Gene Summary

Name:
potassium voltage-gated channel, Shal-related family, member 3
Synonyms:
Kv4.3,  potassium channel Kv4.3L,  potassium channel Kv4.3M

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
decreased blood urea nitrogen level Kcnd3em1(IMPC)J HOM Early adult 4.68×10-05
hyperactivity Kcnd3em1(IMPC)J HOM   Late adult 1.96×10-07
decreased thigmotaxis Kcnd3em1(IMPC)J HOM Early adult 5.85×10-08
decreased locomotor activity Kcnd3em1(IMPC)J HOM   Early adult 1.04×10-06
decreased exploration in new environment Kcnd3em1(IMPC)J HOM   Early adult 1.71×10-06
increased vertical activity Kcnd3em1(IMPC)J HOM Early adult 4.32×10-17
hyperactivity Kcnd3em1(IMPC)J HOM   Early adult 4.97×10-05

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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Kcnd3 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 Kcnd3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Truncal ataxia, Gait ataxia OMIM:607346
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Limb ataxia, Truncal ataxia, Difficulty walking ORPHA:98772
Brugada Syndrome 9
OMIM:616399
Brugada Syndrome
ORPHA:130

The table below shows human diseases predicted to be associated to Kcnd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Immunodeficiency 8
Hyperactivity OMIM:615401
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... OMIM:619191
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder, Bradykinesia OMIM:618878
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619639
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, ... ORPHA:412066
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Glycine Encephalopathy
Hyperactivity, Impulsivity, Irritability, Aggressive behavior, Lethargy OMIM:605899
Spinocerebellar Ataxia 14
Progressive cerebellar ataxia, Dysmetria, Depression, Mental deterioration, Memory impairment, Ga... OMIM:605361
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder OMIM:617863
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity OMIM:617113
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Depression,... ORPHA:248111
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder ORPHA:2382
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Bradykinesia, Inappropriate behavior, Memory impairment, ... OMIM:619827
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Landau-Kleffner Syndrome
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... ORPHA:98818
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... ORPHA:3077
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior OMIM:619470
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Chromosome 3Q29 Deletion Syndrome
Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:609425
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Aggressive behavior OMIM:300983
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter ORPHA:411515
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Paroxysmal bursts of laughter OMIM:618718
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, An... ORPHA:228360
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior ORPHA:457260
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Depression, Anxiety, Aggre... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait OMIM:617865
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Aggressive behavior ORPHA:500180
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Cognitive impairment, Gait disturbance, Disinhibiti... ORPHA:43
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Cognitive impairment, Memory impairment, Attention deficit hype... ORPHA:1929
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior OMIM:300558
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Optic Atrophy 11
Ataxia, Hyperactivity, Dysmetria OMIM:617302
Histidinemia
Hyperactivity ORPHA:2157
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Hyperactivity, Mental deterioration, Anxiety, Gait disturbance, Motor ... ORPHA:168491
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Aggressive behavior OMIM:300958
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Ataxia, Hyperactivity, Gait disturbance, Inappropriate laughter OMIM:614104
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Impulsivity, Mental deterioration, Gait disturbance, Psychomotor deteriora... ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Bradykinesia, Mental deterioration, Dysdiadochokinesis, Ga... OMIM:610217
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
2Q23.1 Microdeletion Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... OMIM:103050
Gomez-Lopez-Hernandez Syndrome
Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Bipolar affecti... OMIM:601853
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Gait ataxia ORPHA:363400
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Progressive language deterioration, Self-mutilation, Mental deterioration,... ORPHA:163681
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Attention deficit hyperactivity disorder... ORPHA:1942
Fragile X Syndrome
Hyperactivity, Self-biting OMIM:300624
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Emotional ... OMIM:301069
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Impulsivity, Hyperactivity, Anxiety, Aggressive behavior OMIM:616977
X-Linked Creatine Transporter Deficiency
Athetosis, Ataxia, Hyperactivity, Self-mutilation ORPHA:52503
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Hyperactivity, Inappropriate laughter ORPHA:98794
Glass Syndrome
Broad-based gait, Happy demeanor, Hyperactivity, Aggressive behavior OMIM:612313
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Low frustration tolerance, Gait ataxia, Hyperactivity, Self-mutilation OMIM:300486
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Memory impairment, Gai... ORPHA:139396
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Truncal ataxia, Gait ataxia OMIM:607346
Citrullinemia Type Ii
Hyperactivity, Irritability, Memory impairment, Aggressive behavior, Lethargy ORPHA:247585
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Bradykinesia, Depression, Mental deterioration, Gait disturbance... OMIM:234200
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Choreoacanthocytosis
Bradyphrenia, Apathy, Head-banging, Self-injurious behavior, Irritability, Loss of ambulation, Hy... ORPHA:2388
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Limb ataxia, Truncal ataxia, Difficulty walking ORPHA:98772
Brugada Syndrome 9
OMIM:616399
Brugada Syndrome
ORPHA:130

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 Kcnd3

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 Kcnd3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dendritic Kv4.2 potassium channels selectively mediate spatial pattern separation in the dentate gyrus. iScience (July 2021) Kcnd3em1(IMPC)J PMC8346659

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MGI Allele Allele Type Produced
Kcnd3tm44931(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kcnd3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Kcnd3em1(IMPC)J Exon Deletion Mice

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