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
abnormal vocalization Emilin2em1(IMPC)J HOM Early adult 1.69×10-06
decreased grip strength Emilin2em1(IMPC)J HOM Early adult 2.68×10-06

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
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc... OMIM:619271
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:619267
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... OMIM:187800
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopen... OMIM:155100
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thrombocytopen... OMIM:139090
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content, Impaired ... OMIM:601399
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
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
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Macrothrombocytopenia, Impaired collagen-induced pla... OMIM:187900
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Impaired collagen-induced p... OMIM:619374
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced platelet agg... OMIM:153670
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... OMIM:614074
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Hermansky-Pudlak Syndrome 6
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:614075
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia OMIM:188025
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Sitosterolemia 1
Giant platelets, Thrombocytopenia, Impaired platelet aggregation OMIM:210250
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... OMIM:608233
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased mean platelet volume, Prolonged bleeding time, Thrombocytopenia, Reduced platelet alpha... OMIM:314050
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregation ORPHA:79329
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Abnormal platelet granules ORPHA:238459
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia ORPHA:903
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Prolonged bleeding time, Increased mean platelet vo... ORPHA:182050
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombocytosis ORPHA:324636
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired platelet aggregation,... ORPHA:2968
Wiskott-Aldrich Syndrome
Abnormal platelet morphology, Abnormal platelet function, Prolonged bleeding time, Thrombocytopenia ORPHA:906
Ch├ędiak-Higashi Syndrome
Abnormality of neutrophil physiology, Abnormal platelet function, Thrombocytopenia, Increased pro... ORPHA:167
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Noonan Syndrome
Abnormal platelet function ORPHA:648

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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