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:
LOC215798,  1190004A11Rik,  DREG,  Gpr126

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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
Polyhydramnios, Myopathy, Abnormality of the diaphragm, Congenital contracture 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
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormal mitochondrial morphology ORPHA:111
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology, Hypertrophic c... OMIM:618378
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Decreased activity of mitochondrial complex III, Fiber type grouping,... OMIM:500013
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Steppage gait, Vestibular Schwannoma, Distal sensory impairment OMIM:613641
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Mitochondrial swelling, Myopathy, Fatty... ORPHA:397744
Barth Syndrome
Endocardial fibroelastosis, Skeletal myopathy, Abnormal mitochondrial morphology, Dilated cardiom... OMIM:302060
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology, Hypertrophic cardiomyopathy OMIM:300438
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy OMIM:609016
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Decreased activity of mitochondrial complex II, Flexio... OMIM:252011
Spinocerebellar Ataxia Type 27
Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance, Sensory... ORPHA:98764
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Decreased motor nerve conduction velocity, Facial diplegia, Hypokinesia OMIM:618184
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Flexion contracture, Hydranencephaly, Intrauterine growth retardation, Hydrocephalus OMIM:225790
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Flexion contracture, Ataxia, Optic atrophy OMIM:616881
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Loss of ability to walk, Blepharospasm, Unsteady gait, Falls, Short stepped shuffling g... ORPHA:240094
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Developmental And Epileptic Encephalopathy 28
Hypokinesia, Optic atrophy, Delayed myelination OMIM:616211
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Bradykinesia, Short stepped shuffling gait, S... ORPHA:391411
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Decreased activity of mitochondrial complex IV, Patent ductus arteriosus, Left ventricular noncom... OMIM:616501
Spinocerebellar Ataxia 21
Dystonia, Gait ataxia, Delayed CNS myelination, Akinesia, Limb ataxia, Ataxia, Progressive cerebe... OMIM:607454
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Limb-girdle muscle weakness, Multiple joint contractures, Decreased mitochondrial number ORPHA:352470
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Pedal edema, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Ri... ORPHA:422
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Ventricular hypertrophy, Decreased muscle mass, Cardiomyocyte hyper... ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Arthrogryposis Multiplex Congenita 6
Neonatal death, Arthrogryposis multiplex congenita, Akinesia OMIM:619334
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Decreased activity of mitochondrial ATP synthase complex, Hypertrophic cardiomyopathy OMIM:614053
Corticobasal Syndrome
Dystonia, Akinesia, Gait disturbance, Bradykinesia, Somatic sensory dysfunction, Limb dystonia ORPHA:454887
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Decreased activity of the pyruvate dehydrogenase complex, Ventricular septal defect OMIM:616277
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Abnormal myelination, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Decreased activity of mitochondrial complex III, Incre... ORPHA:17
Arnold-Chiari Malformation Type I
Gait ataxia, Dysesthesia, Cranial nerve compression, Cervical C2/C3 vertebral fusion, Progressive... ORPHA:268882
Kufor-Rakeb Syndrome
Dystonia, Akinesia, Gait disturbance, Ataxia, Bradykinesia, Hypokinesia, Torticollis, Distal sens... OMIM:606693
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Arthrogryposis multiplex congenita, Akinesia, Hypokinesia, Multiple join... ORPHA:994
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Abnormal cranial nerve morphology, Akinesia, Abnormal autonomic ... ORPHA:247234
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Dystonia-Aphonia Syndrome
Macroglossia, Abnormal mitochondrial shape ORPHA:412217
Autosomal Dominant Cerebellar Ataxia
Dystonia, Impaired vibratory sensation, Akinesia, Chorea, Gait disturbance, Progressive cerebella... ORPHA:99
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Spastic gait ORPHA:401840
Salih Myopathy
Mitochondrial depletion, Flexion contracture, Centrally nucleated skeletal muscle fibers, Facial ... OMIM:611705
Spastic Paraplegia Type 7
Lower limb muscle weakness, Lower limb hypertonia, Abnormal mitochondrial morphology, Ragged-red ... ORPHA:99013
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Gait ataxia, Akinesia ORPHA:98773
Parkinson Disease 17
Akinesia, Bradykinesia OMIM:614203
Multiple Pterygium Syndrome, Lethal Type
Akinesia, Flexion contracture, Vertebral fusion, Increased susceptibility to fractures, Intrauter... OMIM:253290
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Short stature, Akinesia OMIM:618822
Lissencephaly Type Iii And Bone Dysplasia
Arthrogryposis multiplex congenita, Akinesia OMIM:601160
Intermediate Nemaline Myopathy
Arthrogryposis multiplex congenita, Difficulty walking, Flexion contracture, Hypokinesia, Facial ... ORPHA:171433
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Striatal Degeneration, Autosomal Dominant 1
Dysdiadochokinesis, Gait disturbance, Bradykinesia, Hypokinesia OMIM:609161
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Dilated cardiomyopathy, Myopathy, Weakness of f... ORPHA:352447
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Gait ataxia, Limb dystonia OMIM:605407
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Abnormal myelination, Flexion contracture, Optic atrophy OMIM:618324
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Akinesia, Blepharospasm, Bradykinesia, Falls, Gait imbalance ORPHA:240071
Myopathy, Congenital, Compton-North
Joint contracture of the hand, Camptodactyly, Akinesia OMIM:612540
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure, Edema, Dilated card... OMIM:605676
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Decreased activity of mitochondrial complex II, Neonatal death, Left vent... OMIM:619167
Manganese Poisoning
Gait disturbance, Dystonia, Akinesia, Bradykinesia ORPHA:306682
Arthrogryposis Multiplex Congenita 5
Dystonia, Arthrogryposis multiplex congenita, Akinesia, Growth delay, Camptodactyly, Flexion cont... OMIM:618947
Postencephalitic Parkinsonism
Paresthesia, Akinesia, Bradykinesia, Oculogyric crisis, Diminished movement ORPHA:97349
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve OMIM:601369
Chilblain Lupus 2
Vasculitis, Edema OMIM:614415
Fetal Akinesia Syndrome, X-Linked
Hypokinesia, Arrhinencephaly, Stillbirth OMIM:300073
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Abnormal mitochondrial morphology ORPHA:275872
Aceruloplasminemia
Dystonia, Gait ataxia, Akinesia, Limb ataxia, Chorea, Blepharospasm, Craniofacial dystonia, Ataxi... ORPHA:48818
Parkinson Disease 23, Autosomal Recessive Early-Onset
Limb dystonia, Abnormal autonomic nervous system physiology, Akinesia OMIM:616840
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Hypokinesia, Oculogyric crisis, Generalized dystonia... ORPHA:101150
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Akinesia, Orthostatic hypotension due to autonomic dysfunction, Bradykinesia, ... ORPHA:411602
Spinocerebellar Ataxia Type 12
Limb dysmetria, Gait disturbance, Ataxia, Bradykinesia, Hypokinesia, Unsteady gait ORPHA:98762
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Perry Syndrome
Bradykinesia, Dystonia, Akinesia, Short stepped shuffling gait OMIM:168605
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Brown-Vialetto-Van Laere Syndrome 2
Hypokinesia, Facial palsy, Ataxia, Optic atrophy OMIM:614707
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Delayed myelination, Difficulty walking, Gait disturbance,... ORPHA:255
Combined Oxidative Phosphorylation Deficiency 1
Hypokinesia, Delayed myelination, Intrauterine growth retardation OMIM:609060
Klippel-Trénaunay Syndrome
Atrial septal defect, Prolonged bleeding time, Hydrops fetalis, Gastrointestinal hemorrhage, Inte... ORPHA:90308
Superficial Siderosis
Dysdiadochokinesis, Impaired pain sensation, Paresthesia, Progressive gait ataxia, Limb ataxia, I... ORPHA:247245
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Null Syndrome
Inability to walk, Difficulty walking, Decreased nerve conduction velocity, Demyelinating periphe... ORPHA:280234
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Delayed skeletal maturation, Akinesia OMIM:619147
Gaucher Disease, Perinatal Lethal
Hypokinesia, Arthrogryposis multiplex congenita, Akinesia, Intrauterine growth retardation OMIM:608013
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Abnormal myelination, Spastic gait ORPHA:401820
Severe X-Linked Mitochondrial Encephalomyopathy
Hypokinesia, Sensory axonal neuropathy ORPHA:238329
Combined Oxidative Phosphorylation Deficiency 42
Decreased activity of mitochondrial complex III, Decreased circulating cortisol level, Decreased ... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Decreased activity of mitochondrial complex III, Decreased circulating cortisol level, Decreased ... OMIM:618835
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Diminished movement, Focal dystonia, Bradykinesia ORPHA:240103
Muscular Hypertonia, Lethal
Hypokinesia OMIM:254120
Combined Oxidative Phosphorylation Deficiency 6
Hypokinesia OMIM:300816
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Bicuspid aortic valve OMIM:613426
Congenital Disorder Of Glycosylation, Type Iu
Hypokinesia, Optic atrophy, Congenital contracture OMIM:615042
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval, Cardiomegaly, Mitral regurgitation OMIM:618052
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Supranuclear Palsy, Progressive, 1
Axial dystonia, Gliosis, Akinesia, Bradykinesia, Falls, Limb dystonia, Gait imbalance, Retrocollis OMIM:601104
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination, Optic atrophy, Hydrocephalus ORPHA:352682
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity, Optic a... OMIM:234200
German Syndrome
Hypokinesia, Arthrogryposis multiplex congenita OMIM:231080
Huntington Disease-Like 1
Gait ataxia, Gliosis, Chorea, Gait disturbance, Bradykinesia, Hypokinesia, Dysmetria ORPHA:157941
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Supranuclear Palsy, Progressive, 2
Axial dystonia, Gliosis, Akinesia, Bradykinesia, Falls, Gait imbalance, Retrocollis OMIM:609454
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Tachycardia, Gingival bleeding, Right ventricular hypertr... ORPHA:335
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Peripheral edema, Abnormal left ventricular function, Atrial fibrill... ORPHA:75249
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy, Decreased activity of the pyruvate dehydr... ORPHA:255241
Combined Oxidative Phosphorylation Deficiency 2
Hypokinesia, Lethargy OMIM:610498
Myopathy, Centronuclear, X-Linked
Hypokinesia, Flexion contracture, Hydrocephalus, Facial palsy OMIM:310400
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism, Abnormal mitral valve morphology ORPHA:1192
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Bradykinesia, Hypokinesia, Oculogyric crisis ORPHA:238455
Huntington Disease
Inability to walk, Dystonia, Difficulty walking, Chorea, Gait disturbance, Bradykinesia, Hypokine... ORPHA:399
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Rhabdomyo... ORPHA:449285
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion, Skeletal muscle atrophy ORPHA:330050
German Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Hypokinesia, Short stature, Limitati... ORPHA:2077
Mercaptolactate-Cysteine Disulfiduria
Hypokinesia OMIM:249650
Cowden syndrome 3
Abnormality of mitochondrial metabolism OMIM:615106
Myopathy With Lactic Acidosis, Hereditary
Increased intramyocellular lipid droplets, Decreased activity of mitochondrial complex III, Decre... OMIM:255125
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Arthrogryposis multiplex congenita, Edema, Ascites, Skeletal mus... OMIM:232500
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Gait disturbance, Flexion contracture, Hypokinesia, Facial pa... ORPHA:171436
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Abnormality of mitochondrial metabolism, Arthrogryposis multiplex congenita, Edema OMIM:615330
Severe Congenital Nemaline Myopathy
Arthrogryposis multiplex congenita, Flexion contracture, Hypokinesia, Facial palsy, Multiple pren... ORPHA:171430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Increased skull ossification ORPHA:85179
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Gliosis, Difficulty walking, Ataxia, Abnormal myelination, Cerebral hypomyelin... ORPHA:280210
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gliosis, Gait disturbance, Bradykinesia, Hypokinesia, Shuffling gait OMIM:168601
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Tricuspid regurgitation, Edema, Mitral stenosis, Tricuspid va... OMIM:212093
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Lissencephaly 8
Abnormal myelination, Optic atrophy OMIM:617255
Non-Specific Early-Onset Epileptic Encephalopathy
Difficulty walking, Ataxia, Abnormal myelination, Unsteady gait, Short stature, Optic atrophy, At... ORPHA:442835
Reticular Dysgenesis
Abnormality of mitochondrial metabolism, Dehydration ORPHA:33355
African Trypanosomiasis
Paresthesia, Akinesia, Difficulty walking, Gait disturbance, Papilledema, Somatic sensory dysfunc... ORPHA:3385
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Oculogyric crisis, Torticollis, Limb dystonia, Athetosis, Choreoathetosi... OMIM:608643
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Growth delay, Camptodactyly, Abnormal myelination, Short stature, Intrauterine growth retardation OMIM:617333
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Edema OMIM:180080
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Congestive heart failure, Edema, Bacterial endocarditis ORPHA:1054
Poliomyelitis
Inability to walk, Paresthesia, Abnormal motor nerve conduction velocity, Stiff neck, Diminished ... ORPHA:2912
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypokinesia, Delayed skeletal maturation, Short stature OMIM:613320
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormality of mitochondrial metabolism, Tetralogy of Fallot ORPHA:88639
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Abnormal heart morphology, Abnormality of the mitochondrion, Camptodactyly, Join... OMIM:214110
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Alg11-Cdg
Hypokinesia, Delayed myelination, Ataxia ORPHA:280071
Hsd10 Disease, Infantile Type
Abnormality of mitochondrial metabolism, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Abnormality of the extraocular muscles, Abnormality of the mitochondrion, ... ORPHA:298
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Abnormality of peripheral somatosensory evoked potentials, Flexion contracture... ORPHA:466768
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Autosomal Dominant Progressive External Ophthalmoplegia
Osteoporosis, Lethargy, Gait ataxia, Gait disturbance, Bradykinesia, Ataxia, Hypokinesia, Facial ... ORPHA:254892
Lymphatic Malformation 6
Polyhydramnios, Atrial septal defect, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites,... OMIM:616843
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Inability to walk, Flexion contracture, Hypokinesia, Facial palsy ORPHA:258
Hellp Syndrome
Internal hemorrhage, Hypotension, Pleural effusion, Cerebral hemorrhage, Pulmonary edema, General... ORPHA:244242
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Joint hypermobility, Dystonia, Delayed myelination, Gliosis, Sclerosis of fing... ORPHA:404454
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... OMIM:300967
Inhalational Anthrax
Hypotension, Internal hemorrhage ORPHA:247257
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Abnormality of mitochondrial metabolism, Oligohydramnios, Hypertrophic cardiomyopathy OMIM:614052
Benign Schwannoma
Abnormal cranial nerve morphology, Abnormality of peripheral nervous system electrophysiology, Sc... ORPHA:252164
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Abnormal myelination, Short stature ORPHA:289266
Posterior Meningocele
Difficulty walking, Occipital meningocele, Meningocele, Hypokinesia, Neural tube defect, Lipomyel... ORPHA:268810
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Hyperekplexia 1
Hypokinesia OMIM:149400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Dysdiadochokinesis, Dystonia, Truncal ataxia, Difficulty walking, Gait disturbance,... ORPHA:309854
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Rat-Bite Fever
Arthritis, Septic arthritis, Oligoarthritis, Diminished movement ORPHA:31205
Cockayne Syndrome Type 3
Astrocytosis, Difficulty walking, Flexion contracture, Demyelinating peripheral neuropathy, Mild ... ORPHA:90324
Friedreich Ataxia And Congenital Glaucoma
Mitochondrial malic enzyme reduced, Concentric hypertrophic cardiomyopathy, Muscular subvalvular ... OMIM:229310
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Tibialis atrophy, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Concentr... OMIM:302900
Danon Disease
Hypokinesia OMIM:300257
Friedreich Ataxia 2
Mitochondrial malic enzyme reduced, Concentric hypertrophic cardiomyopathy, Muscular subvalvular ... OMIM:601992
Visceral Steatosis, Congenital
Abnormal bleeding, Neonatal death, Myocardial steatosis OMIM:228100
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Abnormal left ventricular function, Tendon xanthomatosis, ... ORPHA:391665
Monosomy 18Q
Joint hypermobility, Growth delay, Delayed skeletal maturation, Abnormal myelination, Short statu... ORPHA:1600
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination, Delayed skeletal maturation, Short stature ORPHA:67045
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormality of mitochondrial metabolism, Predominantly lower limb lymphedema ORPHA:314404
Hepatocellular Carcinoma
Anasarca, Internal hemorrhage, Hypotension, Budd-Chiari syndrome, Pedal edema, Ascites, Portal hy... ORPHA:88673
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of mitochondrial metabolism OMIM:203700
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Abnormal myelination ORPHA:34527
Tuberous Sclerosis Complex
Hypertension, Cardiac rhabdomyoma, Internal hemorrhage ORPHA:805
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Internal hemorrhage, Renovascular hypertension, Abnormal heart valve morpholog... ORPHA:286
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179
Lethal Congenital Contracture Syndrome 9
Polyhydramnios, Myopathy, Abnormality of the diaphragm, Congenital contracture 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.

No publications found that use IMPC mice or data for Adgrg6.

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

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