FlyBase Allele Report: Dmel\dor[1]

General Information

Symbol

Dmel\dor¹

Species

D. melanogaster

Name

FlyBase ID

FBal0002729

Feature type

allele

Associated gene

Dmel\dor

Associated Insertion(s)

Carried in Construct

Also Known As

deep orange¹

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

X ray

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Demakova et al., 1988, Belyaeva et al., 1982)

Mutagen

X ray

Progenitor genotype

Cytology

Description

Amino acid replacement: C979Y.

(Sevrioukov et al., 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:1,668,297..1,668,297 [+]

Nucleotide change:

G1668297A

Amino acid change:

C979Y | dor-PA

Reported amino acid change:

C979Y|FBrf0112034

(Sevrioukov et al., 1999)

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

Phenotype Manifest In

eye

(Sriram et al., 2003)

eye | heat sensitive

(Shestopal et al., 1997)

late endosome

(Sriram et al., 2003)

thorax & macrochaeta | conditional cs

(Shestopal et al., 1997)

wing

(Shestopal et al., 1997)

Detailed Description

Statement

Reference

Mutant males and females have a shortened adult life span compared to controls, with a mean life span of 8.96 and 10.07 days respectively at 25^o.

(Simonsen et al., 2007)

Hemocyte endosomal degradation is significantly reduced in dor¹ mutants compared to wild-type cells. This reduction also correlates with an increased severity of eye-colour defect (with increased severity in dor¹ compared to dor⁴). Distinct from cells in wild-type and car¹ animals, the large endosomes in mutant dor¹ alleles appear blocked in progression to later stages. Endosomes in cells from dor¹ mutants, although incapable of a morphological transition to small dense vesicles, are capable of fusion at early times and normal maturation.

(Sriram et al., 2003)

Heterozygotes with T(1;2)dor^var7 are fully viable at 25^oC but have reduced viability at 18^oC. Heterozygotes have variegated eyes and show a range of morphological abnormalities including rough eyes, reduced bristles on the thorax and abnormal (wavy) wings. Eye phenotype is more extreme at 25^oC and bristle phenotype is more extreme at 18^oC.

(Shestopal et al., 1997)

PEV variegation induced by In(1LR)pn2a causes yellow spots on the eye surface. Variegating phenotype is suppressed by adding Y chromosome.

(Tolchkov et al., 1997)

Morphological abnormalities: 3 types of dor-variegated eyes: 1) dark single facets or spots on the normal pigmented background. 2)dor-coloured sectors. 3) gradual transition from dark-pigmented area to dor-piment area. Position effect variegation results in crumpled, singed wings in 45-85% dor¹/T(1;2)dor^var7 females.

(Demakova et al., 1988)

Eye colour: orange at 25^oC. viable

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

dor[+]/dor¹ is an enhancer of visible phenotype of Scer\GAL4^GMR.PF, bchs^EP2299

(Simonsen et al., 2007)

Other

Statement

Reference

car¹, dor¹ has lethal | prepupal stage phenotype

(Sriram et al., 2003)

dor¹, lt¹/lt¹¹ has lethal | recessive phenotype

(Warner et al., 1998)

dor¹, lt¹ has lethal | recessive phenotype

(Warner et al., 1998)

dor¹, lt¹/lt¹¹ has lethal phenotype

(Warner et al., 1998)

In(1LR)pn2a, dor¹ has visible phenotype

(Tolchkov et al., 1997)

car¹, dor¹ has lethal | pupal stage phenotype

(Nash, 1971)

dor¹, pd¹ has partially lethal - majority die phenotype

(Lucchesi, 1968)

Phenotype Manifest In

Enhancer of

Statement

Reference

dor[+]/dor¹ is an enhancer of eye phenotype of Scer\GAL4^GMR.PF, bchs^EP2299

(Simonsen et al., 2007)

Other

Statement

Reference

In(1LR)pn2a, dor¹ has eye phenotype

(Tolchkov et al., 1997)

Additional Comments

Genetic Interactions

Statement

Reference

The double mutant, car¹ dor¹ does not survive beyond the prepupal stage. In cell culture, car¹ dor¹ cells exhibit the most severe defect in endosomal degradation, compared to either single mutant. There is a small but significant difference between the degradation defect in dor¹ car¹ and dor¹, consistent with a role for both car and dor in endosomal degradation. Endosomes in cells from car¹ dor¹ mutants, although incapable of a morphological transition to small dense vesicles, are capable of fusion at early times and normal maturation.

(Sriram et al., 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

dor¹ is rescued by dor^1-1002.UAS/Scer\GAL4^GMR.PF

(Sevrioukov et al., 1999)

dor¹ is rescued by dor^400-1002.UAS/Scer\GAL4^GMR.PF

(Sevrioukov et al., 1999)

Not rescued by

dor¹ is not rescued by dor^{Δ401-800.UAS}/Scer\GAL4^GMR.PF

(Sevrioukov et al., 1999)

dor¹ is not rescued by dor^1-802.UAS/Scer\GAL4^GMR.PF

(Sevrioukov et al., 1999)

Comments

The eye colour phenotype of dor¹ flies is rescued by dor^{1-1002.Scer\UAS} or dor^{400-1002.Scer\UAS} expressed under the control of Scer\GAL4^GMR.PF. The eye colour phenotype of dor¹ flies is not rescued by dor^{Δ401-800.Scer\UAS} or dor^{1-802.Scer\UAS} expressed under the control of Scer\GAL4^GMR.PF, and the level of eye pigmentation in these flies is further reduced compared to dor¹ single mutant flies.