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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Prolonged partial thromboplastin time, Prolonged w... OMIM:227400
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding, Reduced prothrombin consumption OMIM:272650
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat... OMIM:187950
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Excessiv... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Ecchymosis,... OMIM:614201
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b... OMIM:609821
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Von Willebrand Disease, Type 3
Reduced factor VIII activity, Abnormal bleeding, Impaired platelet aggregation, Prolonged bleedin... OMIM:277480
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Factor X Deficiency
Prolonged prothrombin time, Prolonged partial thromboplastin time, Gingival bleeding, Menorrhagia... OMIM:227600
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Petechiae, Impaired platelet aggregati... OMIM:187800
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Prolonged partial thromboplastin time, G... OMIM:613679
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Reduced factor IX activity, Reduced factor VII act... OMIM:610842
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Giant platelets, Gingival bleeding, Meno... OMIM:231200
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Reduced quantity of Von Willeb... OMIM:139090
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru... OMIM:605735
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Reduced protein C activity, Prolonged partial thro... OMIM:277450
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impaired A... OMIM:155100
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding, Giant platelets OMIM:608404
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Reduced factor VIII activity, Gastrointestinal hemorrhage, Prolonged ... ORPHA:35909
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:617443
Von Willebrand Disease, Type 1
Reduced factor VIII activity, Gastrointestinal hemorrhage, Reduced quantity of Von Willebrand fac... OMIM:193400
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:613780
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleedin... OMIM:614076
Hemophilia B
Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Prolonged partial t... OMIM:306900
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a... OMIM:615436
Acquired Purpura Fulminans
Prolonged prothrombin time, Reduced protein C activity, Prolonged partial thromboplastin time, Ma... ORPHA:49566
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Abnormal dense granule content, Impaired platelet aggregation, Petechiae, Abnormal plate... OMIM:601399
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Increased mean platelet ... OMIM:153670
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee... OMIM:614072
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Reduced factor VIII activity, Gastrointestinal hemorrhage, Melena, Me... ORPHA:99147
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Abnormal u... ORPHA:335
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Epistaxis... OMIM:614074
Von Willebrand Disease
Reduced factor VIII activity, Gastrointestinal hemorrhage, Muscle hemorrhage, Prolonged partial t... ORPHA:903
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-vent... ORPHA:3400
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Immunodeficiency 81
Petechiae, Reduced antigen-specific T cell proliferation, Impaired collagen-induced platelet aggr... OMIM:619374
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Hematochezia, Prolonged partial thromboplastin time OMIM:214950
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Hyperfibrinogenemia, Epistaxis, Thrombocytopenia ORPHA:91547
Hemophilia B
Cephalohematoma, Prolonged partial thromboplastin time, Spontaneous, recurrent epistaxis, Delayed... ORPHA:98879
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Elevated coagulation factor V activity, Reduced antithrombin III acti... ORPHA:88618
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi... OMIM:619172
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding OMIM:185050
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Tetralogy of Fallot, Aortopulmon... OMIM:618780
Sialuria
Prolonged prothrombin time, Prolonged partial thromboplastin time ORPHA:3166
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Abnormality of the coagulation cascade, Prolonged partial thromboplas... ORPHA:79303
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Hepatoportal Sclerosis
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia ORPHA:64743
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Monosomy 13Q34
Prolonged prothrombin time, Prolonged partial thromboplastin time, Abnormality of the coagulation... ORPHA:96168
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Tetralogy of Fallot OMIM:615779
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Prolonged partial thromboplastin time ORPHA:367
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reduced platelet alpha granules, Increased mean platelet volume, Epistaxis, Thrombocyt... OMIM:314050
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Alg12-Cdg
Prolonged prothrombin time, Reduced factor XI activity, Reduced antithrombin antigen, Partial abs... ORPHA:79324
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Cerebellar hemorrhage, Thrombocytopenia ORPHA:99901
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Prolonged bleed... ORPHA:238459
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Thrombocytopenia, Hypofibrinogenemia, Prolonged partial thromboplasti... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Hematochezia OMIM:613812
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time, Prolonged partial thromboplastin time, Abnormality of the coagulation... OMIM:212750
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr... ORPHA:231160
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Reduced factor XI activity, Prolonged partial thromboplastin time, Re... OMIM:212065
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Abnormal bleeding, Thrombocytopenia OMIM:616271
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Thrombocytopenia, Reduced natural killer cell activity, Hypofibrinoge... OMIM:603553
Hermansky-Pudlak Syndrome 8
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Gingival bleeding, Menor... OMIM:614077
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Hellp Syndrome
Prolonged prothrombin time, Internal hemorrhage, Thrombocytopenia, Cerebral hemorrhage, Hypofibri... ORPHA:244242
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Thrombocytopenia, Prolonged partial thromboplastin time OMIM:617941
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Reduced antithrombin III activity, Prolonged partial thromboplastin time OMIM:614921
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Purpura, Petechiae, Thrombocytopenia, Hypofibrinogenemia ORPHA:2330
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
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus OMIM:601612
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage OMIM:619055
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Reduced factor XI activity, Prolonged partial thromboplastin time, Re... OMIM:619525
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Aortic tortuosity, Thoracic aortic aneurysm OMIM:616166
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Giant platelets, Thrombocytopenia OMIM:210250
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Thrombocytosis ORPHA:20
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Myh9-Related Disease
Giant platelets, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Menorrhagia, B... ORPHA:182050
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Abnormality of the co... ORPHA:90062
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Blue Rubber Bleb Nevus
Prolonged bleeding time, Abnormality of coagulation, Intestinal bleeding ORPHA:1059
Mgat2-Cdg
Reduced factor XI activity, Abnormal bleeding, Impaired platelet aggregation, Decreased circulati... ORPHA:79329
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Aortic tortuosity, Coarctation of aorta, Ascending a... OMIM:614823
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Enla... OMIM:608233
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time, Reduced factor XI activity, Hypofibrinogenemia, Reduced protein C act... ORPHA:404454
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Thrombocytopenia, Macrothrombocytope... OMIM:603585
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Abnormality of coagulation ORPHA:309854
16P13.11 Microduplication Syndrome
Coarctation of aorta, Transposition of the great arteries, Tetralogy of Fallot ORPHA:261243
Tyrosinemia, Type I
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Prolonged partial thromboplastin... OMIM:276700
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Increased circulating antibody level, Prolonged pa... ORPHA:99826
Abetalipoproteinemia
Prolonged prothrombin time, Abnormal bleeding ORPHA:14
Yellow Fever
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Internal hemorrhage, Increased circul... ORPHA:99829
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating antibody level, Ab... ORPHA:247598
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Impaired platelet adhesion, Prolonged partial thromb... ORPHA:324636
Essential Thrombocythemia
Abnormal bleeding, Abnormality of thrombocytes, Abnormal platelet morphology, Bruising susceptibi... ORPHA:3318
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort... ORPHA:449400
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1166
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Polyclonal elevation of IgM ORPHA:171
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Des... ORPHA:91387
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal aortic arch morphology, Hypoplastic aortic arch, Interrupted aortic arch, Levotransposit... ORPHA:860
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Right ... OMIM:617205
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Bruising susceptibility, Intracranial hemorrhage, ... ORPHA:3226
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology ORPHA:2516
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Abnormal platelet function, Gingival blee... ORPHA:906
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Diabetic Embryopathy
Abnormality of the pulmonary artery, Transposition of the great arteries, Abnormal aortic morphol... ORPHA:1926
Phace Association
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... OMIM:606519
Scimitar Syndrome
Partial anomalous pulmonary venous return, Descending aorta hypoplasia, Anomalous origin of left ... ORPHA:185
Klippel-Trénaunay Syndrome
Hypercoagulability, Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Heterotaxy, Visceral, 12, Autosomal
Left superior vena cava draining to coronary sinus, Partial anomalous pulmonary venous return, Hy... OMIM:619702
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi... OMIM:203300
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Chédiak-Higashi Syndrome
Abnormal bleeding, Increased proportion of CD25+ mast cells, Abnormal platelet function, Gingival... ORPHA:167
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Coarctation of aorta, Aortic arch aneurysm, Ascending aortic dissec... ORPHA:402075
Holt-Oram Syndrome
Anomalous pulmonary venous return, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:392
Leukocyte Adhesion Deficiency
Abnormal bleeding, Impaired platelet aggregation, Abnormality of neutrophil physiology, Bone marr... ORPHA:2968
Loeys-Dietz Syndrome 6
Arterial tortuosity, Vertebral artery aneurysm, Transient ischemic attack, Aortic tortuosity, Ver... OMIM:619656
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Cerebral arteriov... OMIM:175050
Right Atrial Isomerism
Transposition of the great arteries, Pulmonary artery atresia, Total anomalous pulmonary venous r... OMIM:208530
8P23.1 Microdeletion Syndrome
Transposition of the great arteries, Abnormal aortic morphology, Pulmonary artery stenosis, Tetra... ORPHA:251071
Meacham Syndrome
Transposition of the great arteries, Partial anomalous pulmonary venous return, Cardiac total ano... OMIM:608978
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Cardiac Diverticulum
Abnormal coronary artery origin, Transposition of the great arteries, Partial anomalous pulmonary... ORPHA:1686
Wiskott-Aldrich Syndrome
Hematemesis, Purpura, Decreased circulating total IgM, Abnormal delayed hypersensitivity skin tes... OMIM:301000
Noonan Syndrome
Bruising susceptibility, Abnormal bleeding, Abnormal platelet function, Abnormality of coagulation ORPHA:648
Meacham Syndrome
Transposition of the great arteries, Anomalous pulmonary venous return, Coarctation of aorta, Tet... ORPHA:3097
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus OMIM:600460
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Mixed Connective Tissue Disease
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura ORPHA:809
Fryns Syndrome
Abnormal aortic morphology, Abnormal aortic arch morphology, Tetralogy of Fallot ORPHA:2059
Heterotaxy, Visceral, 5, Autosomal
Partial anomalous pulmonary venous return, Ascending tubular aorta aneurysm, Pulmonary artery atr... OMIM:270100
Alport Syndrome
Abnormal aortic morphology, Renal glomerular foam cells, Aortic aneurysm ORPHA:63
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Coarctation of aorta, Abnormal aortic morphology ORPHA:2396
Pagod Syndrome
Abnormality of the pulmonary artery, Abnormal aortic morphology, Pulmonary artery hypoplasia ORPHA:991
Mosaic Variegated Aneuploidy Syndrome
Coarctation of aorta, Abnormal aortic morphology ORPHA:1052
Holoprosencephaly
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:2162
Autosomal Recessive Robinow Syndrome
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Fanconi Anemia
Abnormal carotid artery morphology, Arteriovenous malformation, Abnormal aortic morphology, Tetra... 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

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