Gene Summary

Name:
calcium/calmodulin-dependent protein kinase II, beta
Synonyms:
CaMK II

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 prepulse inhibition Camk2btm1b(EUCOMM)Hmgu HET Early adult 3.83×10-08
hyperactivity Camk2btm1b(EUCOMM)Hmgu HET   Early adult 2.25×10-06
decreased vertical activity Camk2btm1b(EUCOMM)Hmgu HET   Early adult 5.46×10-05
improved glucose tolerance Camk2btm1b(EUCOMM)Hmgu HET Early adult 1.52×10-05
decreased anxiety-related response Camk2btm1b(EUCOMM)Hmgu HET   Early adult 2.26×10-05
preweaning lethality, incomplete penetrance Camk2btm1b(EUCOMM)Hmgu HOM   Early adult 0.00723

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 Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Camk2b 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 Camk2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Inability to walk, Poor eye contact, Small for gestational age, Short stature, Hyperkinet... OMIM:617799
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Short stature, Chorea, Spasticity, Eyelid myoclonus ORPHA:178469

The table below shows human diseases predicted to be associated to Camk2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Ataxia, Babinski sign, Sensory ataxia OMIM:256860
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Posterior Column Ataxia
Impaired proprioception, Impaired vibratory sensation, Ataxia OMIM:176250
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Myasthenic Syndrome, Congenital, 18
Ataxia, Fatigable weakness, Difficulty walking OMIM:616330
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... ORPHA:101108
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia 45
Ataxia, Gait ataxia, Limb ataxia OMIM:617769
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Creutzfeldt-Jakob Disease
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... OMIM:123400
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... OMIM:615483
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordinat... OMIM:603218
Geniospasm 1
Anxiety OMIM:190100
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Irritabi... OMIM:606438
Immunodeficiency 8
Hyperactivity OMIM:615401
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Truncal ataxia, Dysmetria OMIM:617584
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... OMIM:613908
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder, Bradykinesia OMIM:618878
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Falls, Mo... ORPHA:412066
Spinocerebellar Ataxia, Autosomal Recessive 22
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... OMIM:616948
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... OMIM:604326
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Cachexia, Depression, Anxiety, Babinski sign, Parkinsoni... OMIM:618093
Glycine Encephalopathy
Impulsivity, Hyperactivity, Aggressive behavior, Lethargy, Irritability OMIM:605899
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Spinocerebellar Ataxia, Autosomal Recessive 26
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... OMIM:617633
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Hyperactivity, Aggressive behavior OMIM:604317
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Depression,... ORPHA:248111
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... ORPHA:168782
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity OMIM:619970
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
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Abnormal social behavior, Semantic dementia, Myoclonus, Parkinsonism, Memory ... ORPHA:1020
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Bradykinesia, Inappropriate behavior, Self-biting, Nail-b... OMIM:619827
Fraxe Intellectual Disability
Impulsivity, Hyperactivity, Aggressive behavior ORPHA:100973
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Mental dete... OMIM:300623
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Short stature, Cognitive im... ORPHA:309246
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Depression, Myoclonus, Parkinsonism, Truncal ataxia, Memory impairment... OMIM:137440
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior OMIM:609425
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Depression, Anxiety, Gait ataxia, Attention deficit hyperactivity dis... ORPHA:98818
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior OMIM:619470
Dentatorubral Pallidoluysian Atrophy
Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb ataxia, Cognitive impairm... ORPHA:101
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Aggressive behavior OMIM:300983
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity OMIM:619927
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:271980
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior OMIM:612716
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter ORPHA:411515
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior OMIM:619467
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggre... ORPHA:485350
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior OMIM:301013
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intentio... ORPHA:309271
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Female Restricted Epilepsy With Intellectual Disability
Impulsivity, Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Cln5 Disease
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Anxiety, Truncal ataxia,... ORPHA:228360
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait OMIM:617865
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior ORPHA:457260
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Impulsivity, Hyperactivity, Gait ataxia, Aggressive behavior ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... ORPHA:309263
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Neonatal hypoglycemia OMIM:617600
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Gait disturbance, Attention deficit hyperactivity d... ORPHA:43
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... OMIM:103050
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Abnormal social behavior, Mental deterioration, Chorea, Tremor, Lower limb spa... ORPHA:646
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior OMIM:610042
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Bradykinesia, Dysmetria, Impulsivity, Dysdiadochokinesis, Gait ataxia, Emotional l... OMIM:610217
X-Linked Creatine Transporter Deficiency
Self-mutilation, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggressive behavior, Skin-picking ORPHA:163681
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Inability to walk, Poor eye contact, Small for gestational age, Short stature, Hyperkinet... OMIM:617799
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Choreoacanthocytosis
Loss of ambulation, Apathy, Hyperactivity, Bradykinesia, Self-injurious behavior, Irritability, D... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Bradykinesia, Depression, Gait disturbance, Choreoathetosis OMIM:234200
Histidinemia
Hyperactivity ORPHA:2157
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Short stature, Chorea, Spasticity, Eyelid myoclonus ORPHA:178469

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 Camk2b

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 Camk2b.

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

Title Journal IMPC Allele PubMed ID
Effects of HIV-1 Tat on oligodendrocyte viability are mediated by CaMKII╬▓-GSK3╬▓ interactions. Journal of neurochemistry (March 2019) Camk2btm1a(EUCOMM)Hmgu 30674062

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MGI Allele Allele Type Produced
Camk2btm40351(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Camk2btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Camk2btm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Camk2btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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