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Gene: Emilin2 MGI:2389136

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Emilin2em1(IMPC)J HOM Early adult 1.38×10-06
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

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View 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 arachidonic acid-induced platelet aggregation, Impaired ADP-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
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... OMIM:614201
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... OMIM:187800
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:155100
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets OMIM:608404
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Abnormal dense granule content, Pr... OMIM:601399
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... OMIM:139090
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... 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
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Prolonged bleeding time... OMIM:187900
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Immunodeficiency 81
Impaired neutrophil chemotaxis, Impaired collagen-induced platelet aggregation, Reduced antigen-s... OMIM:619374
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired collagen-related peptide-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:153670
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... OMIM:614074
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation OMIM:300835
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia OMIM:188025
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Sitosterolemia 1
Thrombocytopenia, Impaired platelet aggregation, Giant platelets OMIM:210250
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Reduced natural killer cell activity, Impaired ADP-induced plat... OMIM:608233
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume OMIM:185050
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... ORPHA:274
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Thrombocytopenia, Increased mean platelet volume, Reduced platelet alpha... OMIM:314050
Mgat2-Cdg
Decreased circulating antibody level, Impaired platelet aggregation, Decreased circulating IgG level ORPHA:79329
Slc35A1-Cdg
Prolonged bleeding time, Thrombocytopenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Myh9-Related Disease
Prolonged bleeding time, Congenital thrombocytopenia, Increased mean platelet volume, Giant plate... ORPHA:182050
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Essential Thrombocythemia
Abnormality of thrombocytes, Prolonged bleeding time, Abnormal platelet morphology ORPHA:3318
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Leukocyte Adhesion Deficiency
Impaired neutrophil chemotaxis, Impaired platelet aggregation, Thrombocytosis, Bone marrow hypoce... ORPHA:2968
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocytopenia ORPHA:324636
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Abnormal platelet morphology, Thrombocytopenia, Abnormal platelet function ORPHA:906
Chédiak-Higashi Syndrome
Thrombocytopenia, Abnormal platelet function, Increased proportion of CD25+ mast cells, Abnormali... 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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