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Gene: Camk2b MGI:88257

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 anxiety-related response Camk2btm1b(EUCOMM)Hmgu HET   Early adult 1.52×10-05
decreased vertical activity Camk2btm1b(EUCOMM)Hmgu HET   Early adult 4.26×10-05
abnormal behavior Camk2btm1b(EUCOMM)Hmgu HET   Early adult 5.68×10-05
decreased prepulse inhibition Camk2btm1b(EUCOMM)Hmgu HET Early adult 6.78×10-08
decreased thigmotaxis Camk2btm1b(EUCOMM)Hmgu HET   Early adult 4.03×10-05
hyperactivity Camk2btm1b(EUCOMM)Hmgu HET   Early adult 7.51×10-06
preweaning lethality, incomplete penetrance Camk2btm1b(EUCOMM)Hmgu HOM   Early adult 0.00723
improved glucose tolerance Camk2btm1b(EUCOMM)Hmgu HET Early adult 1.36×10-05

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 Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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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
Lower limb spasticity, Ataxia, Short stature, Small for gestational age, Aggressive behavior, Ina... OMIM:617799

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Myasthenic Syndrome, Congenital, 18
Fatigable weakness, Ataxia, Difficulty walking OMIM:616330
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... ORPHA:101108
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Myoclonus, Attention deficit hyperactivity disorder, Difficulty wa... OMIM:619191
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Urocanase Deficiency
Broad-based gait, Ataxia, Short stature, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ata... OMIM:276880
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia... OMIM:618093
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Confusion, Aggressive behavior, Rigidity, Chorea, Dysmetr... OMIM:607136
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Postnatal growth retardation, Choreoathetosis, Ga... ORPHA:391417
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Confusion, Hypertonia, Agitation, Disinhibition, Myoclonus, Apraxia, Oculom... ORPHA:1020
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium ORPHA:208441
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Growth delay, Hypertonia, ... OMIM:619738
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... OMIM:137440
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... ORPHA:98818
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Babinski sign, Progressive psychomotor deterioration, Spasticity, D... ORPHA:309271
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Mild postnatal growth retardation, Abnormal temper tantrums, Abnormal soci... ORPHA:530983
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Babinski sign, Progressive psychomotor deterioration, Spasticity, Clumsines... ORPHA:309263
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritability, Self-injurious b... ORPHA:449291
Metachromatic Leukodystrophy, Late Infantile Form
Babinski sign, Spasticity, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe gait, Decere... ORPHA:309256
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... ORPHA:100924
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... OMIM:617600
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... OMIM:610217
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... ORPHA:646
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg ... ORPHA:314647
Childhood Absence Epilepsy
Depression, Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Abnormal social be... ORPHA:64280
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis... OMIM:234200
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Short stature, Small for gestational age, Aggressive behavior, Ina... OMIM:617799
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... ORPHA:353277

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 CaMKIIβ-GSK3β 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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