Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 pulmonary respiratory rate | Pncktm1b(KOMP)Wtsi | HEM | Early adult | 4.62×10-05 | ||
decreased pulmonary ventilation | Pncktm1b(KOMP)Wtsi | HEM | Early adult | 1.23×10-05 | ||
hyperactivity | Pncktm1b(KOMP)Wtsi | HOM | Early adult | 1.63×10-05 | ||
increased bone mineral content | Pncktm1b(KOMP)Wtsi | HOM | Early adult | 4.99×10-06 | ||
decreased tidal volume | Pncktm1b(KOMP)Wtsi | HEM | Early adult | 2.69×10-07 | ||
decreased tidal volume | Pncktm1b(KOMP)Wtsi | HOM | Early adult | 4.79×10-06 |
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 predicted to be associated to Pnck by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Attention Deficit-Hyperactivity Disorder | Hyperactivity, Attention deficit hyperactivity disorder | 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 | Hyperactivity, Bruxism, Aggressive behavior | OMIM:615493 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Hyperactivity, Bruxism, Aggressive behavior | ORPHA:356996 | |
Smith-Magenis syndrome | Hyperactivity, Self-mutilation, Motor stereotypy | DECIPHER:8 | |
Intellectual Developmental Disorder, X-Linked 72 | Hyperactivity, Motor stereotypy | OMIM:300271 | |
Intellectual Developmental Disorder, X-Linked 109 | Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... | OMIM:309548 | |
Fraxe Intellectual Disability | Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... | ORPHA:100973 | |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting | Hyperactivity, Dysphagia, Impulsivity | OMIM:620448 | |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies | Hyperactivity, Self-injurious behavior, Aggressive behavior | OMIM:619031 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type | Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity | OMIM:301008 | |
Developmental And Epileptic Encephalopathy 104 | Hyperactivity, Self-injurious behavior, Agitation | OMIM:619970 | |
Intellectual Developmental Disorder, X-Linked 77 | Hyperactivity | OMIM:300454 | |
Chronic Pneumonitis Of Infancy | Respiratory distress, Tachypnea, Intercostal retractions, Hyperventilation | ORPHA:91359 | |
Developmental And Epileptic Encephalopathy 43 | Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity | OMIM:617113 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type | Hyperactivity, Inflexible adherence to routines | OMIM:301076 | |
Glycine Encephalopathy 1 | Hyperactivity, Restlessness, Impulsivity, Aggressive behavior | OMIM:605899 | |
Joubert Syndrome 23 | Tachypnea, Apnea | OMIM:616490 | |
Intellectual Developmental Disorder, Autosomal Dominant 67 | Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics | OMIM:619927 | |
Respiratory Distress Syndrome In Premature Infants | Tachypnea, Respiratory distress | OMIM:267450 | |
Central Hypoventilation Syndrome, Congenital, 3 | Apnea, Central hypoventilation | OMIM:619483 | |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly | Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... | OMIM:619827 | |
Female Restricted Epilepsy With Intellectual Disability | Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior | ORPHA:101039 | |
Methionine Malabsorption Syndrome | Tachypnea | OMIM:250900 | |
Interstitial Pneumonitis, Desquamative, Familial | Tachypnea, Respiratory distress | 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 | Tachypnea, Respiratory distress | ORPHA:45452 | |
Surfactant Metabolism Dysfunction, Pulmonary, 4 | Tachypnea | OMIM:300770 | |
Joubert Syndrome 7 | Tachypnea, Central apnea, Episodic tachypnea | OMIM:611560 | |
Developmental Delay, Language Impairment, And Ocular Abnormalities | Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... | OMIM:620141 | |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency | Tachypnea | OMIM:245050 | |
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 | Apnea, Episodic tachypnea | OMIM:612285 | |
Hereditary Pulmonary Alveolar Proteinosis | Tachypnea, Respiratory distress | 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 | Tachypnea, Respiratory distress | ORPHA:60032 | |
Holocarboxylase Synthetase Deficiency | Tachypnea, Respiratory distress | ORPHA:79242 | |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia | Tachypnea, Respiratory distress | OMIM:614299 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 | Episodic tachypnea | OMIM:615160 | |
Myasthenic Syndrome, Congenital, 20, Presynaptic | Hypoventilation, Apnea | OMIM:617143 | |
Acute Lung Injury | Tachypnea, Respiratory distress | 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 | Apnea, Episodic tachypnea | ORPHA:79264 | |
Citrullinemia Type I | Tachypnea | ORPHA:247525 | |
Holocarboxylase Synthetase Deficiency | Tachypnea, Hyperventilation | OMIM:253270 | |
Atypical Rett Syndrome | Sudden episodic apnea, Episodic tachypnea | ORPHA:3095 | |
Propionic Acidemia | Tachypnea, Apnea | OMIM:606054 | |
Joubert Syndrome 3 | Central apnea, Episodic tachypnea | OMIM:608629 | |
N-Acetylglutamate Synthase Deficiency | Tachypnea, Respiratory distress | OMIM:237310 | |
Mitochondrial Complex I Deficiency, Nuclear Type 9 | Hypoventilation | OMIM:618232 | |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome | Hyperactivity, Aggressive behavior | ORPHA:85327 | |
High Altitude Pulmonary Edema | Tachypnea | ORPHA:330012 | |
Fructose-1,6-Bisphosphatase Deficiency | Intermittent hyperventilation, Apneic episodes in infancy, Episodic tachypnea, Respiratory distress | ORPHA:348 | |
Tetanus | Tachypnea, Respiratory distress | 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 | Hypoventilation, Nocturnal hypoventilation, Apnea, 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 | Hypoventilation, Apnea, Respiratory distress | ORPHA:314655 | |
Staphylococcal Necrotizing Pneumonia | Tachypnea, Respiratory distress | ORPHA:36238 | |
Postpoliomyelitis Syndrome | Hypoventilation | ORPHA:2942 | |
Perry Syndrome | Hypoventilation, Central hypoventilation | OMIM:168605 | |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction | Tachypnea, Respiratory distress | OMIM:610978 | |
Joubert Syndrome With Oculorenal Defect | Tachypnea, Apnea | ORPHA:2318 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Tachypnea, Episodic tachypnea, Respiratory distress | ORPHA:26793 | |
Histidinemia | Hyperactivity | ORPHA:2157 | |
Surfactant Metabolism Dysfunction, Pulmonary, 1 | Tachypnea, Apnea | OMIM:265120 | |
Avian Influenza | Tachypnea, Respiratory distress | 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 | Tachypnea, Hyperventilation | 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 | Tachypnea, Apnea, Respiratory distress | OMIM:610921 | |
Joubert Syndrome | Apnea, Episodic tachypnea | ORPHA:475 | |
Mogs-Cdg | Hypoventilation, Apnea, Respiratory distress | 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 | Hypoventilation, Respiratory distress | ORPHA:98915 | |
Bacterial Toxic-Shock Syndrome | Tachypnea, Respiratory distress | ORPHA:36234 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 | Hypoventilation | OMIM:620275 | |
Surfactant Metabolism Dysfunction, Pulmonary, 2 | Tachypnea, Respiratory distress | OMIM:610913 | |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction | Hypoventilation, Apnea, Hypopnea | OMIM:619482 | |
Muscular Dystrophy, Duchenne Type | Hypoventilation | OMIM:310200 | |
Cocaine Intoxication | Respiratory distress, Tachypnea, Hyperventilation | 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 | Central apnea, Episodic tachypnea | 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 | Central apnea, Episodic tachypnea | 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 | Apnea, Episodic tachypnea | 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 | Hypoventilation, Aspiration | ORPHA:258 | |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | Tachypnea | ORPHA:415 | |
Joubert Syndrome 5 | Central apnea, Episodic tachypnea | 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 | Tachypnea, Respiratory distress | 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 | Hypoventilation, Apnea | 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 |
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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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