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
abnormal snout morphology F7tm1b(EUCOMM)Hmgu HET Early adult 1.99×10-07
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

Download data as:  TSV  XLS

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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
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

2 Images

MicroCT E18.5

Embryo reconstruction

1 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
Prolonged partial thromboplastin time, Reduced circulating prekallikrein concentration, Abnormal ... OMIM:612423
Factor V Deficiency
Prolonged partial thromboplastin time, Prolonged prothrombin time, Bruising susceptibility, Reduc... OMIM:227400
Tatsumi Factor Deficiency
Reduced prothrombin consumption, Prolonged bleeding time, Abnormal bleeding OMIM:272650
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Factor X Deficiency
Prolonged partial thromboplastin time, Prolonged prothrombin time, Reduced factor X activity, Gin... OMIM:227600
Prothrombin Deficiency, Congenital
Prolonged partial thromboplastin time, Prolonged prothrombin time, Gingival bleeding, Bruising su... OMIM:613679
Combined Deficiency Of Factor V And Factor Viii
Prolonged partial thromboplastin time, Prolonged prothrombin time, Gingival bleeding, Prolonged b... ORPHA:35909
Congenital Factor Ii Deficiency
Prolonged partial thromboplastin time, Prolonged prothrombin time, Prolonged bleeding after denta... ORPHA:325
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ristocetin-induced platelet aggregation, Prolo... OMIM:619267
Athrombia, Essential
Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding time, Abnormal blee... OMIM:209050
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding after dental extraction, Bruising susceptibility, Impaired epinephrine-induced... OMIM:615888
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Ecchymosis, Epistaxis, Decreased serum thromboxane B2, Prolonged bleedin... OMIM:614158
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Reduced factor X activity, Reduced factor VII activity, Abnormal blee... OMIM:610842
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged partial thromboplastin time, Prolonged prothrombin time, Reduced protein S activity, Re... OMIM:277450
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... ORPHA:327
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Prolonged prothrombin time, Reduced factor X activity, Gingival bleeding... ORPHA:328
Acquired Purpura Fulminans
Prolonged prothrombin time, Reduced protein S activity, Reduced protein C activity, Hypofibrinoge... ORPHA:49566
Glanzmann Thrombasthenia 1
Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Gingi... OMIM:273800
Glanzmann Thrombasthenia
Impaired thrombin-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... ORPHA:849
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Epistaxis, Bruising susceptibility, Ecchymosis,... OMIM:614201
Von Willebrand Disease, Type 3
Bruising susceptibility, Reduced factor VIII activity, Persistent bleeding after trauma, Menorrha... OMIM:277480
Von Willebrand Disease, Type 1
Prolonged bleeding after dental extraction, Bruising susceptibility, Reduced factor VIII activity... OMIM:193400
Bernard-Soulier Syndrome
Gingival bleeding, Impaired ristocetin-induced platelet aggregation, Prolonged bleeding after den... OMIM:231200
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Bruising susceptibility, Per... ORPHA:99147
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:608404
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Cardiomyopathy, Hyperammonemia OMIM:616483
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Left ventricular hypertro... ORPHA:335
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Joint hemorrhage, Cephalohem... ORPHA:98879
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Reduced factor VII activity, Abnormal circulating homocysteine concen... ORPHA:88618
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Prolonged prothrombin time, Pulmonic stenosis, Hypermethioninemia,... OMIM:614300
Relapsing Fever
Prolonged prothrombin time, Hyperfibrinogenemia, Hypotension, Increased total bilirubin, Elevated... ORPHA:91547
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Hematochezia, Decreased serum bile acid concentration, Hyperbilirubin... OMIM:214950
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Hyperammonemia, Elevated circulating acylcarnitine concentration, Sud... ORPHA:99901
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Menorrhagia, Impaired... OMIM:155100
Afibrinogenemia, Congenital
Death in childhood, Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemor... OMIM:202400
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding OMIM:173420
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alpha-fetoprotein concentration, Prolonged prothrombin time, Hyperammonemia,... OMIM:617049
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Bruising susceptibility, Reduced quant... OMIM:139090
Noonan Syndrome 9
Prolonged prothrombin time, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Prolonged prothrombin time, Hypofibrino... OMIM:267700
Hermansky-Pudlak Syndrome 7
Prolonged bleeding after dental extraction, Bruising susceptibility, Persistent bleeding after tr... OMIM:614076
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy... ORPHA:367
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Reduced pr... OMIM:187900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Monosomy 13Q34
Prolonged prothrombin time, Hematochezia, Pulmonic stenosis, Abnormality of the coagulation casca... ORPHA:96168
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, I... ORPHA:71212
Hepatoportal Sclerosis
Prolonged prothrombin time, Hyperbilirubinemia, Portal hypertension, Gastrointestinal hemorrhage,... ORPHA:64743
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding OMIM:188025
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormality of the... ORPHA:79303
Familial Hypofibrinogenemia
Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Familial Dysfibrinogenemia
Epistaxis, Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Prolonged prothrombin time, Hypoalbuminemia OMIM:613070
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Pulmonary arterial hypertension, Ventricular septal defect, Aborted s... OMIM:614921
Blue Rubber Bleb Nevus
Abnormality of coagulation, Prolonged bleeding time, Intestinal bleeding 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
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Prolonged prothrombin time, Hypofibrinogenemia, Increased total bilirubin, Hyper... OMIM:603553
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Slc35A1-Cdg
Pulmonary hemorrhage, Prolonged bleeding time, Subcutaneous hemorrhage, Abnormal bleeding ORPHA:238459
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Prolonged prothrombin time, Hematochezia OMIM:613812
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time, Hyperammonemia, Hyperglutaminemia, Episodic ammonia intoxication, Ele... OMIM:311250
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Petechiae, Prolonged bleeding time, Bruising susceptibility OMIM:314050
Storage Pool Platelet Disease
Prolonged bleeding time, Abnormal bleeding OMIM:185050
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Prolonged prothrombin time, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Klippel-Trénaunay Syndrome
Atrial septal defect, Pulmonary embolism, Abnormal tricuspid valve morphology, Gastrointestinal h... ORPHA:90308
Sialuria
Prolonged prothrombin time, Prolonged partial thromboplastin time ORPHA:3166
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Prolonged prothrombin time, Intraventricular hemorrhage, Elevated circulating creatine kinase con... OMIM:619055
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time, Abnormal transferrin saturation, Abnormal blood inorganic cation conc... ORPHA:309854
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure, Neonatal death OMIM:301021
Tyrosinemia, Type I
Prolonged prothrombin time, Elevated circulating alpha-fetoprotein concentration, Hypertyrosinemi... OMIM:276700
Alg12-Cdg
Prolonged prothrombin time, Reduced protein S activity, Reduced antithrombin antigen, Reduced pro... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Cardiomyopathy, Reduced antithrombin III activity, Pericardial effusi... OMIM:212065
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatine kinase concentration, Abnormal bleeding, Bradycardia, ... ORPHA:99826
Hellp Syndrome
Prolonged prothrombin time, Hypotension, Cerebral hemorrhage, Hypofibrinogenemia, Internal hemorr... ORPHA:244242
Myh9-Related Disease
Bruising susceptibility, Spontaneous, recurrent epistaxis, Menorrhagia, Myocardial infarction, Pr... ORPHA:182050
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:601399
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after dental extraction, Epidural hemorrhage, Persistent bleeding after trauma... ORPHA:465
Yellow Fever
Prolonged prothrombin time, Reduced left ventricular ejection fraction, Hypofibrinogenemia, Inter... ORPHA:99829
Abetalipoproteinemia
Prolonged prothrombin time, Decreased LDL cholesterol concentration, Cardiomegaly, Hyperbilirubin... ORPHA:14
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Ecchymosis, Impaired ADP-induced platelet aggregation, Abnormal bleeding... OMIM:614075
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Prolonged prothrombin time, Hyperammonemia, Hyperuricemia, Hypotension, Dilated c... ORPHA:20
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Congestive heart failure, Abnormal bleeding OMIM:616271
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time, Prolonged partial thromboplastin time, Abnormality of the coagulation... OMIM:212750
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Impaired ADP-induced platelet aggregation, Menorrhagia, Epistaxis, Prolo... OMIM:614074
Acute Liver Failure
Prolonged prothrombin time, Reduced factor X activity, Reduced factor VII activity, Hyperammonemi... 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
Prolonged prothrombin time, Reduced factor VII activity, Tetralogy of Fallot, Ventricular septal ... OMIM:619525
Kasabach-Merritt Syndrome
Prolonged prothrombin time, Hypofibrinogenemia, Purpura, Petechiae ORPHA:2330
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Prolonged bleeding time ORPHA:3318
Isolated Biliary Atresia
Prolonged prothrombin time, Conjugated hyperbilirubinemia ORPHA:30391
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Bruising susceptibility, Cardiomyopathy, Ecchymosis, Epistaxis, ... OMIM:203300
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Joint hemorrhage, Impaired platelet aggregation, Intestinal bleeding, Me... OMIM:605735
Deafness-Lymphedema-Leukemia Syndrome
Hypercoagulability, Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time, Reduced protein C activity, Decreased LDL cholesterol concentration, ... ORPHA:404454
Factor Vii Deficiency
Prolonged bleeding after dental extraction, Bruising susceptibility, Intracranial hemorrhage, Joi... OMIM:227500
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Spider hemangioma, Portal hypertension, Congestive heart failure, Pal... ORPHA:171
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Neonatal death OMIM:620203
Mixed Connective Tissue Disease
Myocarditis, Pulmonary arterial hypertension, Purpura, Gastrointestinal hemorrhage, Prolonged ble... ORPHA:809
Wiskott-Aldrich Syndrome
Vasculitis, Gingival bleeding, Recurrent intrapulmonary hemorrhage, Hematochezia, Bruising suscep... ORPHA:906
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Cardiac-Urogenital Syndrome
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Tachycardia, Atrial... OMIM:618280
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Rhabdoid Tumor
Hypertension, Hypercalcemia, Internal hemorrhage ORPHA:69077
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Prolonged bleeding time OMIM:608233
Wiskott-Aldrich Syndrome
Gingival bleeding, Small vessel vasculitis, Large vessel vasculitis, Purpura, Melena, Hematemesis... OMIM:301000
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Elevated circulating creatine kinase concentration, Bundle branch... ORPHA:99827
Hemorrhagic Fever-Renal Syndrome
Hypotension, Palpitations, Intracranial hemorrhage, Hyperphosphatemia, Hypertension, Capillary le... ORPHA:340
Classical Ehlers-Danlos Syndrome
Mitral regurgitation, Bruising susceptibility, Tricuspid valve prolapse, Ecchymosis, Abnormal hea... ORPHA:287
Hepatocellular Carcinoma
Hypotension, Budd-Chiari syndrome, Hypokalemia, Hyperbilirubinemia, Portal hypertension, Internal... ORPHA:88673
Superficial Siderosis
Subarachnoid hemorrhage, Internal hemorrhage, Persistent bleeding after trauma, Abnormal bleeding ORPHA:247245
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Bruising susceptibility, Telangiectasia of the skin, Hypertension, Abnormal bleeding, Transient i... 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 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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
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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