Gene Summary

Name:
pregnancy upregulated non-ubiquitously expressed CaM kinase
Synonyms:
CaMKIbeta2,  Punc,  Camk1b,  Bstk3

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 bone mineral content Pncktm1b(KOMP)Wtsi HOM Early adult 4.99×10-06
hyperactivity Pncktm1b(KOMP)Wtsi HOM Early adult 1.63×10-05
decreased tidal volume Pncktm1b(KOMP)Wtsi HOM Early adult 4.79×10-06
decreased pulmonary respiratory rate Pncktm1b(KOMP)Wtsi HEM Early adult 4.62×10-05
decreased tidal volume Pncktm1b(KOMP)Wtsi HEM Early adult 2.69×10-07
decreased pulmonary ventilation Pncktm1b(KOMP)Wtsi HEM Early adult 1.23×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Forepaw

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

Human diseases caused by Pnck 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 Pnck by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
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
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea OMIM:267450
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Central hypoventilation OMIM:619483
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea OMIM:263000
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cardiomyopathy, Dilated, 2H
Tachypnea OMIM:620203
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea OMIM:616414
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation OMIM:300673
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Infant Acute Respiratory Distress Syndrome
Tachypnea, Nasal flaring ORPHA:70587
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea ORPHA:60032
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea OMIM:614299
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation OMIM:617143
Acute Lung Injury
Respiratory distress, Tachypnea ORPHA:178320
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Multifocal Atrial Tachycardia
Tachypnea ORPHA:3282
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Apnea ORPHA:79264
Citrullinemia Type I
Tachypnea ORPHA:247525
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea OMIM:253270
Atypical Rett Syndrome
Episodic tachypnea, Sudden episodic apnea ORPHA:3095
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Joubert Syndrome 3
Episodic tachypnea, Central apnea OMIM:608629
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation OMIM:618232
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
High Altitude Pulmonary Edema
Tachypnea ORPHA:330012
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy ORPHA:348
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Pyruvate Dehydrogenase Deficiency
Tachypnea ORPHA:765
Primary Pulmonary Hypoplasia
Tachypnea, Apnea ORPHA:2257
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea OMIM:604320
Central Hypoventilation Syndrome, Congenital, 1
Nocturnal hypoventilation, Apnea, Hypoventilation, Central hypoventilation OMIM:209880
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea OMIM:614857
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea OMIM:615838
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea OMIM:613320
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea ORPHA:36238
Postpoliomyelitis Syndrome
Hypoventilation ORPHA:2942
Perry Syndrome
Hypoventilation, Central hypoventilation OMIM:168605
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea OMIM:610978
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea ORPHA:26793
Histidinemia
Hyperactivity ORPHA:2157
Surfactant Metabolism Dysfunction, Pulmonary, 1
Tachypnea, Apnea OMIM:265120
Avian Influenza
Respiratory distress, Tachypnea ORPHA:454836
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea OMIM:201475
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea ORPHA:217563
Cholera
Hyperventilation, Tachypnea ORPHA:173
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea ORPHA:542323
Acute Interstitial Pneumonia
Tachypnea ORPHA:79126
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea ORPHA:860
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea OMIM:615934
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Tachypnea, Apnea OMIM:610921
Joubert Syndrome
Episodic tachypnea, Apnea ORPHA:475
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Double Outlet Right Ventricle
Tachypnea ORPHA:3426
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
Coronary Arterial Fistula
Tachypnea ORPHA:2041
Serotonin Syndrome
Tachypnea ORPHA:43116
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea ORPHA:20
Beta-Ketothiolase Deficiency
Tachypnea ORPHA:134
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea ORPHA:397715
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation ORPHA:98915
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea ORPHA:36234
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea OMIM:610913
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation OMIM:620275
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Hypoventilation OMIM:619482
Muscular Dystrophy, Duchenne Type
Hypoventilation OMIM:310200
Cocaine Intoxication
Respiratory distress, Hyperventilation, Tachypnea ORPHA:90068
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions ORPHA:1329
Hyperparathyroidism, Neonatal Severe
Tachypnea OMIM:239200
Joubert Syndrome 2
Episodic tachypnea, Central apnea OMIM:608091
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress ORPHA:31826
Rh Deficiency Syndrome
Tachypnea ORPHA:71275
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Joubert Syndrome 1
Episodic tachypnea, Central apnea OMIM:213300
Congenital Tricuspid Valve Dysplasia
Tachypnea ORPHA:555874
Bethlem Muscular Dystrophy
Hypoventilation ORPHA:610
Smooth Muscle Dysfunction Syndrome
Tachypnea OMIM:613834
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation OMIM:618493
Rabin-Pappas Syndrome
Hypoventilation OMIM:620155
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Apnea ORPHA:2754
Malignant Hyperthermia Of Anesthesia
Tachypnea ORPHA:423
Pyruvate Carboxylase Deficiency
Tachypnea ORPHA:3008
Proximal Spinal Muscular Atrophy
Hypoventilation ORPHA:70
Atrial Septal Defect, Ostium Primum Type
Tachypnea ORPHA:99106
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Hypoventilation ORPHA:258
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Joubert Syndrome 5
Episodic tachypnea, Central apnea OMIM:610188
Prader-Willi Syndrome
Hypoventilation OMIM:176270
Histiocytoid Cardiomyopathy
Tachypnea ORPHA:137675
Double Outlet Left Ventricle
Tachypnea ORPHA:3427
Arima Syndrome
Tachypnea OMIM:243910
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea OMIM:618278
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea OMIM:613658
Aortic Arch Interruption
Respiratory distress, Tachypnea ORPHA:2299
Pulmonary Alveolar Microlithiasis
Tachypnea ORPHA:60025
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation ORPHA:99949
Scorpion Envenomation
Tachypnea ORPHA:466677
Exercise-Induced Malignant Hyperthermia
Tachypnea ORPHA:466650
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation OMIM:203700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Central hypoventilation ORPHA:293987
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Hypoventilation ORPHA:438213
Truncus Arteriosus
Tachypnea ORPHA:3384
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Hypoventilation OMIM:620455
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation ORPHA:731
Goodpasture Syndrome
Tachypnea OMIM:233450

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 Pnck

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 Pnck.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pncktm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pncktm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pncktm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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