banner
Genes Phenotypes Help, News, Blog

Gene: Emilin1 MGI:1926189

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
elastin microfibril interfacer 1
Synonyms:
gp115,  5830419M17Rik,  EMILIN-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Emilin1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Emilin1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080

The table below shows human diseases predicted to be associated to Emilin1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Reduced coagulation factor V activity, Prolonged part... OMIM:227400
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time, Reduced prothrombin consumption OMIM:272650
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Reduced von Willebrand factor activity, Reduced facto... OMIM:277480
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Factor X Deficiency
Prolonged partial thromboplastin time, Reduced factor X activity, Epistaxis, Prolonged bleeding a... OMIM:227600
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Prolonged partial thromboplastin time, Epis... OMIM:613679
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impa... OMIM:187800
Congenital Factor Ii Deficiency
Abnormal bleeding, Prolonged partial thromboplastin time, Epistaxis, Joint hemorrhage, Prolonged ... ORPHA:325
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Reduced factor IX activity, Reduced factor X activity, Epistaxis, Prolonged pr... OMIM:610842
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... OMIM:231200
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Reduced von Willebrand factor activity, Impaired thro... OMIM:139090
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Reduced factor IX activity, Prolonged partial thromboplastin time, Epistaxis, ... OMIM:277450
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:155100
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Reduced coagulation factor V activity, Reduced factor VIII activity,... ORPHA:35909
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Petechiae, Epistaxis, Re... OMIM:187900
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Reduced factor VIII activity, Epistaxis, Pr... OMIM:193400
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Von Willebrand Disease
Abnormality of coagulation, Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Reduced factor X activity, Prolo... ORPHA:328
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Acquired Purpura Fulminans
Hypofibrinogenemia, Prolonged partial thromboplastin time, Reduced protein C activity, Reduced pr... ORPHA:49566
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... OMIM:601399
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... OMIM:153670
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Reduced von Willebrand factor activity, Reduced factor VIII activity... ORPHA:99147
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Abnormal umbilical stump bleeding, Gingival bleedi... ORPHA:335
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hema... ORPHA:274
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Immunodeficiency 81
Reduced natural killer cell activity, Reduced antigen-specific T cell proliferation, Impaired neu... OMIM:619374
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time, Prolonged partial thromboplastin time OMIM:214950
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Relapsing Fever
Abnormal bleeding, Epistaxis, Hyperfibrinogenemia, Prolonged prothrombin time, Thrombocytopenia ORPHA:91547
S-Adenosylhomocysteine Hydrolase Deficiency
Reduced antithrombin III activity, Hypofibrinogenemia, Elevated coagulation factor V activity, Pr... ORPHA:88618
Hemophilia B
Prolonged bleeding time, Reduced factor IX activity, Prolonged partial thromboplastin time, Spont... ORPHA:98879
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume OMIM:185050
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Prolonged partial thromboplastin time, Abnormality of the coagulation... ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Sialuria
Prolonged prothrombin time, Prolonged partial thromboplastin time ORPHA:3166
Hepatoportal Sclerosis
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia ORPHA:64743
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Monosomy 13Q34
Prolonged partial thromboplastin time, Epistaxis, Abnormality of the coagulation cascade, Hematoc... ORPHA:96168
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Prolonged partial thromboplastin time ORPHA:367
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Petechiae, Epistaxis, Reduced platelet alpha granules, Increased mean pl... OMIM:314050
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Alg12-Cdg
Prolonged partial thromboplastin time, Reduced factor XI activity, Reduced antithrombin antigen, ... ORPHA:79324
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Prolonged prothrombin time, Thrombocytopenia ORPHA:99901
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl... ORPHA:238459
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypofibrinogenemia, Prolonged prothrombin time, Prolonged partial thromboplastin time, Thrombocyt... OMIM:267700
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Celiac Disease, Susceptibility To, 1
Prolonged partial thromboplastin time, Abnormality of the coagulation cascade, Prolonged prothrom... OMIM:212750
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Congenital Disorder Of Glycosylation, Type Ia
Reduced antithrombin III activity, Prolonged partial thromboplastin time, Reduced factor XI activ... OMIM:212065
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Prolonged prothrombin time, Thrombocytopenia OMIM:616271
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypofibrinogenemia, Prolonged prothrombin time, Thrombocytopenia, Reduced natural killer cell act... OMIM:603553
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Hellp Syndrome
Hypofibrinogenemia, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage, Thrombo... ORPHA:244242
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Prolonged partial thromboplastin time, Thrombocytopenia OMIM:617941
Congenital Disorder Of Glycosylation, Type It
Reduced antithrombin III activity, Prolonged prothrombin time, Prolonged partial thromboplastin time OMIM:614921
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Kasabach-Merritt Syndrome
Hypofibrinogenemia, Thrombocytopenia, Prolonged prothrombin time, Petechiae, Purpura ORPHA:2330
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Congenital Disorder Of Glycosylation, Type Iiw
Reduced antithrombin III activity, Reduced coagulation factor V activity, Hypofibrinogenemia, Pro... OMIM:619525
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Sitosterolemia 1
Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Thrombocytopenia OMIM:210250
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Prolonged prothrombin time ORPHA:20
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Acute Liver Failure
Abnormal bleeding, Reduced coagulation factor V activity, Increased factor VIII activity, Gastroi... ORPHA:90062
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Abnormality of coagulation ORPHA:1059
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Mgat2-Cdg
Abnormal bleeding, Reduced factor XI activity, Abnormality of the common coagulation pathway, Dec... ORPHA:79329
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... OMIM:608233
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Abnormality of coagulation ORPHA:309854
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hypofibrinogenemia, Prolonged prothrombin time, Reduced factor XI activity, Reduced protein C act... ORPHA:404454
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytope... OMIM:603585
Tyrosinemia, Type I
Melena, Prolonged prothrombin time, Prolonged partial thromboplastin time, Gastrointestinal hemor... OMIM:276700
Marburg Hemorrhagic Fever
Abnormal bleeding, Prolonged partial thromboplastin time, Petechiae, Excessive bleeding after a v... ORPHA:99826
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Yellow Fever
Abnormal bleeding, Reduced coagulation factor V activity, Hypofibrinogenemia, Excessive bleeding ... ORPHA:99829
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating... ORPHA:247598
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Prolonged partial thromboplastin time, Epistaxis, Autoimmune thrombo... ORPHA:324636
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1166
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... ORPHA:99050
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Polyclonal elevation of IgM ORPHA:171
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter... ORPHA:860
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology ORPHA:3318
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Hypercoagulability, Intracranial hemorrhage, Bone marrow hypocellularity... ORPHA:3226
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Petechiae, Epistaxis, Hematemesis, ... ORPHA:906
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Diabetic Embryopathy
Abnormality of the pulmonary artery, Tetralogy of Fallot, Transposition of the great arteries, Ab... ORPHA:1926
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Descending aorta hypoplasia, ... ORPHA:185
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Hypercoagulability ORPHA:90308
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Chédiak-Higashi Syndrome
Abnormal bleeding, Hypofibrinogenemia, Epistaxis, Increased proportion of CD25+ mast cells, Gingi... ORPHA:167
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Holt-Oram Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return ORPHA:392
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Leukocyte Adhesion Deficiency
Abnormal bleeding, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired ne... ORPHA:2968
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... OMIM:208530
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aortic morphology, Transposition of... ORPHA:251071
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Meacham Syndrome
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ... OMIM:608978
Noonan Syndrome
Abnormal bleeding, Abnormality of coagulation, Abnormal platelet function ORPHA:648
Cardiac Diverticulum
Abnormal coronary artery origin, Patent ductus arteriosus, Pulmonary artery stenosis, Partial ano... ORPHA:1686
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Petechiae, Epistaxis, Reduced natural killer cell activity, Increased ci... OMIM:301000
Meacham Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a... ORPHA:3097
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta OMIM:600460
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology ORPHA:2059
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura ORPHA:809
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dextrotransposition of the g... OMIM:270100
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta ORPHA:2396
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Abnormal aortic morphology ORPHA:991
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Coarctation of aorta ORPHA:1052
Holoprosencephaly
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:2162
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal aortic morphology ORPHA:1507
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
Mucopolysaccharidosis Type 2, Severe Form
Abnormal aortic morphology, Peripheral arterial stenosis ORPHA:217085
Mucopolysaccharidosis Type 2
Abnormal aortic morphology, Peripheral arterial stenosis ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal aortic morphology, Peripheral arterial stenosis ORPHA:217093
Igg4-Related Kidney Disease
Abnormal aortic morphology, Arteritis ORPHA:449395
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280

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 Emilin1

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 Emilin1.

No publications found that use IMPC mice or data for Emilin1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Emilin1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Emilin1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter