Gene: Arhgef12 MGI:1916882

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Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased prepulse inhibition Arhgef12tm1b(KOMP)Wtsi HET Early adult 2.06×10-07
enlarged heart Arhgef12tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal heart morphology Arhgef12tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal embryo size Arhgef12tm1b(KOMP)Wtsi HET E9.5 0.00
hypoactivity Arhgef12tm1b(KOMP)Wtsi HET Early adult 1.72×10-05
abnormal embryo size Arhgef12tm1b(KOMP)Wtsi HOM E9.5 0.00
decreased mean corpuscular volume Arhgef12tm1b(KOMP)Wtsi HET Early adult 6.74×10-06
preweaning lethality, incomplete penetrance Arhgef12tm1b(KOMP)Wtsi HOM   Early adult 0.00
embryonic growth retardation Arhgef12tm1b(KOMP)Wtsi HET E9.5 0.00
embryonic growth retardation Arhgef12tm1b(KOMP)Wtsi HOM E9.5 0.00
abnormal heart shape Arhgef12tm1b(KOMP)Wtsi HET Early adult 0.00

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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 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 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
Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Cardiomegaly OMIM:227150
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Hypotension, Tachycardia OMIM:236800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Lethargy, Cardiomegaly, Hepatomegaly OMIM:600649
Congenital Toxoplasmosis
Thrombocytopenia, Cardiomegaly, Anemia, Hepatomegaly ORPHA:858
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Dystonia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, ... OMIM:618278
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Cardiomegaly OMIM:619064
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Carnitine Deficiency, Systemic Primary
Lethargy, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Hyperactivity OMIM:252920
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Dysmetria, Splenomega... OMIM:256550
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Ataxia, Hepatomegaly, Fatigable weakness, Cardiomegaly, Fatigable weakness of neck muscles ORPHA:42
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Lethargy, Megaloblastic anemia, Spastic ataxia, Increased mean corpuscular volume OMIM:277410
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Truncal ataxia, Limb ataxia, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cardiomegaly, ... OMIM:619259
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Perry Syndrome
Hypotension ORPHA:178509
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Lethargy, Cardiomegaly OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Hypotension OMIM:616000
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valv... ORPHA:324410
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Hepatomegaly, Increased red cell sickling tendency, Cardiomegaly,... OMIM:603903
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Ataxia OMIM:266500
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Increased mean corpuscular... OMIM:612562
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Neuroendocrine Tumor Of The Colon
Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation, Melena, Facial tel... ORPHA:100080
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage ORPHA:79456
Methylcobalamin Deficiency Type Cble
Lethargy, Neutropenia, Pancytopenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Nipah Virus Disease
Hypotension ORPHA:99825
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Ataxia OMIM:105210
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Torticollis, Cardiomegaly, Overriding aorta OMIM:617022
Late-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556037
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage OMIM:263400
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Hsd10 Disease, Infantile Type
Dystonia, Loss of ability to walk, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Lethargy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Neuroendocrine Tumor Of The Rectum
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Palpitations, Right ventricular failure, Hematochezia, Hypotension, Tricuspid regurgitation, Mele... ORPHA:100082
Adult Acute Respiratory Distress Syndrome
Hypotension, Vasculitis, Shock ORPHA:70578
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Shwachman-Diamond Syndrome
Abnormal heart morphology, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Norm... ORPHA:811
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, D... OMIM:306955
Early-Onset Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension ORPHA:556030
Hypotension, Tachycardia ORPHA:79155
Beck-Fahrner Syndrome
Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect OMIM:618798
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Dengue Fever
Hypotension, Cerebral hemorrhage, Epistaxis, Gastrointestinal hemorrhage ORPHA:99828
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Ventricular septal defect, Dilated cardiomyopathy, Increased mean corpuscular v... ORPHA:261250
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Right ventricular failure, Hypotension, Tricuspid regurgitation,... ORPHA:97287
Gaucher Disease, Perinatal Lethal
Akinesia, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:608013
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Hypotension OMIM:618480
Complete Atrioventricular Septal Defect
Lethargy, Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatome... ORPHA:1329
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension OMIM:264350
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Ataxia OMIM:268800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Infant Botulism
Hypotension, Cardiac arrest, Hypertension ORPHA:178478
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy, Enlarged kidney, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy OMIM:608836
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Palpitations, Right ventricular failure, Hematemesis, Hypotension, Tricuspid r... ORPHA:100075
Hypotension, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin ORPHA:98292
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Gait ataxia, Reticulocytosis, Ataxia, Hepatomegaly, Cardiomegaly, Anemia, Acanthocytosis, Dysmetr... ORPHA:14
Familial Hypoaldosteronism
Hypotension, Orthostatic hypotension, Hypovolemia ORPHA:427
Scrub Typhus
Hypotension, Myocarditis ORPHA:83317
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230000
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Aa Amyloidosis
Hypotension ORPHA:85445
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Cardiomyopathy, Ventricular tachycardia ORPHA:159
Yellow Fever
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99829
Meningococcal Meningitis
Hypotension, Shock ORPHA:33475
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Necrotizing Enterocolitis
Hypotension, Bradycardia, Shock ORPHA:391673
Developmental And Epileptic Encephalopathy 95
Inability to walk, Gait disturbance, Ataxia, Hepatomegaly, Cardiomegaly OMIM:618143
Hepatomegaly, Cardiomegaly ORPHA:349
Mucopolysaccharidosis Type 3
Fatigable weakness of swallowing muscles, Abnormal mitral valve morphology, Gait disturbance, Abn... ORPHA:581
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Myocardial infarction, Myocarditis ORPHA:3452
Legionnaires Disease
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:549
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Congenital Enterovirus Infection
Hypotension, Cardiomyopathy, Myocarditis ORPHA:292
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Histiocytosis, Pulmonic stenosis, ... OMIM:602782
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Congenital Hypothyroidism
Hypotension, Arrhythmia, Hypertension ORPHA:442
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Lethargy, Atrial septal defect, Abnormal h... ORPHA:97214
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... ORPHA:31826
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Aggressive Systemic Mastocytosis
Hypotension, Portal hypertension, Gastrointestinal hemorrhage ORPHA:98850
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hematemesis, Hypotension,... ORPHA:100076
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock ORPHA:36238
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Glycogen Storage Disease Due To Acid Maltase Deficiency
Inability to walk, Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing mu... ORPHA:365
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Hypotension, Hypertension, Hypovolemic shock ORPHA:2912
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Bacterial Toxic-Shock Syndrome
Hypotension, Tachycardia, Shock, Myocarditis, Capillary leak ORPHA:36234
Beta-Ketothiolase Deficiency
Hypotension, Hypertension ORPHA:134
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension OMIM:174000
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Brad... ORPHA:94093
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:252500
Gitelman Syndrome
Hypotension, Palpitations, Prolonged QT interval, Ventricular tachycardia OMIM:263800
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Hypotension, Tachycardia, Hypovolemic shock ORPHA:173
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Ataxia, Right ventricular hypertrophy, Cardiomeg... OMIM:300967
Familial Glucocorticoid Deficiency
Hypotension, Hypertrophic cardiomyopathy ORPHA:361
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Syncope ORPHA:98849
Pituitary Apoplexy
Hypotension, Hypertension ORPHA:95613
Sepsis In Premature Infants
Hypotension, Tachycardia, Bradycardia ORPHA:90051
Aicardi-Goutières Syndrome
Dystonia, Difficulty walking, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Neona... ORPHA:51
Histiocytoid Cardiomyopathy
Hepatomegaly, Lethargy, Cardiomegaly, Ventricular septal defect ORPHA:137675
Greenberg Dysplasia
Hepatomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Cardiomegaly OMIM:215140
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Cardiac arrest ORPHA:20
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Hypertension ORPHA:93256
Bohring-Opitz Syndrome
Inability to walk, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Late-Onset Isolated Acth Deficiency
Hypotension, Orthostatic hypotension ORPHA:199299
Acute Adrenal Insufficiency
Hypotension, Myocardial infarction, Orthostatic hypotension, Hypovolemia ORPHA:95409
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Internal hemorrhage ORPHA:244242
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension ORPHA:293978
Non-Functioning Pituitary Adenoma
Hypotension ORPHA:91349
Alexander Disease
Sudden cardiac death, Hypotension, Hypertension ORPHA:58
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Heart murmur, Tricuspid stenosis ORPHA:100079
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Hypotension ORPHA:2965
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Hypertension, Con... ORPHA:91347
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Exercise-Induced Malignant Hyperthermia
Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abnormal T-wave, ... ORPHA:466650
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Thrombocytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Beckwith-Wiedemann Syndrome
Enlarged kidney, Polycythemia, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrop... ORPHA:116
Gitelman Syndrome
Palpitations, Low-to-normal blood pressure, ST segment depression, Prominent U wave, Abnormal T-w... ORPHA:358
Williams Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal endocardium morphology, Gait disturbanc... ORPHA:904
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, First de... ORPHA:509
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Hypovolemia ORPHA:289548
Addison Disease
Hypotension, Orthostatic hypotension ORPHA:85138
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Waddling gait, Cardiomegaly, Aortic valve calc... OMIM:182250
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Hypotension, Hypovolemia ORPHA:275761
Hepatocellular Carcinoma
Hypotension, Portal hypertension, Budd-Chiari syndrome, Internal hemorrhage ORPHA:88673
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy ORPHA:3472
Acute Liver Failure
Intracranial hemorrhage, Hypotension, Gastrointestinal hemorrhage, Shock ORPHA:90062
Hypotension, Arrhythmia, Tachycardia, Hematemesis ORPHA:707
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypotension, Hypovolemia, Shock ORPHA:90794
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Myocardial calcification ORPHA:51608
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure OMIM:601678
Bartter Syndrome, Type 2, Antenatal
Low-to-normal blood pressure OMIM:241200


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
Arhgef12tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Arhgef12tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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