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Gene: Ankrd17 MGI:1932101

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ankyrin repeat domain 17
Synonyms:
A130069E23Rik,  4933425K22Rik,  Gtar

Order Alleles

IMPC Data Collections

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

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.

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 Ankrd17 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 Ankrd17 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chopra-Amiel-Gordon Syndrome
Short stature, Postnatal growth retardation OMIM:619504

The table below shows human diseases predicted to be associated to Ankrd17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
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
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... ORPHA:169805
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... ORPHA:169802
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... ORPHA:465
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Joint swelling, Intr... ORPHA:98878
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Cere... ORPHA:449285
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Periventricular Nodular Heterotopia 1
Stroke, Bicuspid aortic valve, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Sneddon Syndrome
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, De... ORPHA:280679
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra... ORPHA:136
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage... ORPHA:97339
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Postnatal... OMIM:300845
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage ORPHA:98880
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Edema, Congestive heart... ORPHA:90308
Methanol Poisoning
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... ORPHA:31825
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... ORPHA:494424
Fetal Gaucher Disease
Neonatal death, Stillbirth, Intracranial hemorrhage, Hydrops fetalis, Arthrogryposis multiplex co... ORPHA:85212
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Ascites, Pleural effusion, Petechiae, Bradycardia, Cerebral hemorr... OMIM:617397
Joubert Syndrome 14
Growth delay, Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial ... OMIM:614424
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... OMIM:620300
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Peau ... OMIM:177850
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Subdural hemorrhage, Multiple joint contractures, Polyhydramnios, Spina ... OMIM:618291
Fibronectin Glomerulopathy
Hypertension, Pedal edema, Cerebral hemorrhage ORPHA:84090
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell... ORPHA:99901
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Polyhydr... OMIM:615368
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Short stature, Dehydration OMIM:606054
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Edema, Intracranial hemorrhage, ... ORPHA:324636
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... OMIM:605714
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Menkes Disease
Short stature, Intrauterine growth retardation, Intracranial hemorrhage OMIM:309400
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Myopathy, Subarachnoi... OMIM:185070
Parkes Weber Syndrome
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Lower limb muscle... ORPHA:90307
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Skeletal muscle atrophy, Subdural hemorrhage, Inc... OMIM:620278
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Mirage Syndrome
Intrauterine growth retardation, Petechiae, Hydrocephalus, Short stature, Intracranial hemorrhage... OMIM:617053
Nephrosialidosis
Pericardial effusion, Bone-marrow foam cells, Ascites OMIM:256150
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Dilatation of the cerebral artery, Limb muscle weakness, Pleural... OMIM:232300
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Abnormal lymphatic vesse... ORPHA:464329
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Ascites, Transudative pleural effusion ORPHA:284227
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphedema ORPHA:3226
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:403
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Familial Hyperaldosteronism Type Ii
Epistaxis, Intracranial hemorrhage, Hypertension ORPHA:404
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Hydrops Fetalis
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... ORPHA:1041
Hypophosphatasia, Infantile
Polyhydramnios, Intracranial hemorrhage, Disproportionate short-limb short stature, Stillbirth OMIM:241500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Dehydration, Cardiomyopathy OMIM:251000
Isovaleric Acidemia
Cerebellar hemorrhage, Dehydration OMIM:243500
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Tarp Syndrome
Subdural hemorrhage, Tetralogy of Fallot, Intrauterine growth retardation, Oligohydramnios, Neona... OMIM:311900
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Oligohydramnios, Increased nuchal translucency, Fetal intraventricular hemorrhage, Limb hypertoni... OMIM:618480
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal heart morphology, Intrauterine growth retardation, Intraventricular hemorrhage, Growth d... ORPHA:79284
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Tricuspid regurgitation, Retinal arterial tortuosity, Patent foramen ovale, Card... OMIM:620371
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Skeletal muscle atrophy, Lymphedema, Subcutaneous hemorrhage, Myopath... ORPHA:109
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Aspergillosis
Stroke, Intracranial hemorrhage, Pleural effusion ORPHA:1163
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Ascite... ORPHA:99827
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Short st... ORPHA:163979
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Intra... ORPHA:79282
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao... OMIM:239850
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Intrauterine growth retarda... ORPHA:565
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial... ORPHA:536545
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Oligohydramnios, Increased muscle lipid conten... OMIM:608836
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech... ORPHA:340
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart... ORPHA:3260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Abnormal internal carotid artery m... ORPHA:2177
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Short stature, Intrauterine growth retardation, Subdural hemorrhage, Skeletal muscle hypertrophy OMIM:619714
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... ORPHA:244242
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Arachnoid Cyst
Lower limb muscle weakness, Encephalocele, Subarachnoid hemorrhage, Facial palsy, Hydrocephalus, ... ORPHA:2356
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro... ORPHA:90324
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcutaneous hemorrh... ORPHA:394
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Intraventricular hemorrhage, Prolonged prothrombin time, Neonata... OMIM:619055
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Communicating hydrocephalus, Subdural hemorrhage ORPHA:25
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Lower limb muscle weakness, Abnormal vertebral art... ORPHA:247245
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Subarachnoid hemorrhage, Growth delay, Cerebral vasculitis OMIM:243700
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Osteogenesis Imperfecta, Type Xvii
Short stature, Intraventricular hemorrhage, Decreased muscle mass OMIM:616507
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Short stature, Intracranial hemorrhage, Hypertension ORPHA:90795
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Osteogenesis Imperfecta
Aortic regurgitation, Arterial dissection, Rhizomelia, Aortic root aneurysm, Aortic dissection, B... ORPHA:666
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Abnormal bleeding, Cardiomyopathy, Pleural effusion, Polyhydramnios, ... ORPHA:292
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Intraventricular hemorrhage OMIM:616430
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Nelson Syndrome
Quadriceps muscle atrophy, Intracranial hemorrhage, Hypertension, Lower limb muscle weakness ORPHA:199244
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Prolonged bleeding t... OMIM:618280
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Premature arteriosclerosis, Calcification of the aort... ORPHA:391665
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hand muscle atrophy, Ven... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Hand muscle atrophy, Ven... ORPHA:363958
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Polyhydramnios, Intraventricular hemorrhage, Hydrocephalus OMIM:613603
Dpagt1-Cdg
Anasarca, Stroke-like episode, Camptodactyly, Prolonged QT interval, Intracranial hemorrhage, Fle... ORPHA:86309
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Meningioma
Upper limb muscle weakness, Lower limb muscle weakness, Syncope, Hydrocephalus, Cerebral hemorrha... ORPHA:2495
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... ORPHA:90062
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia, Short stature ORPHA:420741
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Facial paralysis, Retinal arteriolar tortuosity, Ischemic strok... OMIM:175780
Acute Transverse Myelitis
Upper limb muscle weakness, Distal lower limb muscle weakness, Subarachnoid hemorrhage, Orthostat... ORPHA:139417
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation, Polyhydramnios, Congenital diaphragmatic hern... OMIM:613406
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Abn... ORPHA:77261
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion OMIM:618183
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Dehydration,... ORPHA:99826
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art... ORPHA:51608
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Vascular Ehlers-Danlos Syndrome
Mitral valve prolapse, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric... ORPHA:286
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Aortic aneurysm, Internal hemorrhage, Hypert... ORPHA:805
Pmm2-Cdg
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, ... ORPHA:79318
Yellow Fever
Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Bradycardia, Excessive blee... ORPHA:99829
Chopra-Amiel-Gordon Syndrome
Short stature, Postnatal growth retardation OMIM:619504

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 Ankrd17

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 Ankrd17.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mask family proteins ANKHD1 and ANKRD17 regulate YAP nuclear import and stability. eLife (October 2019) Ankrd17tm1a(EUCOMM)Hmgu PMC6861002

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MGI Allele Allele Type Produced
Ankrd17tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ankrd17em1(IMPC)Ccpcz Exon Deletion Mice
Ankrd17tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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