FlyBase Allele Report: Dmel\stum[204]

General Information

Symbol

Dmel\stum²⁰⁴

Species

D. melanogaster

Name

FlyBase ID

FBal0296448

Feature type

allele

Associated gene

Dmel\stum

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Desai et al., 2014)

Progenitor genotype

Cytology

Description

Amino acid replacement: Y171term.

(Desai et al., 2014)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:21,677,027..21,677,027 [+]

Nucleotide change:

C21677027R

Amino acid change:

Y171term | stum-PB; Y171term | stum-PD

Reported amino acid change:

Y171term

Comment:

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

(Desai et al., 2014)

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 neuroanatomy | adult stage

(Desai et al., 2014)

abnormal neurophysiology | adult stage

(Desai et al., 2014)

uncoordinated | adult stage

(Desai et al., 2014)

uncoordinated | adult stage (with stum⁹²²)

(Desai et al., 2014)

uncoordinated | adult stage (with stum⁴⁴⁸⁷)

(Desai et al., 2014)

Phenotype Manifest In

dendrite

(Desai et al., 2014)

multidendritic neuron

(Desai et al., 2014)

Detailed Description

Statement

Reference

Homozygous and stum⁴⁴⁸⁷/stum⁹²² adults show a severe impairment of walking ability (assayed by speed of climbing) compared to controls.

stum²⁰⁴/stum⁹²² adults show a mild impairment of walking ability (assayed by speed of climbing) compared to controls.

Electrophysiological recordings of the mechanical response of the type I (ciliated) mechanoreceptor neuron of the anterior notopleural bristle of homozygous flies are normal.

Type II (multidendritic) mechanoreceptor neurons with dendrites terminating at the tibia-tarsus joint show dendrite stretching in response to different angles of the joint which is comparable to that seen in controls. However, the Ca[2+] responses of these neurons to both acute and obtuse joint angles are abolished in the mutant flies. In some cases the mutant dendrites show morphological abnormalities, with the tip of the dendrite being overgrown and extending into the distal segment of the joint. The fraction of dendrites showing this morphological defect increases from the day of eclosion to the following day.

(Desai et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

stum²⁰⁴ has uncoordinated | adult stage phenotype, suppressible | partially by Scer\GAL4^elav.PU/Mmus\Stum^UAS.cDa

(Desai et al., 2014)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Mmus\6330403A02Rik^Scer\UAS.cDa under the control of Scer\GAL4^elav.PU partially rescues the impaired walking phenotype of stum²⁰⁴ adults.

(Desai et al., 2014)

Complementation and Rescue Data

Fails to complement

stum⁹²²

(Desai et al., 2014)

stum⁴⁴⁸⁷

(Desai et al., 2014)

Rescued by

stum²⁰⁴ is rescued by Scer\GAL4^elav.PU/stum^UAS.cDa

(Desai et al., 2014)

Comments

Expression of stum^Scer\UAS.cDa under the control of Scer\GAL4^elav.PU partially rescues the impaired walking phenotype of stum²⁰⁴ adults.