FlyBase Allele Report: Dmel\Root[66]

General Information

Symbol

Dmel\Root⁶⁶

Species

D. melanogaster

Name

FlyBase ID

FBal0317049

Feature type

allele

Associated gene

Dmel\Root

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Chen et al., 2015)

loss of function allele

(Chen et al., 2015)

Mutagen

ethyl methanesulfonate

(Chen et al., 2015)

Progenitor genotype

Cytology

Description

Amino acid replacement: K695term.

(Chen et al., 2015)

Mutation introduces a PspXI restriction site.

(Chen et al., 2015)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:24,123,221..24,123,221 [+]

Nucleotide change:

A24123221T

Amino acid change:

K695term | Root-PD; K695term | Root-PE; K695term | Root-PF

Reported amino acid change:

K695term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Chen et al., 2015)

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 auditory perception (with Df(3R)Exel6197)

(Chen et al., 2015)

abnormal auditory perception | recessive

(Chen et al., 2015)

abnormal locomotor behavior | adult stage

(Chen et al., 2015)

abnormal locomotor behavior | adult stage (with Df(3R)Exel6197)

(Chen et al., 2015)

abnormal neuroanatomy | adult stage (with Df(3R)Exel6197)

(Chen et al., 2015)

abnormal neurophysiology | adult stage (with Df(3R)Exel6197)

(Chen et al., 2015)

abnormal neurophysiology | adult stage | recessive

(Chen et al., 2015)

abnormal proboscis extension reflex | recessive

(Chen et al., 2015)

abnormal touch response | larval stage

(Chen et al., 2015)

abnormal touch response | larval stage (with Df(3R)Exel6197)

(Chen et al., 2015)

male semi-sterile (with Df(3R)Exel6197)

(Chen et al., 2015)

male sterile

(Chen et al., 2015)

uncoordinated | adult stage | recessive

(Chen et al., 2015)

viable

(Chen et al., 2015)

Phenotype Manifest In

ciliary rootlet (with Df(3R)Exel6197)

(Chen et al., 2015)

Johnston organ (with Df(3R)Exel6197)

(Chen et al., 2015)

Detailed Description

Statement

Reference

The morphology of both the type I sensory neurons and the scolopale rod of the scolopale cell that supports them appears normal in both homozygous and hemizygous (Root⁶⁶/Df(3R)Exel6197) embryos. In mutant adults, the morphology of the cilia appears normal in the Johnston's organ, femoral chordotonal organs, antennal olfactory neurons and in the "isolated" external sensory organs of the arista.

Homozygous adults are moderately uncoordinated, often falling over while traversing the surface of an agar plate, and occasionally experiencing what appear to be seizures. They show little, if any, startle response.

Homozygous and Root⁶⁶/Df(3R)Exel6197 adults show severe defects in climbing in a negative geotaxis assay.

Homozygous and Root⁶⁶/Df(3R)Exel6197 larvae lack sensitivity to touch.

Homozygous males and females show a reduced response to sucrose in a proboscis extension reflex taste assay compared to controls.

Homozygous and Root⁶⁶/Df(3R)Exel6197 adults are deaf (assayed by recording sound-evoked potentials of the Johnston's organ). Ultrastructurally, the Johnston's organ of Root⁶⁶/Df(3R)Exel6197 adults lacks the striated rootlets that normally extend from the basal body, and disconnected electron-dense clumps are seen instead at the rootlet region. The connecting fibers that are normally found between the proximal basal body and the distal basal body are also missing. The mean distance between the proximal and distal basal bodies is not significantly different from wild type, but is significantly more variable than in wild type. In 60% of cases, the proximal basal body appears to be lost. The axoneme ultrastructure appears normal.

Homozygous males are sterile, but produce mature sperm with normal tail length. Less than 40% of Root⁶⁶/Df(3R)Exel6197 males produce progeny.

(Chen et al., 2015)

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

Root⁶⁶ is rescued by Scer\GAL4^insc-Mz1407/Root^UASp.EGFP

(Chen et al., 2015)

Partially rescued by

Root⁶⁶ is partially rescued by Scer\GAL4^elav-C155/Root^UASp.EGFP

(Chen et al., 2015)

Root⁶⁶ is partially rescued by Scer\GAL4^JO15/Root^UASp.EGFP

(Chen et al., 2015)

Root⁶⁶ is partially rescued by Scer\GAL4^tilB.PK/Scer\GAL4^nan.PK/Root^UASp.EGFP

(Chen et al., 2015)

Root⁶⁶ is partially rescued by Scer\GAL4^insc-Mz1407/Root^{DEL.UASp.mRFP1}

(Chen et al., 2015)

Not rescued by

Root⁶⁶ is not rescued by Scer\GAL4^wor.PA/Root^UASp.EGFP

(Chen et al., 2015)

Root⁶⁶ is not rescued by Scer\GAL4^elav-C155/Root^{DEL.UASp.mRFP1}

(Chen et al., 2015)

Comments

The severe climbing defect of Root⁶⁶ homozygous adults is completely rescued by expression of Root^{Scer\UAS.P\T.T:Avic\GFP-EGFP} under the control of either Scer\GAL4^elav-C155 or Scer\GAL4^insc-Mz1407. Expression under the control of either Scer\GAL4^JO15, or simultaneous expression of both Scer\GAL4^tilB.PK and Scer\GAL4^nan.PK partially rescues the climbing defects, while expression under the control of Scer\GAL4^wor.PA does not significantly rescue the mutant phenotype.

The lack of touch sensitivity seen in Root⁶⁶ homozygous larvae is completely rescued by expression of Root^{Scer\UAS.P\T.T:Avic\GFP-EGFP} under the control of either Scer\GAL4^elav-C155 or Scer\GAL4^insc-Mz1407. Expression under the simultaneous control of both Scer\GAL4^tilB.PK and Scer\GAL4^nan.PK partially rescues the climbing defects, while expression under the control of Scer\GAL4^wor.PA does not significantly rescue the mutant phenotype.

The reduced response of Root⁶⁶ homozygous adults to sucrose in a proboscis extension reflex assay can be rescued by expression of Root^{Scer\UAS.P\T.T:Avic\GFP-EGFP} under the control of either Scer\GAL4^elav-C155 or Scer\GAL4^insc-Mz1407, with the rescue being stronger in females than in males.

Expression of Root^{Scer\UAS.P\T.T:Avic\GFP-EGFP} under the control of Scer\GAL4^elav-C155 partially restores a hearing response in Root⁶⁶ homozygous adults. The ciliary rootlets of rescued chordotonal organs in both the femoral chordotonal organs and Johnston's organ are shorter than normal in these flies, while the rootlets of rescued external sensory organs appear normal in length.

Expression of Root^{Scer\UAS.P\T.T:Avic\GFP-EGFP} under the control of either Scer\GAL4^elav-C155 or Scer\GAL4^insc-Mz1407 completely restores fertility in Root⁶⁶ homozygous males. Expression of Root^{Scer\UAS.P\T.T:Avic\GFP-EGFP} under the simultaneous control of both Scer\GAL4^tilB.PK and Scer\GAL4^nan.PK completely restores fertility in Root⁶⁶ homozygous males.

The severe climbing defect of Root⁶⁶ homozygous adults is not rescued by expression of Root^{DEL.Scer\UAS.P\T.T:Disc\RFP} under the control of Scer\GAL4^elav-C155. Slight rescue is seen when Root^{DEL.Scer\UAS.P\T.T:Disc\RFP} is expressed under the control of Scer\GAL4^insc-Mz1407.

The lack of touch sensitivity seen in Root⁶⁶ homozygous larvae is not rescued by expression of Root^{DEL.Scer\UAS.P\T.T:Disc\RFP} under the control of either Scer\GAL4^elav-C155 or Scer\GAL4^insc-Mz1407.

(Chen et al., 2015)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Root⁶⁶

(Chen et al., 2015)

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

Open Close