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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
Elbow extension contracture, Ulnar deviation of the hand, Ankylosis, Flexion contracture, Congeni... 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
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Cardiomyocyte mitoch... OMIM:616500
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction, Decreased activity of mitochondrial compl... OMIM:613642
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, In... OMIM:602541
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... ORPHA:457050
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... OMIM:500013
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Combined Oxidative Phosphorylation Deficiency 20
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Decreased activity of... OMIM:615917
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Mitochondrial swellin... OMIM:618250
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Flexion contracture, Ragged-red muscle fibers, Decreased activity of mito... OMIM:252011
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial comple... OMIM:616501
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia, Sensory... ORPHA:98764
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally... OMIM:619518
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Decreased mitochondrial number, Myopathy ORPHA:352470
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Pedal edema, Ri... ORPHA:422
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Abnormal myelination ORPHA:401840
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Stiff neck, Dysesthesia, Myelopathy, Cranial nerve compression, Abno... ORPHA:268882
Arthrogryposis Multiplex Congenita 6
Neonatal death, Arthrogryposis multiplex congenita, Akinesia OMIM:619334
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... OMIM:613641
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li... ORPHA:99013
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Increased mitochondrial number, Decreased muscle mass, Decreased muscle ... ORPHA:263297
Spinocerebellar Ataxia 21
Delayed CNS myelination, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activi... ORPHA:17
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Akinesia, Intrauterine growth retardation, ... ORPHA:994
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal autonomic nervous sys... ORPHA:247234
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia OMIM:618249
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Joint contracture OMIM:225790
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion ORPHA:91130
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Congenital Myopathy 9A
Short stature, Akinesia OMIM:618822
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology, Akinesia OMIM:300894
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... ORPHA:2041
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Akinesia, Flexion contracture, Increased susceptibility to fractures, Intrauter... OMIM:253290
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Decreased activity of mitochondrial complex II, Left ventricular noncompa... OMIM:619167
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... OMIM:615578
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Dilated cardiomyopathy, Myopathy, Gener... ORPHA:352447
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Distal sensory impairment, Gait disturbance, Hypokinesia OMIM:606693
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Hypokinesia OMIM:300073
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Corticobasal Syndrome
Somatic sensory dysfunction, Gait disturbance, Akinesia ORPHA:454887
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Skeletal myopathy, Endocardial fibroel... OMIM:302060
Parkinson Disease 17
Akinesia OMIM:614203
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Ataxia, Hypokinesia OMIM:620007
Congenital Myopathy 12
Jaw contracture, Joint contracture of the hand, Akinesia, Camptodactyly OMIM:612540
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Intermediate Nemaline Myopathy
Facial palsy, Multiple prenatal fractures, Flexion contracture, Facial diplegia, Difficulty walki... ORPHA:171433
Fumarase Deficiency
Ascites, Mitochondrial swelling, Perimembranous ventricular septal defect, Polyhydramnios OMIM:606812
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Superficial Siderosis
Ataxia, Impaired temperature sensation, Impaired pain sensation, Unsteady gait, Dysmetria, Abnorm... ORPHA:247245
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Difficulty walking, Abnormal myelination ORPHA:401820
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Akinesia, Flexion contracture, Elbow flexion contracture, Growth delay, Campto... OMIM:618947
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology, Akinesia OMIM:616840
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Gait ataxia OMIM:605407
Gaucher Disease, Perinatal Lethal
Akinesia, Neonatal death, Intrauterine growth retardation, Arthrogryposis multiplex congenita, Hy... OMIM:608013
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Delayed skeletal maturation, Akinesia OMIM:619147
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart... ORPHA:90308
Postencephalitic Parkinsonism
Diminished movement, Paresthesia, Akinesia ORPHA:97349
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Hereditary Late-Onset Parkinson Disease
Akinesia, Gliosis, Shuffling gait, Orthostatic hypotension due to autonomic dysfunction ORPHA:411602
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Hypokinesia OMIM:609161
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Developmental And Epileptic Encephalopathy 37
Choreoathetosis, Chorea, Gait disturbance, Hypokinesia OMIM:616981
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Hypokinesia ORPHA:238329
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Facial palsy, Ataxia, Hypokinesia OMIM:614707
Aceruloplasminemia
Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia ORPHA:48818
Combined Oxidative Phosphorylation Deficiency 1
Intrauterine growth retardation, Delayed myelination, Hypokinesia OMIM:609060
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Spinocerebellar Ataxia Type 12
Ataxia, Unsteady gait, Gait disturbance, Limb dysmetria, Hypokinesia ORPHA:98762
Combined Oxidative Phosphorylation Deficiency 6
Hypokinesia OMIM:300816
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Optic atrophy, Abnormal myelination ORPHA:352682
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... ORPHA:335
Dpagt1-Cdg
Ataxia, Akinesia, Inability to walk, Flexion contracture, Optic atrophy, Osteoporosis, CNS hypomy... ORPHA:86309
Developmental And Epileptic Encephalopathy 28
Delayed myelination, Optic atrophy, Hypokinesia OMIM:616211
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Optic atrophy, Hypokinesia OMIM:615042
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Muscular Hypertonia, Lethal
Hypokinesia OMIM:254120
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Intellectual Developmental Disorder, Autosomal Dominant 56
Delayed CNS myelination, Broad-based gait, Ataxia, Inability to walk, Delayed myelination, Hypoki... OMIM:617854
Huntington Disease-Like 1
Chorea, Dysmetria, Gait ataxia, Gait disturbance, Gliosis, Hypokinesia ORPHA:157941
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... ORPHA:860
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Hypokinesia OMIM:610498
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Cardiomyopa... OMIM:232500
Supranuclear Palsy, Progressive, 1
Akinesia, Astrocytosis, Gliosis, Falls, Gait imbalance OMIM:601104
Supranuclear Palsy, Progressive, 2
Gliosis, Falls, Gait imbalance, Akinesia OMIM:609454
Progressive Supranuclear Palsy-Corticobasal Syndrome
Diminished movement, Somatic sensory dysfunction ORPHA:240103
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Abnormal myelination ORPHA:85179
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Optic atrophy, Choreoathetosis, Gait disturbance OMIM:234200
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Mercaptolactate-Cysteine Disulfiduria
Hypokinesia OMIM:249650
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Flexion contracture, Facial palsy, Hypokinesia OMIM:310400
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Hypokinesia, Gait ataxia ORPHA:101150
German Syndrome
Short stature, Camptodactyly of finger, Limitation of joint mobility, Arthrogryposis multiplex co... ORPHA:2077
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Flexion contracture, Facial diplegia, Gait disturbance, Arthrogrypos... ORPHA:171436
Pelizaeus-Merzbacher Disease, Connatal Form
Short stature, Ataxia, Inability to walk, Dystonic gait, Gliosis, Difficulty walking, Abnormal my... ORPHA:280210
Huntington Disease
Inability to walk, Chorea, Gait disturbance, Gait imbalance, Difficulty walking, Hypokinesia ORPHA:399
Severe Congenital Nemaline Myopathy
Facial palsy, Multiple prenatal fractures, Flexion contracture, Facial diplegia, Arthrogryposis m... ORPHA:171430
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Akinesia, Myelopathy, Impaired proprioception, Choreoat... ORPHA:3385
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis ORPHA:1054
Infantile Dystonia-Parkinsonism
Chorea, Hypokinesia ORPHA:238455
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Short stature, Unsteady gait, Optic atrophy, Difficulty walking, Abnormal myelination ORPHA:442835
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short stature, Postnatal growth retardation, Delayed epiphyseal ossification, Delayed skeletal ma... OMIM:613320
Hypermanganesemia With Dystonia 2
Limb joint contracture, Inability to walk, Achilles tendon contracture, Scissor gait, Tip-toe gai... OMIM:617013
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Talipes equinovarus, Abnormal myelination, Cervical C2/C3 vertebral fusion, Joint ... OMIM:617333
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular... ORPHA:70591
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Tricuspid stenosis, Left atrial enlargement, ... OMIM:212093
Parkinson Disease 1, Autosomal Dominant
Gliosis, Gait disturbance, Shuffling gait, Loss of ambulation, Hypokinesia OMIM:168601
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Alg11-Cdg
Delayed myelination, Ataxia, Hypokinesia ORPHA:280071
Poliomyelitis
Stiff neck, Abnormal motor nerve conduction velocity, Diminished movement, Inability to walk, Par... ORPHA:2912
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Impaired vibratory sensation, Somatic ... ORPHA:466768
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... OMIM:616843
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, ... ORPHA:244242
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal d... OMIM:618280
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... OMIM:234700
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar... ORPHA:99827
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Inability to walk, Flexion contracture, Astrocytosis, Hypokinesia ORPHA:258
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Athetosis, Diminished movement OMIM:608643
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit... ORPHA:268810
Autosomal Dominant Progressive External Ophthalmoplegia
Peripheral axonal neuropathy, Ataxia, Facial palsy, Osteoporosis, Gait ataxia, Facial diplegia, G... ORPHA:254892
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Limb joint contracture, Inability to walk, Chorea, Delayed myelination, Optic ... ORPHA:404454
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short stature, Abnormal myelination ORPHA:289266
Wilson Disease
Osteomalacia, Hypokinesia, Decreased nerve conduction velocity, Hypoesthesia, Osteoarthritis, Ost... OMIM:277900
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... ORPHA:906
Monosomy 18Q
Arachnodactyly, Tapered finger, Hydrocephalus, Delayed skeletal maturation, Choreoathetosis, Tali... ORPHA:1600
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp... ORPHA:99826
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Mild postnatal growth retardation, Demyelinating... ORPHA:90324
Hyperekplexia 1
Hypokinesia OMIM:149400
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... ORPHA:252164
Rat-Bite Fever
Diminished movement, Arthritis, Oligoarthritis, Septic arthritis ORPHA:31205
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Delayed skeletal maturation, Abnormal myelination ORPHA:67045
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Truncal ataxia, Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Abnormal ... ORPHA:309854
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Yellow Fever
Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H... ORPHA:99829
Danon Disease
Hypokinesia OMIM:300257
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage, Cardiac rhabdomyoma ORPHA:805
Degcags Syndrome
Osteopenia, Syndactyly, Toe syndactyly, Craniosynostosis, Short thumb, Preaxial hand polydactyly,... OMIM:619488
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve mo... ORPHA:286
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Postaxial hand polydactyly, Duplication of phalanx of hall... ORPHA:434179
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Ankylosis, Flexion contracture, Congeni... 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

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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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