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

IMPC Data Collections

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

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.

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

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 insufficiency, Respiratory failure, Simplified gyral pattern OMIM:618328
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Neonatal death, Respiratory insufficiency due to muscle w... OMIM:611890
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory failure, Respiratory insufficiency due to mus... ORPHA:2590
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Respiratory failure, Respiratory failure requiring ... ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress OMIM:619057
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Dystonia 31
Abnormal posturing OMIM:619565
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Perching Syndrome
Cyanosis OMIM:617055
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure ORPHA:1832
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure, Patent ductus art... OMIM:616867
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Intrauterine growth retardation, Death ... OMIM:245400
Immunodeficiency 95
Respiratory failure OMIM:619773
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Fatigable weakness of neck muscles, Decreased miniature endplate potentials, Fatigable ... ORPHA:98913
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Fatigable weakness of skeletal muscles ORPHA:370968
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy, Polymicrogyria OMIM:610678
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Intrauterine growth retardation, Respiratory failure, Polymicrogyria OMIM:615330
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Respiratory insufficiency OMIM:614399
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure OMIM:263000
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis OMIM:613954
Congenital Neuronal Ceroid Lipofuscinosis
Pachygyria, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Hyperekplexia 4
Respiratory failure OMIM:618011
Breath-Holding Spells
Cyanosis OMIM:607578
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure OMIM:265120
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Pachygyria, Respiratory failure OMIM:614922
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode, Lissencephaly, Simplified gyral pattern ORPHA:284417
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Degeneration of anterior horn cells ORPHA:2254
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Intrauterine growth retardation, Respiratory failur... OMIM:604320
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Immunodeficiency 54
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:609981
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Respiratory failure ORPHA:70587
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin OMIM:620296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Pachygyria, Respiratory failure OMIM:606612
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Pelizaeus-Merzbacher Disease, Connatal Form
Pachygyria, Titubation, Respiratory failure ORPHA:280210
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness of bulbar muscles, Fatiga... ORPHA:803
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure ORPHA:2302
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Respiratory failure OMIM:620326
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Congenital Heart Block
Cyanosis, Intrauterine growth retardation, Patent ductus arteriosus ORPHA:60041
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:605711
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Respiratory failure, Death in infancy ORPHA:1194
Primary Pulmonary Hypoplasia
Cyanosis, Intrauterine growth retardation, Hypoxemia, Neonatal respiratory distress ORPHA:2257
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure OMIM:250940
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria OMIM:618291
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Respiratory failure, Patent ductus arteriosus, Dysgyria OMIM:620327
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Tricuspid Atresia
Cyanosis ORPHA:1209
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Patent ductus arteriosus OMIM:614857
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... OMIM:610921
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure ORPHA:444013
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Chiari Malformation Type Ii
Gray matter heterotopia, Cyanosis OMIM:207950
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Alg1-Cdg
Respiratory failure ORPHA:79327
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Cyanosis, Respiratory failure, Hypoxemia, Respiratory failure re... ORPHA:555874
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ... OMIM:615512
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Cardiorespiratory arrest, Respiratory failure, Fatigable weakness of nec... ORPHA:26791
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Simplified gyral pattern OMIM:614407
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Respiratory failure ORPHA:79126
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Polymicrogyria, Death in infancy, Abnor... OMIM:608836
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Acute Lung Injury
Hypoxemia, Respiratory failure ORPHA:178320
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure ORPHA:3226
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Respiratory failure ORPHA:3240
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Avian Influenza
Hypoxemia, Respiratory failure, Miscarriage ORPHA:454836
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing ORPHA:216866
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Congenital Myasthenic Syndrome
Respiratory arrest, Cyanosis, Intermittent episodes of respiratory insufficiency due to muscle we... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Cyanosis, Intermittent episodes of respiratory insufficiency due to muscle we... ORPHA:98914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Respiratory failure, Polymicrogyria OMIM:616538
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Fatigable weakness of skeletal muscles OMIM:617239
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Respiratory failure, Neonatal death OMIM:616482
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency OMIM:610913
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Intrauterine growth retardation, Death in childhood, Death in infancy,... OMIM:610505
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Respiratory failure ORPHA:36238
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Patent ductus arteriosus ORPHA:3304
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Dravet Syndrome
Cyanotic episode ORPHA:33069
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure ORPHA:542323
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Patent ductus arteriosus ORPHA:860
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing ORPHA:225147
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Patent ductus arteriosus, Jaundice, Respira... OMIM:617248
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Fragile skin, Respiratory failure ORPHA:158687
Unilateral Polymicrogyria
Cyanosis, Abnormal posturing, Perisylvian polymicrogyria ORPHA:268943
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency ORPHA:159
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood OMIM:617186
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle weakness OMIM:220110
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Idiopathic Pulmonary Hemosiderosis
Respiratory failure ORPHA:99931
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Intercostal muscle weakness, Pachygyria, Respiratory failure, Lissence... ORPHA:258
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Fatigable weakness, Hypoxem... ORPHA:60025
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Respiratory failure, Intercostal muscle weakness, Respiratory insu... ORPHA:70
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure ORPHA:98905
Poliomyelitis
Fatigable weakness of respiratory muscles, Respiratory failure, Respiratory failure requiring ass... ORPHA:2912
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Respiratory failure ORPHA:244
Scedosporiosis
Respiratory failure ORPHA:449280
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:308552
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Sandifer Syndrome
Abnormal posturing ORPHA:71272
3-Methylglutaconic Aciduria Type 7
Respiratory failure ORPHA:445038
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:252010
Tetrasomy 5P
Cyanosis ORPHA:3309
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:496641
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in infancy, Respiratory failure, Death in childhood OMIM:620278
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Infantile Krabbe Disease
Respiratory failure ORPHA:206436
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Neonatal respiratory distress, Death in childhood, Death in infancy OMIM:618426
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Mercury Poisoning
Respiratory failure ORPHA:330021
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Cutis marmorata, Purpura, Acrocyanosis, Urticaria ORPHA:183
Meckel Syndrome 14
Cardiorespiratory arrest, Cyanosis OMIM:619879
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory arrest, Respiratory fa... ORPHA:3342
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Congenital Fiber-Type Disproportion Myopathy
Intercostal muscle weakness, Fatigable weakness of bulbar muscles, Respiratory insufficiency due ... ORPHA:2020
Leigh Syndrome
Intrauterine growth retardation, Respiratory failure ORPHA:506
Vici Syndrome
Gray matter heterotopia, Abnormal posturing OMIM:242840
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure OMIM:617301
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Riddle Syndrome
Neonatal asphyxia, Erythema, Conjunctival telangiectasia, Telangiectasia, Respiratory failure ORPHA:420741
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Respiratory failure ORPHA:254528
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis, Respiratory failure requiring assisted ventilation OMIM:620423
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Choanal Atresia
Cyanosis ORPHA:137914
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Malignant Atrophic Papulosis
Telangiectasia of the skin, Respiratory failure ORPHA:679
Bloom Syndrome
Telangiectasia, Intrauterine growth retardation, Cutaneous photosensitivity, Respiratory failure ORPHA:125
Congenital Tracheomalacia
Cyanosis, Neonatal respiratory distress, Patent ductus arteriosus, Respiratory insufficiency ORPHA:95430
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Cutaneous photosensitivity, Respiratory failure ORPHA:647
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Respiratory failure ORPHA:209905
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Fatigable weakness o... ORPHA:365
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Poems Syndrome
Plethora, Acrocyanosis, Respiratory insufficiency due to muscle weakness ORPHA:2905
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Patent ductus arteriosus, Death in infancy OMIM:300868
Listeriosis
Jaundice, Respiratory failure, Miscarriage ORPHA:533
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Myhre Syndrome
Intrauterine growth retardation, Respiratory failure, Patent ductus arteriosus, Respiratory insuf... OMIM:139210
Bickerstaff Brainstem Encephalitis
Respiratory failure, Hypercapnia, Respiratory failure requiring assisted ventilation ORPHA:79138
Tarp Syndrome
Intrauterine growth retardation, Cyanosis ORPHA:2886
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Abetalipoproteinemia
Respiratory failure ORPHA:14
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:613658
Steinert Myotonic Dystrophy
Respiratory insufficiency, Fatigable weakness of bulbar muscles, Respiratory insufficiency due to... ORPHA:273
Congenital Tracheal Stenosis
Neonatal asphyxia, Cyanosis, Patent ductus arteriosus ORPHA:141127
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Respiratory failure, Lissencephaly, Miscarriage ORPHA:96334
Hemorrhagic Fever-Renal Syndrome
Petechiae, Respiratory failure, Ecchymosis ORPHA:340
Ear-Patella-Short Stature Syndrome
Intrauterine growth retardation, Respiratory failure ORPHA:2554
Double Outlet Left Ventricle
Cyanosis, Patent ductus arteriosus ORPHA:3427
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Myasthenia Gravis
Acrocyanosis ORPHA:589
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Polymicrogyria, Intrauterine growth retardation, Patent ductus arteriosus after birth at term, Re... ORPHA:500150
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... OMIM:187300
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis, Patent ductus arteriosus ORPHA:980
Esophageal Atresia
Cyanosis ORPHA:1199
Fraser Syndrome 2
Respiratory failure OMIM:617666
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Respiratory failure ORPHA:2556
Histiocytoid Cardiomyopathy
Cyanosis ORPHA:137675
Niemann-Pick Disease Type C
Jaundice, Respiratory failure, Respiratory insufficiency ORPHA:646
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Patent ductus arteriosus OMIM:306955
Severe Generalized Junctional Epidermolysis Bullosa
Fragile skin, Respiratory failure ORPHA:79404
Dermatomyositis
Erythema, Shawl sign, V-sign, Respiratory insufficiency, Cutaneous photosensitivity, Facial eryth... ORPHA:221
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Tuberous Sclerosis Complex
Respiratory failure, Generalized abnormality of skin ORPHA:805
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cardiorespiratory arrest, Cyanosis ORPHA:293987
Joubert Syndrome 21
Respiratory failure OMIM:615636
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Patent ductus arteriosus ORPHA:99050
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Respiratory failure ORPHA:731
Costello Syndrome
Respiratory failure, Respiratory insufficiency OMIM:218040
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Intrauterine growth retardation, Respiratory failure ORPHA:2636
Aortic Arch Interruption
Cyanosis, Patent ductus arteriosus ORPHA:2299
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Truncus Arteriosus
Cyanosis, Intrauterine growth retardation, Patent ductus arteriosus ORPHA:3384
Nocardiosis
Respiratory failure ORPHA:31204
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:304120
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Eisenmenger Syndrome
Cyanosis, Hypoxemia, Patent ductus arteriosus ORPHA:97214
Postinfectious Vasculitis
Cutis marmorata, Palpable purpura, Acrocyanosis, Vasculitis in the skin ORPHA:48435
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis ORPHA:51
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Patent ductus arteriosus ORPHA:216694
Ulbright-Hodes Syndrome
Respiratory failure, Severe intrauterine growth retardation ORPHA:3404
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Patent ductus arteriosus, Respiratory failure requiring assisted ventilation ORPHA:99125
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Generalized Arterial Calcification Of Infancy
Cyanosis ORPHA:51608
Goodpasture Syndrome
Cyanosis OMIM:233450
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Bruising susceptibility 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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