Gene Summary

Name:
thrombomodulin
Synonyms:
CD141,  TM

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, complete penetrance Thbdtm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic lethality prior to organogenesis Thbdtm1.1(KOMP)Vlcg HOM   E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone marrow  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric lymph node  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

158 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612926
Thrombophilia Due To Thrombomodulin Defect
OMIM:614486

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Acatalasemia
Reduced catalase level OMIM:614097
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Reduced glutathione synthetase level, Glyoxalase deficiency OMIM:231900
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Athrombia, Essential
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion OMIM:209050
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... OMIM:619267
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Decreased serum thromboxane B2 OMIM:614158
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Sebastian syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:605249
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia OMIM:600208
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Abnormality of the lymphatic system, Prolonged bleeding time, Pulmon... ORPHA:638
Slc35A1-Cdg
Neutropenia, Pneumonia, Pulmonary hemorrhage, Abnormal platelet granules, Prolonged bleeding time... ORPHA:238459
Platelet Disorder, Undefined
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I OMIM:126850
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... OMIM:273800
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
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Thrombocytopenia, Acute leukemia, Lymphadenopathy, Bone marrow hypoce... ORPHA:3226
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Prolonged bleeding time OMIM:188025
Bernard-Soulier Syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Impaired ristocetin-induced platelet ... OMIM:231200
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Prolonged bleeding time, Abnormal alpha g... OMIM:601399
Fechtner syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Giant platelets... OMIM:153640
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy,... ORPHA:809
Essential Thrombocythemia
Prolonged bleeding time, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia ORPHA:1059
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Prolonged... ORPHA:90308
Hermansky-Pudlak Syndrome 6
Abnormal platelet granules, Recurrent upper respiratory tract infections, Prolonged bleeding time... OMIM:614075
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... OMIM:600903
Von Willebrand Disease, Type 3
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Prolonged bleeding time, ... ORPHA:182050
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Von Willebrand Disease, Type 1
Aortic valve stenosis, Prolonged bleeding time, Mitral valve prolapse, Impaired platelet aggregation OMIM:193400
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Sple... OMIM:608233
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Prolonged bleeding time OMIM:614074
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Cardiomyopathy, Prolonged bleeding time, Pulmonary fibrosis,... OMIM:203300
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Prolonged bleeding time OMIM:187900
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phytohemaggl... OMIM:301000
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet function, ... ORPHA:906
Hemophilia B
Prolonged bleeding time ORPHA:98879
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612926
Thrombophilia Due To Thrombomodulin Defect
OMIM:614486

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 Thbd

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 Thbd.

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

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MGI Allele Allele Type Produced
Thbdtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Thbdtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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