Gene Summary

Name:
coagulation factor VII
Synonyms:
FVII,  Cf7

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
decreased lean body mass F7tm1b(EUCOMM)Hmgu HET Early adult 7.63×10-12
decreased bone mineral content F7tm1b(EUCOMM)Hmgu HET Early adult 2.39×10-07
increased total body fat amount F7tm1b(EUCOMM)Hmgu HET Early adult 3.61×10-11
abnormal snout morphology F7tm1b(EUCOMM)Hmgu HET Early adult 2.33×10-07
preweaning lethality, incomplete penetrance F7tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Liver  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Wholemount

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by F7 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 F7 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to F7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Prolonged partial thromboplastin time, Reduced coagul... OMIM:227400
Tatsumi Factor Deficiency
Abnormal bleeding, Reduced prothrombin consumption, Prolonged bleeding time OMIM:272650
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Prothrombin Deficiency, Congenital
Prolonged partial thromboplastin time, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged b... OMIM:613679
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Prolonged partial thromboplastin time, Joint hemorrhage, Gastro... ORPHA:35909
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Reduced prothrombin antigen, Joint hemorrhage, Prolonged part... ORPHA:325
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Factor X Deficiency
Reduced factor X activity, Joint hemorrhage, Prolonged partial thromboplastin time, Intracranial ... OMIM:227600
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhe... OMIM:209050
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Decreased serum thromboxane B2, Bruising susceptibility, Ecch... OMIM:614158
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Reduced factor X activity, Joint hemorrhage, Gastrointestinal h... ORPHA:328
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Reduced factor X activity, Reduced factor VII activity, Epistaxis, Reduced fac... OMIM:610842
Acquired Purpura Fulminans
Hypofibrinogenemia, Prolonged partial thromboplastin time, Internal hemorrhage, Intracranial hemo... ORPHA:49566
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Prolonged ble... OMIM:277480
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Impaired platelet aggregation, Prolonged bleeding after surgery... OMIM:193400
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Reduced von Willebrand factor activity, Joint hemorrhage, Gastr... ORPHA:99147
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Infantile Liver Failure Syndrome 2
Hyperammonemia, Cardiomyopathy, Prolonged prothrombin time OMIM:616483
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Gingival bleeding, Right ventricular hypertrophy, Left ve... ORPHA:335
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Prolonged partial thr... ORPHA:98879
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Prolonged prothrombin time OMIM:617049
S-Adenosylhomocysteine Hydrolase Deficiency
Reduced factor VII activity, Hypofibrinogenemia, Reduced antithrombin III activity, Abnormality o... ORPHA:88618
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Menorrhagia, Bruisi... OMIM:155100
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Cerebellar hemorrhage, Elevated creatine kina... ORPHA:99901
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Bruising susceptibility OMIM:600208
Relapsing Fever
Increased total bilirubin, Abnormal bleeding, Hyperfibrinogenemia, Hypotension, Elevated circulat... ORPHA:91547
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time OMIM:173420
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Noonan Syndrome 9
Pulmonic stenosis, Prolonged prothrombin time, Ventricular septal defect OMIM:616559
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hypofib... OMIM:267700
Sebastian syndrome
Prolonged bleeding time, Epistaxis OMIM:605249
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged partial thromboplastin time, Congestive heart failure, Hypoalbuminemia, Dilated cardiom... ORPHA:367
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Monosomy 13Q34
Prolonged partial thromboplastin time, Hematochezia, Epistaxis, Pulmonic stenosis, Common atrium,... ORPHA:96168
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Petechiae, Re... OMIM:187900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Abnormal circulating acetylcarnitine concentration, Mildly elevated c... ORPHA:71212
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Prolonged bleeding time, Epistaxis, Bruising susceptibility OMIM:314050
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time OMIM:188025
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Infantile Liver Failure Syndrome 3
Hyperammonemia, Prolonged prothrombin time OMIM:618641
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Prolonged bleeding time, Hypertrophic cardiomyopathy ORPHA:638
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Congenital Disorder Of Glycosylation, Type Ia
Reduced antithrombin III activity, Prolonged partial thromboplastin time, Pericardial effusion, C... OMIM:212065
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:614074
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hypofib... OMIM:603553
Blue Rubber Bleb Nevus
Prolonged bleeding time, Abnormality of coagulation, Intestinal bleeding ORPHA:1059
Slc35A1-Cdg
Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Prolonged bleeding time ORPHA:238459
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Abnormality of coagulation, Hyperglycinemia, Abnormal tran... ORPHA:309854
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Intraventricular hemorrhage,... OMIM:619055
Fechtner syndrome
Abnormal bleeding, Menorrhagia, Prolonged bleeding time, Bruising susceptibility OMIM:153640
Sialuria
Prolonged partial thromboplastin time, Prolonged prothrombin time ORPHA:3166
Klippel-Trénaunay Syndrome
Atrial septal defect, Prolonged bleeding time, Gastrointestinal hemorrhage, Abnormal tricuspid va... ORPHA:90308
+173470 integrin, beta-3
Impaired platelet aggregation, Abnormal bleeding, Abnormality of coagulation, Gastrointestinal he... OMIM:173470
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis,... OMIM:614075
Hellp Syndrome
Hypofibrinogenemia, Internal hemorrhage, Hypotension, Cerebral hemorrhage, Prolonged prothrombin ... ORPHA:244242
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis, Bruising susceptibility OMIM:601399
Abetalipoproteinemia
Abnormal bleeding, Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL ch... ORPHA:14
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... ORPHA:182050
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Hyperuricemia, Cardiac arrest, Dilated cardiomyopathy, Hyperammonemia, Prolonged pro... ORPHA:20
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Prolonged partial thromboplastin time, Prolonged prothrombin time, Abnormality of t... OMIM:212750
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Myocardial fibrosis, Joint he... ORPHA:465
Acute Liver Failure
Abnormal bleeding, Reduced factor X activity, Reduced factor VII activity, Gastrointestinal hemor... ORPHA:90062
Shwachman-Diamond Syndrome 2
Prolonged partial thromboplastin time, Prolonged prothrombin time OMIM:617941
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hematochezia, Cardiomyopathy, Epistaxis, Bruising susceptibility, Gingiv... OMIM:203300
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Prolonged prothrombin time ORPHA:30391
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Prolonged bleeding time ORPHA:3318
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hypofibrinogenemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Reduced protein... ORPHA:404454
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Hypercoagulability, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Kasabach-Merritt Syndrome
Petechiae, Hypofibrinogenemia, Prolonged prothrombin time, Purpura ORPHA:2330
Primary Sclerosing Cholangitis
Spider hemangioma, Congestive heart failure, Palmar telangiectasia, Hypoalbuminemia, Portal hyper... ORPHA:171
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Mixed Connective Tissue Disease
Prolonged bleeding time, Pericarditis, Gastrointestinal hemorrhage, Purpura, Myocarditis, Pulmona... ORPHA:809
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Rhabdoid Tumor
Hypertension, Hypercalcemia, Internal hemorrhage ORPHA:69077
Wiskott-Aldrich Syndrome, Autosomal Dominant
Small vessel vasculitis, Prolonged bleeding time, Large vessel vasculitis, Epistaxis, Gingival bl... OMIM:600903
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Small vessel vasculitis, Purpura, Hematemesis, Large vessel vasculitis, ... OMIM:301000
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Prolonged bleeding time OMIM:608233
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Abnormal heart valve physiology, Tricuspid valv... ORPHA:287
Hepatocellular Carcinoma
Internal hemorrhage, Hypotension, Hyperbilirubinemia, Hyponatremia, Budd-Chiari syndrome, Hypokal... ORPHA:88673
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Internal hemorrhage, Abnormal heart valve morphology, Renovascular hypertensio... ORPHA:286

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 F7

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 F7.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) F730043M19Riktm1.1(NCC)WCS PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) F730043M19Riktm1.1(NCC)WCS PMC6671969

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MGI Allele Allele Type Produced
F7tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (post-Cre) Mice
F7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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