FlyBase Allele Report: Dmel\Hr78[2]

General Information

Symbol

Dmel\Hr78²

Species

D. melanogaster

Name

FlyBase ID

FBal0086829

Feature type

allele

Associated gene

Dmel\Hr78

Associated Insertion(s)

Carried in Construct

Also Known As

Dhr78²

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Fisk and Thummel, 1998)

Mutagen

ethyl methanesulfonate

(Fisk and Thummel, 1998)

Progenitor genotype

Cytology

Description

The premature stop codon is predicted to result in a truncated protein that lacks the C-terminal 314 amino acids of the wild-type protein.

(Fisk and Thummel, 1998)

Amino acid replacement: R315term.

(Fisk and Thummel, 1998)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:21,495,169..21,495,169 [-]

Nucleotide change:

C21495169T

Reported nucleotide change:

C?T

Amino acid change:

Reported amino acid change:

R315term

(Fisk and Thummel, 1998)

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

female semi-sterile | maternal effect

(Astle et al., 2003)

lethal - all die before end of larval stage (with Df(3L)79-2)

(Astle et al., 2003)

lethal - all die before end of larval stage | recessive

(Fisk and Thummel, 1998)

some die during larval stage (with Df(3L)79-2)

(Astle et al., 2003)

some die during larval stage | recessive

(Fisk and Thummel, 1998)

Phenotype Manifest In

embryonic/larval tracheal section (with Df(3L)79-2)

(Astle et al., 2003)

larval tracheal system

(Fisk and Thummel, 1998)

Detailed Description

Statement

Reference

Embryos derived from females carrying homozygous Hr78² germline clones (which lack maternal but not zygotic Hr78 function) have a slight increase in the instance of unhatched eggs and a decrease in the amount of fertilized embryos compared to controls. Hr78²/Df(3L)79-2 mutants lacking zygotic Hr78 function die during the second and third larval instar, while Hr78²/+ mutants without maternal Hr78 function display very low levels of lethality. During the molt between first and second instar larvae, the tracheae of Hr78²/Df(3L)79-2 mutants begin to fill with gas, as occurs in wild type, but stop before this process is complete. This results in second instar larvae that have tracheal branches filled with fluid, either partially or almost completely. Such fluid filling is also seen in 7-9% of first instar larvae.

(Astle et al., 2003)

Homozygous clones in the eye disc show normal furrow progression and ommatidial morphology. Homozygous clones result in no defects in the adult eye.

(Brennan et al., 2001)

Mutants die as third instar larvae. Mutant larvae exhibit asynchronous development at the second to third instar moult, reduced size during the third instar, tracheal defect and failure to pupariate.

(Fisk and Thummel, 1998)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Hr78³/Hr78² is rescued by Scer\GAL4^btl.PS/Hr78^UAS.Fa

(Astle et al., 2003)

Hr78² is rescued by Hr78^hs.PF

(Fisk and Thummel, 1998)

Partially rescued by

Hr78³/Hr78² is partially rescued by Scer\GAL4^insc-Mz1407/Hr78^UAS.Fa

(Astle et al., 2003)

Hr78³/Hr78² is partially rescued by Scer\GAL4^dimm-929/Hr78^UAS.Fa

(Astle et al., 2003)

Not rescued by

Hr78³/Hr78² is not rescued by Hr78^UAS.Fa/Scer\GAL4^Dll-md23

(Astle et al., 2003)

Hr78³/Hr78² is not rescued by Scer\GAL4^c747/Hr78^UAS.Fa

(Astle et al., 2003)

Hr78³/Hr78² is not rescued by Hr78^UAS.Fa/Scer\GAL4^132Y

(Astle et al., 2003)

Comments

Hr78^Scer\UAS.Fa driven by Scer\GAL4^dimm-929, expressed in the tracheae and many other body parts, rescues the larval lethal phenotype of ~7% of Hr78 null mutants. Hr78^Scer\UAS.Fa driven by Scer\GAL4¹⁴⁰⁷, expressed in the tracheae and CNS, rescues the larval lethal phenotype of ~29% of Hr78 null mutants.

(Astle et al., 2003)

Images (0)

Mutant

Wild-type

Stocks (2)

4436

107746

Notes on Origin