Gene Summary

Name:
potassium voltage gated channel, Shab-related subfamily, member 2
Synonyms:
Kv2.2,  9630047L19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Kcnb2em1(IMPC)J HOM   Early adult 3.26×10-07

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Kcnb2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kcnb2 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
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Sotos Syndrome 3
Hyperactivity OMIM:617169
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Dementia, Memory impairment, Narcolepsy, Ataxia OMIM:604121
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Narcolepsy 7
Narcolepsy OMIM:614250
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Histidinemia
Hyperactivity ORPHA:2157
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Memory impairment, Mental deterioration, Ataxia ORPHA:314404
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Narcolepsy, Aggressive behavior, ... ORPHA:646
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Gand Syndrome
Hyperactivity OMIM:615074
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Gait ataxia, Ataxia, Hyperactivity ORPHA:363400
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Fragile X Syndrome
Hyperactivity OMIM:300624
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
African Trypanosomiasis
Narcolepsy, Aggressive behavior, Akinesia, Difficulty walking, Apathy, Gait disturbance, Irritabi... ORPHA:3385
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Narcolepsy, Aggressive behavior, Emotional lability ORPHA:293987
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity ORPHA:139396
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Argininemia
Spastic gait, Hyperactivity OMIM:207800

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 Kcnb2

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 Kcnb2.

No publications found that use IMPC mice or data for Kcnb2.

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MGI Allele Allele Type Produced
Kcnb2em1(IMPC)J Indel causing a Frameshift Mutation Mice

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