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Gene: Caprin1 MGI:1858234

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
cell cycle associated protein 1
Synonyms:
Gpiap1,  caprin-1,  MMGPIP137,  RNG105

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Legacy Phenotype Associated Images
Caprin1tm3a(EUCOMM)Wtsi
WT, Male, WTSI
Caprin1tm3a(EUCOMM)Wtsi
WT, Male, WTSI
Caprin1tm3a(EUCOMM)Wtsi
WT, Male, WTSI
Caprin1tm3a(EUCOMM)Wtsi
WT, Male, WTSI
Caprin1tm3a(EUCOMM)Wtsi
WT, Male, WTSI

View all 20 images

Human diseases caused by Caprin1 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 Caprin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency OMIM:618328
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,... ORPHA:90117
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... OMIM:611890
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... OMIM:619057
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Respira... ORPHA:2590
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Dystonia 31
Abnormal posturing OMIM:619565
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of bulbar muscles, Dyspnea, Motor neuron atroph... ORPHA:803
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Patent ductus arteriosus, Abnormal cortical gyration, Respiratory ... OMIM:616867
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency, Fatigable weakness of skeletal muscles ORPHA:370968
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Polymicrogyria, Death in infancy OMIM:610678
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Polymicrogyria, Respiratory insufficiency OMIM:615330
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Pachygyria, Apnea, Respiratory failure ORPHA:168486
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Intrauterine growth retardat... OMIM:604320
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Hyperekplexia 4
Respiratory failure OMIM:618011
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Intrauterine growth retardation, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Breath-Holding Spells
Cyanosis OMIM:607578
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Congenital Heart Block
Cyanosis, Crackles, Patent ductus arteriosus, Intrauterine growth retardation, Pleural effusion ORPHA:60041
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Pachygyria OMIM:614922
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode, Simplified gyral pattern, Lissencephaly ORPHA:284417
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n... OMIM:256000
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure, Pachygyria OMIM:606612
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Pulmonary arterial hypertension, Abnormal posturing, Tachypnea OMIM:614857
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Immunodeficiency 54
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:609981
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Chiari Malformation Type Ii
Gray matter heterotopia, Cyanosis, Inspiratory stridor OMIM:207950
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Macrogyria, Titubation ORPHA:280210
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Cyanosis OMIM:619793
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Perisylvian polymicrogyria, Respiratory insufficiency due to ... OMIM:618291
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Aspiration pneumonia, Cough ORPHA:216866
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Respiratory failure, Death in infancy ORPHA:1194
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Gray matter heterotopia, Restrictive ventilatory defect, Respi... ORPHA:26791
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Tricuspid Atresia
Cyanosis ORPHA:1209
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Patent ductus arteriosus, Respiratory failure, Dysgyria OMIM:620327
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Buerger Disease
Acrocyanosis ORPHA:36258
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Alg1-Cdg
Respiratory failure ORPHA:79327
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Abnormality of neuronal migration, Respir... OMIM:608836
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Fatigable weakness of skeletal muscles OMIM:617239
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Simplified gyral pattern OMIM:614407
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Perisylvian polymicrogyria, Abnormal posturing ORPHA:268943
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Patent ductus arteriosus, Jaundice, Hypopnea, Respiratory failure, Neona... OMIM:617248
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Patent ductus arteriosus, Cyanosis, Tachypnea ORPHA:860
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Polymicrogyria, Agyria OMIM:616538
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Patent ductus arteriosus, Respiratory insufficiency, Respiratory failu... OMIM:610505
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Respiratory failure ORPHA:3240
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Cyanosis ORPHA:3304
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Dravet Syndrome
Cyanotic episode ORPHA:33069
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Titubation ORPHA:225147
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Respiratory failure, Fragile skin ORPHA:158687
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Poliomyelitis
Fatigable weakness of respiratory muscles, Respiratory failure requiring assisted ventilation, Re... ORPHA:2912
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar muscl... ORPHA:2020
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... ORPHA:3342
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis, Abnormal p... ORPHA:31826
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest OMIM:619879
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Nonproductive cough, Patent ductus arteriosus, Dyspnea, Recurrent pneumonia,... ORPHA:980
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Leigh Syndrome
Intrauterine growth retardation, Respiratory failure, Abnormal pattern of respiration ORPHA:506
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Patent ductus arteriosus, Dyspnea, Wheezing, U... ORPHA:141127
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Intraute... ORPHA:125
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Death in chil... OMIM:618278
Esophageal Atresia
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Vici Syndrome
Gray matter heterotopia, Abnormal posturing OMIM:242840
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Respiratory failure ORPHA:254528
Nijmegen Breakage Syndrome
Respiratory failure, Cutaneous photosensitivity, Abnormality of neuronal migration, Recurrent pne... ORPHA:647
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Tarp Syndrome
Intrauterine growth retardation, Cyanosis, Apnea ORPHA:2886
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Double Outlet Left Ventricle
Patent ductus arteriosus, Cyanosis, Tachypnea ORPHA:3427
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido... ORPHA:79404
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Patent ductus arteriosus, Respiratory failure OMIM:300868
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Intrauterine growth retardation... OMIM:613658
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Patent ductus arteriosus, Cyanosis, Exertional dyspnea ORPHA:99050
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cough ORPHA:137675
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Ear-Patella-Short Stature Syndrome
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:2554
Aortic Arch Interruption
Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Exertional dyspnea ORPHA:2299
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Myhre Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Respiratory failure, Respiratory insuf... OMIM:139210
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Pulmonary arterial hypertension, Respiratory failure, Restrictive ventilatory defect... ORPHA:96334
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest ORPHA:293987
Abetalipoproteinemia
Respiratory failure ORPHA:14
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Patent ductus arteriosus... ORPHA:97214
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Patent ductus arteriosus, Cyanosis OMIM:306955
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Niemann-Pick Disease Type C
Jaundice, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Simplified gyral pattern, Respiratory failure, Intr... ORPHA:500150
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Fraser Syndrome 2
Respiratory failure OMIM:617666
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Truncus Arteriosus
Intrauterine growth retardation, Patent ductus arteriosus, Cyanosis, Tachypnea ORPHA:3384
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:2636
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Patent ductus... ORPHA:99125
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Severe intrauterine growth retardation ORPHA:3404
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries
Patent ductus arteriosus, Cyanosis ORPHA:216694
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285

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 Caprin1

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 Caprin1.

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

Title Journal IMPC Allele PubMed ID
Targeted deletion of the RNA-binding protein Caprin1 leads to progressive hearing loss and impairs recovery from noise exposure in mice. Scientific reports (February 2022) Caprin1tm3c(EUCOMM)Wtsi PMC8844073

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Caprin1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Caprin1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Caprin1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Caprin1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Caprin1tm3c(EUCOMM)Wtsi Wild type floxed exon (post-Flp) Mice
Caprin1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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