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
abnormal sleep behavior Kcnc3em1(IMPC)J HOM   Early adult 5.45×10-05
hyperactivity Kcnc3em1(IMPC)J HOM Early adult 1.02×10-10
decreased bone mineral content Kcnc3em1(IMPC)J HOM Late adult 4.78×10-05
decreased bone mineral density Kcnc3em1(IMPC)J HOM Late adult 2.23×10-06
decreased grip strength Kcnc3em1(IMPC)J HOM Late adult 9.22×10-06
increased grip strength Kcnc3em1(IMPC)Bay HOM Early adult 6.22×10-07
preweaning lethality, incomplete penetrance Kcnc3em1(IMPC)Bay HOM   Early adult 0.00
hyperactivity Kcnc3em1(IMPC)Bay HOM Early adult 5.71×10-07
hyperactivity Kcnc3em1(IMPC)J HOM Late adult 9.61×10-11
increased vertical activity Kcnc3em1(IMPC)J HOM Late adult 4.33×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Forepaw

20 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Skull Lateral Orientation

18 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

Auditory Brain Stem Response

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

8 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 Type 13
Torticollis, Bradykinesia, Limb ataxia, Gait ataxia, Difficulty walking ORPHA:98768
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Limb dysmetria OMIM:605259

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
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Narcolepsy 7
Narcolepsy OMIM:614250
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Elbow flexion contracture OMIM:619470
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Morm Syndrome
Hyperactivity ORPHA:75858
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Ck Syndrome
Joint hypermobility, Hyperactivity, Abnormal cortical bone morphology OMIM:300831
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Knee flexion contracture, Osteopenia, Hyperactivity, Flexion contracture, Elbow ... OMIM:616809
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Joint laxity ORPHA:457260
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the hand, Hyperactivity, Attention defic... ORPHA:352490
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Coffin-Siris Syndrome 7
Hyperactivity, Sagittal craniosynostosis OMIM:618027
Ck Syndrome
Joint hypermobility, Hyperactivity ORPHA:251383
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hyperactivity, Dense calvaria OMIM:252900
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Gand Syndrome
Hyperactivity OMIM:615074
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Hyperactivity OMIM:300143
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Fragile X Syndrome
Hyperactivity, Joint laxity OMIM:300624
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hyperactivity, Dense calvaria OMIM:252920
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Histidinemia
Hyperactivity ORPHA:2157
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Hyperactivity, Ataxia, Joint hyperflexibility ORPHA:52503
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Osteoporosis ORPHA:73272
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Craniosynostosis, Limited elbow extension, Broad-based gait OMIM:609625
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Hyperactivity, Limited elbow flexion/extension, Co... ORPHA:166108
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hyperactivity, Dense calvaria OMIM:252930
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity OMIM:619467
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Fused cervical vertebrae ORPHA:530983
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Flexion contracture, Unsteady gait ORPHA:35069
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia ORPHA:314404
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Craniosynostosis, Ataxia OMIM:601853
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Myopathy With Extrapyramidal Signs
Dystonia, Hyperactivity, Ataxia, Difficulty walking, Joint laxity OMIM:615673
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia OMIM:614104
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Inverted Duplicated Chromosome 15 Syndrome
Joint hypermobility, Hyperactivity ORPHA:3306
Mend Syndrome
Hyperactivity OMIM:300960
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
19P13.3 Microduplication Syndrome
Hyperactivity, Osteoporosis ORPHA:447980
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia ORPHA:228402
13Q12.3 Microdeletion Syndrome
Hyperactivity, Camptodactyly ORPHA:412035
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Limitation of movement at ankles, Hyperactivity, Ataxia, Broad-based gait ORPHA:98794
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hamstring contractures, Hyperactivity, Inability to walk, Ataxia, Di... ORPHA:139396
Mucopolysaccharidosis, Type Iiid
Joint stiffness, Hyperactivity, Flexion contracture OMIM:252940
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Niemann-Pick Disease Type C
Dystonia, Gait disturbance, Axial dystonia, Narcolepsy, Progressive gait ataxia, Ataxia, Limb dys... ORPHA:646
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Gait disturbance, Inability to walk, Ataxia ORPHA:168491
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:391307
Glass Syndrome
Hyperactivity, Broad-based gait, Camptodactyly OMIM:612313
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Joint laxity OMIM:615873
Bone Marrow Failure Syndrome 3
Joint hypermobility, Hyperactivity, Reduced bone mineral density OMIM:617052
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Joint laxity ORPHA:449291
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Joint hypermobility, Hyperactivity OMIM:618505
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Flexion contracture, Joint laxity OMIM:309520
Angelman Syndrome
Hyperactivity, Progressive gait ataxia, Broad-based gait OMIM:105830
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Joint hyperflexibility, Broad-based gait, Camptodactyly of finger ORPHA:85293
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia OMIM:300486
Dyggve-Melchior-Clausen Disease
Limited knee extension, Hyperactivity, Inability to walk, Limited elbow extension, Difficulty wal... ORPHA:239
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Osteomyelitis OMIM:256800
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Hyperlysinemia
Dysmetria, Hyperactivity, Craniosynostosis, Tip-toe gait ORPHA:2203
Mucopolysaccharidosis Type 3
Gait disturbance, Loss of ambulation, Increased susceptibility to fractures, Reduced bone mineral... ORPHA:581
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
African Trypanosomiasis
Narcolepsy, Gait disturbance, Difficulty walking, Akinesia ORPHA:3385
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hyperactivity, Attention deficit hyperactivity disorder, Myelofibrosis, Joint laxity OMIM:607721
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Brooks-Wisniewski-Brown syndrome
Hyperactivity, Flexion contracture OMIM:300612
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Abnormal epiphyseal ossification, Hyperactivity, Contractures of the large jo... ORPHA:580
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Joint hypermobility, Hyperactivity ORPHA:457284
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Hyperactivity ORPHA:447997
Choreoacanthocytosis
Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Falls, Bradykinesia, Arthritis, Lar... ORPHA:2388
Spinocerebellar Ataxia Type 13
Torticollis, Bradykinesia, Limb ataxia, Gait ataxia, Difficulty walking ORPHA:98768
Spinocerebellar Ataxia 13
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Limb dysmetria OMIM:605259

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.

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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, Tissue

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