Gene Summary

Name:
coactivator-associated arginine methyltransferase 1
Synonyms:
Prmt4

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
decreased lymphocyte cell number Carm1tm1b(EUCOMM)Hmgu HET   Early adult 2.91×10-05
preweaning lethality, complete penetrance Carm1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Phenotype associated images not available

Human diseases caused by Carm1 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 Carm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 8
Lymphopenia OMIM:615401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Intrauterine growth retardation OMIM:301021
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Tac... OMIM:265120
Immunodeficiency 19
Lymphopenia OMIM:615617
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea, Respirat... OMIM:263000
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Late inspirat... ORPHA:2302
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Intrauterine growth ret... OMIM:619057
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory insufficiency, Respiratory failure OMIM:228940
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Intrauterine growth retardation, Respiratory distress, Dyspnea ORPHA:1832
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency, Bilateral lung agenesis OMIM:601612
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal pattern of respiration, Coug... ORPHA:724
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B lymphocytopenia,... OMIM:603554
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atelectasis, N... ORPHA:70587
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Intrauterine growth retardation, Neonatal death, Respiratory failure, Death in childhood, Neonata... OMIM:245400
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:611890
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory failure, Dyspnea, Respi... ORPHA:178320
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia, Adrenal hypoplasia, Thymus hype... ORPHA:563609
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:615451
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure... ORPHA:36238
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive ventilatory defect OMIM:614399
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:618291
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615504
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Intrauterine growth retardation, Enamel hypoplasia, Thrombocytosis, Autoimmune hemo... OMIM:243150
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory failure OMIM:614299
3-Methylglutaconic Aciduria, Type Viii
Apnea, Death in infancy, Respiratory failure OMIM:617248
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HRCT,... ORPHA:99931
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Respiratory failure OMIM:600333
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Intrauterine growth retardation, Respirato... OMIM:609981
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphop... ORPHA:444463
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615505
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal thickening, Exertional dysp... OMIM:614370
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased proportion... OMIM:617514
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Respiratory tract i... ORPHA:244
Hyperekplexia 4
Respiratory failure OMIM:618011
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation OMIM:615330
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Asthma, Cough, ... OMIM:616037
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Oxygen desatu... ORPHA:60025
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Hyp... OMIM:612541
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Intrauterine growth retardation OMIM:610678
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Ciliary dyskine... OMIM:614874
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator ... OMIM:604320
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Death in childhood, Hypoplasia of the thymus, Ca... OMIM:214110
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Pleural effusion, Coug... ORPHA:454836
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, Orthopnea, Reduced vital... ORPHA:98913
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Obstructive sleep apnea, Central sleep apnea ORPHA:70472
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration OMIM:256000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Dyspnea ORPHA:352447
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Omphalocele, Intrauterine growth retardation OMIM:617022
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Intrauterine growth retardation ORPHA:1194
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure, Respiratory failure requiring assisted ventil... OMIM:310400
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Obstructive sleep apnea, Intercostal muscle weakness OMIM:606071
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency OMIM:310200
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Ataxia-Telangiectasia
T lymphocytopenia, Female hypogonadism, Leukemia, Decreased proportion of CD4-positive helper T c... OMIM:208900
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Rectal abscess, Hashimoto thyroiditis, Autoimmune hemolytic anem... ORPHA:436252
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hypoxemia, Intrauterine growth retardation, T... ORPHA:555874
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Respiratory failure, Pneumothorax, Respiratory distress, Neonata... OMIM:266910
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Tachypnea, Pleural effusion, Pulmonary edema ORPHA:542323
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Peripartum Cardiomyopathy
Asthma, Crackles, Paroxysmal dyspnea, Respiratory failure, Dyspnea, Pulmonary arterial hypertensi... ORPHA:563
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory tract infect... ORPHA:308552
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Respiratory failure OMIM:617186
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Amyotrophic Lateral Sclerosis
Abnormal respiratory system physiology, Respiratory failure, Dyspnea ORPHA:803
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Alg1-Cdg
Respiratory failure ORPHA:79327
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Respiratory failure, Chronic sinu... ORPHA:420741
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Asthma, Respiratory failure, Pulmonary arterial hypertension, Recurrent resp... ORPHA:209905
Triosephosphate Isomerase Deficiency
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness, Resp... OMIM:615512
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia OMIM:604250
Sandestig-Stefanova Syndrome
Respiratory failure, Intrauterine growth retardation OMIM:618804
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:613845
Snakebite Envenomation
Respiratory paralysis, Respiratory failure, Epistaxis ORPHA:449285
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Syndromic Diarrhea
Hypothyroidism, Intrauterine growth retardation, Thrombocytosis, Splenomegaly, Inguinal hernia, H... ORPHA:84064
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion, Dyspnea, Respiratory distress ORPHA:3015
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, Death in childhood OMIM:610505
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Death in childhood, Atelectasis, Recurrent respiratory infections... OMIM:618278
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory failure, Respiratory insufficiency, Neonatal respiratory distress, Apnea, Death in in... OMIM:608836
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Respiratory failure, Respiratory insufficiency, Atelectasis, Pulmonary arterial hyper... ORPHA:258
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Respiratory failure, Cardiorespiratory arrest, Restrictive ventilatory defect ORPHA:26791
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Boutonneuse Fever
Respiratory failure ORPHA:83313
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory failure, Central hypoventilation, Respiratory distress ORPHA:70474
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Nocardiosis
Emphysema, Nonproductive cough, Pneumonia, Respiratory failure, Pleural effusion, Dyspnea, Produc... ORPHA:31204
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia OMIM:605309
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypothyroidism, Intrauterine growth retardation, Cryptorchidism, Hyperthyroidism,... ORPHA:567
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory failure, Respiratory tract infection, Atelectasis, Exertional dyspnea, R... ORPHA:365
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:496641
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory failure, ... ORPHA:79138
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure ORPHA:746
Bloom Syndrome
Pneumonia, Intrauterine growth retardation, Respiratory failure, Respiratory tract infection, Rhi... ORPHA:125
Eec Syndrome
Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Anterior hypopit... ORPHA:1896
Treacher-Collins Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Abnormality of the adrenal glands, Thyroid hyp... ORPHA:861
Proteus-Like Syndrome
Subcutaneous lipoma, Shagreen patch, Polycystic ovaries, Splenomegaly, Abnormality of the parathy... ORPHA:2969
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Respiratory failure OMIM:607625
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Infantile Krabbe Disease
Respiratory failure, Respiratory distress ORPHA:206436
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absen... OMIM:600802
Arterial Tortuosity Syndrome
Respiratory failure, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Pulmonary artery st... ORPHA:3342
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure OMIM:617301
Digeorge Syndrome
Cholelithiasis, Hypothyroidism, Parathyroid agenesis, Abnormality of the thymus, Splenomegaly, Ov... OMIM:188400
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Recurrent respiratory infections, Respiratory insuff... ORPHA:2020
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Cutane... ORPHA:443811
Lethal Acantholytic Erosive Disorder
Respiratory failure, Intrauterine growth retardation ORPHA:158687
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Leigh Syndrome
Abnormal pattern of respiration, Respiratory failure, Intrauterine growth retardation ORPHA:506
Thymic Aplasia
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naiv... ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
Poliomyelitis
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Intrauterine growth retardation ORPHA:254528
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Intrauterine growth retardation, Tachypnea, Respiratory failure, Cough, Respiratory in... OMIM:613658
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Death in infancy, Congenital contracture OMIM:619036
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Splenomegaly, Abscess, Granuloma, Hemolytic anemia, Perianal abscess, Impaire... OMIM:618935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Respiratory failure, Pleural effusion, Cough, Dyspnea, Respiratory distress, Epistaxis... ORPHA:340
Sneddon Syndrome
Lymphopenia OMIM:182410
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:252010
Schimke Immunoosseous Dysplasia
Thrombocytopenia, Neutropenia, Anemia, Lymphopenia, Abnormal T cell morphology OMIM:242900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Impaired lymphocyte transform... ORPHA:35078
Short Rib-Polydactyly Syndrome
Respiratory failure, Intrauterine growth retardation ORPHA:1505
Listeriosis
Respiratory failure, Pneumonia, Respiratory distress, Miscarriage ORPHA:533
Nijmegen Breakage Syndrome
Recurrent respiratory infections, Recurrent pneumonia, Respiratory failure, Recurrent sinopulmona... ORPHA:647
Ear-Patella-Short Stature Syndrome
Respiratory failure, Intrauterine growth retardation, Respiratory distress, Dyspnea ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Respiratory failure, Dyspnea, Stridor, Pneumothorax, Respiratory distress ORPHA:79404
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutro... OMIM:250250
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia, Reticulocytopenia, Lymphopenia ORPHA:508542
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Contractures of the large joints, Aplasia of t... ORPHA:96123
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Restrictive ventilatory defect, Intrauterine growth retardation, Respiratory failure, Miscarriage... ORPHA:96334
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Hypoventilation, Respiratory failure, Spontaneous pneumothorax, Pulmonary hy... ORPHA:731
Myhre Syndrome
Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation OMIM:139210
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Abnormal lung morphology, Respiratory failure ORPHA:646
Tuberous Sclerosis Complex
Respiratory failure, Respiratory tract infection, Respiratory distress, Pulmonary lymphangiomyoma... ORPHA:805
Truncus Arteriosus
Hypoplasia of the thymus, Adrenocortical abnormality, Intrauterine growth retardation ORPHA:3384
Abetalipoproteinemia
Respiratory failure ORPHA:14
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... ORPHA:3261
Costello Syndrome
Tracheomalacia, Respiratory failure, Obstructive sleep apnea, Pneumothorax, Respiratory insuffici... OMIM:218040
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased proportion of CD3-positive ... ORPHA:90362
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... ORPHA:273
Ulbright-Hodes Syndrome
Respiratory failure, Severe intrauterine growth retardation, Pneumothorax, Respiratory distress, ... ORPHA:3404
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Lymphopenia, Thrombocytopenia, Aplastic anemia OMIM:127550
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2556
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Thrombocytopenia, Splenomegaly OMIM:617591
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure, Intrauterine growth retardation, Dyspnea ORPHA:2636
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Respiratory failure, Intrauterine growth retardation, Unilateral lung agenesis ORPHA:500150
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Iron deficien... OMIM:600903
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia,... OMIM:615688
Fusariosis
Lung abscess, Neutropenia, Granuloma, Abnormality of the spleen, Lymphopenia, Brain abscess ORPHA:228119
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Splenomegaly ORPHA:1572
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Proteus Syndrome
Diabetes insipidus, Lymphangioma, Testicular neoplasm, Splenomegaly, Ovarian neoplasm, Thymus hyp... ORPHA:744
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in pres... ORPHA:391487
Whim Syndrome
Neutropenia, Abnormality of neutrophil morphology, Lymphopenia ORPHA:51636

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 Carm1

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 Carm1.

No publications found that use IMPC mice or data for Carm1.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Carm1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Carm1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Carm1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter