Gene Summary

Name:
coagulation factor VII
Synonyms:
Cf7,  FVII

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 F7tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased bone mineral content F7tm1b(EUCOMM)Hmgu HET Early adult 2.39×10-07
abnormal snout morphology F7tm1b(EUCOMM)Hmgu HET Early adult 1.99×10-07
increased total body fat amount F7tm1b(EUCOMM)Hmgu HET Early adult 3.61×10-11
decreased lean body mass F7tm1b(EUCOMM)Hmgu HET Early adult 7.63×10-12

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E18.5

Embryo reconstruction

1 Images

Adult LacZ

LacZ Images Wholemount

2 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
Prekallikrein Deficiency
Abnormal bleeding, Reduced circulating prekallikrein concentration, Prolonged partial thromboplas... OMIM:612423
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Reduced coagulation factor V activity, Prolonged part... OMIM:227400
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time, Reduced prothrombin consumption OMIM:272650
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Factor X Deficiency
Prolonged partial thromboplastin time, Epistaxis, Reduced factor X activity, Prolonged bleeding a... OMIM:227600
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Prolonged partial thromboplastin time, Epis... OMIM:613679
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Reduced coagulation factor V activity, Reduced factor VIII activity,... ORPHA:35909
Congenital Factor Ii Deficiency
Abnormal bleeding, Prolonged partial thromboplastin time, Epistaxis, Joint hemorrhage, Prolonged ... ORPHA:325
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Decreased serum thromboxane B2, Bruising suscepti... OMIM:614158
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Reduced factor IX activity, Reduced factor X activity, Epistaxis, Prolonged pr... OMIM:610842
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Reduced factor IX activity, Prolonged partial thromboplastin time, Epistaxis, ... OMIM:277450
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Reduced factor X activity, Prolo... ORPHA:328
Acquired Purpura Fulminans
Hypofibrinogenemia, Shock, Prolonged partial thromboplastin time, Elevated circulating C-reactive... ORPHA:49566
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... OMIM:614201
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Reduced von Willebrand factor activity, Reduced facto... OMIM:277480
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Reduced factor VIII activity, Epistaxis, Pr... OMIM:193400
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Reduced von Willebrand factor activity, Aortic regurgitation, Reduce... ORPHA:99147
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Prolonged prothrombin time, Hyperammonemia OMIM:616483
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Prolonged prothrombin time, Abnormal umbilical stump bleeding, Gi... ORPHA:335
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged partial thromboplastin time,... ORPHA:98879
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
S-Adenosylhomocysteine Hydrolase Deficiency
Reduced antithrombin III activity, Hypofibrinogenemia, Elevated circulating creatine kinase conce... ORPHA:88618
Relapsing Fever
Abnormal bleeding, Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration,... ORPHA:91547
Bile Acid Synthesis Defect, Congenital, 4
Prolonged partial thromboplastin time, Hematochezia, Prolonged prothrombin time, Decreased serum ... OMIM:214950
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Elevated circulating acylcarnitine concentration, Congestive heart failure,... ORPHA:99901
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induce... OMIM:155100
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Prolonged prothrombin time, Elevated circulating a... OMIM:617049
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Reduced von Willebrand factor activity, Impaired thro... OMIM:139090
Noonan Syndrome 9
Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypofibrinogenemia, Hypertriglyceridemia, ... OMIM:267700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged partial thromboplastin time, Portal hypertension, Congestive heart failure, Dilated car... ORPHA:367
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Reduced proth... OMIM:187900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal bleeding, A... ORPHA:247598
Monosomy 13Q34
Prolonged partial thromboplastin time, Hypercalcemia, Epistaxis, Abnormality of the coagulation c... ORPHA:96168
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... ORPHA:71212
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Prolonged prothrombin time, ... ORPHA:64743
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time OMIM:188025
Congenital Bile Acid Synthesis Defect Type 2
Prolonged partial thromboplastin time, Conjugated hyperbilirubinemia, Abnormality of the coagulat... ORPHA:79303
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Congenital Disorder Of Glycosylation, Type It
Reduced antithrombin III activity, Tachycardia, Prolonged partial thromboplastin time, Ventricula... OMIM:614921
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Abnormality of coagulation ORPHA:1059
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Hyperammonemia OMIM:618641
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypofibrinogenemia, Hypertriglyceridemia, Increased circulating ferritin concentrat... OMIM:603553
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time, Hyperbilirubinemia OMIM:613812
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem... OMIM:311250
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae OMIM:314050
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Prolonged prothrombin time, Hypoalbuminemia, Hypertrophic cardiomyopathy OMIM:618329
Sialuria
Prolonged prothrombin time, Prolonged partial thromboplastin time ORPHA:3166
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Hypoalbuminemia, Elevated circulating cr... OMIM:619055
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Portal hypertension, Hypertrophic cardiomyopathy, ... ORPHA:309854
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Tyrosinemia, Type I
Hypertyrosinemia, Gastrointestinal hemorrhage, Prolonged partial thromboplastin time, Elevated ci... OMIM:276700
Alg12-Cdg
Hyponatremia, Prolonged partial thromboplastin time, Reduced factor XI activity, Reduced protein ... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ia
Reduced antithrombin III activity, Pericarditis, Prolonged partial thromboplastin time, Reduced f... OMIM:212065
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... ORPHA:182050
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Internal hemorrhage, Abnorma... ORPHA:99826
Hellp Syndrome
Hypofibrinogenemia, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Internal hemorr... ORPHA:244242
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis OMIM:601399
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Yellow Fever
Abnormal bleeding, Reduced coagulation factor V activity, Hypofibrinogenemia, Shock, Elevated cir... ORPHA:99829
Abetalipoproteinemia
Abnormal bleeding, Decreased HDL cholesterol concentration, Cardiomegaly, Congestive heart failur... ORPHA:14
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time, Prolonged partial thromboplastin time, Hypocalcemia, Abnormality of t... OMIM:212750
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Congestive heart failure, Prolonged prothrombin time OMIM:616271
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Dilated cardiomyopathy, Hyperammonemia, Prolonged prothrombin time, Hyperuricemia... ORPHA:20
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:614074
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Increased factor VIII activity, Reduced coagulati... ORPHA:90062
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Prolonged partial thromboplastin time OMIM:617941
Congenital Disorder Of Glycosylation, Type Iiw
Reduced antithrombin III activity, Reduced coagulation factor V activity, Hypofibrinogenemia, Pro... OMIM:619525
Kasabach-Merritt Syndrome
Hypofibrinogenemia, Prolonged prothrombin time, Petechiae, Purpura ORPHA:2330
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction ORPHA:3318
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Prolonged prothrombin time ORPHA:30391
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ... OMIM:203300
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Hypercoagulability ORPHA:3226
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hypofibrinogenemia, Reduced factor XI activity, Reduced protein C activity, Decreased LDL cholest... ORPHA:404454
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Primary Sclerosing Cholangitis
Portal hypertension, Spider hemangioma, Congestive heart failure, Prolonged prothrombin time, Hyp... ORPHA:171
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Cardiomyopathy, Dilated, 2H
Neonatal death, Reduced left ventricular ejection fraction OMIM:620203
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myocarditis, Pulmonary arteri... ORPHA:809
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextroca... OMIM:618280
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Hypercalcemia ORPHA:69077
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Hematemesis, Large vessel vasculitis, Melena, Gingival bleedi... OMIM:301000
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:608233
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Crimean-Congo Hemorrhagic Fever
Decreased prothrombin time, Bundle branch block, Elevated circulating creatine kinase concentrati... ORPHA:99827
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Hyperkalemia, Elevated circulating creatinine concent... ORPHA:340
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Mitral... ORPHA:287
Superficial Siderosis
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage ORPHA:247245
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... 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 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Nucleic acid sensing promotes inflammatory monocyte migration through biased coagulation factor VIIa signaling. Blood (December 2023) F7tm1c(EUCOMM)Hmgu 38096370
Protease- and cell type-specific activation of protease-activated receptor 2 in cutaneous inflammation. Journal of thrombosis and haemostasis : JTH (October 2022) F7tm1c(EUCOMM)Hmgu F7tm1a(EUCOMM)Hmgu 36161697
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
F7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
F7tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
F7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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