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Gene: Rxrg MGI:98216

Gene Summary

Name:

retinoid X receptor gamma

Synonyms:

Nr2b3

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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased grip strength	Rxrg^Rxrg	HOM	Early adult	2.22×10^-06
decreased thermal nociceptive threshold	Rxrg^Rxrg	HOM	Early adult	4.22×10^-05
increased circulating cholesterol level	Rxrg^Rxrg	HOM	Early adult	9.28×10^-14
increased circulating triglyceride level	Rxrg^Rxrg	HOM	Early adult	3.25×10^-07
increased circulating HDL cholesterol level	Rxrg^Rxrg	HOM	Early adult	4.63×10^-14
abnormal bone mineralization	Rxrg^Rxrg	HOM	Early adult	1.04×10^-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rxrg 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.

Human diseases associated with Rxrg (0 diseases)
Human diseases predicted to be associated with Rxrg (318 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Thomsen And Becker Disease	Myotonia	ORPHA:614
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Rippling Muscle Disease 1	Muscle mounding, Percussion-induced rapid rolling muscle contractions	OMIM:600332
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Normokalemic Periodic Paralysis	Percussion myotonia	OMIM:170600
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Percussion myotonia, Myotonia, EMG: myotonic runs, Myotonia with warm-up pheno...	OMIM:160800
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency	Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi...	ORPHA:79506
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Fish-Eye Disease	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:136120
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Myotonia	OMIM:254950
Paramyotonia Congenita Of Von Eulenburg	Myotonia of the upper limb, Handgrip myotonia, Myotonia of the jaw, Percussion myotonia, Myotonia...	ORPHA:684
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Osteoporosis, Gout	OMIM:610947
Myotonia Congenita, Autosomal Recessive	Percussion myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up phenomenon	OMIM:255700
Muscular Dystrophy, Barnes Type	Myotonia	OMIM:158800
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ...	OMIM:144250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Paramyotonia Congenita Of Von Eulenburg	Paradoxical myotonia, Percussion myotonia, Handgrip myotonia	OMIM:168300
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:615703
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	OMIM:616516
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia	OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor...	OMIM:616000
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Rippling Muscle Disease 2	Muscle mounding, Percussion-induced rapid rolling muscle contractions	OMIM:606072
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Brody Disease	Percussion myotonia, Myotonia	OMIM:601003
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ...	OMIM:620058
Myotonia, Potassium-Aggravated	Percussion myotonia, Myotonia, Handgrip myotonia	OMIM:608390
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration...	OMIM:619868
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Myotonia Fluctuans	Myotonia of the upper limb, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the face, ...	ORPHA:99734
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Myotonia	ORPHA:371
Hypercholesterolemia, Familial, 3	Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:603776
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia	ORPHA:436182
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:607616
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem...	OMIM:207750
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Hypophosphatemic Bone Disease	Rickets, Hypophosphatemia, Osteomalacia	OMIM:146350
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Hypercholesterolemia, Increased C-peptide level	OMIM:620211
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina...	OMIM:616828
Hypobetalipoproteinemia, Familial, 1	Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest...	OMIM:615558
Hypokalemic Periodic Paralysis, Type 1	Myotonia	OMIM:170400
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia	ORPHA:181393
Hypercholanemia, Familial 1	Increased serum bile acid concentration, Steatorrhea, Rickets	OMIM:607748
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Joint hypermobility, Hypercholesterolemia	ORPHA:254531
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Hyperuricemia, Osteoporosis, Osteoarthritis, Hypercholesterolemia	ORPHA:77296
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:603552
Citrullinemia, Type Ii, Neonatal-Onset	Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci...	OMIM:605814
Temple Syndrome	Hypertriglyceridemia, Flexion contracture, Joint hypermobility, Hypercholesterolemia	OMIM:616222
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr...	OMIM:618620
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Hyperlipoproteinemia, Type I	Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent...	OMIM:238600
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:613101
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Myotonia With Skeletal Abnormalities And Mental Retardation	Myotonia	OMIM:255710
Bile Acid Conjugation Defect 1	Rickets, Conjugated hyperbilirubinemia	OMIM:619232
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Percussion myotonia	ORPHA:34516
Ataxia-Oculomotor Apraxia 4	Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia	OMIM:616267
Laron Syndrome	Osteoarthritis, Hypercholesterolemia	ORPHA:633
Acetazolamide-Responsive Myotonia	Myotonia	ORPHA:99736
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Joint hypermobility, Hypoalbuminemia	OMIM:619013
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin...	ORPHA:567548
Renal Tubular Acidosis Iii	Rickets, Hypokalemia, Osteomalacia	OMIM:267200
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:277460
Dysbetalipoproteinemia	Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Decreased HDL cholesterol co...	ORPHA:412
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Hypokalemia, Osteomalacia, Hypocalcemia, Elevated circulating creatinine con...	OMIM:179800
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:79085
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline	OMIM:603471
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Bone cyst, Increased C-peptide level, Hypercholesterolemia	ORPHA:528
Tangier Disease	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	OMIM:205400
Mandibuloacral Dysplasia	Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand...	ORPHA:2457
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Osteoporosis, Joint contracture	OMIM:615381
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia	OMIM:208920
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia	ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia...	ORPHA:247598
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thi...	OMIM:600785
Hyperlipoproteinemia, Type Id	Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD...	OMIM:615947
Citrullinemia Type Ii	Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip...	ORPHA:247585
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Osteomalacia, Increased susceptibility to fractures, Recurrent frac...	OMIM:146300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to...	ORPHA:98855
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia	OMIM:607765
Myopathy, X-Linked, With Excessive Autophagy	Myotonia	OMIM:310440
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ...	ORPHA:64753
Galactokinase Deficiency	Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia	ORPHA:79237
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia	OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia	ORPHA:363400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc...	OMIM:267700
Xp21 Deletion Syndrome	Reduced bone mineral density, Osteoporosis, Elevated circulating creatine kinase concentration, H...	ORPHA:261476
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Joint hypermobility, Hypercholesterolemia	ORPHA:96184
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Werner Syndrome	Elevated hemoglobin A1c, Reduced bone mineral density, Osteoporosis, Hypertriglyceridemia	OMIM:277700
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia	ORPHA:89937
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to...	ORPHA:98863
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to...	ORPHA:261
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia	ORPHA:435651
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ...	ORPHA:158057
Mandibuloacral Dysplasia With Type A Lipodystrophy	Camptodactyly, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalan...	OMIM:248370
Episodic Ataxia, Type 2	Myotonia	OMIM:108500
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemia, Pathologic fracture, Increased circulating beta-C...	ORPHA:157215
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest...	OMIM:278000
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Myotonia, Handgrip myotonia, Percussion-induced rapid rolling muscle contractions	ORPHA:324442
Sitosterolemia 1	Reduced haptoglobin level, Elevated circulating sitosterol concentration, Arthritis, Xanthelasma,...	OMIM:210250
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Rickets, Hypophosphatemia, Osteopenia	ORPHA:2088
Hypocalcemic Vitamin D-Resistant Rickets	Osteolysis, Hypophosphatemia, Osteomalacia, Coarse metaphyseal trabecularization, Bone cyst, Recu...	ORPHA:93160
Hypokalemic Periodic Paralysis	Myotonia	ORPHA:681
Fanconi Renotubular Syndrome 2	Rickets, Hypophosphatemia, Osteomalacia, Osteopenia, Recurrent fractures	OMIM:613388
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemia, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificatio...	OMIM:300554
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy...	OMIM:619662
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypocalcemia,...	OMIM:600081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypokalemia	OMIM:602722
Macrophage Activation Syndrome	Juvenile rheumatoid arthritis, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158061
Myofibrillar Myopathy 10	Percussion myotonia	OMIM:619040
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Osteoporosis, Osteopenia	ORPHA:369
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia, Joint stiffness	ORPHA:819
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Myotonia Permanens	Myotonia	ORPHA:99735
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Fanconi Renotubular Syndrome 3	Rickets, Elevated circulating creatinine concentration	OMIM:615605
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Megalocornea-Intellectual Disability Syndrome	Joint hyperflexibility, Hypercholesterolemia, Osteopenia	ORPHA:2479
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Hypophosphatemic rickets, ...	OMIM:241530
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co...	ORPHA:79240
Episodic Ataxia Type 1	Myotonia	ORPHA:37612
Megalocornea-Mental Retardation Syndrome	Hypercholesterolemia, Osteopenia	OMIM:249310
Zebra Body Myopathy	Handgrip myotonia	ORPHA:97240
Cholestasis, Progressive Familial Intrahepatic, 1	Rickets, Osteopenia, Conjugated hyperbilirubinemia	OMIM:211600
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Conjugated hyperbilirubinemia	OMIM:214900
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co...	ORPHA:264580
Fanconi Renotubular Syndrome 1	Rickets, Hypophosphatemia, Hypokalemia, Osteomalacia	OMIM:134600
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619313
Lipodystrophy, Congenital Generalized, Type 4	Osteoporosis, Osteopenia, Elevated circulating creatine kinase concentration, Hypertriglyceridemi...	OMIM:613327
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Osteoarthritis, Hypophosph...	OMIM:307800
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia	ORPHA:391307
Myotonic Dystrophy 1	Myotonia	OMIM:160900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypophosphatemia, Hypocalcemic seizures, Delayed epiphyseal ossification, Sparse bone tr...	OMIM:264700
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Alstrom Syndrome	Hypertriglyceridemia, Hyperostosis frontalis interna, Decreased HDL cholesterol concentration, Hy...	OMIM:203800
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Pathologic fracture, ...	ORPHA:470
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Hypokalemia	OMIM:611590
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Hypophosphatemia, Hypocalcemic seizures, Osteomalacia, Delayed epiphyseal ossification, ...	ORPHA:289157
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Unicameral bone cyst	ORPHA:79086
Infantile Systemic Hyalinosis	Camptodactyly of finger, Joint stiffness, Steatorrhea, Osteoporosis, Osteomalacia, Osteopenia, In...	ORPHA:2176
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ...	OMIM:603553
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	ORPHA:370
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Dent Disease 1	Rickets, Hypophosphatemia, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae,...	OMIM:300009
Vitamin D-Dependent Rickets, Type 2A	Rickets, Hypophosphatemia, Hypocalcemic seizures, Delayed epiphyseal ossification, Sparse bone tr...	OMIM:277440
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Flexion contracture, Arthritis	OMIM:617591
Disorder Of Bile Acid Synthesis	Rickets	ORPHA:79168
Myotonic Dystrophy 2	Myotonia, Handgrip myotonia	OMIM:602668
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Richieri Costa-Da Silva Syndrome	Myotonia of the upper limb, Handgrip myotonia	ORPHA:3101
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia	ORPHA:540
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:619802
Gaisböck Syndrome	Increased circulating renin level, Hyperuricemia, Gout, Hyperproteinemia, Hypertriglyceridemia, H...	ORPHA:90041
Spastic Paraplegia 79B, Autosomal Recessive	Myotonia	OMIM:615491
Congenital-Onset Steinert Myotonic Dystrophy	Myotonia	ORPHA:589821
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperuricemia, Gout, Osteoporosis, Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma,...	ORPHA:79259
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid...	ORPHA:79303
Fibrous Dysplasia Of Bone	Rickets, Patchy reduction of bone mineral density, Osteolysis, Hypophosphatemia, Fibrous dysplasi...	ORPHA:249
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Reduced bone mineral density	ORPHA:1414
Microtriplication 11Q24.1	Hyperlipidemia, Limitation of joint mobility	ORPHA:289522
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona...	ORPHA:90674
Hyperkalemic Periodic Paralysis	Myotonia	ORPHA:682
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:151660
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration	ORPHA:444490
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
H Syndrome	Hypertriglyceridemia, Camptodactyly, Osteolysis, Recurrent fractures	ORPHA:168569
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Acroosteolysis of distal phalanges (feet), Decreased HDL cholesterol concen...	ORPHA:280365
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia	OMIM:618183
Glycerol Kinase Deficiency	Hypertriglyceridemia, Osteoporosis, Pathologic fracture, Hyperglycerolemia	OMIM:307030
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Rickets, Hypophosphatemia	OMIM:616026
Lowe Oculocerebrorenal Syndrome	Rickets, Camptodactyly of finger, Pathologic fracture, Bicarbonaturia, Elevated circulating creat...	OMIM:309000
Cystinosis	Rickets, Hypophosphatemia, Hypokalemia	ORPHA:213
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Craniosynostosis, Osteopenia, Hypertriglyceridemia, Joint hypermobility, Hypercalcemia	ORPHA:369837
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	EMG: myotonic runs	ORPHA:353
Autosomal Recessive Hypophosphatemic Rickets	Craniosynostosis, Rickets of the lower limbs, Renal hypophosphatemia, Increased bone mineral dens...	ORPHA:289176
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Joint stiffness, Osteoporosis, Osteopenia, Osteomalacia, Joint hyperflexibility	ORPHA:1901
Fanconi-Bickel Syndrome	Rickets, Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Osteomalacia, Increased ...	OMIM:227810
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Chronic Visceral Acid Sphingomyelinase Deficiency	Increased LDL cholesterol concentration, Abnormal circulating lipid concentration, Pathologic fra...	ORPHA:77293
Mccune-Albright Syndrome	Fibrous dysplasia of the bones, Hypophosphatemia, Increased circulating cortisol level, Primary h...	ORPHA:562
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Schwartz-Jampel Syndrome, Type 1	Percussion myotonia	OMIM:255800
Lysosomal Acid Lipase Deficiency	Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia	ORPHA:275761
Seckel Syndrome 10	Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:617253
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis	OMIM:560000
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Joint hypermobility, Osteopenia	ORPHA:536532
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Hyperlipidemia	ORPHA:2089
Dent Disease	Rickets, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration...	ORPHA:1652
Immunodeficiency 47	Joint hypermobility, Decreased circulating copper concentration, Hypercholesterolemia	OMIM:300972
Nephrotic Syndrome, Type 1	Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia	OMIM:256300
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Osteoporosis, Osteomalacia	ORPHA:309031
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypophosphatemia, Hypermagnesemia, Hypercalcemia	OMIM:600740
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia, Joint hemorrhage	ORPHA:35909
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration	ORPHA:158048
Hypophosphatemic Rickets	Rickets, Craniofacial osteosclerosis, Hypophosphatemia, Joint stiffness, Enthesitis, Hyperostosis...	ORPHA:437
X-Linked Hypophosphatemia	Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Hypophosphat...	ORPHA:89936
Oculocerebrorenal Syndrome Of Lowe	Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Joint stiffness, Hypokalemia, Osteoma...	ORPHA:534
Celiac Disease, Susceptibility To, 1	Rickets, Steatorrhea, Osteoporosis, Hypocalcemia	OMIM:212750
Mandibuloacral Dysplasia Progeroid Syndrome	Joint stiffness, Osteopenia, Osteolytic defects of the phalanges of the hand, Hypertriglyceridemi...	OMIM:619127
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteolysis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges...	ORPHA:90153
Methanol Poisoning	Hyperlipidemia	ORPHA:31825
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Joint hypermobility	OMIM:619418
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia	ORPHA:167
Idiopathic Camptocormia	Myotonia	ORPHA:1320
Mandibuloacral Dysplasia With Type B Lipodystrophy	Osteolysis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges...	ORPHA:90154
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Mandibuloacral Dysplasia With Type B Lipodystrophy	Acroosteolysis of distal phalanges (feet), Progressive clavicular acroosteolysis, Osteolytic defe...	OMIM:608612
Stuve-Wiedemann Syndrome 1	Myotonia	OMIM:601559
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperaldosteronism, Increased circulating cortisol level, Osteoporosis, Hyperlipidemia, Paradoxic...	ORPHA:189427
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Atypical Werner Syndrome	Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive...	ORPHA:79474
Primary Fanconi Renotubular Syndrome	Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Osteomalac...	ORPHA:3337
Neu-Laxova Syndrome	Rickets, Arthrogryposis multiplex congenita, Osteoporosis, Osteopenia, Osteomalacia, Flexion cont...	ORPHA:2671
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Handgrip myotonia	ORPHA:438216
Lipodystrophy, Congenital Generalized, Type 2	Elevated hemoglobin A1c, Hypertriglyceridemia, Cystic angiomatosis of bone	OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cystic angiomatosis of bone	OMIM:608594
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Wilson Disease	Hypouricemia, Osteoporosis, Increased circulating copper concentration, Osteoarthritis, Osteomala...	OMIM:277900
Glycogen Storage Disease Ia	Hyperuricemia, Gout, Osteoporosis, Hyperlipidemia, Xanthelasma	OMIM:232200
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Flexion contracture of toe, Flexion contracture of finger, Hypertriglyce...	OMIM:256040
Alagille Syndrome 1	Hypertriglyceridemia, Hypercholesterolemia	OMIM:118450
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Distal Renal Tubular Acidosis	Rickets, Reduced bone mineral density, Hypokalemia, Osteomalacia, Increased susceptibility to fra...	ORPHA:18
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia	OMIM:619573
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia	ORPHA:411629
Schwartz-Jampel Syndrome	Myotonia	ORPHA:800
Aromatase Deficiency	Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Osteopenia	ORPHA:91
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Osteomalacia, Hypercalcemia	ORPHA:405
Obsolete: Primary Pigmented Nodular Adrenocortical Disease	Increased circulating cortisol level, Osteoporosis, Hyperlipidemia, Paradoxical increased cortiso...	ORPHA:189439
Glycogen Storage Disease Ib	Hyperuricemia, Gout, Osteoporosis, Hyperlipidemia, Xanthelasma	OMIM:232220
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Reduced bone mineral density, Osteopenia, Unconjugated hyperbilirubinemia, Joint laxity,...	OMIM:613658
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	EMG: myotonic runs	ORPHA:206549
Thyrotoxic Periodic Paralysis	Myotonia	ORPHA:79102
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Carnitine Palmitoyltransferase Ii Deficiency	Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration, Elevated circu...	ORPHA:157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:235400
Primary Lipodystrophy	Hyperlipidemia	ORPHA:90970
Familial Multiple Lipomatosis	Hyperlipidemia	ORPHA:199276
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hyperammonemia, Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration...	ORPHA:228308
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
X-Linked Lymphoproliferative Disease	Hypertriglyceridemia, Increased circulating ferritin concentration	ORPHA:2442
Occipital Horn Syndrome	Rickets, Osteolysis, Osteoporosis, Synostosis of joints, Osteopenia, Osteomalacia, Joint hyperfle...	ORPHA:198
Cystinosis, Nephropathic	Rickets, Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, De...	OMIM:219800
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Flexion contracture	OMIM:264090
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Osteopenia, Hypertriglyceridemia, Joint hypermobility, Synovitis	ORPHA:3455
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Osteopenia, Hyperbilirubinemia, Elevated circulating creatinine co...	OMIM:619534
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Parenteral Nutrition-Associated Cholestasis	Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia	ORPHA:567983
Glycogen Storage Disease Ic	Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia	OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Immunodeficiency 82 With Systemic Inflammation	Arthritis, Osteomalacia, Elevated circulating C-reactive protein concentration, Osteomyelitis, Hy...	OMIM:619381
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Rickets, Osteoporosis, Osteopenia, Osteomalacia, Abnormally ossified vertebrae	ORPHA:2636
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Elevated circulating creatine kinase concentration	ORPHA:565612
Woodhouse-Sakati Syndrome	Hyperlipidemia, Osteopenia	ORPHA:3464
Generalized Arterial Calcification Of Infancy	Fused cervical vertebrae, Osteomalacia, Abnormal calcification of the carpal bones, Hypophosphate...	ORPHA:51608
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Alström Syndrome	Hypertriglyceridemia, Hyperlipidemia, Hyperostosis frontalis interna	ORPHA:64

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 Rxrg

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 Rxrg.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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