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

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% (3 of 443)
aorta 0.0%
bone 0.0%
brain 1.13% (5 of 443)
brainstem 0.46% (2 of 437)
brown adipose tissue 0.0%
cartilage tissue 0.23% (1 of 436)
cerebellum 0.7% (3 of 430)
cerebral cortex 0.22% (1 of 451)
esophagus 1.63% (5 of 307)
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.46% (2 of 436)
hypothalamus 0.23% (1 of 436)
kidney 4.98% (22 of 442)
large intestine 4.92% (21 of 427)
liver 0.0%
lower urinary tract 0.0%
lung 0.45% (2 of 443)
lymph node 0.23% (1 of 426)
mammary gland 0.0%
olfactory lobe 0.22% (1 of 446)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.92% (4 of 437)
parathyroid gland 0.23% (1 of 432)
peripheral nervous system 0.23% (1 of 444)
peyers patch 0.0%
pituitary gland 0.24% (1 of 416)
prostate gland 1.85% (8 of 433)
skeletal muscle 0.0%
skin 0.0%
small intestine 4.73% (21 of 444)
spinal cord 0.66% (3 of 453)
spleen 0.46% (2 of 434)
stomach 3.87% (17 of 439)
striatum 0.46% (2 of 438)
testis 1.12% (5 of 446)
thymus 0.23% (1 of 440)
thyroid gland 2.51% (11 of 438)
trachea 0.46% (2 of 433)
uterus 0.44% (2 of 459)
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 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

2 Images

X-ray

XRay Images Whole Body Lateral 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
Prekallikrein Deficiency
Abnormal bleeding, Prolonged partial thromboplastin time, Reduced circulating prekallikrein conce... OMIM:612423
Factor V Deficiency
Prolonged partial thromboplastin time, Bruising susceptibility, Abnormal bleeding, Menorrhagia, R... 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
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Reduced factor VIII activity, Hyperlipidemia, Prolonged bleeding following circ... ORPHA:35909
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Factor X Deficiency
Joint hemorrhage, Reduced factor X activity, Intracranial hemorrhage, Menorrhagia, Gingival bleed... OMIM:227600
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Athrombia, Essential
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... OMIM:209050
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Decreased serum thromboxane B2, Ecchymosis, Epistaxis, Prolonged bleedin... OMIM:614158
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Reduced factor VII activity, Reduced protein C activity, Reduced factor IX acti... OMIM:277450
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Reduced factor VII activity, Reduced factor IX activity, Reduced factor X activity, Abnormal blee... OMIM:610842
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Acquired Purpura Fulminans
Reduced protein C activity, Elevated circulating C-reactive protein concentration, Reduced protei... ORPHA:49566
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time OMIM:614201
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time OMIM:615888
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... ORPHA:849
Von Willebrand Disease, Type 3
Joint hemorrhage, Reduced factor VIII activity, Persistent bleeding after trauma, Bruising suscep... OMIM:277480
Von Willebrand Disease, Type 1
Joint hemorrhage, Reduced factor VIII activity, Aortic valve stenosis, Persistent bleeding after ... OMIM:193400
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Reduced factor VIII activity, Aortic valve stenosis, Persistent bleedin... ORPHA:99147
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... OMIM:231200
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 umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Hemophilia B
Joint hemorrhage, Reduced factor IX activity, Delayed onset bleeding, Prolonged bleeding after de... ORPHA:98879
S-Adenosylhomocysteine Hydrolase Deficiency
Reduced factor VII activity, Reduced antithrombin III activity, Prolonged prothrombin time, Abnor... ORPHA:88618
Relapsing Fever
Elevated circulating C-reactive protein concentration, Abnormal bleeding, Tachycardia, Hypotensio... ORPHA:91547
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, Hyperammonemia, Elevated... ORPHA:99901
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Me... OMIM:155100
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Abnormal bleeding, Menor... OMIM:139090
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect, Prolonged prothrombin time OMIM:616559
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Prolonged prothrombin time, Hyperammon... OMIM:617049
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hypoalbuminemia, Portal hypertension, Abnormal cardiomyocyte morphology, ... ORPHA:367
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Reduced prothrombin consumption, Petechiae, Impai... OMIM:187900
Monosomy 13Q34
Pulmonic stenosis, Hematochezia, Common atrium, Abnormality of the coagulation cascade, Infantile... ORPHA:96168
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Hepatoportal Sclerosis
Hyperbilirubinemia, Abnormal bleeding, Hypoalbuminemia, Portal hypertension, Gastrointestinal hem... ORPHA:64743
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Hyperammonemia, Increased C-peptide level, Mi... ORPHA:71212
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time OMIM:188025
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Bruising susceptibility, Prolonged bleeding time OMIM:314050
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Abnormal serum bile acid concentration, Abnormality of the coagulation cascad... ORPHA:79303
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Gastrointestinal hemorrhage, Epistaxis ORPHA:98881
Liver Failure, Infantile, Transient
Hypoalbuminemia, Prolonged prothrombin time, Hyperbilirubinemia OMIM:613070
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Blue Rubber Bleb Nevus
Abnormality of coagulation, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Congenital Disorder Of Glycosylation, Type It
Reduced antithrombin III activity, Sudden cardiac death, Tachycardia, Elevated circulating creati... OMIM:614921
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time, Hyperammonemia OMIM:618641
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy, Prolonged bleeding time ORPHA:638
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Subcutaneous hemorrhage, Prolonged bleeding time ORPHA:238459
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hyperglutaminemia, Elevated... OMIM:311250
Fechtner syndrome
Abnormal bleeding, Menorrhagia, Bruising susceptibility, Prolonged bleeding time OMIM:153640
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Hypoalbuminemia OMIM:618329
Klippel-Trénaunay Syndrome
Atrial septal defect, Pulmonary embolism, Hypercoagulability, Internal hemorrhage, Gastrointestin... ORPHA:90308
Sialuria
Prolonged partial thromboplastin time, Prolonged prothrombin time ORPHA:3166
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Abnormal transferrin saturation, Hyperglycinemia, P... ORPHA:309854
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Prolonged prothr... OMIM:619055
Congenital Disorder Of Glycosylation, Type Ia
Reduced factor XI activity, Reduced antithrombin III activity, Prolonged prothrombin time, Hypoch... OMIM:212065
Alg12-Cdg
Reduced protein C activity, Reduced factor XI activity, Muscular ventricular septal defect, Reduc... ORPHA:79324
Marburg Hemorrhagic Fever
Elevated circulating creatinine concentration, Pericarditis, Abnormal bleeding, Tachycardia, Elev... ORPHA:99826
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Epistaxis, Bruising susceptibility, Prolonged bleeding time OMIM:601399
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Myh9-Related Disease
Bruising susceptibility, Menorrhagia, Spontaneous, recurrent epistaxis, Myocardial infarction, Pr... ORPHA:182050
Tyrosinemia, Type I
Melena, Hypophosphatemic rickets, Hypertrophic cardiomyopathy, Elevated alpha-fetoprotein, Hyperm... OMIM:276700
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Myocardial fibrosis, Reduced plasminogen activator inhibitor 1 antigen, Hemoper... ORPHA:465
Yellow Fever
Supraventricular arrhythmia, Hematemesis, Excessive bleeding after a venipuncture, Hyperbilirubin... ORPHA:99829
Hellp Syndrome
Cerebral hemorrhage, Hypotension, Internal hemorrhage, Hypofibrinogenemia, Prolonged prothrombin ... ORPHA:244242
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Abnormal bleeding, Decreas... ORPHA:14
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... OMIM:614075
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Prolonged prothrombin time, Congestive heart failure OMIM:616271
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Hypotension, Dilated cardiomyopathy, Hyperuricemia, Cardiac arrest, Prolonged pro... ORPHA:20
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Epistaxis, Prolo... OMIM:614074
Celiac Disease, Susceptibility To, 1
Abnormality of the coagulation cascade, Prolonged partial thromboplastin time, Prolonged prothrom... OMIM:212750
Acute Liver Failure
Reduced factor VII activity, Bruising susceptibility, Reduced factor X activity, Abnormal bleedin... ORPHA:90062
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Congenital Disorder Of Glycosylation, Type Iiw
Reduced factor VII activity, Reduced factor IX activity, Reduced factor XI activity, Bleeding wit... OMIM:619525
Shwachman-Diamond Syndrome 2
Prolonged partial thromboplastin time, Prolonged prothrombin time OMIM:617941
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Prolonged bleeding time ORPHA:3318
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Prolonged prothrombin time ORPHA:30391
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... OMIM:605735
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Hematochezia, Gingival bleeding, Ecchymosis, Epistaxis, Cardiomyopathy, ... OMIM:203300
Stuve-Wiedemann Syndrome 2
Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stillbirth, Congestive hea... OMIM:619751
Kasabach-Merritt Syndrome
Purpura, Hypofibrinogenemia, Prolonged prothrombin time, Petechiae ORPHA:2330
Deafness-Lymphedema-Leukemia Syndrome
Hypercoagulability, Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Reduced protein C activity, Reduced factor XI activity, Corneal neovascularization, Decreased LDL... ORPHA:404454
Primary Sclerosing Cholangitis
Palmar telangiectasia, Spider hemangioma, Hypoalbuminemia, Portal hypertension, Prolonged prothro... ORPHA:171
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis OMIM:227500
Mixed Connective Tissue Disease
Myocarditis, Purpura, Gastrointestinal hemorrhage, Pericarditis, Pulmonary arterial hypertension,... ORPHA:809
Wiskott-Aldrich Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Intracrania... ORPHA:906
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... OMIM:618280
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Rhabdoid Tumor
Hypertension, Hypercalcemia, Internal hemorrhage ORPHA:69077
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Wiskott-Aldrich Syndrome, Autosomal Dominant
Gingival bleeding, Large vessel vasculitis, Epistaxis, Small vessel vasculitis, Prolonged bleedin... OMIM:600903
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Prolonged bleeding time OMIM:608233
Wiskott-Aldrich Syndrome
Melena, Petechiae, Hematemesis, Gingival bleeding, Purpura, Large vessel vasculitis, Epistaxis, S... OMIM:301000
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Decr... ORPHA:99827
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Hemorrhagic Fever-Renal Syndrome
Melena, Petechiae, Hematemesis, Intracranial hemorrhage, Palpitations, Tachycardia, Hypotension, ... ORPHA:340
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Abnormal heart valve physiology, Bruising susceptibility, Orthostatic h... ORPHA:287
Hepatocellular Carcinoma
Budd-Chiari syndrome, Hypokalemia, Hyperbilirubinemia, Hypotension, Hypoalbuminemia, Portal hyper... ORPHA:88673
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Persistent bleeding after trauma, Internal hemorrhage ORPHA:247245
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Bruising susceptibility, Abnormal bleeding, Renovascular hypertension... 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
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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