Gene Summary

Name:
elastin microfibril interfacer 2
Synonyms:
FOAP-10,  basilin

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Emilin2em1(IMPC)J HOM Early adult 1.77×10-06
abnormal vocalization Emilin2em1(IMPC)J HOM Early adult 1.69×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Emilin2 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 Emilin2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Thrombocythemia 1
Thrombocytosis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet agg... OMIM:187950
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Dec... OMIM:619267
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Prolonged bleeding time, Impa... OMIM:273800
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Thr... OMIM:187800
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... OMIM:601399
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Thrombocytopen... OMIM:139090
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Immunodeficiency 81
Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Impaired collagen-... OMIM:619374
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Prolonged bleeding time, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Impaired platelet aggregation, Abnormal platelet morphology OMIM:300835
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Sebastian syndrome
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:605249
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Sitosterolemia 1
Giant platelets, Impaired platelet aggregation OMIM:210250
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia OMIM:188025
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Reduced natural killer cell activity, Absent platelet ... OMIM:608233
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume OMIM:185050
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:155100
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregation ORPHA:79329
Slc35A1-Cdg
Giant platelets, Prolonged bleeding time, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Thrombocytopenia OMIM:314050
Fechtner syndrome
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:153640
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Prolonged bleeding time, Increased mean platelet vo... ORPHA:182050
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Prolonged bleeding time, Abnormality of thrombocytes, Thrombocytopenia OMIM:187900
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Blue Rubber Bleb Nevus
Prolonged bleeding time ORPHA:1059
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology ORPHA:3318
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Thrombocytopenia OMIM:614074
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Leukocyte Adhesion Deficiency
Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Impaired platelet aggregation, Throm... ORPHA:2968
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion ORPHA:324636
Ch├ędiak-Higashi Syndrome
Abnormal platelet function, Abnormality of neutrophil physiology, Thrombocytopenia, Increased pro... ORPHA:167
Wiskott-Aldrich Syndrome
Abnormal platelet morphology, Abnormal platelet function, Thrombocytopenia, Prolonged bleeding time ORPHA:906
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Noonan Syndrome
Abnormal platelet function ORPHA:648
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Thrombocytopenia, Abnormal dela... OMIM:600903

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 Emilin2

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 Emilin2.

No publications found that use IMPC mice or data for Emilin2.

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MGI Allele Allele Type Produced
Emilin2em1(IMPC)J Exon Deletion Mice
Emilin2tm112396(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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