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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Svilem1(IMPC)Bay HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... OMIM:614201
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:273800
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, G... OMIM:155100
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... ORPHA:849
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr... OMIM:601399
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... OMIM:139090
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Bernard-Soulier Syndrome
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... OMIM:231200
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Bleeding Disorder, Platelet-Type, 17
Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph... OMIM:187900
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Red... OMIM:314050
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Increased mean platelet volume, Neutropenia ORPHA:494444
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... OMIM:614074
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Giant platelets, Anemia, Stomatocytosis, Episodic hemolytic anemia... OMIM:210250
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Slc35A1-Cdg
Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp... OMIM:608233
Myh9-Related Disease
Prolonged bleeding time, Increased mean platelet volume, Giant platelets, Neutrophil inclusion bo... ORPHA:182050
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Chr... ORPHA:906
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... ORPHA:324636
Ch├ędiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Vacuolated lymphocytes, Neutropenia, H... ORPHA:167
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Impa... ORPHA:79329
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function ORPHA:648
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Polycythemia, Leukocytosis, Bone marrow hypocellularity, Abnormality of n... 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.

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

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