Not currently registered for phenotyping at IMPC

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

Gene Summary

ankyrin repeat domain 17
4933425K22Rik,  Gtar,  A130069E23Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
Matching phenotypes Source
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, ... OMIM:227500
Congenital Factor Xiii Deficiency
Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage,... ORPHA:331
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Myocardial fibrosis, Joint he... ORPHA:465
Cerebral Cavernous Malformations
Intracranial hemorrhage OMIM:116860
Hemophilia B
Cephalohematoma, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleeding time, Int... ORPHA:98879
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Rhabdomyo... ORPHA:449285
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, I... ORPHA:79
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Endocardial fibrosis, Lef... OMIM:601493
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, Epistaxis, Menorrhagia, Gingiv... OMIM:227600
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Stroke-like episode, Abnormal left ventricle morphology... OMIM:300845
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Hypertension, Delayed puberty, Cerebral hemorrhage, Short s... ORPHA:280679
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Facial palsy, Hypertension OMIM:182410
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Brain Small Vessel Disease 2
Intracranial hemorrhage, Growth delay OMIM:614483
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral artery morphology, Myocar... ORPHA:90065
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Menkes Disease
Intracranial hemorrhage, Short stature, Intrauterine growth retardation OMIM:309400
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Stroke, Cerebral hemorrhage, Cerebral isc... ORPHA:136
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Stroke, Left bundle bra... OMIM:115197
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr... ORPHA:99147
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Left ventricular hypertrophy, Prolonged QT inte... ORPHA:251274
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Hydrops fetalis, Stillbirth, Intracranial hemorrhage, Flexion... ORPHA:85212
Cerebral Cavernous Malformations 3
Cerebral hemorrhage OMIM:603285
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Cerebral vasculitis, Stroke ORPHA:140989
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Klippel-Trénaunay Syndrome
Hydrops fetalis, Prolonged bleeding time, Atrial septal defect, Gastrointestinal hemorrhage, Inte... ORPHA:90308
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens... ORPHA:369929
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Pedal edema ORPHA:84090
Familial Afibrinogenemia
Abnormal bleeding, Joint swelling, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failu... ORPHA:99901
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebral hemorrhage, Ascites, Bru... ORPHA:99828
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Ascites, Bradycardia OMIM:617397
Extracranial Carotid Artery Aneurysm
Arteritis, Subarachnoid hemorrhage, Hypertension, Stroke, Cerebral ischemia, Vasculitis, Total an... ORPHA:494424
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Oral cavity bleeding, Int... ORPHA:324636
Propionic Acidemia
Cerebellar hemorrhage, Limb hypertonia, Dehydration, Short stature, Cardiomyopathy OMIM:606054
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Edema ORPHA:624
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Internal hemorrhage, Tachycardia, Right ventricula... ORPHA:335
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morphology, G... ORPHA:53719
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Muscular dystrophy, Abnor... ORPHA:300751
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Polycythemia Vera
Cerebral hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Gastrointestinal hemorrhage OMIM:263300
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Intraventricular hemorrhage, Short stature OMIM:616507
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Lymphedema, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Pseudoxanthoma Elasticum, Forme Fruste
Peau d'orange, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Mitral valve pr... OMIM:177850
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Petechiae, Short stature, Intrauterine growth ... OMIM:617053
Hypophosphatasia, Infantile
Intracranial hemorrhage, Disproportionate short-limb short stature, Polyhydramnios, Stillbirth OMIM:241500
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Tempi Syndrome
Intracranial hemorrhage, Ascites, Telangiectasia, Transudative pleural effusion ORPHA:284227
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Pleural... ORPHA:464329
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Isovaleric Acidemia
Dehydration, Cerebellar hemorrhage OMIM:243500
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Growth delay, Intraventricular hemorrhage, Abnormal heart morpho... ORPHA:79284
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke OMIM:263400
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus ORPHA:447788
Vascular Hyalinosis
Subarachnoid hemorrhage, Hematochezia OMIM:277175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Patent ductus arteriosu... ORPHA:163979
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Growth delay, Tricuspid regurgitation, Pulmonic stenosis, Cong... ORPHA:2414
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Oligohydramnios, Increased muscle lipid content, ... OMIM:608836
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart morphology, Subdural hemorrhage, Growth d... ORPHA:79282
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Intracranial hemorrhage, Pleural effusion, Stroke ORPHA:1163
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Hypertension, Aorti... ORPHA:363618
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Umbilical hernia, Dextrocardia, Bicuspid... ORPHA:536545
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Angina pectoris, Lymphedema, Short stature, Skeletal muscle atrophy, Myo... ORPHA:109
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Supraventricular arrhythmia, Intracranial hemorrhage, Pleural effusion, Vasculiti... ORPHA:3260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Ischemic stroke, Nail bed telangiectasia, Lip telangiectasia, Hemate... OMIM:600376
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Hematemesis, Intracranial hemorrhage, H... ORPHA:906
Menkes Disease
Gastrointestinal hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Umbilical hernia, In... ORPHA:565
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Cerebral arteriovenous malforma... OMIM:610655
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:187300
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Antenatal intracerebral hemorrhage, Postnatal growth retardation, Abnormal cerebral artery morpho... ORPHA:2177
Hellp Syndrome
Internal hemorrhage, Hypotension, Pleural effusion, Cerebral hemorrhage, Pulmonary edema, General... ORPHA:244242
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Aortic regurgitation, Abnormal mitral valve morphology, Angina pectoris,... ORPHA:740
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intrauterine growth retardation, Neonatal death, Intraventricular hemorrhage, Prolonged prothromb... OMIM:619055
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ... ORPHA:394
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Stroke ORPHA:100006
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalus ORPHA:25
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Cockayne Syndrome Type 3
Subdural hemorrhage, Flexion contracture, Stroke, Mild postnatal growth retardation, Increased bl... ORPHA:90324
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Short stature, Hypertension ORPHA:90795
Acys Amyloidosis
Cerebral hemorrhage, Stroke ORPHA:100008
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Rhizomelia, Growth delay, Flexion contract... ORPHA:666
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Intrauterine growth retardation, Bradycardia, Hy... OMIM:618775
Nelson Syndrome
Intracranial hemorrhage, Lower limb muscle weakness, Hypertension, Quadriceps muscle atrophy ORPHA:199244
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage, Subarachnoid hemorrhage... ORPHA:247245
Parkes Weber Syndrome
Abnormal bleeding, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, Lower limb muscl... ORPHA:90307
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Pleural effusion, Hemothorax, Peri... ORPHA:199241
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Abnormal heart morphology, Ventr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Abnormal heart morphology, Ventr... ORPHA:363958
Lower limb muscle weakness, Cerebral hemorrhage, Facial palsy, Upper limb muscle weakness, Hydroc... ORPHA:2495
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial septal defect, Subarachnoid hemorrhage, Camptodactyly, Atrial fib... OMIM:613795
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension, Shock, Cere... ORPHA:90062
Riddle Syndrome
Conjunctival telangiectasia, Telangiectasia, Intraventricular hemorrhage, Short stature ORPHA:420741
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Abnormal left ventricular function, Tendon xanthomatosis, ... ORPHA:391665
Visceral Steatosis, Congenital
Abnormal bleeding, Neonatal death, Myocardial steatosis OMIM:228100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Facial paralysis, Cerebral hemorrhage, Corneal neovascularization, Hydrocephalus OMIM:175780
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis, Hypertension OMIM:108050
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage ORPHA:221061
Anasarca, Pericarditis, Angina pectoris, Intracranial hemorrhage, Lymphedema, Pericardial effusio... ORPHA:79318
Tuberous Sclerosis Complex
Hypertension, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Internal hemorrhage ORPHA:805
Hepatocellular Carcinoma
Anasarca, Internal hemorrhage, Hypotension, Budd-Chiari syndrome, Pedal edema, Ascites, Portal hy... ORPHA:88673
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Internal hemorrhage, Mitral valve prolapse, Renovascular hypertension, Abnorma... ORPHA:286


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

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