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 2.66×10-06

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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 Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Forepaw

10 Images


XRay Images Skull Lateral Orientation

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
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... OMIM:155100
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Pancreatic Lipase Deficiency
Hypolipidemia, Steatorrhea OMIM:614338
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Hydrops fetalis, Pulmonary embolism, Prolonged bleeding time, M... ORPHA:90308
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Neutropenia, Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding... ORPHA:238459
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Fechtner syndrome
Nephritis, Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, ... OMIM:153640
Blue Rubber Bleb Nevus
Arteriovenous malformation, Intestinal bleeding, Skin rash, Microcytic anemia, Prolonged bleeding... ORPHA:1059
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he... ORPHA:3226
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Bruising susceptibility, Menorrhagia, Congenital thromboc... ORPHA:182050
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Von Willebrand Disease, Type 3
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... OMIM:277480
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Factor V Deficiency
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... OMIM:227400
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... OMIM:314050
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolo... ORPHA:906
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Webbed neck, Hypertrophic cardiomyopathy, Prolonged bleeding time ORPHA:638
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Hematemesis, Subdural hemorrhage, Persistent bleeding after tr... OMIM:202400
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... OMIM:139090
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Recurrent skin infections, Abno... ORPHA:568051
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... OMIM:601399
Mixed Connective Tissue Disease
Joint swelling, Gastritis, Skin rash, Splenomegaly, Leukopenia, Xerostomia, Myositis, Myocarditis... ORPHA:809
Essential Thrombocythemia
Splenomegaly, Myocardial infarction, Abnormal platelet morphology, Abnormal cerebral vascular mor... ORPHA:3318
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Purpura, Thin skin, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Pulmonary embolism, Purpura, Thin skin, Abnormal cerebral vascular morph... ORPHA:743
Congenital Factor Ii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... ORPHA:325
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Lymphopenia, Otitis media, Eczema, Decreased mean platelet volume, Inflammation of the... OMIM:600903
Wiskott-Aldrich Syndrome
Melena, Eczema, Decreased mean platelet volume, Large vessel vasculitis, Prolonged bleeding time,... OMIM:301000
Stuve-Wiedemann Syndrome 2
Eczema, Death in adolescence, Neonatal death, Thrombocytopenia, Pulmonary arterial hypertension, ... OMIM:619751
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... OMIM:614074
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platele... OMIM:614075
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Hermansky-Pudlak Syndrome 1
Colitis, Bruising susceptibility, Inflammation of the large intestine, Hematochezia, Gingival ble... OMIM:203300
Macs Syndrome
Bruising susceptibility, Palpebral edema, Recurrent aphthous stomatitis, Aortic aneurysm, Bronchi... OMIM:613075
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Neutropenia, Splenomeg... OMIM:608233
Milroy Disease
Predominantly lower limb lymphedema, Erysipelas, Abnormal venous morphology, Lymphedema, Pedal ed... ORPHA:79452
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Arrhythmia, Pulmonary embolism, Edema, Venou... ORPHA:624
Livedoid Vasculopathy
Telangiectasia of the skin, Abnormal capillary morphology, Leukocytosis, Recurrent skin infection... ORPHA:542643
Von Willebrand Disease
Abnormal platelet function, Venous insufficiency ORPHA:903
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Prominent superficial veins, Venous malformation, Edema ORPHA:75508
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... ORPHA:90186
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Anemia, Varicose vei... OMIM:617300
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Congenital Factor Vii Deficiency
Joint hemorrhage, Bruising susceptibility, Post-partum hemorrhage, Intracranial hemorrhage, Menor... ORPHA:327
Erythrocytosis, Familial, 2
Stroke, Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, In... OMIM:263400
Storage Pool Platelet Disease
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Kaposi Sarcoma
Lymphedema, Abnormality of the spleen, Venous insufficiency, Skin rash ORPHA:33276
Acquired Purpura Fulminans
Skin rash, Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia... ORPHA:49566
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Congenital Heart Defects, Multiple Types, 3
Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent left superior vena ca... OMIM:614954
Apolipoprotein A-I Deficiency
Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Xanthelasma ORPHA:425
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Bruising susceptibility, Abnormal bleeding, Arterial dissection, Abnormal venous morphology, Aort... ORPHA:1900
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid co... OMIM:615980
Dermatosparaxis Ehlers-Danlos Syndrome
Thin skin, Esophagitis, Prolonged bleeding time ORPHA:1901
Familial Idiopathic Dilatation Of The Right Atrium
Tricuspid regurgitation, Atrial septal dilatation, Palpitations, Midsystolic murmur, Arrhythmia, ... ORPHA:1677
Parkes Weber Syndrome
Arteriovenous malformation, Bounding pulse, High-output congestive heart failure, Peripheral arte... ORPHA:90307
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Pedal edema, Patent ductus arteriosus, Sinus bradycardia, Varicose ... OMIM:126320
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Miscarriage, Spinal arteriovenous malformation, Hemothorax, P... OMIM:187300
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Atherosclerosis OMIM:610842
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration OMIM:608709
Kennedy Disease
Abnormal circulating lipid concentration ORPHA:481
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Classical Ehlers-Danlos Syndrome
Abnormal heart valve physiology, Joint swelling, Bruising susceptibility, Orthostatic hypotension... ORPHA:287
Loeys-Dietz Syndrome 6
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Hip osteoarthriti... OMIM:619656
Relapsing Fever
Neutrophilia, Leukocytosis, Abnormal bleeding, Leukopenia, Tachycardia, Hypotension, Anemia, Thro... ORPHA:91547
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency, Congestive heart failure ORPHA:137608
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Otitis media, Pulmonic stenosis, Mitral regurgitation, Splenomegaly, Hypoplasia of t... OMIM:612541
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Arrhythmia, Tetralogy of Fallot, Lymphedema, Patent ductus a... OMIM:153400
Scimitar Syndrome
Double outlet right ventricle, Anomalous pulmonary venous return, Left-to-right shunt, Left super... ORPHA:185
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Recurrent skin infections, Arrhythmia, Tubulointerstitial ne... ORPHA:33001
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Absence Of The Pulmonary Artery
Pulmonary edema, Systolic heart murmur, Tachycardia, Right aortic arch, Abnormal coronary artery ... ORPHA:980
Thymic Carcinoma
Abnormal vena cava morphology, Palpebral edema, Edema ORPHA:99868
Hepatoportal Sclerosis
Splenomegaly, Abnormal bleeding, Leukopenia, Thrombocytopenia, Portal hypertension, Gastrointesti... ORPHA:64743
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Persistent... OMIM:617478
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Ecchymosis, Ep... OMIM:277450
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Venous varicosities of celiac and mesenteric vessels, Cereb... OMIM:610655
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Interrupted aortic arch, Anom... ORPHA:3384
Noonan Syndrome 9
Pulmonic stenosis, Webbed neck, Prolonged prothrombin time, Coarctation of aorta OMIM:616559
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Varicose veins, Venous malformation OMIM:613089
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Chronic otitis media, Chronic r... ORPHA:244
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Death in childhood, Access... OMIM:608978
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Hemolytic anemia, Decreased mean corpuscular h... ORPHA:244242
Hepatocellular Carcinoma
Budd-Chiari syndrome, Polycythemia, Venous insufficiency, Hypotension, Thrombocytopenia, Thromboc... ORPHA:88673
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Abnormal circulating lipid concentration, Hypercholesterol... ORPHA:567548
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Thrombocytopenia, Dilated cardiomyopathy, Hypertroph... ORPHA:99901
Marburg Hemorrhagic Fever
Pancreatitis, Maculopapular exanthema, Uveitis, Reticulocytosis, Pericarditis, Abnormal bleeding,... ORPHA:99826
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Dehydration, Leukopenia, Polyhydramnios, Recurrent pneumonia, Neutropenia, Thr... OMIM:616271
Cardiac-Urogenital Syndrome
Scimitar anomaly, Accessory spleen, Tachycardia, Tetralogy of Fallot, Partial anomalous pulmonary... OMIM:618280
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Dilated cardiomyopathy, Portal hyp... ORPHA:367
H Syndrome
Histiocytosis, Upper eyelid edema, Hepatosplenomegaly, Chronic rhinitis, Abnormal cardiovascular ... ORPHA:168569
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Intraventricular hemorrhage, Death in adolescence, Neonatal death, Death in i... OMIM:619055
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Leukopenia, Infectious encephaliti... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Death in infancy, Pleural effusion, Ascites, Prolonged prothrombin time OMIM:617049
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Prolonged prothrombin time, Nonimmune hydrops fetalis, Stroke-like episode, P... OMIM:212065
Cardiac Diverticulum
Angina pectoris, Tricuspid stenosis, Palpitations, Arrhythmia, Tetralogy of Fallot, Syncope, Pate... ORPHA:1686
Renal Nutcracker Syndrome
Orthostatic hypotension, Vulval varicose vein, Tachycardia, Syncope, Anemia, Varicose veins, Dila... ORPHA:71273
Menkes Disease
Osteomyelitis, Abnormal carotid artery morphology, Intracranial hemorrhage, Vascular dilatation, ... ORPHA:565
Heterotaxy, Visceral, 4, Autosomal
Right aortic arch, Dextrotransposition of the great arteries, Pulmonary artery atresia, Polysplen... OMIM:613751
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Se... ORPHA:276280
Clapo Syndrome
Lymphedema, Varicose veins, Venous malformation ORPHA:168984
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Dehydration, Leukopenia, Hypotension, Acute pancreatitis, Thrombocytosis, Dilated c... ORPHA:20
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Periodontitis, Webbed neck, Bruising susceptibility, Aortic root aneury... ORPHA:536532
Foix-Alajouanine Syndrome
Myelitis, Venous malformation, Arteriovenous fistula ORPHA:79093
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Peripheral arteriovenous fistula, Pulmonary embolism, Lymphedema, Gas... ORPHA:2346
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Oligohydram... ORPHA:163956
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Splenomegaly, Leukopenia, Infectious encephalitis, Generalized edema, Anemia, T... OMIM:267700
Congenital Disorder Of Glycosylation, Type It
Chronic hepatitis, Sudden cardiac death, Tachycardia, Coarctation of aorta, Hepatitis, Dilated ca... OMIM:614921
Aorta Coarctation
Stroke, Coarctation of the descending aortic arch, Tetralogy of Fallot, Hypoplastic aortic arch, ... ORPHA:1457
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Varicose veins, Nephritis OMIM:314300
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Hyperlipoproteinemia, Abnormal circulating lipid concentration ORPHA:1979
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Splenomegaly, Pulmonic stenosis, Hepatosplenomegaly, Left superior vena cava drain... OMIM:602782
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Webbed neck, Venous malformation, Splenomegaly OMIM:612918
Infantile Liver Failure Syndrome 3
Death in childhood, Prolonged prothrombin time, Splenomegaly OMIM:618641
Stiff Skin Syndrome
Abnormal circulating lipid concentration ORPHA:2833
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Stroke, Lacunar stroke, Varicose veins OMIM:125310
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Bruising susceptibility, Aortic dissection, Vascular dilatation, Varicose veins OMIM:618343
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Heart murmur ORPHA:166035
Shwachman-Diamond Syndrome 2
Death in childhood, Normocytic anemia, Death in infancy, Neutropenia, Thrombocytopenia, Prolonged... OMIM:617941
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Skin rash, Neutrophilia, Leukocytosis, Abnormal bleedin... ORPHA:99829
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Aortic tortuosity, Subarachnoid hemorrhage, Dilatation of the sinus o... OMIM:613795
Gitelman Syndrome
Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, Gout, Syncope, Iron def... ORPHA:358
Primary Sclerosing Cholangitis
Pancreatitis, Splenomegaly, Palmar telangiectasia, Hepatosplenomegaly, Spider hemangioma, Dilated... ORPHA:171
Varicose veins ORPHA:69078
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphology, Purpura, Neutropeni... ORPHA:2330
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Cardiomyopathy OMIM:616483
Proteus-Like Syndrome
Thymus hyperplasia, Venous insufficiency, Splenomegaly ORPHA:2969
Varicose Veins
Varicose veins OMIM:192200
Celiac Disease, Susceptibility To, 1
Eczema, Macrocytic anemia, Iron deficiency anemia, Stomatitis, Thrombocytosis, Recurrent aphthous... OMIM:212750
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Death in infancy OMIM:613070
22Q11.2 Deletion Syndrome
Splenomegaly, Corneal neovascularization, Hypoplasia of the thymus, Chronic otitis media, Tetralo... ORPHA:567
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Abnormal vena cava morphology ORPHA:97289
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Cardiomyopathy, Prolonged prothrombin time ORPHA:88618
B lymphocytopenia, Chronic rhinitis, Polyhydramnios, Patent ductus arteriosus, Recurrent pneumoni... ORPHA:79324
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Giant cell hepatitis, Prolonged prothrombin time ORPHA:79303
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Splenomegaly, Calcification of the aorta, Hepatosplenomegaly, Abnormality... ORPHA:2072
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Pulmonary artery aneurysm, Aortic dissection, Transient ischemic atta... ORPHA:286
Monosomy 13Q34
Pulmonic stenosis, Epistaxis, Prolonged prothrombin time, Hematochezia ORPHA:96168
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins ORPHA:100991
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Acute Liver Failure
Skin rash, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Hepa... ORPHA:90062
Ehlers-Danlos Syndrome, Vascular Type
Periodontitis, Bruising susceptibility, Hemothorax, Recurrent intrapulmonary hemorrhage, Carotid ... OMIM:130050
Hypermobile Ehlers-Danlos Syndrome
Osteoarthritis, Arterial dissection, Arrhythmia, Thin skin, Ascending tubular aorta aneurysm, Ker... ORPHA:285
Harrod Syndrome
Varicose veins OMIM:601095
Hepatosplenomegaly, Prolonged prothrombin time ORPHA:3166
Occipital Horn Syndrome
Bruising susceptibility, Hepatitis, Vascular dilatation, Esophagitis, Venous insufficiency ORPHA:198
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration ORPHA:79086
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Prolonged prothrombin time, Hypertrophic cardiomyo... ORPHA:71212
Glomuvenous Malformation
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation ORPHA:83454
Abnormal bleeding, Reticulocytosis, Keratoconjunctivitis sicca, Acanthocytosis, Anemia, Prolonged... ORPHA:14
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Cerebral edema, Stroke OMIM:311250
Tyrosinemia, Type I
Melena, Splenomegaly, Hypertrophic cardiomyopathy, Gastrointestinal hemorrhage, Anemia, Ascites, ... OMIM:276700
Microphthalmia With Limb Anomalies
Venous insufficiency, Death in infancy ORPHA:1106
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Prolonged prothrombin time OMIM:618329
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia, Portal hypertension, Hypertrophic cardiomyopathy, Prolonged prothromb... ORPHA:309854
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Venous malformation ORPHA:221061
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Varicose veins, Transient neutropenia ORPHA:500095
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Bleeding with minor or no trauma, Membranoproliferative glomerulonephritis, Tetralo... OMIM:619525
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Increased LDL cholesterol concentration, Abnormal circulating lipid concentration... ORPHA:77293
Thauvin-Robinet-Faivre Syndrome
Varicose veins OMIM:617107
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Prolonged prothrombin time, Splenomegaly ORPHA:404454
Isolated Biliary Atresia
Prolonged prothrombin time, Splenomegaly ORPHA:30391
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, Tissue

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