes fragmented. Overall DNA content is increased compared to wild type, due to the failure to complete meiosis. The axoneme bundles of mutant spermatids are rough and uneven, shorter than normal and zigzag back and forth. The individualisation complex is not formed, although scattered triangular shaped actin cones are seen. Individualisation of the sperm does not take place.

(Xu et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

orb2³⁶ has spermatid cyst phenotype, enhanceable by eIF4E5^B8a

(Shao et al., 2023)