Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cerebral cavernous malformation 2
Synonyms:
N/A

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.

Phenotype associated images not available

Human diseases caused by Ccm2 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.

The table below shows human diseases associated to Ccm2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061

The table below shows human diseases predicted to be associated to Ccm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Moyamoya Disease 2
Moyamoya phenomenon, Transient ischemic attack OMIM:607151
Stroke, Ischemic
Stroke OMIM:601367
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Lambert Syndrome
Branchial anomaly ORPHA:1296
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage ORPHA:98880
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Abnormal cerebral vascular morphology, Peripheral arteriovenous fistula ORPHA:1053
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Hypertension, Patent ductus arteriosus ORPHA:79094
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
X-Linked Mandibulofacial Dysostosis
Webbed neck, Abnormality of the pulmonary artery, Branchial anomaly, Pulmonic stenosis ORPHA:1131
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Pulmonary artery stenosis, Branchial cyst ORPHA:435938
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Verheij Syndrome
Short neck, Branchial cyst, Truncus arteriosus OMIM:615583
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi... ORPHA:449285
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Dural Sinus Malformation
Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage, Cerebellar... ORPHA:97339
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal coronary artery morphology, Congestive heart failure, Abnormal aor... ORPHA:3400
Fibromuscular Dysplasia, Arterial
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... OMIM:135580
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... ORPHA:280679
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Hypertension, Cerebral artery atherosclerosis, Coronary artery atherosclerosis ORPHA:1192
Nephrosialidosis
Ascites, Bone-marrow foam cells, Pericardial effusion OMIM:256150
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Sinus bradycardia OMIM:126320
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Arterial stenosis, Cerebral ischemi... ORPHA:3287
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Pulmonary arteriovenous malform... OMIM:175050
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellu... ORPHA:91387
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Abnormal bleeding, Congestive heart failure, Cerebral isch... ORPHA:137667
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... OMIM:177850
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:251274
Parkes Weber Syndrome
Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Venous malformation, Spinal a... ORPHA:90307
Bor Syndrome
Branchial cyst ORPHA:107
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Increased nuchal translucency, Branchial anomaly, Ascending tubular aorta aneurysm ORPHA:453499
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Ventricula... OMIM:115197
Oligomeganephronia
Hypertension, Branchial cyst, Pulmonary venous occlusion ORPHA:2260
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage ORPHA:284227
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Aortic aneurysm, Branchial fistula, Truncus arteriosus ORPHA:261330
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo... ORPHA:324636
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Aorta Coarctation
Congestive heart failure, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persisten... ORPHA:1457
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal aortic morphol... ORPHA:2162
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... ORPHA:369929
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresia, Abnormal descending a... ORPHA:99050
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, A... ORPHA:758
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Pulmonary artery atresia, Left axis deviatio... OMIM:620294
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrhage OMIM:185070
Fetal Gaucher Disease
Intracranial hemorrhage ORPHA:85212
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... OMIM:620300
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Tricuspid regurgitation, Low posterior hairline, Patent ductus ar... ORPHA:261337
Menkes Disease
Intracranial hemorrhage OMIM:309400
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycardia OMIM:617397
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... OMIM:239850
Aspergillosis
Stroke, Intracranial hemorrhage ORPHA:1163
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Homozygous Familial Hypercholesterolemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Calcification of the ao... ORPHA:391665
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Aortic aneurysm, Increased nuchal translucency, Branchial anomaly ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Aortic aneurysm, Increased nuchal translucency, Branchial anomaly ORPHA:352665
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Propionic Acidemia
Cerebellar hemorrhage, Cardiomyopathy OMIM:606054
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Neurocutaneous Melanocytosis
Intracranial hemorrhage ORPHA:2481
Dysbetalipoproteinemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Angina pectoris, Type I... ORPHA:412
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Hypophosphatasia, Infantile
Intracranial hemorrhage OMIM:241500
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Co... OMIM:614823
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small cerebral ar... OMIM:600142
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Subdural hemorrhage OMIM:618291
Cardiac Diverticulum
Aortic valve stenosis, Premature ventricular contraction, Arrhythmia, Ventricular fibrillation, P... ORPHA:1686
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... ORPHA:464329
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Hypertension, Myocardial infarction, Coronary artery atherosclerosis OMIM:618620
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... ORPHA:363618
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... ORPHA:394
Ehlers-Danlos Syndrome, Classic-Like, 2
Webbed neck, Aortic root aneurysm, Umbilical hernia, Low posterior hairline, Short neck, Carotid ... OMIM:618000
Mirage Syndrome
Petechiae, Intracranial hemorrhage, Patent ductus arteriosus OMIM:617053
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris, Aortic aneu... ORPHA:109
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Branchial cyst, Truncus arteriosus, Short neck, Coarctation of aorta... ORPHA:508488
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hypertension, Syncope, Periphera... ORPHA:71493
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Patent duc... ORPHA:2637
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Pleural effusion, Hemothorax, Pulmonary e... ORPHA:199241
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Pulmonary edema, Ventricular fibrillation, Increased myocardial glycog... OMIM:261740
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Retinal arterial tortuosity, Vitreous hemorrhage, Cerebral hemorrhage, R... OMIM:620371
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Prolonged bleeding t... OMIM:618280
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao... ORPHA:42775
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Arterial stenosis, Venous insufficiency, Vasc... ORPHA:565
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Grange Syndrome
Renovascular hypertension, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis OMIM:602531
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Pulmonary arterial hypertension, Natal tooth, Branchial cyst OMIM:620186
Glycogen Storage Disease Ii
Sinus tachycardia, Dilatation of the cerebral artery, Shortened PR interval, Subarachnoid hemorrh... OMIM:232300
Hellp Syndrome
Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Gastrointestinal hemorrhage, Hematochezia, Arteriovenous malformation... ORPHA:2929
Primary Intestinal Lymphangiectasia
Generalized edema, Intestinal lymphangiectasia, Ascites, Pleural effusion, Abnormal lymphatic ves... ORPHA:90362
Gaisböck Syndrome
Elevated diastolic blood pressure, Coronary artery atherosclerosis, Stroke, Angina pectoris, Peri... ORPHA:90041
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage OMIM:608836
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension ORPHA:90795
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Cutis Marmorata Telangiectatica Congenita
Arterial stenosis, Telangiectasia of the skin, Arteriovenous malformation, Patent ductus arteriosus ORPHA:1556
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... ORPHA:3260
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Right aortic arch, Coarctation o... OMIM:164210
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage OMIM:616430
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid... ORPHA:247245
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Bruising susceptibility, Arterial rupture, Aortic aneurysm, Cerebral hemorrh... ORPHA:536545
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... ORPHA:90324
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Stroke, Pulmonary arterial hyper... ORPHA:79282
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arteriosus ORPHA:163979
Hydranencephaly
Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage, Abnormal internal carot... ORPHA:2177
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Coronary artery stenosis, Palpitations, Renal artery atherosclerosis, Coronary ar... ORPHA:565612
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Carotid artery occlusion, Aortic regurgitation, Atherosclerosis, Left vent... ORPHA:740
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Hypertension, Myocardial infarction, Coronary artery stenosis OMIM:615812
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Periph... OMIM:259900
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Branchiooculofacial Syndrome
Low posterior hairline, Short neck, Branchial anomaly OMIM:113620
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Dpagt1-Cdg
Prolonged QT interval, Stroke-like episode, Intracranial hemorrhage ORPHA:86309
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage OMIM:613603
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Branchial fistula OMIM:613406
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Aortic root aneurysm, Prominent veins on trunk, Umbilical hernia, Carotid artery ste... ORPHA:536532
Arachnoid Cyst
Subarachnoid hemorrhage ORPHA:2356
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Loeys-Dietz Syndrome 3
Aortic regurgitation, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Tortuous c... OMIM:613795
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia ORPHA:420741
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Umbilical hernia, Abnormal aortic morphology, Arrhythmia, Peripheral arterial ste... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Umbilical hernia, Abnormal aortic morphology, Arrhythmia, Peripheral arterial ste... ORPHA:217093
Sitosterolemia 1
Carotid artery stenosis, Coronary artery atherosclerosis OMIM:210250
Osteogenesis Imperfecta
Arterial dissection, Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Bruising susc... ORPHA:666
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ... OMIM:619472
Williams Syndrome
Mitral regurgitation, Abnormality of the neck, Overriding aorta, Patent ductus arteriosus, Hypert... ORPHA:904
Mucopolysaccharidosis Type 2
Cardiomyopathy, Umbilical hernia, Abnormal aortic morphology, Arrhythmia, Peripheral arterial ste... ORPHA:580
Koolen-De Vries Syndrome Due To A Point Mutation
Pulmonic stenosis, Aortic aneurysm, Intraventricular hemorrhage, Cardiomyopathy ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pulmonic stenosis, Aortic aneurysm, Intraventricular hemorrhage, Cardiomyopathy ORPHA:363958
Meningioma
Syncope, Cerebral hemorrhage ORPHA:2495
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Coronary artery stenosis ORPHA:31150
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension ORPHA:139417
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art... ORPHA:51608
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... OMIM:175780
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Trichorhinophalangeal Syndrome, Type Ii
Partial anomalous pulmonary venous return, Internal carotid artery dissection, Cerebral arteriove... OMIM:150230
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Atypical Werner Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Congestive heart failure, Abnormali... ORPHA:79474
Neurofibromatosis Type 1
Arterial stenosis, Hypertension ORPHA:636
Pmm2-Cdg
Hypertrophic cardiomyopathy, Angina pectoris, Intracranial hemorrhage, Pericarditis ORPHA:79318

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 Ccm2

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 Ccm2.

No publications found that use IMPC mice or data for Ccm2.

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.

MGI Allele Allele Type Produced
Ccm2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ccm2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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