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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Factor V Deficiency
Prolonged partial thromboplastin time, Bruising susceptibility, Abnormal bleeding, Menorrhagia, R... OMIM:227400
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Tatsumi Factor Deficiency
Abnormal bleeding, Reduced prothrombin consumption, Prolonged bleeding time OMIM:272650
Thrombocythemia 1
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:187950
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... OMIM:609821
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... OMIM:614009
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... OMIM:173470
Von Willebrand Disease, Type 3
Reduced factor VIII activity, Joint hemorrhage, Persistent bleeding after trauma, Bruising suscep... OMIM:277480
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Factor X Deficiency
Joint hemorrhage, Reduced factor X activity, Intracranial hemorrhage, Menorrhagia, Gingival bleed... OMIM:227600
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... OMIM:187800
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Reduced factor VII activity, Reduced factor IX activity, Reduced factor X activity, Abnormal blee... OMIM:610842
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Menor... OMIM:139090
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Reduced factor VII activity, Reduced protein C activity, Reduced factor IX acti... OMIM:277450
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Me... OMIM:155100
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time OMIM:608404
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... OMIM:601709
Combined Deficiency Of Factor V And Factor Viii
Reduced factor VIII activity, Joint hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:35909
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Von Willebrand Disease, Type 1
Reduced factor VIII activity, Joint hemorrhage, Persistent bleeding after trauma, Bruising suscep... OMIM:193400
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Reduced prothrombin consumption, Petechiae, Impai... OMIM:187900
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function 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
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Red... ORPHA:328
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Acquired Purpura Fulminans
Reduced protein C activity, Prolonged partial thromboplastin time, Reduced protein S activity, Ma... ORPHA:49566
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Bruising susceptibility, Impaired platelet aggregation, Abnormal ... OMIM:601399
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:617443
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... OMIM:614072
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time OMIM:614158
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility OMIM:614076
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Reduced factor VIII activity, Impaired ristocetin cofactor assay activi... ORPHA:99147
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... OMIM:614074
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... OMIM:132900
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... ORPHA:274
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... ORPHA:3400
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Petechiae, Impaired neutrophil chemotaxis, Reduce... OMIM:619374
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... OMIM:614075
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
S-Adenosylhomocysteine Hydrolase Deficiency
Reduced factor VII activity, Reduced antithrombin III activity, Elevated coagulation factor V act... ORPHA:88618
Hemophilia B
Joint hemorrhage, Reduced factor IX activity, Delayed onset bleeding, Prolonged bleeding after de... ORPHA:98879
Relapsing Fever
Abnormal bleeding, Hyperfibrinogenemia, Thrombocytopenia, Epistaxis, Prolonged prothrombin time ORPHA:91547
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... OMIM:619172
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... OMIM:614077
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Tetralogy of Fallot OMIM:615779
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the coagulation cascade, Prolonged partial thromboplastin time, Prolonged prothrom... ORPHA:79303
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Thrombocytopenia, Prolonged prothrombin time ORPHA:64743
Monosomy 13Q34
Hematochezia, Abnormality of the coagulation cascade, Prolonged partial thromboplastin time, Epis... ORPHA:96168
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time OMIM:613070
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Sialuria
Prolonged partial thromboplastin time, Prolonged prothrombin time ORPHA:3166
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Abnormal platelet morphology, Thrombocytopenia OMIM:300835
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged partial thromboplastin time, Prolonged prothrombin time ORPHA:367
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Alg12-Cdg
Reduced protein C activity, Partial absence of specific antibody response to Haemophilus influenz... ORPHA:79324
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... OMIM:618780
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Prolonged prothrombin time, Cerebellar hemorrhage ORPHA:99901
Tricuspid Atresia
Transposition of the great arteries, Persistent left superior vena cava, Coarctation of aorta, Pu... ORPHA:1209
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Slc35A1-Cdg
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Thrombocytopen... ORPHA:238459
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Thrombocytopenia, Epistaxis, Prolonged bleeding time OMIM:314050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged partial thromboplastin time, Thrombocytopenia, Hypofibrinogenemia, Prolonged prothrombi... OMIM:267700
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Reduced factor XI activity, Decreased circulating IgG level, Red... OMIM:212065
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Thrombocytosis, Abnormality of the coagulation cascade, Prolonge... OMIM:212750
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time OMIM:616271
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Transposition of the great arteries, Patent ductus arteriosus, Coarctation of aorta, Truncus arte... OMIM:612474
Wolfram Syndrome 2
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... OMIM:604928
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Transposition of the gre... OMIM:217095
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Thrombocytopenia, Hypofibrinogenemia, Prolonged prothrombin... OMIM:603553
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Thrombocytopenia, Hypofibrinogenemia, Prolonged prothro... ORPHA:244242
Fechtner syndrome
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Giant platelets, Thrombocytopenia, Prolo... OMIM:153640
Shwachman-Diamond Syndrome 2
Prolonged partial thromboplastin time, Thrombocytopenia, Prolonged prothrombin time OMIM:617941
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Congenital Disorder Of Glycosylation, Type It
Prolonged partial thromboplastin time, Prolonged prothrombin time, Reduced antithrombin III activity OMIM:614921
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
Kasabach-Merritt Syndrome
Petechiae, Purpura, Thrombocytopenia, Hypofibrinogenemia, Prolonged prothrombin time ORPHA:2330
Congenital Disorder Of Glycosylation, Type Iiw
Reduced factor VII activity, Prolonged partial thromboplastin time, Reduced factor IX activity, R... OMIM:619525
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:613854
Sitosterolemia 1
Abnormal bleeding, Impaired platelet aggregation, Giant platelets, Thrombocytopenia OMIM:210250
Acute Liver Failure
Reduced factor VII activity, Bruising susceptibility, Reduced factor X activity, Abnormal bleedin... ORPHA:90062
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Prolonged prothrombin time ORPHA:20
Blue Rubber Bleb Nevus
Abnormality of coagulation, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Myh9-Related Disease
Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet volume... ORPHA:182050
Mgat2-Cdg
Reduced factor XI activity, Decreased circulating IgG level, Abnormal bleeding, Impaired platelet... ORPHA:79329
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Reduced natural killer cell activity, Impaired ADP-induced plat... OMIM:608233
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of coagulation, Prolonged prothrombin time ORPHA:309854
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot ORPHA:261243
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Reduced protein C activity, Reduced factor XI activity, Hypofibrinogenemia, Prolonged prothrombin... ORPHA:404454
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Macrothrombocytopenia, Thrombocytopenia, Decreased... OMIM:603585
Marburg Hemorrhagic Fever
Increased circulating antibody level, Prolonged partial thromboplastin time, Petechiae, Excessive... ORPHA:99826
Yellow Fever
Hematemesis, Excessive bleeding after a venipuncture, Abnormal bleeding, Increased circulating Ig... ORPHA:99829
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Tyrosinemia, Type I
Melena, Gastrointestinal hemorrhage, Prolonged partial thromboplastin time, Prolonged prothrombin... OMIM:276700
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Aortic dissection, Mucoid extracellular matrix accumulation OMIM:130090
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 common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... ORPHA:324636
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Decreased circulating antibody level, Prolonged p... ORPHA:247598
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal descending aorta morphology, Anomalous origin of left pulmonary artery from ascending ao... ORPHA:99050
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Prolonged prothrombin time ORPHA:171
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Descending thoracic aorta aneury... ORPHA:91387
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Congenitally Uncorrected Transposition Of The Great Arteries
Anomalous pulmonary venous return, Dextrotransposition of the great arteries, Abnormal coronary a... ORPHA:860
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time ORPHA:3318
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Congenitally corrected transposition of the great arteries with ve... OMIM:617205
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Intracranial hemorrhage, Hypercoagulability, Bone marrow hypocellularity... ORPHA:3226
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Intracrania... ORPHA:906
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Diabetic Embryopathy
Abnormality of the pulmonary artery, Transposition of the great arteries, Tetralogy of Fallot, Ab... ORPHA:1926
Phace Association
Anomalous branches of internal carotid artery, Coarctation of aorta, Patent ductus arteriosus, Va... OMIM:606519
Klippel-Trénaunay Syndrome
Hypercoagulability, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding time ORPHA:90308
Scimitar Syndrome
Double outlet right ventricle, Anomalous pulmonary venous return, Left superior vena cava drainin... ORPHA:185
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Single coronary artery origin, Double aortic arch, Right aortic ar... OMIM:619702
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Anomalous pulmonary venous return, Coarctation of aorta, Tetralogy... ORPHA:1330
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Abnormal bleeding, Impaired neutrophil chemotaxis, Thromboc... ORPHA:2968
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot ORPHA:261183
Chédiak-Higashi Syndrome
Bruising susceptibility, Abnormal bleeding, Abnormal platelet function, Increased proportion of C... ORPHA:167
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Ascending aortic dissection, Coarctation of a... ORPHA:402075
Holt-Oram Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:392
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Hematochezia, Gingival bleeding, Ecchymosis, Epistaxis, Prolonged bleedi... OMIM:203300
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Right Atrial Isomerism
Tetralogy of Fallot, Pulmonary artery atresia, Total anomalous pulmonary venous return, Transposi... OMIM:208530
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Transposition of the great arteries, Pulmonary art... ORPHA:251071
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Stroke, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Aortic dissecti... OMIM:175050
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Scimitar anomaly, Coarctation of aorta, Tetr... OMIM:608978
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
Noonan Syndrome
Abnormality of coagulation, Abnormal bleeding, Abnormal platelet function ORPHA:648
Cardiac Diverticulum
Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery hypoplasia... ORPHA:1686
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Melena, Petechiae, Increased circulating I... OMIM:301000
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Meacham Syndrome
Anomalous pulmonary venous return, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arter... ORPHA:3097
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Coarctation of aorta, Tetralogy of Fallot, Absent pulmonary artery OMIM:600460
Meester-Loeys Syndrome
Dilatation of the cerebral artery, Pulmonary artery aneurysm, Aortic dissection OMIM:300989
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:2059
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time ORPHA:809
Alport Syndrome
Renal glomerular foam cells, Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Loeys-Dietz Syndrome
Arterial dissection, Arterial tortuosity, Aortic dissection, Patent ductus arteriosus, Vascular d... ORPHA:60030
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Dextrotransposition of the great arteries, Coarctation of aorta, P... OMIM:270100
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta ORPHA:2396
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Abnormal aortic morphology ORPHA:991
Mosaic Variegated Aneuploidy Syndrome
Coarctation of aorta, Abnormal aortic morphology ORPHA:1052
Holoprosencephaly
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:2162
Fanconi Anemia
Arteriovenous malformation, Abnormal carotid artery morphology, Tetralogy of Fallot, Patent ductu... ORPHA:84
Autosomal Recessive Robinow Syndrome
Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1507
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Mixed total a... ORPHA:99125
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Abnormal aortic morphology ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Peripheral arterial stenosis, Abnormal aortic morphology ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Peripheral arterial stenosis, Abnormal aortic morphology ORPHA:217093
Igg4-Related Kidney Disease
Arteritis, Abnormal aortic morphology ORPHA:449395
Classical Ehlers-Danlos Syndrome
Ecchymosis, Bruising susceptibility, Prolonged bleeding time 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

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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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