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Gene: Arhgef16 MGI:2446219

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Gene Summary

Name:
Rho guanine nucleotide exchange factor 16
Synonyms:
Neuroblastoma

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased bone mineral content Arhgef16em1(IMPC)Mbp HOM Early adult 4.94×10-05
enlarged heart Arhgef16em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Arhgef16em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Arhgef16em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Arhgef16em1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Arhgef16em1(IMPC)Mbp HOM Early adult 8.74×10-12

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Viewing: all phenotypes

lacZ Expression

Expression data not available

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 Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Arhgef16 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 Arhgef16 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... OMIM:615382
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... ORPHA:85445
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... ORPHA:66624
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Meckel Syndrome, Type 8
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly ORPHA:88643
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... OMIM:314390
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Aggr... OMIM:252920
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Craniosynostosis, Macroscopic hematuria, P... ORPHA:251004
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... OMIM:608978
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... OMIM:208540
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome OMIM:269920
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... OMIM:232200
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Osteoporosis, Nephrolithiasis, Focal segmental glomerulo... OMIM:232220
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dextrocardia, Coronar... OMIM:618280
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Osteolysis, Hepatosplenomegaly, Multiple renal cysts, Enlarge... ORPHA:464329
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... ORPHA:79328
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Rena... OMIM:276700
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... OMIM:256550
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Thicke... OMIM:253250
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Abnormal heart morphology, Hepatosplenomegaly, N... ORPHA:505248
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Hyperparathyroidism, Transient Neonatal
Osteopenia, Unilateral renal agenesis, Subperiosteal bone formation, Enlarged kidney OMIM:618188
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
H Syndrome
Abnormality of the kidney, Osteolysis, Hepatosplenomegaly, Micropenis, Enlarged kidney ORPHA:168569
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysph... OMIM:615873
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hy... OMIM:252500
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Abnormal concentration of acy... ORPHA:391428
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... OMIM:212140
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Igg4-Related Kidney Disease
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... ORPHA:449395
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardio... OMIM:616897
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... ORPHA:500095
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cardiomyopathy OMIM:235200
Ogden Syndrome
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... OMIM:300855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Proteinuria, Osteoporosis, Stage 5 chronic kidney disease, Nephrolithia... ORPHA:79259
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... OMIM:239850
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Beck-Fahrner Syndrome
Depression, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly OMIM:618798
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... ORPHA:731
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... ORPHA:116
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly OMIM:255120
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly ORPHA:42
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... ORPHA:228308
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... OMIM:201475
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Depression, Cardiomegaly OMIM:619259
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly ORPHA:99931
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... ORPHA:508
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Increased urinary porphobilinogen, Agit... ORPHA:100924
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:363705
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... ORPHA:57777
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D... OMIM:312870
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria OMIM:603903
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Dysphagia, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Hyperactivity, Cardiomegaly, Heparan sulfate excretion i... ORPHA:581
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cardiomyopathy ORPHA:465508
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Osteoporosis, Cardiomegaly ORPHA:1517
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Osteoporosis, Mitral valve pro... OMIM:245600
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis OMIM:614921
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... ORPHA:308552
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Cardiomegaly ORPHA:2463
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia OMIM:608013
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hyperactivity, Bicuspid aortic valve, Ventricular septal defe... ORPHA:353281
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy ORPHA:79330
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inappropriate laughter, Cardiomegaly OMIM:618143
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:232300
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria OMIM:230000
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial... ORPHA:904
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Irritability OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Osteoporosis, Oligosacchariduria, Dysphagia, Left ventricular hypertr... ORPHA:365
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... OMIM:300967
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Abnorma... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Abnorma... ORPHA:353277
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Renal cyst, Cardiomegaly ORPHA:137675
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Osteomalacia, Cardiomegaly, Pericardial effusion, Myo... ORPHA:51608
Bohring-Opitz Syndrome
Nephroblastoma, Abnormal cardiac septum morphology, Urinary retention, Cardiomegaly ORPHA:97297
Abetalipoproteinemia
Osteopenia, Hepatomegaly, Cardiomegaly ORPHA:14
Liver Disease, Severe Congenital
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargem... OMIM:619991
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Micropenis, Irritability, Hypertrophic cardiomyopathy ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Yunis-Varon Syndrome
Absent sternal ossification, Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular h... ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Singleton-Merten Syndrome 1
Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... OMIM:182250
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:256040

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 Arhgef16

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 Arhgef16.

No publications found that use IMPC mice or data for Arhgef16.

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MGI Allele Allele Type Produced
Arhgef16em1(IMPC)Mbp Exon Deletion Mice, Tissue

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