FlyBase Allele Report: Dmel\heph[2]

(Fingerhut et al., 2019, Robida and Singh, 2003, Dansereau et al., 2002, Spradling et al., 1999, BDGP Project Members, 1994-1999, Castrillon et al., 1993)

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 ( 1 )

Disease

Interaction

References

exacerbates tauopathy

modeled by Hsap\MAPT^UAS.cWa

(Feuillette et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

lethal (with Df(3R)ED6361)

(Miller et al., 2020)

lethal (with Df(3R)ED6362)

(Miller et al., 2020)

lethal (with Df(3R)ED50003)

(Miller et al., 2020)

lethal | heat sensitive

(Robida et al., 2010)

male sterile

(Dansereau et al., 2002)

male sterile (with heph⁰³⁴²⁹)

(Cook, 2006.1.31, Dansereau et al., 2002)

male sterile (with heph^e1)

(Dansereau et al., 2002)

male sterile (with heph^e2)

(Dansereau et al., 2002)

male sterile (with heph^j11B9)

(Dansereau et al., 2002)

male sterile | recessive

(Robida and Singh, 2003, Spradling et al., 1999)

Phenotype Manifest In

Detailed Description

Statement

Reference

heph² heterozygous third instar larval mitotic neuroblasts exhibit an abnormal number of chromosomes compared to controls.

(Oliveira et al., 2019)

At 25[o]C, only 8% of heph² flies reach adulthood. The survival frequency is increased to 33% and 67% when mutant flies are raised at 21[o]C and 17[o]C respectively.

The testis tips of heph² mutants are swollen to many times their normal diameter. The testes show a lack of motile sperm, and a pronounced accumulation of cysts of elongated spermatids. A few cysts of elongated spermatids appear to be partially individualized, and spermatids in cysts often have numerous bulges along their length which is not observed in wild-type testes.

(Robida et al., 2010)

Despite severe defects in spermatid individualisation capase activity is detectable in spermatid cysts of heph² homozygotes, as in wild-type at this stage.

(Arama et al., 2003)

The tip of the testis in homozygotes is enlarged and males are sterile. Mutant testes accumulate cysts of elongated spermatids, and the enlarged tip is also filled with these cysts. In addition mutant lack fully individualised motile sperm. All of the stages up to elongated sperm can be seen. The majority of the elongated spermatid show numerous bulges along the tails characteristic of a defect during the individualisation process.

(Robida and Singh, 2003)

Tip of testis is dilated to twice wild type circumference.

(Castrillon et al., 1993)

Tip of testis dilated to approximately twice the wild type circumference.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference