Gene Summary

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

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
increased body length Kcnd3em1(IMPC)J HOM Early adult 2.79×10-05
hyperactivity Kcnd3em1(IMPC)J HOM   Early adult 4.58×10-05
decreased thigmotaxis Kcnd3em1(IMPC)J HOM Early adult 1.40×10-09
decreased exploration in new environment Kcnd3em1(IMPC)J HOM Early adult 4.91×10-06
decreased total body fat amount Kcnd3em1(IMPC)J HOM Early adult 7.17×10-05
decreased blood urea nitrogen level Kcnd3em1(IMPC)J HOM Early adult 2.39×10-05
hyperactivity Kcnd3em1(IMPC)J HOM   Late adult 1.09×10-06
increased vertical activity Kcnd3em1(IMPC)J HOM Early adult 9.93×10-19
hypoactivity Kcnd3em1(IMPC)J HOM   Early adult 5.61×10-05
increased lean body mass Kcnd3em1(IMPC)J HOM Early adult 6.56×10-05

Download data as:  TSV  XLS

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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 Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

6 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
Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia, Cognitive impairment OMIM:607346
Spinocerebellar Ataxia Type 19/22
Truncal ataxia, Difficulty walking, Limb ataxia, Ataxia, Broad-based gait 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
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
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 Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairm... OMIM:605361
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Huntington Disease-Like 2
Dystonia, Dementia, Depression, Apathy, Bradykinesia, Weight loss, Irritability, Anxiety OMIM:606438
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Weight loss, Progressive cereb... ORPHA:248111
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal aggressive, impulsive or violent behavior, Bipolar affective disorder, Aggressive behavi... ORPHA:3077
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Small for gestational age, Anxiety, Failure to thrive, Hyperact... OMIM:609425
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Failure to thrive, Hyperactivity OMIM:618362
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration ORPHA:2382
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Obesity OMIM:618725
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Steppage gait, Depression, Emotional lability, Social and occup... ORPHA:98818
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait, Obesity ORPHA:411515
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Dysmetria, Cognitive impairment, Attention deficit hyperactivity diso... OMIM:614306
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Decreased body weight, Hyperactivity OMIM:618342
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Ck Syndrome
Slender build, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Ck Syndrome
Slender build, Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Reduced intraabdominal adipose tissue, Ataxia, Progressive psychomotor deterioration... ORPHA:363400
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait OMIM:617865
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Graves Disease, Susceptibility To, 1
Irritability, Weight loss, Hyperactivity OMIM:275000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Impulsivity, Depression, Hyperactivity ORPHA:88616
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Failure to thrive, Hyperactivity OMIM:615286
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Cognitive impai... ORPHA:1929
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Mental Retardation, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Flexion contracture, Inguinal hernia, Knee flexion contracture, Hyperactivit... OMIM:616809
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Failure to thrive, Hyperactivity ORPHA:369939
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Decreased body weight, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
13Q12.3 Microdeletion Syndrome
Self-mutilation, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity... ORPHA:412035
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Failure to thrive in infancy, Small for gestati... OMIM:614104
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Flexion contracture, Ataxia, Emotional lab... ORPHA:35069
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Self-injurious behavior, Aggressive behavior, Obesity OMIM:600430
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Dementia, Gait disturbance, Ataxia, Low frustration toler... ORPHA:168491
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Aggressive behavior, Abdominal obesity, Hyperactivity, Mood swings OMIM:300354
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Tall stature, Ataxia, Anxiety, Hyperactivity, Obesity OMIM:618430
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Hyper... OMIM:614294
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity, Cognitive... OMIM:601853
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Hernia, Aggressive behavior, Self-biting ORPHA:3306
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Inappropriate laughter, Aggressive behavior, Hyp... OMIM:103050
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Increased body weight, Hyperactivity OMIM:182290
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A... ORPHA:449291
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait, ... ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Disproportionate tall stature, Flexion contracture, Emotional lability, Low ... OMIM:309520
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Inguinal hernia, Small for gestational ... OMIM:123450
Glass Syndrome
Aggressive behavior, Camptodactyly, Inguinal hernia, Happy demeanor, Hyperactivity, Broad-based gait OMIM:612313
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Ataxia, Hyperactivity OMIM:300912
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity OMIM:614613
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Small for gestational age, Failure to thrive, Hyperactivity, Attention deficit h... ORPHA:73272
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Failure to thrive, Hyperactivity, Attention deficit hyperacti... ORPHA:485405
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Corneal scarring, Hyperactivity, Emotional lability OMIM:256800
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Impulsivity, Tall stature, Hyperactivity ORPHA:8
Fragile X Syndrome
Hyperactivity OMIM:300624
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Aggressive behavior, Obesity, Inguinal hernia, Cachexia, Hyperactivity, ... ORPHA:85293
Mucopolysaccharidosis, Type Iiic
Motor deterioration, Hernia, Hyperactivity OMIM:252930
Angelman Syndrome
Progressive gait ataxia, Obesity, Paroxysmal bursts of laughter, Hyperactivity, Broad-based gait OMIM:105830
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Memory... ORPHA:139396
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Self-injurious behavior, Ataxia, ... ORPHA:72
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Camptodactyly, Ataxia, Umbilical hernia, Hyperactivity, Arthrogryposis-like ... ORPHA:369891
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity OMIM:609152
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity ORPHA:363686
Citrullinemia Type Ii
Decreased body mass index, Lethargy, Aggressive behavior, Irritability, Hyperactivity, Memory imp... ORPHA:247585
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Congenital finger flexion contractures, Hyperactivity ORPHA:166108
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity OMIM:618089
19P13.3 Microduplication Syndrome
Self-injurious behavior, Irritability, Hyperactivity ORPHA:447980
Mend Syndrome
Hyperactivity OMIM:300960
19P13.12 Microdeletion Syndrome
Hyperactivity, Self-injurious behavior, Arthrogryposis multiplex congenita, Obesity ORPHA:254346
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Chromosome 10Q26 Deletion Syndrome
Small for gestational age, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:609625
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Congenital finger flexion contractures, Gait disturbance, Achilles tendon co... ORPHA:363528
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Dementia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, ... OMIM:234200
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hyperactivity OMIM:610883
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Large for gestational age, Hyperactivity ORPHA:457485
Choreoacanthocytosis
Hair-pulling, Weight loss, Emotional lability, Head-banging, Progressive inability to walk, Falls... ORPHA:2388
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Failure to thrive, Mood swings ORPHA:525731
Spinocerebellar Ataxia 19
Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia, Cognitive impairment OMIM:607346
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Obesity OMIM:615873
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
White-Sutton Syndrome
Aggressive behavior, Self-injurious behavior, Inguinal hernia, Congenital diaphragmatic hernia, H... ORPHA:468678
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity OMIM:213300
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Camptodactyly, Failure to thrive in infancy, Hyper... ORPHA:261323
Mucopolysaccharidosis, Type Iiid
Flexion contracture, Hyperactivity OMIM:252940
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Small for gestational age, Aggressive behavior, Hyperactivity OMIM:619148
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
7Q11.23 Microduplication Syndrome
Aggressive behavior, Self-injurious behavior, Unsteady gait, Inguinal hernia, Congenital diaphrag... ORPHA:96121
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity ORPHA:99819
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Low frustration tolerance, Anxiety, Failure to th... ORPHA:319182
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Hernia, Failure to thrive, Hyperactivity OMIM:617052
Koolen-De Vries Syndrome
Impulsivity, Small for gestational age, Anxiety, Failure to thrive, Hyperactivity, Conspicuously ... OMIM:610443
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Disinhibition, Aggressive behavior, Dementia, Hypersexualit... ORPHA:581
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Multiple joint contractures, Irritability, Hyperactivity ORPHA:447997
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Failure to thrive, Hyperactivity ORPHA:239
Tuberous Sclerosis Complex
Shagreen patch, Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, H... ORPHA:805
Monosomy 9Q22.3
Umbilical hernia, Large for gestational age, Tall stature, Hyperactivity ORPHA:77301
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity OMIM:618505
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Keloids, Emotional lability, Social an... ORPHA:353281
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Umbilical hernia, Inguinal hernia, Fle... ORPHA:580
Brain-Lung-Thyroid Syndrome
Dystonia, Ataxia, Falls, Failure to thrive, Hyperactivity ORPHA:209905
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Dystonia, Self-injurious behavior, Umbilical hernia, Failure to thrive, Hyperact... ORPHA:1934
Stankiewicz-Isidor Syndrome
Hyperactivity OMIM:617516
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Atypical scarring of skin,... ORPHA:642
Hyperlysinemia
Failure to thrive, Tip-toe gait, Dysmetria, Hyperactivity ORPHA:2203
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Multiple joint contractures, Small for gestational age, Anxiety, Failure to thr... ORPHA:464306
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Failure to thrive, Hyperactivity, Large for gestational age, Attention deficit h... OMIM:607721
Distal Monosomy 12Q
Self-mutilation, Failure to thrive in infancy, Obesity, Hyperactivity, Elbow flexion contracture,... ORPHA:96149
Brooks-Wisniewski-Brown syndrome
Flexion contracture, Small for gestational age, Hyperactivity OMIM:300612
Witteveen-Kolk Syndrome
Aggressive behavior, Inguinal hernia, Congenital diaphragmatic hernia, Small for gestational age,... OMIM:613406
Mend Syndrome
Aggressive behavior, Failure to thrive, Hyperactivity ORPHA:401973
Monosomy 22Q13.3
Hair-pulling, Umbilical hernia, Hyperactivity, Obesity ORPHA:48652
Coffin-Siris Syndrome
Hernia, Aggressive behavior, Hyperactivity ORPHA:1465
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aggressive behavior, Self-injurious behavior, Agoraphobia, Keloids, Emotional lability, Corneal s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aggressive behavior, Self-injurious behavior, Agoraphobia, Keloids, Emotional lability, Corneal s... ORPHA:353277
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Hyperactivity ORPHA:457284
Rubinstein-Taybi Syndrome 1
Self-mutilation, Enamel hypoplasia, Flexion contracture, Agoraphobia, Keloids, Unsteady gait, Tru... OMIM:180849
Maternal Phenylketonuria
Hyperactivity ORPHA:2209
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Obesity ORPHA:280651
Spinocerebellar Ataxia Type 19/22
Truncal ataxia, Difficulty walking, Limb ataxia, Ataxia, Broad-based gait 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) Targeting vectors
Kcnd3em1(IMPC)J Exon Deletion Mice

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