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Gene: Adtrp MGI:1924596

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Gene Summary

Name:
androgen dependent TFPI regulating protein
Synonyms:
9530008L14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thin ventricular wall Adtrpem1(IMPC)Bay HOM Early adult 2.55×10-06

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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.

X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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
phenotypes		 Matching phenotypes Source
Hypobetalipoproteinemia, Familial, 2
Hypotriglyceridemia, Decreased LDL cholesterol concentration OMIM:605019
Apolipoprotein C-Iii Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Decreased LDL cholesterol concentra... OMIM:614028
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... OMIM:155100
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... ORPHA:90308
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Pneumonia, Thrombocytopenia, Giant platelets, Neutrop... ORPHA:238459
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute... ORPHA:3226
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Microcytic anemia, Intestinal bleeding, Arteriovenous malform... ORPHA:1059
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Increased mean ... ORPHA:182050
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Webbed neck ORPHA:638
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Skin rash, Gastriti... ORPHA:809
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Abnormal cerebral vasc... ORPHA:3318
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Recurrent skin infections, Predominantly lower limb lymphedema, Edema of the dorsu... ORPHA:568051
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Thin skin, Purpura ORPHA:745
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Thin skin, Subcu... ORPHA:743
Macs Syndrome
Prolonged bleeding time, Dilation of Virchow-Robin spaces, Palpebral edema, Bronchiectasis, Recur... OMIM:613075
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Inflammation of the large intes... OMIM:203300
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Erysipelas, Pedal edema, Varicose veins, Abnorma... ORPHA:79452
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Von Willebrand Disease
Venous insufficiency, Abnormal platelet function ORPHA:903
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... ORPHA:49566
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Thin skin, Esophagitis ORPHA:1901
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma ORPHA:425
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Proteus Syndrome
Splenomegaly, Venous malformation OMIM:176920
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Angioosteohypotrophic Syndrome
Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema ORPHA:75508
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... OMIM:263400
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Atherosclerosis OMIM:610842
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopen... ORPHA:91547
Kennedy Disease
Abnormal circulating lipid concentration ORPHA:481
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Osteoarthritis, Arterial rupture, Joint swellin... ORPHA:287
Kaposi Sarcoma
Venous insufficiency, Abnormality of the spleen, Skin rash, Lymphedema ORPHA:33276
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration OMIM:608709
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Aortic dissec... ORPHA:1900
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... ORPHA:335
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, Sinus bradycardia, Varicose ... OMIM:126320
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytope... ORPHA:64743
Scimitar Syndrome
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Descendi... ORPHA:185
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis, Varicose veins, Dilatat... OMIM:619656
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Pulmonary edema, Cerebral ... ORPHA:244242
Noonan Syndrome 9
Webbed neck, Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasi... OMIM:612541
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Tachycardia, Pericardial effusion, Patent ductus arter... OMIM:618280
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Arteriovenous malformation ORPHA:137608
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Ce... ORPHA:99901
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Dehydration, Le... OMIM:616271
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Nonimmune hydrops fetalis, Prolonged prothrombin time, Pleural effusion, Ascites OMIM:617049
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Skin rash, Edema, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukopenia, P... OMIM:603553
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Congestive heart failure, Dilated... ORPHA:367
Marburg Hemorrhagic Fever
Uveitis, Dehydration, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal b... ORPHA:99826
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... OMIM:619055
Lymphedema-Distichiasis Syndrome
Recurrent skin infections, Predominantly lower limb lymphedema, Patent ductus arteriosus, Tubuloi... ORPHA:33001
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Familial Cervical Artery Dissection
Abnormal circulating lipid concentration ORPHA:36382
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Stroke-li... OMIM:212065
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arterio... OMIM:153400
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Subarac... OMIM:610655
Thymic Carcinoma
Abnormal vena cava morphology, Palpebral edema, Edema ORPHA:99868
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Cardiac arrest, Edema, Leukocytosis, Dilated cardiomyopathy, Dehydration, Leu... ORPHA:20
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Infectious enceph... OMIM:267700
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Hepatitis, Coarctation of aorta, Chron... OMIM:614921
H Syndrome
Psoriasiform dermatitis, Microcytic anemia, Abnormal cardiovascular system physiology, Bronchiect... 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
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Congestive heart failure,... ORPHA:171
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia ORPHA:1979
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in infancy, Death in childhood, Prolonged prothrombin time, Neutropenia,... OMIM:617941
Stiff Skin Syndrome
Abnormal circulating lipid concentration ORPHA:2833
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Prol... ORPHA:2330
Yellow Fever
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Skin rash, Supraventricular arrhythmi... ORPHA:99829
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Prolonged prothrombin time, Recur... OMIM:212750
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time, Death in childhood OMIM:618641
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition OMIM:125310
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Giant cell hepatitis, Prolonged prothrombin time OMIM:214950
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Prolonged prothrombin time OMIM:616483
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Varicose veins, Keratoco... ORPHA:536532
Menkes Disease
Gastrointestinal hemorrhage, Osteomyelitis, Venous insufficiency, Arterial stenosis, Intracranial... ORPHA:565
Foix-Alajouanine Syndrome
Venous malformation, Arteriovenous fistula, Myelitis ORPHA:79093
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Mitral stenosis, Patent ductus arteriosus, Pulmonary arter... ORPHA:163956
Liver Failure, Infantile, Transient
Death in infancy, Prolonged prothrombin time OMIM:613070
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time, Hepatitis OMIM:613812
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Abnormal venous morphology, Abnormal cerebral vascular morphology, Se... ORPHA:276280
Clapo Syndrome
Varicose veins, Venous malformation, Lymphedema ORPHA:168984
Alg12-Cdg
Edema, Polyhydramnios, Patent ductus arteriosus, Recurrent pneumonia, Prolonged prothrombin time,... ORPHA:79324
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis ORPHA:88618
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Varicose veins, Pulmoni... OMIM:602782
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Varicose veins, Nephritis, Pyelonephritis OMIM:314300
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Heart murmur ORPHA:166035
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vascular dilatation OMIM:618343
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Eosin... OMIM:613795
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Pericardial effusion, Gout, Low-to-normal blood pressu... ORPHA:358
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis ORPHA:96168
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation, Webbed neck OMIM:612918
Proteus-Like Syndrome
Venous insufficiency, Splenomegaly, Thymus hyperplasia ORPHA:2969
Liposarcoma
Varicose veins ORPHA:69078
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Hepatitis, Cerebral edema, Intr... ORPHA:90062
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Varicose Veins
Varicose veins OMIM:192200
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Acne, Polyhydramnios, Seborrheic dermatitis, Retinal arteriolar tort... ORPHA:567
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Dilated cardiomyo... ORPHA:71212
Thymic Neuroendocrine Tumor
Abnormal vena cava morphology, Prominent veins on trunk ORPHA:97289
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Hypertrophic cardi... OMIM:276700
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Congestive heart failure, Keratoconjunctiviti... ORPHA:14
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Stroke, Cerebral edema OMIM:311250
Vascular Ehlers-Danlos Syndrome
Osteoarthritis, Periodontitis, Internal hemorrhage, Abnormal bleeding, Peripheral arteriovenous f... ORPHA:286
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aortic dissection, A... OMIM:130050
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins ORPHA:100991
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Prolonged prothrombin time OMIM:618329
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Osteoarthritis, Ascending tubular aorta aneurysm, Keratoconjunctivitis sicc... ORPHA:285
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Portal hypertension, Splenomegaly, Prolonged prothrombin time, Hypertrophic cardiomyopathy, Polyc... ORPHA:309854
Occipital Horn Syndrome
Venous insufficiency, Hepatitis, Esophagitis, Bruising susceptibility, Vascular dilatation ORPHA:198
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation ORPHA:83454
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Microcytic anemia, Thrombocytopenia, Splenomegaly, Prol... OMIM:619525
Thauvin-Robinet-Faivre Syndrome
Varicose veins, Transient neutropenia, Pedal edema OMIM:617107
Microphthalmia With Limb Anomalies
Venous insufficiency, Death in infancy ORPHA:1106
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... ORPHA:77293
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Prolonged prothrombin time, Corneal neovascularization ORPHA:404454
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time ORPHA:30391
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Varicose veins, Transient neutropenia, Chronic neutropenia ORPHA:500095
Norrie Disease
Venous insufficiency ORPHA:649

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 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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