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Gene: Wasf2 MGI:1098641

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Gene Summary

Name:
WASP family, member 2
Synonyms:
WAVE2,  D4Ertd13e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
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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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

4 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Eye Morphology

Images Slit Lamp

1 Images

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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
phenotypes		 Matching phenotypes Source
Polyposis, gastric
Multiple gastric polyps OMIM:175020
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
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Cerebral berry aneurysm, Subarachnoid hemorrhage, Arterial fi... OMIM:618734
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Internal Carotid Absence
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage ORPHA:981
Anus, Imperforate
Anal atresia OMIM:207500
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Familial Cervical Artery Dissection
Stroke, Carotid artery dissection, Transient ischemic attack, Dilatation of the cerebral artery, ... ORPHA:36382
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Hernia, Hiatus
Hiatus hernia OMIM:142400
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Coronary artery atherosclerosis, Short stature, Hype... ORPHA:280679
Snakebite Envenomation
Rhabdomyolysis, Ecchymosis, Angioedema, Stroke, Muscle fiber necrosis, Cardiogenic shock, Gingiva... ORPHA:449285
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Moyamoya phenomenon, Abnormal left ventricle morphology, Short stature, C... OMIM:300845
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Coronary artery atherosclerosis, Hypertension, Cardiomegaly, Bruising susceptibility, Aortic regu... ORPHA:91387
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Vasospasm, Cerebral hemorrhage, Carotid artery dissection, Transient ischemic att... ORPHA:284388
Severe Hemophilia A
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... ORPHA:169802
Dural Sinus Malformation
Cerebral edema, Carotid cavernous fistula, Arteriovenous fistula, Stroke, Abnormal facial vein mo... ORPHA:97339
Moderate Hemophilia A
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding after dental extraction,... ORPHA:169805
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Intracranial hemor... ORPHA:231160
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Adenomatous coloni... ORPHA:157798
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Transient ischemic attack, Cerebral ischemia, Hypertension, Lacunar stroke, Arterial sten... ORPHA:136
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Sneddon Syndrome
Stroke, Hypertension, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Ischemic stroke OMIM:182410
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... OMIM:173470
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Persistent bleeding after trauma, Epistaxis, Myocardial fibrosis, Gastrointestinal hemorrhage, Su... ORPHA:465
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Venous insufficiency, Arteriovenous malformation, Edema, Intracra... ORPHA:624
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Gastrointestinal hemorrhage, Retinal hemorrhage, Medial c... OMIM:177850
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, Congestive heart failure, Atria... ORPHA:90308
Hemophilia A
Gastrointestinal hemorrhage, Oral cavity bleeding, Intramuscular hematoma, Joint hemorrhage, Blee... ORPHA:98878
Congenital Factor Xiii Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... ORPHA:331
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Intracranial hemorrhage, Stroke OMIM:105150
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Stroke, Arteriosclerosis, Arteritis, Upper limb muscle w... ORPHA:494424
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Abnor... ORPHA:464321
Pseudo-Torch Syndrome 2
Petechiae, Patent ductus arteriosus, Bradycardia, Pleural effusion, Secundum atrial septal defect... OMIM:617397
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia, Stroke, Cerebral cavernous malformation OMIM:603284
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Stroke, Ascites, Hypert... OMIM:115197
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Colonic diverticula, Ster... ORPHA:263665
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Myocardial infarction, Hypertension, Ce... ORPHA:31825
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Ecc... OMIM:613225
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Myocardial infarction, Prol... ORPHA:90065
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Bruising susceptibility, Aortic valve stenosis, Gastrointestina... ORPHA:99147
Primary Angiitis Of The Central Nervous System
Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis, Stroke ORPHA:140989
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Wyburn-Mason Syndrome
Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleeding, Arteriovenous malformat... ORPHA:53719
Fetal Gaucher Disease
Flexion contracture, Hydrops fetalis, Arthrogryposis multiplex congenita, Neonatal death, Intracr... ORPHA:85212
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Pulmonary arterial hypertension, Hypertension, Ventricular ... ORPHA:369929
Fibronectin Glomerulopathy
Cerebral hemorrhage, Pedal edema, Hypertension ORPHA:84090
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Macroglossia, Ventricular septal defect, Mitral regurgitation, Cardi... ORPHA:363705
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Abnormal gastric mucosa morphology, Malabsorption, Int... ORPHA:1876
Factor Vii Deficiency
Menorrhagia, Joint hemorrhage, Abnormal bleeding, Intramuscular hematoma, Intracranial hemorrhage... OMIM:227500
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Prolonged bleeding ... ORPHA:35909
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Cerebral cavernous malformation OMIM:603285
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... ORPHA:251274
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... ORPHA:3002
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Dehydration, Cardiomyopathy OMIM:251000
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Purpura, Subarachnoid hemorrhage, Melena, Abn... ORPHA:853
Propionic Acidemia
Cerebellar hemorrhage, Limb hypertonia, Short stature, Cardiomyopathy, Dehydration OMIM:606054
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebral edema, Dilated cardiomyopathy, Congestive heart failure, Cerebellar hemorrhage, Hypertro... ORPHA:99901
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Intramuscular hematoma, Prolonged prothrombin t... OMIM:227600
Intussusception
Intussusception OMIM:147710
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Dengue Fever
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Hypotension, ... ORPHA:99828
Ménétrier Disease
Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroe... ORPHA:2494
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... OMIM:239850
Menkes Disease
Short stature, Intracranial hemorrhage, Intrauterine growth retardation OMIM:309400
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Bruising susceptibility, Intracranial hemorrhage, Prolonged bleeding time ORPHA:3226
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Aortic root aneurysm, Mitral valve calcification... ORPHA:363618
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Polyhydramnios, Intracranial hemorrhage, Stillbirth OMIM:241500
Mirage Syndrome
Petechiae, Intrauterine growth retardation, Patent ductus arteriosus, Short stature, Intracranial... OMIM:617053
Parkes Weber Syndrome
Arteriovenous fistula, High-output congestive heart failure, Vascular tortuosity, Peripheral arte... ORPHA:90307
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Bruising susceptibility, Ecchymosis, Pleural effusion, Abnormal lymph... ORPHA:464329
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Prolonged prothrombin time, Shock, Internal hemorrhage ORPHA:49566
Autoerythrocyte Sensitization Syndrome
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Oral cavity bleeding, Menorrhag... ORPHA:324636
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Mucosal telangiectasiae, Gastrointestinal hemorrhage, Congestive heart failu... ORPHA:774
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:94080
Familial Afibrinogenemia
Gingival bleeding, Cerebral hemorrhage, Joint swelling, Abnormal bleeding, Epistaxis ORPHA:98880
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Atrial septal defect, Short stature, Heart murmur, Ventricular septal d... ORPHA:163979
Erythrocytosis, Familial, 2
Stroke, Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Varicose veins OMIM:263400
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Intracranial hemorrhage, Lymphedema, Aortic aneurysm, Short stature, Art... ORPHA:109
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Menkes Disease
Vascular dilatation, Intrauterine growth retardation, Gastrointestinal hemorrhage, Venous insuffi... ORPHA:565
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Tempi Syndrome
Telangiectasia, Transudative pleural effusion, Intracranial hemorrhage, Ascites ORPHA:284227
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Kyphoscoliotic Ehlers-Danlos Syndrome
Bruising susceptibility, Skeletal muscle atrophy, Dextrocardia, Aortic aneurysm, Short stature, M... ORPHA:536545
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Aspergillosis
Intracranial hemorrhage, Pleural effusion, Stroke ORPHA:1163
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Intrauterine growth retardation, Stroke, Hydrops fetalis, Pulmonary embol... ORPHA:79282
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Abnormal heart morphology, Growth delay, Intrauterine growth retarda... ORPHA:79284
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Colon cancer, Neoplasm of the rectum, Juvenile gastrointestinal polyposis, ... ORPHA:480536
Cocaine Intoxication
Hypovolemia, Rhabdomyolysis, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Aor... ORPHA:90068
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Vascular Hyalinosis
Hematochezia, Subarachnoid hemorrhage, Vascular dilatation OMIM:277175
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdural hemorrhage, ... ORPHA:99827
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Nail bed telangiectasia, Cerebral arteriovenous malformation, Hepati... OMIM:187300
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Varicose veins, Lymphedema, Edema,... OMIM:617300
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Polycythemia Vera
Cerebral ischemia, Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... ORPHA:44890
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Arrhythmia, Increased muscle lipid content, Knee flexion contracture, Ant... OMIM:608836
Loeys-Dietz Syndrome 3
Atrial fibrillation, Ventricular hypertrophy, Mitral regurgitation, Left ventricular hypertrophy,... OMIM:613795
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Dilated cardiomyopathy, Angioedema, Congestive heart failure, Skeletal mu... ORPHA:3260
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Hypertension OMIM:133100
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps,... ORPHA:329971
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Syst... ORPHA:555874
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Growth delay, Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Duodenal adenocarcinoma, Multiple g... OMIM:174900
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Adenomatous colonic polyposis, Duodenal polypo... ORPHA:220460
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Pleural effusion, Capillar... ORPHA:340
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Abnormal mitral valve morphology, Abnormal aortic valve mo... ORPHA:740
Hydranencephaly
Intrauterine growth retardation, Abnormal internal carotid artery morphology, Dilatation of the v... ORPHA:2177
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Wiskott-Aldrich Syndrome
Hematochezia, Bruising susceptibility, Petechiae, Recurrent intrapulmonary hemorrhage, Arrhythmia... ORPHA:906
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nail bed telangiectasia, Cerebral arteriovenous malformation, Hepatic arteriovenous malformation,... OMIM:600376
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Viss Syndrome
Carotid artery tortuosity, Double outlet right ventricle, Macroglossia, Ventricular septal defect... OMIM:619472
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Hellp Syndrome
Hypotension, Pleural effusion, Internal hemorrhage, Cerebral hemorrhage, Prolonged prothrombin ti... ORPHA:244242
Cerebral Amyloid Angiopathy, App-Related
Stroke, Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Cockayne Syndrome Type 3
Flexion contracture, Stroke, Retinal hemorrhage, Aortic root aneurysm, Skeletal muscle atrophy, V... ORPHA:90324
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:276621
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Persiste... OMIM:618775
Classic Homocystinuria
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Pulmonary embolism, Hypertension, Arteriove... ORPHA:394
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Short stature, Decreased muscle mass OMIM:616507
Osteogenesis Imperfecta
Abnormal endocardium morphology, Bruising susceptibility, Flexion contracture, Aortic regurgitati... ORPHA:666
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Constrictive pericarditis, Pericardial effusion OMIM:260900
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphology, Pleural effusion, Elevated pulmo... ORPHA:199241
Scleroderma
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:801
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171300
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis ORPHA:314575
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:90291
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Neonatal death, Prolonged prothrombin time, Intrauterine growth reta... OMIM:619055
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Pyloric stenosis ORPHA:98892
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Hypertension associated with pheochromocytoma, Palpi... ORPHA:29072
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Spina bi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Atrial septal defect, Pulmonic stenosis, Abnormal heart morphology, Spina bi... ORPHA:363958
Arachnoid Cyst
Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage, Encephalocele ORPHA:2356
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Gastrointestinal hemorrhage, Gastric varix ORPHA:64743
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Short stature, Subdural hemorrhage, Intrauterine growth retardation, Skeletal muscle hypertrophy OMIM:619714
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Short stature, Hypertension ORPHA:90795
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Superficial Siderosis
Persistent bleeding after trauma, Abnormal vertebral artery morphology, Lower limb muscle weaknes... ORPHA:247245
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Stroke, Congestive heart failure, Bacterial endocarditis, Heart murmur, Dil... ORPHA:1054
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Harrod Syndrome
High palate, Malrotation of small bowel, Aganglionic megacolon, High, narrow palate, Pyloric sten... OMIM:601095
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Rectovaginal fistula, Microgastria, Intestinal malrotation, Gastroesophageal reflu... ORPHA:2538
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Dpagt1-Cdg
Anasarca, Flexion contracture, Prolonged QT interval, Camptodactyly, Stroke-like episode, Intracr... ORPHA:86309
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Metachromatic Leukodystrophy
Abnormal stomach morphology, Intussusception, Abnormal duodenum morphology, Neoplasm of the gallb... ORPHA:512
Acute Liver Failure
Cerebral edema, Bruising susceptibility, Gastrointestinal hemorrhage, Shock, Hypotension, Abnorma... ORPHA:90062
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Nelson Syndrome
Lower limb muscle weakness, Intracranial hemorrhage, Hypertension, Quadriceps muscle atrophy ORPHA:199244
Medulloblastoma
Cerebellar hemorrhage ORPHA:616
Acys Amyloidosis
Cerebral hemorrhage, Stroke ORPHA:100008
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Ascites, Ventricular hypertrophy... ORPHA:51608
Microgastria-Limb Reduction Defects Association
Intestinal malrotation, Gastroesophageal reflux, Aganglionic megacolon, Microgastria OMIM:156810
Meningioma
Cerebral hemorrhage, Lower limb muscle weakness, Upper limb muscle weakness, Syncope, Facial palsy ORPHA:2495
Riddle Syndrome
Intraventricular hemorrhage, Telangiectasia, Short stature, Conjunctival telangiectasia ORPHA:420741
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastrointest... ORPHA:1199
Chronic Granulomatous Disease
Malabsorption, Tracheoesophageal fistula, Pyloric stenosis ORPHA:379
Acute Transverse Myelitis
Orthostatic hypotension, Upper limb muscle weakness, Hypertension, Distal lower limb muscle weakn... ORPHA:139417
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Hypertension, Granulomatous coronary arteritis, Vascular dilatation, Pericardia... OMIM:108050
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Pmm2-Cdg
Anasarca, Multiple joint contractures, Hypertrophic cardiomyopathy, Lymphedema, Pericarditis, Ang... ORPHA:79318
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal arteriolar tortuosity, Cerebral hemorrhage, Corneal neovascularization, Facial paralysis,... OMIM:175780
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Unilateral cleft palate, Esophageal varix, Celiac dise... 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
Gastroesophageal reflux, Tracheoesophageal fistula, Colonic diverticula, Macroglossia, Rectal pro... ORPHA:904

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 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.

Order Mouse and ES Cells

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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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