FlyBase Allele Report: Dmel\Rab32[ltd-1]

General Information

Symbol

Dmel\Rab32^ltd-1

Species

D. melanogaster

Name

FlyBase ID

FBal0011737

Feature type

allele

Associated gene

Dmel\Rab32

Associated Insertion(s)

Carried in Construct

Also Known As

ltd¹, Rab32¹

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

spontaneous

Nature of the Allele

Allele class

Mutagen

spontaneous

Progenitor genotype

Cytology

Description

Mutation is in the common exon of the predicted CG8024 transcripts and eliminates the C-terminal 203 amino acid region.

(Ma et al., 2004)

Nucleotide substitution: C?G.

(Ma et al., 2004)

Amino acid replacement: ??term.

(Ma et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:9,179,184..9,179,184 [-]

Nucleotide change:

C9179184G

Reported nucleotide change:

C?G

Amino acid change:

Reported amino acid change:

??term

Comment:

Mutation is in the common exon of the predicted Rab32 transcripts and eliminates the C-terminal 203 amino acid region. Position of mutation on reference sequence inferred by FlyBase curator based on author statement.

(Ma et al., 2004)

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 Hermansky-Pudlak syndrome

modeled by Blos1^ex2

(Cheli et al., 2010)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

eye photoreceptor cell & pigment granule

(Ma et al., 2004)

flight muscle cell | adult stage

(Chen et al., 2020)

Malpighian tubule

mitochondrion | adult stage

(Chen et al., 2020)

ocellus pigment granule

outer photoreceptor cell | adult stage

(Kohrs et al., 2021)

pigment cell

primary pigment cell pigment granule

(Ma et al., 2004)

rhabdomere of eye photoreceptor cell | adult stage

(Kohrs et al., 2021)

secondary pigment cell pigment granule

(Ma et al., 2004)

tertiary pigment cell pigment granule

(Ma et al., 2004)

wing

(Kohrs et al., 2021)

wing (with Df(2R)BSC279)

(Kohrs et al., 2021)

Detailed Description

Statement

Reference

Rab32¹ homozygous adults exhibit smaller and rounder mitochondria in flight muscles.

(Chen et al., 2020)

Mutant flies show a significant decrease in ommochrome pigment levels and some reduction in drosopterin pigment levels compared to wild type.

(Harris et al., 2011)

Mutant flies have reduced red pigment in the eye compared to controls.

(Cheli et al., 2010, Cheli et al., 2010)

The primary pigment cells in ltd¹ flies lack the large electron-lucent xanthommatin granules seen in wild type, while the granules in the secondary and tertiary pigment cells are fewer in number than normal and abnormal in shape and density of their content. The photoreceptor cells lack the small xanthommatin pigment granules seen in wild type.

(Ma et al., 2004)

Uptake of kynurenine, which is produced in the fat body, by the Malpighian tubes, where it is converted to 3-hydrokynurenine, is defective; similar defect seen in eye discs. Sullivan and Sullivan postulate that ltd is a transport mutant that prevents the substrate kynurenine from reaching the sites of its conversion to ommochrome.

(Sullivan and Sullivan, 1975)

Exhibits reduced levels of phenoazinone synthetase, an enzyme involved in the condensation of 3OH kynurenine molecules to xanthommatin, as do other mutants deficient in ommochrome synthesis.

(Phillips et al., 1973)

Administration of 3 hydroxykynurenine without effect on eye colour.

(Sullivan et al., 1973)

Studied phenotypic interaction with other eye-color mutants.

(Reedy and Cavalier, 1971)

Deficient in ommochrome synthesis. Lack detectable levels of 3OH kynurenine despite normal levels of kynurenine hydroxylase activity.

(Phillips et al., 1970)

Eye colour: clear, light, translucent yellowish pink; resembles lt¹ but is lighter, darkens with age. Ocellus colour: colourless. Malpighian tubule colour: colourless.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Rab32^ltd-1 has abnormal eye color phenotype, enhanceable by aux^UAS.cHa/Scer\GAL4^GMR.PF

(Cheli et al., 2010)

Rab32^ltd-1 has abnormal eye color phenotype, enhanceable by Blos1^ex2

(Cheli et al., 2010)

Enhancer of

Statement

Reference

Rab32^ltd-1 is an enhancer of abnormal eye color phenotype of Blos1^ex2

(Cheli et al., 2010)

Rab32^ltd-1 is an enhancer of visible phenotype of p^p

(Falcon-Perez et al., 2007)

Rab32^ltd-1 is an enhancer of abnormal eye color phenotype of p^p

(Falcon-Perez et al., 2007)

Rab32^ltd-1 is an enhancer of visible phenotype of p^snb

(Falcon-Perez et al., 2007)

Rab32^ltd-1 is an enhancer of abnormal eye color phenotype of p^snb

(Falcon-Perez et al., 2007)

Rab32^ltd-1/ltd[+] is an enhancer of visible phenotype of Scer\GAL4^GMR.PF, bchs^EP2299

(Simonsen et al., 2007)

Other

Statement

Reference

Rab32^ltd-1, g¹ has abnormal eye color phenotype

(Silva and Mensua, 1985)

Rab32^ltd-1, rb¹ has abnormal eye color phenotype

(Silva and Mensua, 1985)

Phenotype Manifest In

Suppressed by

Statement

Reference

Rab32^ltd-1 has flight muscle cell | adult stage phenotype, suppressible by Cisd^UAS.cCa/Scer\GAL4^Mef2.247

(Chen et al., 2020)

Rab32^ltd-1 has mitochondrion | adult stage phenotype, suppressible by Cisd^UAS.cCa/Scer\GAL4^Mef2.247

(Chen et al., 2020)

NOT suppressed by

Statement

Reference

Rab32^ltd-1 has phenotype, non-suppressible by su(Hw)²

(Lindsley and Grell, 1968)

Enhancer of

Statement

Reference

Rab32^ltd-1 is an enhancer of pigment cell phenotype of p^snb

(Falcon-Perez et al., 2007)

Rab32^ltd-1/ltd[+] is an enhancer of eye phenotype of Scer\GAL4^GMR.PF, bchs^EP2299

(Simonsen et al., 2007)

Suppressor of

Statement

Reference

Rab32^ltd-1/Rab32^ltd-1 is a suppressor of flight muscle cell | adult stage phenotype of Cisd^UAS.cCa, Scer\GAL4^Mef2.247

(Chen et al., 2020)

Rab32^ltd-1/Rab32^ltd-1 is a suppressor of mitochondrion | adult stage phenotype of Cisd^UAS.cCa, Scer\GAL4^Mef2.247

(Chen et al., 2020)

Rab32^ltd-1/Rab32^ltd-1 is a suppressor of vesicle | adult stage phenotype of Cisd^UAS.cCa, Scer\GAL4^Mef2.247

(Chen et al., 2020)

Other

Statement

Reference

Rab32^ltd-1, g¹ has pigment cell phenotype

(Silva and Mensua, 1985)

Rab32^ltd-1, rb¹ has pigment cell phenotype

(Silva and Mensua, 1985)

Additional Comments

Genetic Interactions

Statement

Reference

The reduction in ommochrome pigment levels that is seen in ltd¹ flies is not affected by HPS4^W515X.

(Harris et al., 2011)

Expression of aux^Scer\UAS.cHa under the control of Scer\GAL4^GMR.PF enhances the loss of red eye pigment that is seen in ltd¹ flies.

(Cheli et al., 2010)

The reduction in red pigment in the eye seen in ltd¹ blos1^ex2 double mutants is more severe than that seen in either single mutant.

(Cheli et al., 2010)

Eye colour: ltd¹; p^snb eyes are lighter and have significantly reduced levels of red pigment compared to either single mutant.

(Falcon-Perez et al., 2007)

The level of pteridine eye pigments in ltd¹ ; ca¹ double mutant flies resembles that seen in ca¹ single mutants. The level of pteridine eye pigments in g¹ ; ltd¹ or rb¹ ; ltd¹ double mutant flies are significantly lower than that of the corresponding single mutants.