Gene Summary

WASP family, member 2
WAVE2,  D4Ertd13e

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal stomach morphology Wasf2em1(IMPC)Rbrc HET Early adult 0.00
abnormal behavior Wasf2em1(IMPC)Rbrc HET   Late adult 4.32×10-05
preweaning lethality, complete penetrance Wasf2em1(IMPC)Rbrc HOM   Early adult 0.00

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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.

Eye Morphology

Images Slit Lamp

1 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Gross Pathology and Tissue Collection


4 Images

Human diseases caused by Wasf2 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 Wasf2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Gastric Cancer
Stomach cancer OMIM:613659
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology ORPHA:2978
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Fundic gland polyposis, Melena OMIM:619182
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... OMIM:618734
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Anus, Imperforate
Anal atresia OMIM:207500
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Facial palsy, Arterial fibromuscular dysplasia, Hyp... ORPHA:36382
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage OMIM:300049
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Hernia, Hiatus
Hiatus hernia OMIM:142400
Snakebite Envenomation
Hypotension, Rhabdomyolysis, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracrania... ORPHA:449285
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Short stature, Dilated cardiomyopathy,... ORPHA:280679
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Short stature, D... OMIM:300845
Moderate Hemophilia A
Hip contracture, Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial he... ORPHA:169805
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Carotid a... ORPHA:91387
Severe Hemophilia A
Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising suscepti... ORPHA:169802
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transi... ORPHA:284388
Dural Sinus Malformation
Cerebellar hemorrhage, Cerebral edema, Vascular dilatation, Cerebral hemorrhage, Carotid cavernou... ORPHA:97339
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neopla... ORPHA:157798
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... ORPHA:231160
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Hemoperitoneum, Subcutaneous hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Persistent ... ORPHA:465
Sneddon Syndrome
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Stroke, Facial palsy OMIM:182410
Glanzmann Thrombasthenia 1
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... OMIM:273800
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... ORPHA:136
Brain Small Vessel Disease 2
Growth delay, Intracranial hemorrhage OMIM:614483
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Congenital Factor Ii Deficiency
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... ORPHA:325
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Hemophilia A
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Joint swelling, ... ORPHA:98878
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Cerebral hemorrhage, Petechiae, Secundum atrial septal defect, Pleural ... OMIM:617397
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mi... OMIM:177850
Familial Multiple Nevi Flammei
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed... ORPHA:624
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage OMIM:603284
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persistent bleeding after t... ORPHA:331
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Abnormality of the pulmonary arter... ORPHA:90308
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Cerebral hemorrhage, Intracranial hemor... ORPHA:464321
Extracranial Carotid Artery Aneurysm
Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hypertension, Up... ORPHA:494424
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... ORPHA:99147
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syn... ORPHA:90065
Factor Vii Deficiency
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Intr... OMIM:227500
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... ORPHA:31825
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
Familial Afibrinogenemia
Cerebral hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding, Joint swelling ORPHA:98880
Fetal Gaucher Disease
Hydrops fetalis, Flexion contracture, Intracranial hemorrhage, Stillbirth, Neonatal death, Arthro... ORPHA:85212
Primary Angiitis Of The Central Nervous System
Transient ischemic attack, Stroke, Cerebral vasculitis, Intracranial hemorrhage ORPHA:140989
Afibrinogenemia, Congenital
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... OMIM:202400
Fibronectin Glomerulopathy
Pedal edema, Hypertension, Cerebral hemorrhage ORPHA:84090
Joubert Syndrome 14
Meningocele, Encephalocele, Ventricular septal defect, Hypertension, Intracranial hemorrhage, Gro... OMIM:614424
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Craniofaciofrontodigital Syndrome
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... ORPHA:363705
Propionic Acidemia
Cerebellar hemorrhage, Short stature, Limb hypertonia, Dehydration, Cardiomyopathy OMIM:606054
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Hemophilia B
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... ORPHA:98879
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, I... OMIM:227600
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Flexion contracture, Multiple joint contractures, Spina bifida occulta, Subdural ... OMIM:618291
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... ORPHA:1876
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Intracranial... ORPHA:369929
Wyburn-Mason Syndrome
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... ORPHA:53719
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Cerebral edema, Dilated cardiomyopathy, Congestive h... ORPHA:99901
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Gast... ORPHA:853
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Gastric varix OMIM:613490
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT inte... ORPHA:251274
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ... ORPHA:328
Congenital Alpha2-Antiplasmin Deficiency
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... ORPHA:79
Pericardial effusion, Ascites, Bone-marrow foam cells OMIM:256150
Cantu Syndrome
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... OMIM:239850
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Intussusception OMIM:147710
Menkes Disease
Intracranial hemorrhage, Intrauterine growth retardation, Short stature OMIM:309400
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility, Lymphedema ORPHA:3226
Dengue Fever
Hypotension, Cerebral hemorrhage, Petechiae, Bruising susceptibility, Epistaxis, Gingival bleedin... ORPHA:99828
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time ORPHA:49566
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... ORPHA:1041
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy, Dehydration OMIM:251000
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... ORPHA:2494
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Glycogen Storage Disease Ii
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Firm muscles, Macrogloss... OMIM:232300
Mirage Syndrome
Patent ductus arteriosus, Short stature, Petechiae, Intracranial hemorrhage, Intrauterine growth ... OMIM:617053
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Hypophosphatasia, Infantile
Polyhydramnios, Disproportionate short-limb short stature, Intracranial hemorrhage, Stillbirth OMIM:241500
Parkes Weber Syndrome
Vascular dilatation, Bounding pulse, Lower limb muscle weakness, Arteriovenous malformation, Cere... ORPHA:90307
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Abnormality of the ... ORPHA:363618
Hereditary Hemorrhagic Telangiectasia
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... ORPHA:774
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Kaposiform Lymphangiomatosis
Pericardial effusion, Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis... ORPHA:464329
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Autoerythrocyte Sensitization Syndrome
Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Edema, Oral cavity bleed... ORPHA:324636
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Polyhydramnios, Flexion contracture, Centrally nucleated skeletal muscle fibe... OMIM:615368
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Bannayan-Riley-Ruvalcaba Syndrome
Telangiectasia, Short stature, Subcutaneous hemorrhage, Arteriovenous malformation, Lymphedema, A... ORPHA:109
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Tempi Syndrome
Transudative pleural effusion, Ascites, Telangiectasia, Intracranial hemorrhage ORPHA:284227
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Pleural effusion, Stroke, Intracranial hemorrhage ORPHA:1163
Methylmalonic Acidemia With Homocystinuria Type Cblf
Growth delay, Abnormal heart morphology, Intraventricular hemorrhage, Intrauterine growth retarda... ORPHA:79284
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Stroke, Varicose veins OMIM:263400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Ventricular septal defect, Short stature, Heart murmur, Interrupted aor... ORPHA:163979
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Hydrops fetalis, Dilated cardiomyopathy, Sub... ORPHA:79282
Menkes Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dilatation, Abnormal carotid arter... ORPHA:565
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Familial Hyperaldosteronism Type I
Epistaxis, Hypertension, Intracranial hemorrhage ORPHA:403
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... OMIM:610655
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Juvenile g... ORPHA:480536
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Short stature, Bicuspid aortic valve, Ao... ORPHA:536545
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage, Budd-Chiari syndrome OMIM:263300
Cocaine Intoxication
Hypotension, Ischemic stroke, Cerebral hemorrhage, Pulmonary edema, Hypovolemia, Ventricular arrh... ORPHA:90068
Familial Hyperaldosteronism Type Ii
Epistaxis, Hypertension, Intracranial hemorrhage ORPHA:404
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... OMIM:187300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbow flexion contracture, Dilated ... OMIM:608836
Erythrocytosis, Familial, 1
Myocardial infarction, Hypertension, Cerebral hemorrhage OMIM:133100
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biventricular h... OMIM:261740
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Short stature, Limb hypertonia, Oligohydramnios, Increased nuchal translucency, Fetal intraventri... OMIM:618480
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... ORPHA:99827
Stormorken Syndrome
Short stature, Abnormal bleeding, Bruising susceptibility, Epistaxis, Stroke-like episode, Myopat... OMIM:185070
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Esophageal neoplasm, Neoplasm of... ORPHA:44890
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... ORPHA:555874
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, I... ORPHA:3260
Loeys-Dietz Syndrome 3
Aortic tortuosity, Ventricular hypertrophy, Camptodactyly, Ascending aortic dissection, Thoracic ... OMIM:613795
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr... OMIM:605714
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Colon... OMIM:174900
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Hemorrhagic Fever-Renal Syndrome
Hypotension, Pulmonary edema, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis... ORPHA:340
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis, Growth delay OMIM:243700
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... OMIM:600376
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Intracranial hemorrhage, Epistaxis, Palpitations ORPHA:231625
Wiskott-Aldrich Syndrome
Sudden cardiac death, Petechiae, Purpura, Intracranial hemorrhage, Bruising susceptibility, Inter... ORPHA:906
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... ORPHA:220460
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris... ORPHA:740
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... ORPHA:2177
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhage, Pleural effusion, Prolong... ORPHA:244242
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... OMIM:618775
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Decreased muscle mass, Short stature OMIM:616507
Viss Syndrome
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Carotid artery dilatation, C... OMIM:619472
Cockayne Syndrome Type 3
Aortic root aneurysm, Retinal hemorrhage, Flexion contracture, Mild postnatal growth retardation,... ORPHA:90324
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... OMIM:171300
Classic Homocystinuria
Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Arteriovenous malformation, Intra... ORPHA:394
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Neonatal death, Intrauterine growth retardation, Prolonged prothromb... OMIM:619055
Osteogenesis Imperfecta
Aortic root aneurysm, Flexion contracture, Rhizomelia, Cerebral hemorrhage, Short stature, Mitral... ORPHA:666
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:801
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... ORPHA:199241
Systemic Sclerosis
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:90291
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Hepatoportal Sclerosis
Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Gastric varix ORPHA:64743
Arachnoid Cyst
Subarachnoid hemorrhage, Encephalocele, Lower limb muscle weakness, Facial palsy ORPHA:2356
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Intracranial hemorrhage, Short stature ORPHA:90795
Koolen-De Vries Syndrome Due To A Point Mutation
Ventricular septal defect, Hand muscle atrophy, Spina bifida, Bicuspid aortic valve, Aortic aneur... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventricular septal defect, Hand muscle atrophy, Spina bifida, Bicuspid aortic valve, Aortic aneur... ORPHA:363958
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy, Subdural hemorrhage, Intrauterine growth retardation, Short stature OMIM:619714
Cardiac Valvular Dysplasia 1
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... OMIM:212093
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Microgastria-Limb Reduction Defect Syndrome
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... ORPHA:2538
Superficial Siderosis
Abnormal vertebral artery morphology, Lower limb muscle weakness, Arteriovenous malformation, Abn... ORPHA:247245
Flexion contracture, Camptodactyly, Intracranial hemorrhage, Stroke-like episode, Prolonged QT in... ORPHA:86309
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... ORPHA:141127
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Polyhydramnios, Intraventricular hemorrhage OMIM:613603
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Acute Liver Failure
Hypotension, Cerebral edema, Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility,... ORPHA:90062
Nelson Syndrome
Hypertension, Quadriceps muscle atrophy, Intracranial hemorrhage, Lower limb muscle weakness ORPHA:199244
Cerebellar hemorrhage ORPHA:616
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... ORPHA:512
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Pericardial effusion, Medial calcification of large arte... ORPHA:51608
Witteveen-Kolk Syndrome
Polyhydramnios, Short stature, Intracranial hemorrhage, Congenital diaphragmatic hernia, Growth d... OMIM:613406
Riddle Syndrome
Intraventricular hemorrhage, Conjunctival telangiectasia, Short stature, Telangiectasia ORPHA:420741
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Lower limb muscle weakness, Cerebral hemorrhage, Syncope, Upper limb muscle weakness, Facial palsy ORPHA:2495
Acute Transverse Myelitis
Hypertension, Upper limb muscle weakness, Distal lower limb muscle weakness, Orthostatic hypotens... ORPHA:139417
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Dilation of Virchow-Robin spaces, Retin... OMIM:175780
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Multiple joint contractures, Lymphedema, Pericardial effusion, Intracranial hemorrhage, Angina pe... ORPHA:79318
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Hardikar Syndrome
Cleft soft palate, Esophageal varix, Intestinal malrotation, Celiac disease, Gastric varix, Hemat... OMIM:301068
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Williams Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Peptic ulcer, Colonic diverticula, M... ORPHA:904


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 Wasf2

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 Wasf2.

No publications found that use IMPC mice or data for Wasf2.

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MGI Allele Allele Type Produced
Wasf2em1(IMPC)Rbrc Indel Mice
Wasf2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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