FlyBase Allele Report: Hsap\KCNC3[R423H.UAS]

General Information

Symbol

Hsap\KCNC3^R423H.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0342186

Feature type

allele

Associated gene

Hsap\KCNC3

Associated Insertion(s)

Carried in Construct

P{UAS-hKCNC3.R423H}

Key Links

Transgenic product class

missense_variant

(Khare et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Khare et al., 2017)

Mutagen

in vitro construct

(Khare et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-hKCNC3.R423H}

Cytology

Description

UASt regulates expression of a Hsap\KCNC3 cDNA bearing a R423H mutation.

(Khare et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\KCNC3

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 ( 1 )

Disease

Evidence

References

model of spinocerebellar ataxia type 13

CEA

(Khare et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of spinocerebellar ataxia type 13

is ameliorated by Egfr^UAS.cBa

(Khare et al., 2017)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Khare et al., 2017)

KCNC3:p.Arg423His

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

spinocerebellar ataxia 13

External database links

ClinVar: KCNC3_208671

Comments concerning this variant

Phenotypic Data

Phenotypic Class

decreased size | adult stage, with Scer\GAL4^GMR.PU

(Khare et al., 2017)

decreased size | larval stage, with Scer\GAL4^GMR.PU

(Khare et al., 2017)

visible | adult stage, with Scer\GAL4^A9

(Khare et al., 2017)

visible | adult stage, with Scer\GAL4^dpp.PU

(Khare et al., 2017)

visible | adult stage, with Scer\GAL4^GMR.PU

(Khare et al., 2017)

Phenotype Manifest In

anterior crossvein, with Scer\GAL4^dpp.PU

(Khare et al., 2017)

eye, with Scer\GAL4^GMR.PU

(Khare et al., 2017)

interommatidial bristle, with Scer\GAL4^GMR.PU

(Khare et al., 2017)

lens, with Scer\GAL4^GMR.PU

(Khare et al., 2017)

ommatidium, with Scer\GAL4^GMR.PU

(Khare et al., 2017)

ommatidium | larval stage, with Scer\GAL4^GMR.PU

(Khare et al., 2017)

wing, with Scer\GAL4^A9

(Khare et al., 2017)

wing vein, with Scer\GAL4^A9

(Khare et al., 2017)

wing vein L2, with Scer\GAL4^dpp.PU

(Khare et al., 2017)

wing vein L3, with Scer\GAL4^dpp.PU

(Khare et al., 2017)

Detailed Description

Statement

Reference

Expressing Hsap\KCNC3^R423H.UAS under the control of Scer\GAL4^dpp.PU (at 29[o]C) results in dosage-dependent wing vein defects: expression from one copy leads to the complete loss of the anterior crossvein and partial loss of wing vein L3; expression from two copies additionally leads to disruption of wing vein L2.

Expressing Hsap\KCNC3^R423H.UAS under the control of Scer\GAL4^A9 induces severely altered wing morphology and vein patterning.

Expressing Hsap\KCNC3^R423H.UAS under the control of Scer\GAL4^GMR.PU at higher levels induces eye dysmorphology with profound reduction in size, disrupted ommatidial organization, fused ommatidia, malformed eye bristles, and disrupted lens pattern, as compared to controls. The developing larval eye shows disorganized and fused ommatidia with smaller and defective ommatidial clusters.

(Khare et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\KCNC3^R423H.UAS, Scer\GAL4^GMR.PU has visible | adult stage phenotype, enhanceable by Egfr^JF01084, Scer\GAL4^GMR.PU

(Khare et al., 2017)

Hsap\KCNC3^R423H.UAS, Scer\GAL4^GMR.PU has visible | adult stage phenotype, enhanceable by Egfr^JF01083, Scer\GAL4^GMR.PU