Gene Summary

Name:
supervillin
Synonyms:
B430302E16Rik

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.

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.

Phenotype associated images not available

Human diseases caused by Svil 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 Svil by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myofibrillar Myopathy 10
OMIM:619040

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Athrombia, Essential
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion OMIM:209050
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... OMIM:619267
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Platelet Disorder, Undefined
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... OMIM:273800
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Prolonged bleeding time, Abnormal alpha g... OMIM:601399
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Sebastian syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:605249
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia OMIM:600208
Bernard-Soulier Syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Impaired ristocetin-induced platelet ... OMIM:231200
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Reduced natural killer cell activity, Impa... OMIM:619374
Von Willebrand Disease, Type 3
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Hermansky-Pudlak Syndrome 6
Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:614075
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Thrombocythemia 3
Thrombocytosis OMIM:614521
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:155100
Slc35A1-Cdg
Neutropenia, Abnormal platelet granules, Prolonged bleeding time, Giant platelets, Thrombocytopenia ORPHA:238459
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly, Prolonge... ORPHA:3318
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Hermansky-Pudlak Syndrome 2
Neutropenia, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plate... OMIM:608233
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Prolonged bleeding time, Giant plate... ORPHA:182050
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... ORPHA:324636
Ch├ędiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Thrombocytopenia 1
Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocytopenia, I... OMIM:313900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function ORPHA:648
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Hermansky-Pudlak Syndrome 4
Abnormal platelet granules OMIM:614073
Leukocyte Adhesion Deficiency
Thrombocytosis, Leukocytosis, Polycythemia, Bone marrow hypocellularity, Acute myeloid leukemia, ... ORPHA:2968
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Myofibrillar Myopathy 10
OMIM:619040

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 Svil

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 Svil.

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

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Sviltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Svilem1(IMPC)Bay Exon Deletion Mice
Sviltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sviltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter