Gene Summary

Name:
potassium voltage gated channel, Shaw-related subfamily, member 3
Synonyms:
KShIIID,  Kv3.3,  Kcr2-3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Kcnc3em1(IMPC)J HOM Early adult 6.01×10-11
hyperactivity Kcnc3em1(IMPC)J HOM   Late adult 6.27×10-11
abnormal sleep behavior Kcnc3em1(IMPC)J HOM   Early adult 5.87×10-05
hyperactivity Kcnc3em1(IMPC)Bay HOM Early adult 4.94×10-06
decreased bone mineral content Kcnc3em1(IMPC)J HOM Late adult 3.51×10-05
decreased bone mineral density Kcnc3em1(IMPC)J HOM Late adult 1.19×10-06
decreased grip strength Kcnc3em1(IMPC)J HOM Late adult 6.54×10-06
increased vertical activity Kcnc3em1(IMPC)J HOM Late adult 2.85×10-07
increased grip strength Kcnc3em1(IMPC)Bay HOM Early adult 6.22×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Forepaw

19 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Skull Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Eye Morphology

VIP of left eye

15 Images

Sleep Wake

Wake state (bmp file)

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography 2

Rod and cone PDF

3 Images

Human diseases caused by Kcnc3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Kcnc3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb dysmetria, Limb ataxia, Gait ataxia OMIM:605259
Spinocerebellar Ataxia Type 13
Difficulty walking, Dysphagia, Limb ataxia, Gait ataxia ORPHA:98768

The table below shows human diseases predicted to be associated to Kcnc3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Elbow flexion contracture, Abnormal repetit... OMIM:619470
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... OMIM:620141
Narcolepsy 3
Narcolepsy OMIM:609039
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Joint hypermobility, Impulsivity OMIM:300143
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Narcolepsy 1
Narcolepsy OMIM:161400
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Dense calvaria, Joint stiffness, Aggressive behavior OMIM:252920
Narcolepsy 7
Narcolepsy OMIM:614250
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Dense calvaria, Joint stiffness OMIM:252900
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantru... ORPHA:449291
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Athetosis, Joint hyperflexibility, Self-mutilation ORPHA:52503
Histidinemia
Hyperactivity ORPHA:2157
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Narcolepsy, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyp... ORPHA:293987
Niemann-Pick Disease Type C
Aggressive behavior, Narcolepsy, Disinhibition, Compulsive behaviors, Dysphagia ORPHA:646
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
African Trypanosomiasis
Narcolepsy, Aggressive behavior ORPHA:3385
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb dysmetria, Limb ataxia, Gait ataxia OMIM:605259
Spinocerebellar Ataxia Type 13
Difficulty walking, Dysphagia, Limb ataxia, Gait ataxia ORPHA:98768

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kcnc3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kcnc3.

No publications found that use IMPC mice or data for Kcnc3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kcnc3em1(IMPC)J Inter-exon deletion Mice
Kcnc3tm87170(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kcnc3em1(IMPC)Bay Exon Deletion Mice

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