Gene Summary

androgen dependent TFPI regulating protein

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
thin ventricular wall Adtrpem1(IMPC)Bay HOM Early adult 2.49×10-06

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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.


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Forepaw

10 Images

Human diseases caused by Adtrp 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 Adtrp by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypobetalipoproteinemia, Familial, 2
Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:605019
Apolipoprotein C-Iii Deficiency
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Increased HDL cholesterol concentra... OMIM:614028
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Peripheral arteriovenou... ORPHA:90308
Essential Thrombocythemia
Acute leukemia, Prolonged bleeding time, Abnormal cerebral vascular morphology, Abnormal bleeding... ORPHA:3318
Pneumonia, Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn... ORPHA:238459
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Prolonged bleeding time, Bruising susceptibility, Lymphedema, Leukocytosis, Splen... ORPHA:3226
Blue Rubber Bleb Nevus
Intestinal bleeding, Arteriovenous malformation, Microcytic anemia, Skin rash, Prolonged bleeding... ORPHA:1059
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Myh9-Related Disease
Nephritis, Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurr... ORPHA:182050
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu... ORPHA:906
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Webbed neck, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Xerostomia, Leukopenia, Skin rash, Joint swelling, Splenomegaly, Myo... ORPHA:809
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Bruising sus... OMIM:601399
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Congenital Factor Ii Deficiency
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... ORPHA:325
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels... ORPHA:568051
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Recurrent otitis media, Lymphopenia, Decr... OMIM:301000
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency, Purpura, Thin skin ORPHA:745
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Venous insuff... ORPHA:743
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Macs Syndrome
Dilation of Virchow-Robin spaces, Prolonged bleeding time, Bruising susceptibility, Recurrent aph... OMIM:613075
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti... ORPHA:903
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Milroy Disease
Predominantly lower limb lymphedema, Abnormal venous morphology, Erysipelas, Lymphedema, Varicose... ORPHA:79452
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Livedoid Vasculopathy
Polycythemia, Macular purpura, Pancytopenia, Ischemic stroke, Leukocytosis, Superficial dermal pe... ORPHA:542643
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Acquired Purpura Fulminans
Macular purpura, Shock, Skin rash, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin t... ORPHA:49566
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Dermatosparaxis Ehlers-Danlos Syndrome
Esophagitis, Prolonged bleeding time, Thin skin ORPHA:1901
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Apolipoprotein A-I Deficiency
Xanthelasma, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration ORPHA:425
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... ORPHA:90186
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema ORPHA:75508
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Varicose veins, Increased red blood cell mass, Increased circu... OMIM:263400
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time, Atherosclerosis OMIM:610842
Relapsing Fever
Epistaxis, Hypotension, Abnormal bleeding, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophil... ORPHA:91547
Classical Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Dilatation of the cerebral ar... ORPHA:287
Kaposi Sarcoma
Abnormality of the spleen, Skin rash, Venous insufficiency, Lymphedema ORPHA:33276
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Kennedy Disease
Abnormal circulating lipid concentration ORPHA:481
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Pedal ... OMIM:126320
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Recurrent pneumonia, Abnormal bleeding, Abnormal venous morphology, Aortic d... ORPHA:1900
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Parkes Weber Syndrome
Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Venous malformation, Spinal a... ORPHA:90307
Lymphatic Malformation 6
Facial edema, Webbed neck, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lympha... OMIM:616843
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Ascites, Hypersplenism, Leukopenia, Portal hypert... ORPHA:64743
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Cardiac-Urogenital Syndrome
Accessory spleen, Interrupted aortic arch, Prolonged bleeding time, Tetralogy of Fallot, Scimitar... OMIM:618280
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Congestive heart failure, Anomalous ori... ORPHA:185
Noonan Syndrome 9
Prolonged prothrombin time, Webbed neck, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Hellp Syndrome
Generalized edema, Hypotension, Microangiopathic hemolytic anemia, Decreased mean corpuscular hem... ORPHA:244242
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Varicose veins, Mitral regurgitation, Otitis media, ... OMIM:612541
Hemophagocytic Lymphohistiocytosis, Familial, 2
Generalized edema, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Skin rash, Spl... OMIM:603553
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency, Congestive heart failure ORPHA:137608
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Leukopenia, Neutropenia, Thromb... OMIM:616271
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Tach... ORPHA:99826
Absence Of The Pulmonary Artery
Recurrent pneumonia, Atrial flutter, Abnormal coronary artery morphology, Congestive heart failur... ORPHA:980
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Ascites, Hepatosplenomegaly, Portal hypertensio... ORPHA:367
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intraventricular hemo... OMIM:619055
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Webbed neck, Arrhythmia, Varicose veins, Tubulointerstitial ... ORPHA:33001
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Death in infancy, Nonimmune hydrops fetalis, Prolonged prothrombin time OMIM:617049
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Stroke-like episode, Death in childhood, Death in infancy, Nonimmune hydrops feta... OMIM:212065
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Vertebral artery aneurysm, Bruising susceptibility, Arterial tortuosity, Dila... OMIM:619656
Thymic Carcinoma
Palpebral edema, Abnormal vena cava morphology, Edema ORPHA:99868
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Webbed neck, Chylothorax, Lymphedema, Tetralogy of Fallot, N... OMIM:153400
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Dehydration, Leukopenia, Leukocytosis, Prolonged prothrombin... ORPHA:20
Truncus Arteriosus
Abnormal coronary artery morphology, Pulmonary edema, Single coronary artery origin, Tachycardia,... ORPHA:3384
Hemophagocytic Lymphohistiocytosis, Familial, 1
Generalized edema, Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Thrombocy... OMIM:267700
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Hepatitis, Recurrent otitis media, Coarctat... OMIM:614921
H Syndrome
Microcytic anemia, Upper eyelid edema, Abnormal cardiovascular system physiology, Facial telangie... ORPHA:168569
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation, Lymphedema OMIM:613089
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Dilatation... OMIM:614816
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope, Orthostati... ORPHA:71273
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in childhood, Death in infancy, Thrombocytopenia, Neutropenia, Prolonged... OMIM:617941
Enlarged Parietal Foramina
Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Coarctation of aorta, Pulmonic stenosis OMIM:614300
Yellow Fever
Neutrophilia, Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Leukocytosis,... ORPHA:99829
Infantile Liver Failure Syndrome 3
Splenomegaly, Death in childhood, Prolonged prothrombin time OMIM:618641
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Vascular granular osmiophilic material deposition, Stroke, Varicose veins OMIM:125310
Celiac Disease, Susceptibility To, 1
Eczematoid dermatitis, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, ... OMIM:212750
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Cardiomyopathy OMIM:616483
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Hepatitis, Congestive heart failure, Ascites, Hepatospl... ORPHA:171
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Giant cell hepatitis, Prolonged prothrombin time OMIM:214950
Classical-Like Ehlers-Danlos Syndrome Type 2
Webbed neck, Periodontitis, Aortic root aneurysm, Prominent veins on trunk, Bruising susceptibili... ORPHA:536532
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Pate... ORPHA:163956
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Osteomyelitis, Arterial stenosis, Venous insu... ORPHA:565
Foix-Alajouanine Syndrome
Myelitis, Venous malformation, Arteriovenous fistula ORPHA:79093
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Death in infancy OMIM:613070
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Hematochezia, Hepatitis, Splenomegaly OMIM:613812
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Telangiectasia of the skin, Seborrheic dermatitis, Abnorma... ORPHA:276280
Clapo Syndrome
Varicose veins, Venous malformation, Lymphedema ORPHA:168984
Recurrent pneumonia, Chronic rhinitis, Thrombocytopenia, B lymphocytopenia, Polyhydramnios, Prolo... ORPHA:79324
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Hydrops fetalis, Cardiomyopathy ORPHA:88618
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Pyelonephritis, Varicose veins OMIM:314300
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Giant cell hepatitis, Extramedullary hematopoiesis ORPHA:79303
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Facial telangiectasia, Episcleritis, Splenomegaly, Pulmonary arterial hyperte... OMIM:602782
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Abnormal vena cava morphology ORPHA:166035
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Bruising susceptibility, Aortic dissection, Vascular dilatation, Varicose veins, Pulmonic stenosis OMIM:618343
Monosomy 13Q34
Prolonged prothrombin time, Hematochezia, Epistaxis, Pulmonic stenosis ORPHA:96168
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Gout, ST segment depressio... ORPHA:358
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Knee osteoarthritis,... OMIM:613795
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Webbed neck, Venous malformation, Splenomegaly OMIM:612918
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Venous insufficiency ORPHA:2969
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Hepatitis, Bruising susceptibility, ... ORPHA:90062
Varicose veins ORPHA:69078
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:3166
Varicose Veins
Varicose veins OMIM:192200
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Tetralogy of F... ORPHA:567
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Prolonged QT interval, Prolonged prothrombin time, Dilated cardiomyo... ORPHA:71212
Thymic Neuroendocrine Tumor
Abnormal vena cava morphology, Prominent veins on trunk ORPHA:97289
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Epistaxis, Thin skin, Aortic root aneurysm, Bruising susceptibility, Venous ... ORPHA:285
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Calcificatio... ORPHA:2072
Abnormal bleeding, Congestive heart failure, Acanthocytosis, Reticulocytosis, Keratoconjunctiviti... ORPHA:14
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Ascites, Splenomegaly, Prolonged prothr... OMIM:276700
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Stroke, Cerebral edema, Prolonged prothrombin time OMIM:311250
Vascular Ehlers-Danlos Syndrome
Periodontitis, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels... ORPHA:286
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins ORPHA:100991
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Prolonged prothrombin time OMIM:618329
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Periodontitis, Bruising susceptibility, Dilatation of the cerebral a... OMIM:130050
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Hypertrophic cardiomyopathy, Portal hypertension, Splenomegaly, Prolonged prothromb... ORPHA:309854
Occipital Horn Syndrome
Bruising susceptibility, Hepatitis, Esophagitis, Venous insufficiency, Vascular dilatation ORPHA:198
Glomuvenous Malformation
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation ORPHA:83454
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Microcytic anemia, Tetralogy of Fallot, Splenomegaly, Membranoproliferati... OMIM:619525
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Pedal edema, Varicose veins OMIM:617107
Microphthalmia With Limb Anomalies
Death in infancy, Venous insufficiency ORPHA:1106
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Corneal neovascularization, Prolonged prothrombin time ORPHA:404454
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time ORPHA:30391
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Proteus Syndrome
Pulmonary embolism, Thymus hyperplasia, Arteriovenous malformation, Lymphedema, Venous malformati... ORPHA:744
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia, Varicose veins ORPHA:500095
Norrie Disease
Venous insufficiency ORPHA:649


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 Adtrp

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 Adtrp.

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

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MGI Allele Allele Type Produced
Adtrptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Adtrptm105951(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adtrpem1(IMPC)Bay Exon Deletion Mice

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