Gene Summary

S100 calcium binding protein A1
S100a,  S100

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by S100a1 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 S100a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Pulmonary Hypertension, Primary, 1
Dyspnea, Right ventricular failure, Pulmonary arterial medial hypertrophy, Pulmonary aterial inti... OMIM:178600
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Mitochondrial Complex Ii Deficiency, Nuclear Type 2
Irritability OMIM:619166
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Semantic Dementia
Abulia, Dementia ORPHA:100069
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Abnormally loud pulmonic component of the second heart sound, Pul... OMIM:265450
Persistent Idiopathic Facial Pain
Anxiety, Depression ORPHA:398147
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome
Aggressive behavior ORPHA:85294
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Microcephaly 9, Primary, Autosomal Recessive
Impulsivity, Aggressive behavior OMIM:614852
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Atrial Septal Defect, Coronary Sinus Type
Exertional dyspnea, Pneumonia, Unroofed coronary sinus, Right atrial enlargement, Presyncope, Pul... ORPHA:99104
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Geniospasm 1
Anxiety OMIM:190100
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pul... OMIM:268500
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ... ORPHA:422
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... ORPHA:2414
Mental Retardation, Autosomal Dominant 39
Aggressive behavior OMIM:616521
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Exertional dyspnea, Angina pectoris, Right ventricular hypertrophy, Pu... OMIM:265400
Epilepsy, Nocturnal Frontal Lobe, 5
Cognitive impairment, Personality disorder, Aggressive behavior, Depression OMIM:615005
Chronic Thromboembolic Pulmonary Hypertension
Hypocapnia, Palpitations, Central sleep apnea, Right ventricular failure, Right bundle branch blo... ORPHA:70591
Brunner Syndrome
Self-injurious behavior, Impulsivity, Aggressive behavior, Low frustration tolerance OMIM:300615
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Epilepsy, Nocturnal Frontal Lobe, 2
Aggressive behavior, Depression OMIM:603204
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Chorea, Benign Hereditary
Anxiety OMIM:118700
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Myocardial infarction, Cerebral ischemia ORPHA:3325
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Depression OMIM:614296
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontotemporal dementia, In... OMIM:600274
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Meconium Aspiration Syndrome
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pulmonary insufficie... ORPHA:70588
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Apathy, Diminished motivation, Frontot... OMIM:172700
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Decreased pulmonary function, Atrial flutter, Tricuspid regurgitation, Right ... ORPHA:99106
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... ORPHA:563
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Patent ductus arteriosus, Tricuspid regurgi... ORPHA:97214
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Palpitations, Dyspnea, Ischemic stroke, Bacterial endocarditis, Cough, Hemo... ORPHA:2038
Creutzfeldt-Jakob Disease
Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Mucosal telangiectasiae, Pulmonary fibrosis, Telangiectasia of t... ORPHA:220402
Polymyoclonus, Infantile
Irritability OMIM:263550
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i... OMIM:106700
Childhood-Onset Benign Chorea With Striatal Involvement
Anxiety ORPHA:494541
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Edema, Familial Idiopathic, Prepubertal
Irritability OMIM:129840
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Dyspnea, Right ventricular failure, Elevated pulmonary artery pressur... ORPHA:199241
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... OMIM:613355
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... ORPHA:1329
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a... ORPHA:3287
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Short nose, Pulmonary arterial hypertension, Tetra... OMIM:300887
Myoclonus-Dystonia Syndrome
Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation OMIM:614651
Dystonia 11, Myoclonic
Agoraphobia, Anxiety, Depression OMIM:159900
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Patent ductus arterio... OMIM:608406
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Atrial Septal Defect 9
Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Keutel Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Pulm... ORPHA:85202
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impairment ORPHA:401901
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Huntington Disease-Like 2
Dementia, Depression, Apathy, Irritability, Anxiety OMIM:606438
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Tracheal stenosis, Splenomegaly, Pulmonary arterial hypertens... OMIM:607015
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Patent ductus arteriosus, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hyperte... OMIM:613623
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Hughes-Stovin Syndrome
Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary embolism, Pulmonary artery aneurysm, Hemoptys... ORPHA:228116
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
Huntington Disease-Like 1
Anxiety, Aggressive behavior, Dementia, Depression OMIM:603218
Antisynthetase Syndrome
Aortic regurgitation, Pulmonary fibrosis, Cough, Respiratory insufficiency, Telangiectasia of the... ORPHA:81
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Exertional... ORPHA:99050
Yellow Nail Syndrome
Dyspnea, Pleuritis, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Gaucher Disease, Type I
Dyspnea, Epistaxis, Hypertension, Hepatomegaly, Abnormal pulmonary interstitial morphology, Aorti... OMIM:230800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Hypertension, Cardiomegaly, Pulmonary arterial hypertension, Tachypnea, Anteverted na... OMIM:613320
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Anxiety, Depression OMIM:619191
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Parkinson Disease 6, Autosomal Recessive Early-Onset
Anxiety, Dementia, Depression OMIM:605909
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Scimitar Syndrome
Single ventricle, Cough, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Double outlet... ORPHA:185
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Laryngeal web, Pulmonary fibrosis ORPHA:52047
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Orthopnea, Atrial fibrillation, Abnormal left ventricular f... ORPHA:75249
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety OMIM:602066
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary fibrosis, Hypertensive crisis, Telangiectasia of the skin, Congestive heart fa... ORPHA:220393
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Left ve... OMIM:615474
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Epistaxis, Abn... ORPHA:774
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short nose, Recurrent upper respiratory tract infections, Abnormal heart morphology, Broad nasal ... ORPHA:391372
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngomalacia, Hepato... OMIM:608149
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Central apnea, Congestive heart failure, Pulmonary arterial hypertension, Depressed ... OMIM:616482
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, A... ORPHA:210122
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Sinus tachycardia, Right bundle branch block, Hypertension OMIM:614008
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Atrial septal defect, Patent ductus arteriosus, Respiratory insufficiency, Cor triatriatum, Hepat... OMIM:612541
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Atrial septal defect OMIM:614857
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy,... OMIM:616028
Tetrasomy 5P
Respiratory distress, Short nose, Wide nasal bridge, Heart murmur, Congestive heart failure, Pulm... ORPHA:3309
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Melena, Cerebral hemorrhage,... OMIM:187300
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Abnormal heart valve morphology, Pulmonary embo... ORPHA:464343
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Pulmonary arterial ... OMIM:600376
Cardiogenic Shock
Low pulse pressure, Dyspnea, Right ventricular failure, Hypotension, Mitral regurgitation, Abnorm... ORPHA:97292
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, ... ORPHA:2519
Mixed Connective Tissue Disease
Dyspnea, Pericarditis, Gastrointestinal hemorrhage, Pleuritis, Pulmonary fibrosis, Hepatomegaly, ... ORPHA:809
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Geleophysic Dysplasia 2
Short nose, Respiratory insufficiency, Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, M... OMIM:614185
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Familial Thrombocytosis
Cerebral ischemia, Splenomegaly, Pulmonary arterial hypertension, Transient ischemic attack, Syncope ORPHA:71493
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Pulmonary ... OMIM:614017
Klippel-Trénaunay Syndrome
Atrial septal defect, Gastrointestinal hemorrhage, Internal hemorrhage, Abnormal tricuspid valve ... ORPHA:90308
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Dyspnea, Bulbous nose, Patent ductus arteriosus, Bifid nose, Pulmonary arte... ORPHA:261279
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Respiratory distress OMIM:619272
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Prominent nose, Underdeveloped nasal alae, Ventricular septal de... ORPHA:447980
Dyspnea, Pericarditis, Intestinal bleeding, Right ventricular failure, Interstitial cardiac fibro... ORPHA:801
Paroxysmal Nocturnal Hemoglobinuria
Angina pectoris, Pulmonary embolism, Myocardial infarction, Pulmonary arterial hypertension, Tran... ORPHA:447
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Acrocyanosis, Arrhythmia, Pericarditis, Pulmonary fibrosis, Sinus tachycardia, Diffuse reticular ... ORPHA:221
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Respiratory distress, Patent foramen ovale, Ventricular septal defect, Pulm... ORPHA:209905
Systemic Sclerosis
Dyspnea, Pericarditis, Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, I... ORPHA:90291
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Respiratory distress, Patent foramen ovale, Enlarged kidney, Abnormal heart... ORPHA:505248
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Pericardial effusion, Visceromega... ORPHA:2905
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Pulmonary artery atresia, Abnormal pulmonary valve morphology, Pulmo... ORPHA:974
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Hypertension, Congestive heart failure, Cerebral ischemia, Broad nasal tip, Pulm... ORPHA:1830
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Hypoventilation, Arrhythmia, Respiratory insufficiency, Atelectasis, I... ORPHA:258
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:181000
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Pulmonic... OMIM:602782
Marshall-Smith Syndrome
Apnea, Atrial septal defect, Short nose, Anteverted nares, Patent ductus arteriosus, Choanal atre... OMIM:602535
Gaucher Disease Type 1
Pericardial effusion, Hepatomegaly, Abnormal pulmonary interstitial morphology, Splenomegaly, Pul... ORPHA:77259
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Splenomegaly, Pulmonary arterial hypertension, Portal hypertension, Hepatosplenomegaly OMIM:278000
Spastic Paraplegia Type 2
Pulmonary embolism, Recurrent respiratory infections ORPHA:99015
Gaucher Disease Type 3
Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Hepatomegaly, ... ORPHA:77261
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Hallermann-Streiff Syndrome
Underdeveloped nasal alae, Recurrent respiratory infections, Tracheomalacia, Hypertension, Recurr... OMIM:234100
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
3Q29 Microdeletion Syndrome
Short nose, Patent ductus arteriosus, Pulmonary arterial hypertension, Prominent nasal bridge, Su... ORPHA:65286
Multisystemic Smooth Muscle Dysfunction Syndrome
Hyperperistalsis, Patent ductus arteriosus, Hypertension, Pulmonary arterial hypertension, Tachypnea OMIM:613834
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Short nose, Patent ductus arteriosus, Wide nasal bridge, Pulmonary arterial hypertension, Hypoxem... ORPHA:2282
Stuve-Wiedemann Syndrome
Apnea, Short nose, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmonary hy... OMIM:601559
Beta-Thalassemia Intermedia
Hepatomegaly, High-output congestive heart failure, Splenomegaly, Pulmonary arterial hypertension... ORPHA:231222
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
X-Linked Intellectual Disability, Nascimento Type
Patent foramen ovale, Underdeveloped nasal alae, Ventricular septal defect, Patent ductus arterio... ORPHA:163956
Fg Syndrome Type 1
Atrial septal defect, Choanal atresia, Pulmonary arterial hypertension, Mitral valve prolapse, Pr... ORPHA:93932
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Pulmonary insufficiency, Patent ductus arteriosus, Alveolar ... OMIM:265380
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Hypertension, Pulmonic stenosis, Aortic valve st... OMIM:100300
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Spider hemangioma, Hypertension, Hepatomegaly OMIM:232240
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Opitz Gbbb Syndrome, Type Ii
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Laryngeal cleft, Wide ... OMIM:145410
Dilated cardiomyopathy, Cardiac conduction abnormality, Wolff-Parkinson-White syndrome, Concentri... ORPHA:550
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Patent du... OMIM:619351
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Recurrent pneumonia, Pulmonary arterial hyperten... ORPHA:464738
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Abnormal fear/anxiety-related behavior, Anxiety, Inappropriate behavior ORPHA:309246
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Respiratory distress, Abnormal heart morphology, Subdural hemorrhage, Pul... ORPHA:79282
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Patent foramen ovale, Short nose, Abnormal heart morphology, Ventricular septal defe... ORPHA:444077
15Q Overgrowth Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Tricuspid regurgitation, Wide nasal bridge ORPHA:314585
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hyper... ORPHA:464
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Patent foramen ovale, Bronchiectasis, Recurrent upper respiratory tract infections, Renovascular ... ORPHA:391487
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Exertional dyspnea, Intracranial hemorrhage, Pulmonary arterial hyperten... ORPHA:740
Gaucher Disease
Pulmonary fibrosis, Abnormal heart valve morphology, Mitral valve calcification, Abnormal pericar... ORPHA:355
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Atrial septal defect, Patent foramen ovale, Short nose, Patent ductus arteriosus, Peripheral pulm... ORPHA:280633
Autosomal Recessive Malignant Osteopetrosis
Apnea, Abnormal pulmonary valve morphology, Hepatomegaly, Chronic rhinitis, Splenomegaly, Pulmona... ORPHA:667
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Budd-Chiari syndrome, Pneumonia OMIM:226300
Schwartz-Jampel Syndrome
Apnea, Arrhythmia, Respiratory insufficiency, Laryngomalacia, Pulmonary arterial hypertension, Pr... ORPHA:800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary fibrosis, Spontaneous, recurrent epistaxis, Mitral valve calcification, Abnormal pulmon... ORPHA:2072
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Atrial septal defect, Short nose, Patent ductus arteriosus, Chronic lung di... ORPHA:363611
Fontaine Progeroid Syndrome
Atrial septal defect, Short nose, Abnormal heart morphology, Patent ductus arteriosus, Tricuspid ... OMIM:612289
Melnick-Needles Syndrome
Pulmonary arterial hypertension, Mitral valve prolapse, Recurrent respiratory infections, Tricusp... OMIM:309350
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse ORPHA:2396
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Ventricular septal defect, Tricuspid regurgitation... OMIM:143095
Yunis-Varon Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Tetralogy of Fallot, Anteverted nares... OMIM:216340
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Hypotension, Hepatosplenomegaly, Hypovolemia ORPHA:275761
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Respiratory tract infection ORPHA:567548
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Restrictive ventilatory defect, Atrial septal defect, Ventricular septal defect, Wide nasal bridg... ORPHA:96334
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Hematochezia, Spontaneous, recurrent epistaxis, Pulmonary arterioven... ORPHA:2929
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Left ventricular systolic dysfunction, Pericardial... ORPHA:51608
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Hypertension, Cardiom... ORPHA:3472
Pulmonary arterial hypertension, Hepatosplenomegaly, Atrial septal dilatation, Wide nasal bridge ORPHA:263508
17Q11 Microdeletion Syndrome
Abnormality of the sphenoid sinus, Abnormal lung morphology, Abnormal heart morphology, Renovascu... ORPHA:97685
Tetrasomy 9P
Patent foramen ovale, Pericarditis, Abnormal mitral valve morphology, Bulbous nose, Dextrocardia,... ORPHA:3310
Blau Syndrome
Dyspnea, Pericarditis, Large vessel vasculitis, Hypertension, Splenomegaly, Pulmonary arterial hy... ORPHA:90340
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Supraventricular arrhythmia, Pulmonary fibrosis, Intracranial hemo... ORPHA:3260
49,Xxxxy Syndrome
Pulmonary embolism, Asthma, Recurrent respiratory infections, Wide nose, Depressed nasal bridge ORPHA:96264
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Respiratory tract infection, Dyspnea, Pleural effusion, Hypertension, Pulmonary embolism ORPHA:567546
48,Xxxy Syndrome
Pulmonary embolism, Recurrent respiratory infections, Asthma ORPHA:96263
Behçet Disease
Abnormal myocardium morphology, Endocarditis, Pericarditis, Aortic regurgitation, Gastrointestina... ORPHA:117
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Hepatomegaly, Pulmonary embol... ORPHA:394
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Telangiectasia of the skin, Pulmonary embolism, Congestive heart fai... ORPHA:2346
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension, Splenomegaly ORPHA:3202
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Aspi... ORPHA:94093
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Familial Chylomicronemia Syndrome
Pulmonary embolism, Hepatosplenomegaly ORPHA:444490
Alström Syndrome
Restrictive ventilatory defect, Myocardial fibrosis, Chronic pulmonary obstruction, Respiratory d... ORPHA:64
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Epistaxis, Hypertension, Hepatomegaly, Pulmonary venous hypertension ORPHA:79259
Proteus Syndrome
Sudden cardiac death, Pulmonary embolism, Bronchogenic cyst, Depressed nasal bridge, Neoplasm of ... ORPHA:744


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 S100a1

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 S100a1.

No publications found that use IMPC mice or data for S100a1.

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MGI Allele Allele Type Produced
S100a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
S100a1em1(IMPC)Mbp Inter-exon deletion Mice
S100a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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