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Gene: Thbd MGI:98736

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Gene Summary

Name:
thrombomodulin
Synonyms:
CD141,  TM

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
embryonic lethality prior to organogenesis Thbdtm1.1(KOMP)Vlcg HOM   E9.5 0.00
preweaning lethality, complete penetrance Thbdtm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased lung weight Thbdtm1.1(KOMP)Vlcg HET Early adult 3.98×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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 N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 50% (1 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 100% (2 of 2)
Duodenum N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 100% (2 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
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
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)
Mesenteric lymph node N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 50% (1 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Parotid gland N/A heterozygote 100% (2 of 2)
Penis N/A heterozygote 50% (1 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)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 100% (2 of 2)
Sciatic nerve N/A heterozygote 100% (2 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
Adult LacZ

LacZ Images Section

158 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View 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
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism 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 circulating lactate dehydrogenase concentration OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
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
Hypoalphalipoproteinemia, Primary, 2, Intermediate
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration OMIM:619836
Acatalasemia
Reduced circulating catalase activity OMIM:614097
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:619267
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis, Abnormality of the lymph... ORPHA:638
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... ORPHA:238459
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I OMIM:126850
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia OMIM:188025
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Prolonged bleeding time OMIM:185050
Mixed Connective Tissue Disease
Nephropathy, Mediastinal lymphadenopathy, Hemolytic anemia, Leukopenia, Skin rash, Splenomegaly, ... ORPHA:809
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Prolong... ORPHA:3318
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Blue Rubber Bleb Nevus
Microcytic anemia, Prolonged bleeding time ORPHA:1059
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Atri... ORPHA:90308
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Von Willebrand Disease, Type 1
Aortic valve stenosis, Prolonged bleeding time, Mitral valve prolapse, Impaired platelet aggregation OMIM:193400
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Cardiac-Urogenital Syndrome
Accessory spleen, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, ... OMIM:618280
Prothrombin Deficiency, Congenital
Prolonged bleeding time, Prolonged prothrombin time OMIM:613679
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granules, Hepatos... OMIM:608233
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... OMIM:614074
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Recurrent otit... OMIM:301000
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia,... ORPHA:906
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Cardiomyopathy, Renal insufficiency, Colitis, Pulmonary fibr... OMIM:203300
Hermansky-Pudlak Syndrome 6
Recurrent upper respiratory tract infections, Impaired arachidonic acid-induced platelet aggregat... OMIM:614075
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism 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.

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
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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