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Gene: Adgrg6 MGI:1916151

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
adhesion G protein-coupled receptor G6
Synonyms:
DREG,  Gpr126,  1190004A11Rik,  LOC215798

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Adgrg6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Adgrg6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lethal Congenital Contracture Syndrome 9
Joint contracture of the hand, Congenital contracture, Talipes equinovarus, Wrist flexion contrac... OMIM:616503

The table below shows human diseases predicted to be associated to Adgrg6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Barth Syndrome
Abnormal mitochondrial morphology, Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Decreased activity of mitochondrial complex IV, Hypert... OMIM:616500
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Decreased activity of mitochondrial compl... OMIM:613642
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial ATP synthase complex, Decreased ... OMIM:618378
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Mit... OMIM:602541
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Decreased activity of mitochondrial com... OMIM:500013
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Mitochondrial swelling, Lower limb muscle weaknes... ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Decreased activity of mitochondrial complex I, Decreased activity... OMIM:615917
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Pulmonary arter... ORPHA:422
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Mitochondrial swelling, Decreased activity of mitochondrial complex I,... OMIM:618250
Neuropathy, Congenital Hypomyelinating, 2
Sensory ataxia, Decreased motor nerve conduction velocity, Hypokinesia, Inability to walk, Facial... OMIM:618184
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Skeletal muscle autophagos... OMIM:619518
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Decreased activity of mitochondrial ... OMIM:616501
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Spinocerebellar Ataxia Type 27
Sensory axonal neuropathy, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturban... ORPHA:98764
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Decreased mitochondrial number, Multiple joint contractures, Myopathy ORPHA:352470
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Abnormal myelination ORPHA:401840
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Macroglossia ORPHA:412217
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch... ORPHA:99013
Arnold-Chiari Malformation Type I
Abnormality of the eleventh cranial nerve, Myelopathy, Somatic sensory dysfunction, Cranial nerve... ORPHA:268882
Arthrogryposis Multiplex Congenita 6
Akinesia, Arthrogryposis multiplex congenita, Neonatal death OMIM:619334
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... OMIM:613641
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Skeletal muscle atr... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Delayed CNS myelination, Ataxia, Progressive cerebellar ataxia OMIM:607454
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction ORPHA:431329
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Akinesia, Truncal ataxia, Optic disc pallor, Optic neuropathy, Choreoathetosis OMIM:618249
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Abnormal cranial nerve morphology, Abnormal autonomic nerv... ORPHA:247234
Fetal Akinesia Deformation Sequence
Hypokinesia, Camptodactyly of finger, Intrauterine growth retardation, Akinesia, Multiple joint c... ORPHA:994
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Intrauterine growth retardation, Akinesia, Hydrocephalus, Joint contracture OMIM:225790
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Abnormality of the mitochondrion, Myopathy ORPHA:91130
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... OMIM:619167
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Congenital Myopathy 9A
Short stature, Akinesia OMIM:618822
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Abnormal autonomic nervous system physiology OMIM:300894
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Oligohydramnios, Decreased activity of mitochondrial complex I, S... OMIM:615578
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Akinesia, Increased susceptibility to fractures, Vertebral fusio... OMIM:253290
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Hypertrophic cardiomyopat... OMIM:302060
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Fumarase Deficiency
Ascites, Perimembranous ventricular septal defect, Polyhydramnios, Mitochondrial swelling OMIM:606812
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Kufor-Rakeb Syndrome
Hypokinesia, Akinesia, Distal sensory impairment, Gait disturbance, Ataxia OMIM:606693
Fetal Akinesia Syndrome, X-Linked
Hypokinesia, Stillbirth OMIM:300073
Lethal Congenital Contracture Syndrome 2
Akinesia, Arthrogryposis multiplex congenita OMIM:607598
Corticobasal Syndrome
Akinesia, Gait disturbance, Somatic sensory dysfunction ORPHA:454887
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Parkinson Disease 17
Akinesia OMIM:614203
Congenital Myopathy 12
Camptodactyly, Joint contracture of the hand, Jaw contracture, Akinesia OMIM:612540
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Hypokinesia, Ataxia OMIM:620007
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Intermediate Nemaline Myopathy
Hypokinesia, Difficulty walking, Facial diplegia, Multiple prenatal fractures, Flexion contractur... ORPHA:171433
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Superficial Siderosis
Impaired pain sensation, Abnormality of the vestibulocochlear nerve, Impaired temperature sensati... ORPHA:247245
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Spastic gait, Abnormal myelination ORPHA:401820
Arthrogryposis Multiplex Congenita 5
Growth delay, Elbow flexion contracture, Akinesia, Intrauterine growth retardation, Limitation of... OMIM:618947
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Hypokinesia OMIM:605407
Gaucher Disease, Perinatal Lethal
Hypokinesia, Intrauterine growth retardation, Akinesia, Neonatal death, Arthrogryposis multiplex ... OMIM:608013
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Abnormal autonomic nervous system physiology OMIM:616840
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Postencephalitic Parkinsonism
Akinesia, Paresthesia, Diminished movement ORPHA:97349
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Growth delay, Delayed skeletal maturation OMIM:619147
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric... ORPHA:90308
Manganese Poisoning
Akinesia, Gait disturbance ORPHA:306682
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Shuffling gait, Gliosis, Akinesia ORPHA:411602
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Developmental And Epileptic Encephalopathy 37
Chorea, Gait disturbance, Choreoathetosis, Hypokinesia OMIM:616981
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Hypokinesia ORPHA:238329
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Dysdiadochokinesis, Hypokinesia OMIM:609161
Aceruloplasminemia
Chorea, Limb ataxia, Gait ataxia, Akinesia, Ataxia ORPHA:48818
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Falls ORPHA:240071
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Peripheral edema, Mitral regurgitation, Pul... ORPHA:75249
Combined Oxidative Phosphorylation Deficiency 1
Intrauterine growth retardation, Delayed myelination, Hypokinesia OMIM:609060
Spinocerebellar Ataxia Type 12
Hypokinesia, Limb dysmetria, Gait disturbance, Ataxia, Unsteady gait ORPHA:98762
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Facial palsy, Hypokinesia, Ataxia OMIM:614707
Dpagt1-Cdg
Optic atrophy, CNS hypomyelination, Inability to walk, Akinesia, Diffuse optic disc pallor, Ataxi... ORPHA:86309
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Combined Oxidative Phosphorylation Deficiency 6
Hypokinesia OMIM:300816
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination, Occipital encephalocele, Hydrocephalus ORPHA:352682
Congenital Fibrinogen Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... ORPHA:335
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Congenital contracture, Hypokinesia OMIM:615042
Muscular Hypertonia, Lethal
Hypokinesia OMIM:254120
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Huntington Disease-Like 1
Hypokinesia, Chorea, Gait ataxia, Dysmetria, Gait disturbance, Gliosis ORPHA:157941
Intellectual Developmental Disorder, Autosomal Dominant 56
Broad-based gait, Hypokinesia, Inability to walk, Delayed CNS myelination, Ataxia, Delayed myelin... OMIM:617854
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Delayed CNS myelination, Hypokinesia, Ataxia OMIM:616211
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Astrocytosis, Gait imbalance, Gliosis OMIM:601104
Combined Oxidative Phosphorylation Deficiency 2
Hypokinesia, Neonatal death OMIM:610498
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Bradycardia, Polyhydramnio... OMIM:232500
Supranuclear Palsy, Progressive, 2
Akinesia, Gait imbalance, Falls, Gliosis OMIM:609454
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Akinesia, Gait disturbance, Ataxia, Choreoathetosis OMIM:234200
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Diminished movement ORPHA:240103
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Increased skull ossification ORPHA:85179
Mercaptolactate-Cysteine Disulfiduria
Hypokinesia OMIM:249650
Myopathy, Centronuclear, X-Linked
Flexion contracture, Facial palsy, Hydrocephalus, Hypokinesia OMIM:310400
Autosomal Recessive Dopa-Responsive Dystonia
Gait ataxia, Hypokinesia, Ataxia ORPHA:101150
German Syndrome
Limitation of joint mobility, Hypokinesia, Camptodactyly of finger, Short stature, Arthrogryposis... ORPHA:2077
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Typical Nemaline Myopathy
Hypokinesia, Facial diplegia, Gait disturbance, Flexion contracture, Facial palsy, Arthrogryposis... ORPHA:171436
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Dystonic gait, Cerebral hypomyelination, Gliosis, Ataxia, ... ORPHA:280210
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Huntington Disease
Hypokinesia, Difficulty walking, Inability to walk, Chorea, Gait imbalance, Gait disturbance ORPHA:399
Severe Congenital Nemaline Myopathy
Hypokinesia, Facial diplegia, Multiple prenatal fractures, Flexion contracture, Facial palsy, Art... ORPHA:171430
African Trypanosomiasis
Myelopathy, Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Gait disturba... ORPHA:3385
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Infantile Dystonia-Parkinsonism
Chorea, Hypokinesia ORPHA:238455
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Ataxia, Short stature, Unsteady gait, Abnormal myelination ORPHA:442835
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Hypokinesia, Delayed skeletal maturation, Postnatal growth retar... OMIM:613320
Hypermanganesemia With Dystonia 2
Tip-toe gait, Hypokinesia, Inability to walk, Scissor gait, Gait disturbance, Achilles tendon con... OMIM:617013
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Aromatic L-Amino Acid Decarboxylase Deficiency
Short stature, Hypokinesia, Joint contracture ORPHA:35708
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Tricu... OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Cervical C2/C3 vertebral fusion, Talipes equinovarus, Camptodactyly, Abnorma... OMIM:617333
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Hypokinesia, Gait ataxia, Substantia nigra gliosis, Loss of ambulation, Gait dist... OMIM:600116
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... OMIM:300967
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Alg11-Cdg
Delayed myelination, Hypokinesia, Ataxia ORPHA:280071
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Hypokinesia, Loss of ambulation, Gait disturbance, Gliosis OMIM:168601
Poliomyelitis
Stiff neck, Inability to walk, Abnormal motor nerve conduction velocity, Paresthesia, Diminished ... ORPHA:2912
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Joint contracture of the hand, Sensory axonal neuropathy, Somatic s... ORPHA:466768
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... OMIM:618280
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... ORPHA:244242
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Ascites, Bundle branch bloc... ORPHA:99827
Alg9-Cdg
Hypoplasia of the musculature, Abnormal heart morphology, Tricuspid regurgitation, Ventricular se... ORPHA:79328
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypokinesia, Inability to walk, Astrocytosis, Flexion contracture, Facial palsy ORPHA:258
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Tarsal sclerosis, Delayed skeletal maturation, Inability to walk, Sclerosis of fin... ORPHA:404454
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Choreoathetosis, Diminished movement OMIM:608643
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Vestibular schwannoma, Abnormal cranial nerve morphology, Scle... ORPHA:252164
Autosomal Dominant Progressive External Ophthalmoplegia
Hypokinesia, Gait ataxia, Facial diplegia, Peripheral axonal neuropathy, Gait disturbance, Ataxia... ORPHA:254892
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short stature, Abnormal myelination ORPHA:289266
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech... ORPHA:340
Isolated Posterior Meningocele
Hypokinesia, Difficulty walking, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meni... ORPHA:268810
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Congenital diaphragmatic hernia, Neonatal death, Hypoplasia of the diaph... OMIM:614437
Monosomy 18Q
Delayed skeletal maturation, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Hydrocepha... ORPHA:1600
Wilson Disease
Hypokinesia, Mixed demyelinating and axonal polyneuropathy, Osteomalacia, Decreased nerve conduct... OMIM:277900
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Capil... ORPHA:99826
Cockayne Syndrome Type 3
Difficulty walking, Astrocytosis, Mild postnatal growth retardation, Abnormality of peripheral ne... ORPHA:90324
Full Nf2-Related Schwannomatosis
Hyperesthesia, Myelopathy, Somatic sensory dysfunction, Peripheral schwannoma, Bilateral vestibul... ORPHA:637
Hyperekplexia 1
Hypokinesia OMIM:149400
Rat-Bite Fever
Septic arthritis, Oligoarthritis, Arthritis, Diminished movement ORPHA:31205
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Abnormal CNS myelination, Tracheomalacia, Inability to walk, Hydrocephalus, Glio... OMIM:620371
Schwannomatosis, Vestibular
Neurofibroma, Bilateral vestibular schwannoma, Peripheral schwannoma, Vestibular schwannoma, Unil... OMIM:101000
Shwachman-Diamond Syndrome 1
Steatorrhea, Myocardial necrosis OMIM:260400
Viss Syndrome
Coronary sinus enlargement, Umbilical hernia, Right ventricular hypertrophy, Mitral valve prolaps... OMIM:619472
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Delayed skeletal maturation ORPHA:67045
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Difficulty walking, Astrocytosis, Gait disturbance, Truncal ataxia, Abnormal myelination, Dysdiad... ORPHA:309854
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Yellow Fever
Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Bradycardia, Excessive blee... ORPHA:99829
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Facial palsy, Cerebral edema ORPHA:68
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hypertension, Internal hemorrhage ORPHA:805
Degcags Syndrome
Osteopenia, Toe syndactyly, Short thumb, Tracheomalacia, Preaxial hand polydactyly, Delayed skele... OMIM:619488
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Bruising susceptibility, Abnormal heart valve morphology, Transient ischemic a... ORPHA:286
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Broad hallux, Deviation of the hallux, Duplication of phalanx of hall... ORPHA:434179
Lethal Congenital Contracture Syndrome 9
Joint contracture of the hand, Congenital contracture, Talipes equinovarus, Wrist flexion contrac... OMIM:616503

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 Adgrg6

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 Adgrg6.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Adhesion GPCR Gpr126 (Adgrg6) Expression Profiling in Zebrafish, Mouse, and Human Kidney. Cells (August 2023) Adgrg6tm1a(EUCOMM)Hmgu PMC10417176
Gpr126 (Adgrg6) is expressed in cell types known to be exposed to mechanical stimuli. Annals of the New York Academy of Sciences (June 2019) Adgrg6tm1a(EUCOMM)Hmgu 31215653

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Adgrg6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adgrg6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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