Gene Summary

regulator of G-protein signaling 2

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tooth morphology Rgs2em1(IMPC)H HOM Early adult 9.68×10-07
decreased fasting circulating glucose level Rgs2em1(IMPC)H HOM Early adult 8.90×10-06

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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 Rgs2 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 Rgs2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Severe Primary Trimethylaminuria
Trimethylaminuria, Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low se... ORPHA:468726
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Plantar telangiectasia, Palmar telangiectasia OMIM:175850
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypertension, Stage 5 chronic kidney dis... OMIM:603965
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Retinal telangiectasia, Reduced delayed hypersensitivity OMIM:267900
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Focal Segmental Glomerulosclerosis 5
Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Focal segmental... OMIM:613237
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Hypertension, Renal insufficiency, Focal segmental glomerulosclerosis OMIM:607832
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Taurodontia OMIM:272700
Moyamoya Disease
Telangiectasia ORPHA:2573
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Nail-Patella-Like Renal Disease
Renal insufficiency, Hypertension, Microscopic hematuria, Proteinuria ORPHA:2613
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Hypertension, Renal insufficiency, Stage 5 chronic... OMIM:161900
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology, Type II diabetes mellitus ORPHA:3199
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Aortic dissection, Renovascular hypertension, Intermittent claudication, A... OMIM:135580
Iga Nephropathy, Susceptibility To, 2
Hematuria, Proteinuria, Nephritis, Hypertension, Stage 5 chronic kidney disease OMIM:613944
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Iga Nephropathy, Susceptibility To, 3
Stage 5 chronic kidney disease, Hypertension, Hematuria, Proteinuria OMIM:616818
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Anxiety, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Dou... OMIM:618780
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Abnormal left... OMIM:132900
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Abnorma... ORPHA:229
Distal Trisomy 14Q
Aplasia/Hypoplasia of the corpus callosum, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia OMIM:603284
Aorto-Ventricular Tunnel
Aortic root aneurysm, Congestive heart failure, Abnormal coronary artery morphology, Heart murmur... ORPHA:3400
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Abnormal fear/anxiety-related behavior, Enuresis, Emotional lability, Irritability, Separation in... ORPHA:66624
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... OMIM:265800
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Hypertension, Microscopic h... OMIM:601894
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Encephalomalacia, ... ORPHA:231160
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Diabetic ketoacidosis, Hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Insulin... OMIM:262190
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Cardiomyopathy, Hypertension, Renal insufficiency, Abnormal aortic morphology ORPHA:3222
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79405
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hydronephrosis, Increased circulating ... ORPHA:449400
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal corpus callosum morphology, Perisylvian polymicrogyria, Ante... ORPHA:280195
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth ORPHA:3145
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal aortic arch morphology, Patent ductus arteriosus, Congestive heart failure, Anomalous pu... ORPHA:860
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Microcephaly, Cerebral cortical atrophy, Abnormality of the pulmonary artery... ORPHA:1166
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Aortic valve stenosis, Coarctation of aorta OMIM:615779
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Aggressive behavior, Coarctation of aorta ORPHA:261243
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Hypertension, Renal insuffi... OMIM:618061
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Cerebral cortical hemiatrophy, Agenesis of corpus callosum, Aortic regurgita... ORPHA:96147
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia OMIM:600666
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Congenital Heart Defects, Multiple Types, 6
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta, Pulmonic sten... OMIM:613854
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Aortic regurgit... ORPHA:91387
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Atrial fibrillation, Thoracic aortic aneurysm OMIM:616166
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary artery vasocon... OMIM:178600
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Microcephaly, Transposition o... OMIM:612474
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Patent ductus arteriosus, Atrial arrhythmia, Double outlet r... ORPHA:1330
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Micropenis, Self-injurious behavior, Anxiety, Coarctation of aorta, ... OMIM:618929
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Tricuspid Atresia
Persistent left superior vena cava, Pulmonary artery atresia, Coarctation of aorta, Transposition... ORPHA:1209
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Anxiety, Aggressive behavior, Pulmonic stenosis, Coarctation of aorta, ... ORPHA:284169
Diabetic Embryopathy
Tetralogy of Fallot, Ureteral duplication, Micropenis, Hydronephrosis, Aplasia/Hypoplasia of the ... ORPHA:1926
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Pulmonary arterial hypertension, Dilatation o... OMIM:613834
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Self-injurious behavior, Coarctatio... ORPHA:261183
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Abnormal left ventricular function, Cerebral artery atherosclerosis, ... ORPHA:391665
Kleefstra Syndrome
Renal cyst, Tetralogy of Fallot, Agenesis of corpus callosum, Arrhythmia, Micropenis, Hydronephro... ORPHA:261494
Cardiac Diverticulum
Premature ventricular contraction, Pulmonary artery hypoplasia, Mitral stenosis, Ventricular fibr... ORPHA:1686
Aortic Arch Interruption
Truncus arteriosus, Systolic heart murmur, Aortic regurgitation, Congestive heart failure, Shock,... ORPHA:2299
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:613426
Scimitar Syndrome
Tetralogy of Fallot, Pulmonary artery hypoplasia, Congestive heart failure, Patent ductus arterio... ORPHA:185
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Aortic regurgitation, Coarctation of aorta, He... ORPHA:402075
Conotruncal Heart Malformations
Double outlet right ventricle, Transposition of the great arteries, Coarctation of aorta, Truncus... OMIM:217095
Velocardiofacial Syndrome
Tetralogy of Fallot, Mood swings, Impaired T cell function, Aggressive behavior, Microcephaly, Pu... OMIM:192430
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Microcephaly, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Buschke-Ollendorff Syndrome
Abnormal aortic morphology, Hypertension, Renal insufficiency ORPHA:1306
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Arterial Tortuosity Syndrome
Aortic regurgitation, Generalized arterial tortuosity, Telangiectases of the cheeks, Hypertension... OMIM:208050
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, First degree atrioventricular block, At... ORPHA:392
Alport Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Tubulointerstitial fibrosis, Aortic aneurysm, Nephrit... ORPHA:63
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Microcephaly, Pulmona... ORPHA:251071
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hear... ORPHA:3426
Methimazole Embryofetopathy
Abnormal aortic morphology, Hypospadias, Coarctation of aorta ORPHA:1923
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Agenesis of corpus callosum, Patent ductus arteriosus, Coarctation of aorta, Microcep... OMIM:617260
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure, Aortic root aneurysm, Hypertrop... ORPHA:3342
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Proteinuria, Hydronephrosis, Arteritis, Membranous nephrop... ORPHA:449395
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive... ORPHA:980
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hematuria, Acute kidney injury, Proteinuria, Glomerulon... ORPHA:90068
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Hydroureter OMIM:616559
Right Atrial Isomerism
Tetralogy of Fallot, Agenesis of corpus callosum, Total anomalous pulmonary venous return, Pulmon... OMIM:208530
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Small vessel vasculitis, Nephro... OMIM:600903
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Hydronephrosis, Renal hypoplasia... OMIM:601186
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Cerebral atrophy, Agenesis of corpus callosum, Subcortical cerebral atrop... ORPHA:2396
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Agenesis of corpus callosum, Hydronephrosis... ORPHA:2059
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Meacham Syndrome
Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Conotruncal defect, Crossed fuse... ORPHA:3097
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malfo... OMIM:175050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
EEG abnormality, Abnormal fear/anxiety-related behavior, Nephrolithiasis, Patent ductus arteriosu... ORPHA:353281
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Single coronary artery origin, Dextrotransposition of the great arterie... OMIM:619702
Meacham Syndrome
Enlarged kidney, Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, Scimitar anomal... OMIM:608978
Generalized Arterial Calcification Of Infancy
Cerebral calcification, Left ventricular systolic dysfunction, Abnormal retinal artery morphology... ORPHA:51608
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal c... OMIM:606519
Pagod Syndrome
Pulmonary artery hypoplasia, Arrhythmia, Sudden cardiac death, Multicystic kidney dysplasia, Micr... ORPHA:991
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Heterotaxy, Visceral, 5, Autosomal
Cerebral atrophy, Ureteral stenosis, Total anomalous pulmonary venous return, Ureteral duplicatio... OMIM:270100
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Microcephaly, Abnormal aortic morphology ORPHA:1001
Mucopolysaccharidosis Type 2
Arrhythmia, Peripheral arterial stenosis, Decreased nerve conduction velocity, Aggressive behavio... ORPHA:580
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, EEG abnormality, Hydronephrosis, Panic attack, Aggressive be... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, EEG abnormality, Hydronephrosis, Panic attack, Aggressive be... ORPHA:353277
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Tetralogy of Fallot, Right-to-left shunt, Pulmonary insufficiency, Patent ductus arteriosus, Hydr... OMIM:265380
Hardikar Syndrome
Hydroureter, Pyelonephritis, Portal hypertension, Patent ductus arteriosus, Hydronephrosis, Bladd... OMIM:301068
Meester-Loeys Syndrome
Mitral regurgitation, Dilatation of the cerebral artery, Pulmonary artery aneurysm, Aortic dissec... OMIM:300989
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Coarctation of aorta, Multicysti... ORPHA:1052
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal corpus callosum morphology, Arrhythmia, Peripheral arterial stenosis, Heparan sulfate ex... ORPHA:217093
Tetralogy of Fallot, Arrhythmia, Proteinuria, Panhypopituitarism, Aplasia/Hypoplasia of the corpu... ORPHA:2162
Loeys-Dietz Syndrome 3
Ascending aortic dissection, Abdominal aortic aneurysm, Patent ductus arteriosus, Thoracic aortic... OMIM:613795
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Bilateral superior vena cava, Horseshoe kidney, Total anomalous pulmonary venous... OMIM:306955
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Absent pulmonary artery, Patent ductus arteriosus, Micropenis, Coarctation o... OMIM:600460
Phace Syndrome
Tetralogy of Fallot, Agenesis of corpus callosum, Aortic root aneurysm, Cerebral arteriovenous ma... ORPHA:42775
Loeys-Dietz Syndrome
Cardiac arrest, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Aortic aneurysm... ORPHA:60030
Fanconi Anemia
Tetralogy of Fallot, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Microcephaly, Arterio... ORPHA:84
Mucopolysaccharidosis Type 2, Severe Form
Arrhythmia, Peripheral arterial stenosis, Heparan sulfate excretion in urine, Dermatan sulfate ex... ORPHA:217085
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Aortic regurgitation, Patent ductus arteriosus, Aortic dissection, Pul... ORPHA:284984
Congenital Total Pulmonary Venous Return Anomaly
Patent ductus arteriosus, Supracardiac total anomalous pulmonary venous connection, Mixed total a... ORPHA:99125
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, EEG abnormality, Chordee, Hydronephrosis, Abnormal hippocamp... ORPHA:261537
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Abnormality of T cell physiology, Hydronephrosis, Polycystic kidney dy... ORPHA:2237
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Hydronephrosis, Hypoplasia of penis, Multicystic kidney dysplasia, Abnormal ... ORPHA:1507


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 Rgs2

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 Rgs2.

No publications found that use IMPC mice or data for Rgs2.

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MGI Allele Allele Type Produced
Rgs2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rgs2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rgs2em1(IMPC)H Exon Deletion Mice
Rgs2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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