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Gene: Emilin1 MGI:1926189

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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 adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged whole-blood clotting time, Reduc... OMIM:227400
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Tatsumi Factor Deficiency
Reduced prothrombin consumption, Abnormal bleeding, Prolonged bleeding time OMIM:272650
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Von Willebrand Disease, Type 3
Epistaxis, Reduced von Willebrand factor activity, Abnormal bleeding, Bruising susceptibility, Re... OMIM:277480
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Reduced factor VII activity, Prolonged prothrombin time, Reduced fa... OMIM:610842
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... OMIM:231200
Gray Platelet Syndrome
Epistaxis, Reduced von Willebrand factor activity, Abnormal bleeding, Bruising susceptibility, Ab... OMIM:139090
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Reduced protein C activity, Reduced factor... OMIM:277450
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Impaired ADP-induced plat... OMIM:155100
Platelet Glycoprotein Iv Deficiency
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal bleeding, Thrombocytopenia ORPHA:231393
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged whole-blood clotting t... OMIM:306900
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Acquired Purpura Fulminans
Macular purpura, Hypofibrinogenemia, Reduced protein S activity, Internal hemorrhage, Prolonged p... ORPHA:49566
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Impaired arac... OMIM:601399
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... ORPHA:274
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Acquired Von Willebrand Syndrome
Epistaxis, Gastrointestinal hemorrhage, Reduced von Willebrand factor activity, Bruising suscepti... ORPHA:99147
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Thrombocytopenia, ... OMIM:614074
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Reduced von Willebrand factor activity, Abnormality of th... ORPHA:903
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Immunodeficiency 81
Petechiae, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... OMIM:619374
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... 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
Epistaxis, Hyperfibrinogenemia, Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time ORPHA:91547
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
S-Adenosylhomocysteine Hydrolase Deficiency
Reduced antithrombin III activity, Reduced factor VII activity, Hypofibrinogenemia, Elevated coag... ORPHA:88618
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Storage Pool Platelet Disease
Decreased mean platelet volume, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... 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
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Thrombocytopenia, Prolonged prothrombin time ORPHA:64743
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time OMIM:613070
Monosomy 13Q34
Hematochezia, Epistaxis, Prolonged prothrombin time, Prolonged partial thromboplastin time, Abnor... ORPHA:96168
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Abnormal bl... OMIM:604928
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
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Prolonged partial thromboplastin time ORPHA:367
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Reduced platelet alpha granules, Petechiae, Thrombocytopenia,... OMIM:314050
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Alg12-Cdg
Abnormal circulating IgM level, Reduced antithrombin antigen, Complete or near-complete absence o... ORPHA:79324
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Prolonged prothrombin time ORPHA:99901
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Slc35A1-Cdg
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Thrombocytopenia, Hypofibrinogenemia, Prolonged partial thromboplasti... OMIM:267700
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Thrombocytosis, Prolonged prothrombin time, Prolonged partial th... OMIM:212750
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Reduced antithrombin III activity, Decreased circulating IgA lev... OMIM:212065
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time OMIM:616271
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Thrombocytopenia, Hypofibrinogenemia, Prolonged prothrombin... OMIM:603553
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Hellp Syndrome
Cerebral hemorrhage, Hypofibrinogenemia, Internal hemorrhage, Thrombocytopenia, Prolonged prothro... ORPHA:244242
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Thrombocytopenia, Prolonged partial thromboplastin time OMIM:617941
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Reduced antithrombin III activity, Prolonged partial thromboplastin time OMIM:614921
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Kasabach-Merritt Phenomenon
Petechiae, Hypofibrinogenemia, Thrombocytopenia, Prolonged prothrombin time, Purpura 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
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Congenital Disorder Of Glycosylation, Type Iiw
Reduced factor XIII activity, Reduced antithrombin III activity, Reduced factor VII activity, Red... OMIM:619525
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Sitosterolemia 1
Giant platelets, Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation OMIM:210250
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Thrombocytosis ORPHA:20
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital thrombocyt... ORPHA:182050
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Reduced factor VII activ... ORPHA:90062
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time, Abnormality of coagulation ORPHA:1059
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Abnormality of the common coagulation pathway... ORPHA:79329
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a... OMIM:614823
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... OMIM:608233
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Reduced protein C activity, Hypofibrinogenemia, Prolonged prothrombin time, Reduced factor XI act... ORPHA:404454
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopen... OMIM:603585
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of coagulation, Prolonged prothrombin time ORPHA:309854
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Tyrosinemia, Type I
Prolonged prothrombin time, Gastrointestinal hemorrhage, Prolonged partial thromboplastin time, M... OMIM:276700
Marburg Hemorrhagic Fever
Abnormal bleeding, Bruising susceptibility, Excessive bleeding after a venipuncture, Petechiae, I... ORPHA:99826
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Yellow Fever
Abnormal bleeding, Reduced coagulation factor V activity, Excessive bleeding after a venipuncture... ORPHA:99829
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Decreased circulating antibody level, Abnormal bleeding, Prolonged p... ORPHA:247598
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Intr... ORPHA:324636
Essential Thrombocythemia
Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Abnormal platelet morpho... ORPHA:3318
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:1166
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Prolonged prothrombin time ORPHA:171
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Tetralogy... ORPHA:99050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... 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
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De... 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
Aortopulmonary collateral arteries, Arteria lusoria, Truncus arteriosus, Transposition of the gre... OMIM:620294
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Bruising susceptibility, Hypercoagulability, Thrombocytopenia, Intra... ORPHA:3226
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Wiskott-Aldrich Syndrome
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hematomas, Recur... ORPHA:906
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Diabetic Embryopathy
Tetralogy of Fallot, Transposition of the great arteries, Abnormal aortic morphology, Abnormality... ORPHA:1926
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Anomalous origin of left coronary arter... ORPHA:185
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hypercoagulability, Internal hemorrhage ORPHA:90308
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleedi... OMIM:203300
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Bruising s... ORPHA:167
Familial Bicuspid Aortic Valve
Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec... ORPHA:402075
Holt-Oram Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:392
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormal bleeding, Thrombocyto... ORPHA:2968
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Transient isch... OMIM:619656
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Pulmonary arteriovenous malformation, Stroke, Hepatic arteriovenous malformati... OMIM:175050
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Tetralogy of Fallot,... OMIM:208530
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery stenosis, Transposition of the ... ORPHA:251071
Meacham Syndrome
Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Persistent left superior vena cava, Coa... OMIM:608978
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery st... ORPHA:1686
Wiskott-Aldrich Syndrome
Gingival bleeding, Epistaxis, Decreased mean platelet volume, Decreased specific anti-polysacchar... OMIM:301000
Noonan Syndrome
Abnormal bleeding, Bruising susceptibility, Abnormal platelet function, Abnormality of coagulation ORPHA:648
Meacham Syndrome
Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Transposition of the great arterie... ORPHA:3097
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
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
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time ORPHA:809
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology ORPHA:2059
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Coarctation o... OMIM:270100
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Abnormal aortic morphology 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
Pulmonary artery hypoplasia, Abnormal aortic morphology, Abnormality of the pulmonary artery ORPHA:991
Mosaic Variegated Aneuploidy Syndrome
Coarctation of aorta, Abnormal aortic morphology 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
Arteriovenous malformation, Tetralogy of Fallot, Abnormal aortic morphology, Abnormal carotid art... ORPHA:84
Mucopolysaccharidosis Type 2, Severe Form
Peripheral arterial stenosis, Abnormal aortic morphology ORPHA:217085
Mucopolysaccharidosis Type 2
Peripheral arterial stenosis, Abnormal aortic morphology ORPHA:580
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
Bruising susceptibility, Prolonged bleeding time, Ecchymosis 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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