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Gene: Serpind1 MGI:96051

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade D, member 1
Synonyms:
HCII,  HC II,  heparin cofactor II,  Hcf2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Serpind1 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 Serpind1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Heparin Cofactor Ii Deficiency
OMIM:612356

The table below shows human diseases predicted to be associated to Serpind1 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
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... OMIM:619267
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... OMIM:273800
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... OMIM:615888
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... OMIM:614201
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... ORPHA:849
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis OMIM:614009
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... OMIM:155100
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... OMIM:187800
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Epistaxis OMIM:609821
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Impaired platelet aggregation, Epistaxis OMIM:605735
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... OMIM:601399
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat... OMIM:231200
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... OMIM:139090
Von Willebrand Disease, Type 3
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... OMIM:277480
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... OMIM:187900
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis OMIM:614076
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s... OMIM:193400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregation, Impa... OMIM:153670
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... OMIM:619374
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... OMIM:614075
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Epistaxis, Reduced platelet dense granules OMIM:619172
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... OMIM:603585
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Decr... ORPHA:274
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Mgat2-Cdg
Decreased circulating antibody level, Reflex asystolic syncope, Arrhythmia, Decreased circulating... ORPHA:79329
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Epistaxis OMIM:614077
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Joint hemorrhage, Intracrani... ORPHA:324636
Sitosterolemia 1
Giant platelets, Impaired platelet aggregation, Thrombocytopenia OMIM:210250
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... OMIM:608233
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Chédiak-Higashi Syndrome
Epistaxis, Increased proportion of CD25+ mast cells, Abnormality of neutrophil physiology, Abnorm... ORPHA:167
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypertension, Prolonged QT interval, Abnormal platelet function ORPHA:79443
Noonan Syndrome
Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal platelet function ORPHA:648
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Low-to-normal blood pressure OMIM:241200
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis... ORPHA:2968
Heparin Cofactor Ii Deficiency
OMIM:612356

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 Serpind1

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 Serpind1.

No publications found that use IMPC mice or data for Serpind1.

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MGI Allele Allele Type Produced
Serpind1tm82547(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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