Gene Summary

Name:
potassium voltage-gated channel, subfamily Q, member 3
Synonyms:
N/A

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 snout morphology Kcnq3em1(IMPC)H HOM Early adult 4.52×10-19
increased exploration in new environment Kcnq3em1(IMPC)H HOM Early adult 5.82×10-07
increased blood urea nitrogen level Kcnq3em1(IMPC)H HOM Early adult 6.00×10-07
hyperactivity Kcnq3em1(IMPC)H HOM Early adult 1.61×10-07

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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.

Phenotype associated images not available

Human diseases caused by Kcnq3 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 Kcnq3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kcnq3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Mental Retardation, Autosomal Dominant 3
Seizure OMIM:612580
Mental Retardation, Autosomal Dominant 41
Seizure OMIM:616944
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Intellectual Developmental Disorder, Autosomal Recessive 52
Seizure OMIM:616887
Mental Retardation, Autosomal Dominant 2
Seizure OMIM:614113
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, X-Linked 88
Seizure OMIM:300852
Mental Retardation, Autosomal Recessive 10
Seizure OMIM:611096
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Focal impaired awareness seizure, Focal cortical dysplasia type II, Astrocyto... OMIM:607341
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Sporadic Creutzfeldt-Jakob Disease
Myoclonus, Gliosis, Astrocytosis, Cerebral atrophy, Cerebral cortex with spongiform changes, Hype... ORPHA:204
Azotemia, Familial
Azotemia OMIM:109160
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Temporal cortical atrophy, Abnormal cerebral white matter morpho... ORPHA:100070
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Behavioral Variant Of Frontotemporal Dementia
Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy, Bilateral tonic-cloni... ORPHA:275864
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Photosensitive myoclonic seizure, Focal motor seizure, Astrocytosis OMIM:172500
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Myoclonus, Cerebral cortical atrophy, Astrocytosis OMIM:600795
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Astrocytosis OMIM:600333
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... OMIM:619191
Familial Infantile Bilateral Striatal Necrosis
Myoclonus, Basal ganglia gliosis, Astrocytosis, Basal ganglia cysts, Small basal ganglia, Atrophy... ORPHA:225154
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Lethargy OMIM:605899
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... OMIM:605361
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration OMIM:615924
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Seizure, Megalencephaly, Astrocytosis OMIM:611087
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment, Hyperlysinemia OMIM:238700
Aminoacylase 1 Deficiency
Hyperactivity, Wide nasal bridge OMIM:609924
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Inherited Creutzfeldt-Jakob Disease
Focal T2 hyperintense basal ganglia lesion, Myoclonus, Astrocytosis, Seizure, Diffuse spongiform ... ORPHA:282166
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Wide nasal bridge OMIM:616977
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia, Wide nasal bridge OMIM:300983
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... ORPHA:248111
Phenylketonuria
Maternal hyperphenylalaninemia, Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Hype... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Hyperactivity, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Myoclonus, Gliosis, Astrocytosis, Status epilepticus, Epilepsia partialis continua, Cerebral cort... OMIM:203700
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, Autosomal Recessive 70
Attention deficit hyperactivity disorder, Wide nasal bridge OMIM:618402
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Wide nasal bridge OMIM:618342
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Short nose OMIM:617752
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior, Long nose ORPHA:85327
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Elevated circulating gamma-a... OMIM:271980
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Cognitive impairment, Increased blood urea nitroge... OMIM:235400
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Short nose, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Seizure, Pachygyria, Cerebral edema, Focal-onset seizure, Lissencephaly, Generalize... ORPHA:258
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria ORPHA:94088
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior, Short nose OMIM:300558
Gand Syndrome
Hyperactivity, Wide nasal bridge OMIM:615074
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Hyperactivity, Happy demeanor, Broad-based gait ORPHA:411515
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Hypertriglyce... ORPHA:363400
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619467
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Wide nasal bridge OMIM:613192
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Wide nasal bridge, Broad-based gait OMIM:300958
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen OMIM:223900
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk OMIM:618718
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Gait disturbance, Ataxia, Difficulty walking ORPHA:90321
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal globus pallidus morphology, Abnormal basal ganglia MRI signal intensity, Microcephaly, A... ORPHA:309854
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Morning myoclonic jerks, Status ep... ORPHA:307
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior ORPHA:101039
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Self-mutilation, Hyperactivity,... ORPHA:52503
Cockayne Syndrome Type 3
Cerebral white matter atrophy, Astrocytosis, Seizure, Subcortical white matter calcifications, Pr... ORPHA:90324
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Short nose OMIM:300143
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Myoclonic-Astatic Epilepsy
Wide nasal bridge, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder... ORPHA:1942
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Smith-Magenis Syndrome
Self-mutilation, Wide nasal bridge, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, He... OMIM:182290
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Hyperactivity, Aggressive behavior OMIM:616809
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... ORPHA:168491
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Short nose, Hyperactivity, Inability to wal... OMIM:103050
Benign Familial Neonatal Epilepsy
Limb myoclonus, Focal clonic seizure, Focal tonic seizure, Status epilepticus, Focal autonomic se... ORPHA:1949
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Psychomotor deterioration,... ORPHA:35069
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Short nose, Hyperactivity, Ataxia OMIM:601853
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Hyperactivity, Attention d... ORPHA:43
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolera... ORPHA:163681
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Short nose, Hyperactivity, Ataxia, Anxiety OMIM:618430
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Self-mutilation, Hyperactivity, Low frustration tolerance, Gait ataxia OMIM:300486
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Wide nasal bridge, Broad-based gait OMIM:609625
16P12.1P12.3 Triplication Syndrome
Skin-picking, Short nose, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-... ORPHA:485405
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Mental ... OMIM:610217
Glass Syndrome
Happy demeanor, Long nose, Aggressive behavior, Hyperactivity, Broad-based gait OMIM:612313
Myopathy With Extrapyramidal Signs
Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extremely elevated ... OMIM:615673
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Happy demeanor, Ataxia OMIM:614104
Argininemia
Spastic gait, Hyperammonemia, Hyperactivity, Irritability, Hyperargininemia OMIM:207800
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Wide nasal bridge, Hyperac... OMIM:123450
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactivity, Inabil... ORPHA:139396
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Short nose OMIM:614613
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance OMIM:309520
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Short nose, Wide nasal bridge, Hyperactivity, Ataxia ORPHA:369891
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Increased blood... ORPHA:447
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hyperbilirubinemia ORPHA:73272
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Hyperactivity, Ataxia ORPHA:760
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short nose, Wide nasal bridge OMIM:615873
Intellectual Developmental Disorder, X-Linked 98
Long nose, Self-biting, Aggressive behavior, Short nose, Hyperactivity, Ataxia, Anxiety OMIM:300912
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Hyperactivity, Inability to walk, A... ORPHA:72
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dementia, Dystonia, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Mental deter... OMIM:234200
16P11.2P12.2 Microdeletion Syndrome
Hyperactivity, Short nose, Long nose ORPHA:261211
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Wide nasal bridge OMIM:618505
Wiedemann-Steiner Syndrome
Aggressive behavior, Short nose, Wide nasal bridge, Hyperactivity, Low frustration tolerance, Psy... ORPHA:319182
Hyperlysinemia
Hypoornithinemia, Dysmetria, Hyperammonemia, Hyperactivity, Tip-toe gait, Hyperlysinemia ORPHA:2203
Legius Syndrome
Attention deficit hyperactivity disorder, Dystonia, Cognitive impairment, Hyperactivity ORPHA:137605
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Wide nasal bridge ORPHA:447997
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Torticollis, Suicidal ideation, Cognitive impairment, Aggressive beha... OMIM:619475
Mucopolysaccharidosis Type 2
Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Wide nasal bridg... ORPHA:580
Maternal Phenylketonuria
Hyperactivity, Wide nasal bridge ORPHA:2209
Mend Syndrome
Hyperactivity, Aggressive behavior, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol ORPHA:401973
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Oculoectodermal Syndrome
Hyperactivity, Wide nasal bridge OMIM:600268
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Attention deficit hyperacti... ORPHA:805
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Wide nasal bridge ORPHA:48652
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Difficulty walking, Abnormal emotion/affect behavior, Nail-biting ORPHA:642

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 Kcnq3

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 Kcnq3.

No publications found that use IMPC mice or data for Kcnq3.

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MGI Allele Allele Type Produced
Kcnq3em2(IMPC)H Exon Deletion Mice
Kcnq3em1(IMPC)H Exon Deletion Mice
Kcnq3em3(IMPC)H Exon Deletion Mice

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