Gene Summary

Name:
Rho guanine nucleotide exchange factor (GEF) 12
Synonyms:
LARG,  2310014B11Rik

IMPC Data Collections

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
embryonic growth retardation Arhgef12tm1b(KOMP)Wtsi HOM E9.5 0.00
enlarged heart Arhgef12tm1b(KOMP)Wtsi HET Early adult 0.00
increased prepulse inhibition Arhgef12tm1b(KOMP)Wtsi HET Early adult 1.93×10-07
abnormal embryo size Arhgef12tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal embryo size Arhgef12tm1b(KOMP)Wtsi HOM E9.5 0.00
embryonic growth retardation Arhgef12tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal heart morphology Arhgef12tm1b(KOMP)Wtsi HET Early adult 0.00
decreased mean corpuscular volume Arhgef12tm1b(KOMP)Wtsi HET Early adult 7.10×10-06
decreased hematocrit Arhgef12tm1b(KOMP)Wtsi HET Early adult 9.72×10-06
decreased locomotor activity Arhgef12tm1b(KOMP)Wtsi HET Early adult 2.69×10-05
abnormal heart shape Arhgef12tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, incomplete penetrance Arhgef12tm1b(KOMP)Wtsi HOM   Early adult 0.00

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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Blood  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

140 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Arhgef12 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arhgef12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Atrial septal defect, Increased mean corpuscular volume, ... OMIM:612561
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Congenital Toxoplasmosis
Anemia, Cardiomegaly, Thrombocytopenia, Hepatomegaly ORPHA:858
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly, Lethargy OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Lethargy OMIM:619064
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Anemia, Restrictive cardiomyopathy, Cardiomegal... ORPHA:85451
Neuraminidase Deficiency
Dysmetria, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Cardiomyop... OMIM:256550
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy, Cardiomegaly OMIM:212140
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:269920
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Ataxia, Hepatomegaly, Lethargy, Fatigable weakness, Cardiomegaly ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Truncal ataxia, Ventricular hypertrophy, Limb ataxia OMIM:619051
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume, Spastic ataxia, Lethargy OMIM:277410
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Cardiomegaly, Leukocytosis OMIM:618886
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Perry Syndrome
Hypotension ORPHA:178509
Sickle Cell Anemia
Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, Hemolytic anemia,... OMIM:603903
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Neutropenia, Increased mean corpuscular volume, Ventricular septal defect, S... OMIM:612562
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Ataxia, Unsteady gait, Gait ataxia, Truncal ataxia, Cardiomyopathy, Gait disturbanc... OMIM:619259
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly, Lethargy OMIM:255120
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Atrial septal defect, Erythroid hypoplasia, Acute myeloid leukemia, E... ORPHA:124
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Analbuminemia
Hypotension OMIM:616000
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Methylcobalamin Deficiency Type Cble
Pancytopenia, Lethargy, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension ORPHA:79455
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Inability to walk, Steppage ga... ORPHA:324410
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral valve calcification, Mitral stenosis, Aortic val... OMIM:231005
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Neuroendocrine Tumor Of The Colon
Hypotension, Melena, Right ventricular failure, Palpitations, Tricuspid regurgitation, Facial tel... ORPHA:100080
Snakebite Envenomation
Cardiogenic shock, Hypotension, Myocardial infarction, Cerebral ischemia, Tachycardia, Intracrani... ORPHA:449285
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Ataxia OMIM:266500
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Hepatomegaly, Chronic hemolytic anemia, Hemolytic... OMIM:618278
Nipah Virus Disease
Hypotension ORPHA:99825
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Cardiomegaly, Ventricular septal defect, Patent foramen ovale OMIM:618652
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
Adult Acute Respiratory Distress Syndrome
Vasculitis, Hypotension, Shock ORPHA:70578
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Melena, Right ventricular failure, Palpitations, Tricuspid regurgitati... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Melena, Right ventricular failure, Palpitations, Tricuspid regurgitati... ORPHA:100082
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Ataxia OMIM:105210
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy OMIM:201475
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Dilated cardiomyopathy, Thrombocytopenia, Ventricular septal d... ORPHA:261250
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Aortic regurgitation, Hypotension, Pulmonic s... ORPHA:99147
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Hypotension, Right ventricular failure, Palpitations, Tricuspid regurgitation,... ORPHA:97287
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Hsd10 Disease, Infantile Type
Loss of ability to walk, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Dengue Fever
Cerebral hemorrhage, Hypotension, Gastrointestinal hemorrhage, Epistaxis ORPHA:99828
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Heart block, Capillary leak, Tachycardia ORPHA:542323
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Akinesia, Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia OMIM:608013
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Hepatomegaly, Lethargy, Cardiomyopathy, Cardiomegaly ORPHA:465508
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly, Ventricular septal defect, Overriding aorta OMIM:617022
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension OMIM:264350
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Hypotension, Hematemesis, Melena, Right ventricular failure, Palpitations, Tri... ORPHA:100075
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Ataxia OMIM:268800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Inability to walk, Right ventricular hypertrophy, Tip-toe gait ORPHA:268
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616897
Abetalipoproteinemia
Dysmetria, Ataxia, Steppage gait, Acanthocytosis, Gait ataxia, Anemia, Hepatomegaly, Reticulocyto... ORPHA:14
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
Mastocytosis
Telangiectasia of the skin, Hypotension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:98292
Familial Hypoaldosteronism
Hypovolemia, Orthostatic hypotension, Hypotension ORPHA:427
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:230000
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Cardiomegaly, Left ventricular hypertroph... ORPHA:79330
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Eisenmenger Syndrome
Tetralogy of Fallot, Aortopulmonary window, Atrial septal defect, Bacterial endocarditis, Hepatom... ORPHA:97214
Aa Amyloidosis
Hypotension ORPHA:85445
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Ileal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Palpitations, ... ORPHA:100078
Jejunal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Palpitations, ... ORPHA:100077
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Hypotension, Ventricular tachycardia, Arrhythmia ORPHA:159
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Colchicine Poisoning
Hypovolemia, Arrhythmia, Congestive heart failure, Cardiogenic shock, Myocarditis, Hypotension ORPHA:31824
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Developmental And Epileptic Encephalopathy 95
Inability to walk, Hepatomegaly, Ataxia, Gait disturbance, Cardiomegaly OMIM:618143
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Hepatomegaly, Lethargy, Cardiomegaly OMIM:608836
Legionnaires Disease
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:549
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Ventricular arrhyth... ORPHA:90068
Serotonin Syndrome
Tachycardia, Hypotension, Hypertension ORPHA:43116
Whipple Disease
Gastrointestinal hemorrhage, Myocardial infarction, Hypotension, Myocarditis, Pericarditis ORPHA:3452
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Aggressive Systemic Mastocytosis
Portal hypertension, Hypotension, Gastrointestinal hemorrhage ORPHA:98850
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic ste... OMIM:602782
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Congenital Enterovirus Infection
Cardiomyopathy, Hypotension, Myocarditis ORPHA:292
Congenital Hypothyroidism
Hypotension, Hypertension, Arrhythmia ORPHA:442
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Splenomegaly, Ataxia, Abnormal ... ORPHA:581
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Staphylococcal Necrotizing Pneumonia
Shock, Hypotension ORPHA:36238
Ethylene Glycol Poisoning
Congestive heart failure, Hypotension, Prolonged QT interval, Atrial fibrillation, Hypertension, ... ORPHA:31826
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Duodenal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Pulmonic stenosis, Hematemesis, M... ORPHA:100076
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Hypotension, Arrhythmia ORPHA:2135
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... ORPHA:3384
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Hypertrophic cardiomyopathy, Hepatomegaly, Fatigable weakness of respiratory m... ORPHA:365
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Poliomyelitis
Hypotension, Hypovolemic shock, Hypertension ORPHA:2912
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy, Hepatomegaly ORPHA:228308
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly OMIM:252500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Bacterial Toxic-Shock Syndrome
Hypotension, Myocarditis, Capillary leak, Tachycardia, Shock ORPHA:36234
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Neuroleptic Malignant Syndrome
Arrhythmia, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension, Bradycardia, Tach... ORPHA:94093
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Shock, Hypotension, Capillary leak, Hypertension, Hematemesis, Melena... ORPHA:340
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Cholera
Tachycardia, Hypovolemic shock, Hypotension ORPHA:173
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Abnormal he... ORPHA:95430
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Atrial septal defect, Left ventricular nonc... OMIM:300967
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Hypotension, Myocarditis, Bradycardia, Shock ORPHA:319213
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Tachycardia, Hypotension ORPHA:98849
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... ORPHA:1677
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated pla... ORPHA:90041
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hypotension, Cardiac arrest ORPHA:20
Acute Adrenal Insufficiency
Hypovolemia, Orthostatic hypotension, Hypotension, Myocardial infarction ORPHA:95409
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Lethargy ORPHA:137675
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neonatal alloimmune thrombocytopenia, Cardiomega... ORPHA:51
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hypotension ORPHA:199299
Bohring-Opitz Syndrome
Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology ORPHA:97297
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Hellp Syndrome
Cerebral hemorrhage, Hypotension, Internal hemorrhage ORPHA:244242
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Neuroendocrine Neoplasm Of Appendix
Palpitations, Tricuspid stenosis, Hypotension, Heart murmur ORPHA:100079
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Tropical Endomyocardial Fibrosis
Eosinophilia, Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Res... ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Prolactinoma
Hypotension ORPHA:2965
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolonged QT interval, ... ORPHA:466650
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Tsh-Secreting Pituitary Adenoma
Congestive heart failure, Hypotension, Ventricular arrhythmia, Hypertension, Palpitations, Suprav... ORPHA:91347
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia OMIM:256040
Beckwith-Wiedemann Syndrome
Enlarged kidney, Pancreatic hyperplasia, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:130650
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Hypovolemia, Hypotension, Capillary leak, Pericarditis, Bradycardia, ... ORPHA:99826
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Visceromegaly, Polycyth... ORPHA:116
Hepatocellular Carcinoma
Portal hypertension, Hypotension, Budd-Chiari syndrome, Internal hemorrhage ORPHA:88673
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Palpitations, Prolonged QT inte... ORPHA:358
Leptospirosis
Subconjunctival hemorrhage, Arrhythmia, Retinal hemorrhage, First degree atrioventricular block, ... ORPHA:509
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Hypovolemia, Hypotension ORPHA:275761
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Tetralogy of Fallot, Dysmetria, Atrial septal ... ORPHA:904
Addison Disease
Orthostatic hypotension, Hypotension ORPHA:85138
Singleton-Merten Syndrome 1
Aortic valve stenosis, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve calc... OMIM:182250
Acute Liver Failure
Shock, Hypotension, Intracranial hemorrhage, Gastrointestinal hemorrhage ORPHA:90062
Yunis-Varon Syndrome
Tetralogy of Fallot, Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Cardiomegaly ORPHA:3472
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Hypotension ORPHA:90794
Plague
Tachycardia, Hypotension, Hematemesis, Arrhythmia ORPHA:707
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Myocardial calcification, Pericardial effusion, Ventricular hypertrophy ORPHA:51608
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure OMIM:601678
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure OMIM:241200

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 Arhgef12

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 Arhgef12.

No publications found that use IMPC mice or data for Arhgef12.

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MGI Allele Allele Type Produced
Arhgef12tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Arhgef12tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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