Gene Summary

Name:
retinoid X receptor gamma
Synonyms:
Nr2b3

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.

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

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 Similarity of
phenotypes
Matching phenotypes Source
Thomsen And Becker Disease
Myotonia ORPHA:614
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic runs, Myo... OMIM:160800
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
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, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Percussion myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Myot... 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 with warm-up phenomenon, Myotonia OMIM:255700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Paramyotonia Congenita
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia OMIM:168300
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elbow flexion contracture, Elevate... OMIM:616516
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Myotonia, Potassium-Aggravated
Percussion myotonia, Handgrip myotonia, Myotonia OMIM:608390
Hypokalemic Periodic Paralysis, Type 2
Myotonia OMIM:613345
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia with warm-up phenomenon, Myotonia of the ... ORPHA:99734
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Hypokalemic Periodic Paralysis, Type 1
Myotonia OMIM:170400
Hypercholanemia, Familial 1
Rickets, Steatorrhea, Increased serum bile acid concentration OMIM:607748
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis, Hypercholesterolemia ORPHA:77296
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Renal Tubular Acidosis, Proximal
Rickets, Elevated circulating creatinine concentration, Osteomalacia OMIM:179830
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Hypercholesterolemia ORPHA:254531
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Temple Syndrome
Hypertriglyceridemia, Joint hypermobility, Hypercholesterolemia, Flexion contracture OMIM:616222
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
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
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia, Joint hypermobility OMIM:619013
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con... OMIM:179800
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Osteomyelitis OMIM:618010
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Hypokalemia OMIM:267200
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... 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
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei... OMIM:205400
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Bone cyst, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Joint contracture, Osteoporosis OMIM:615381
Mandibuloacral Dysplasia
Hypertriglyceridemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of d... ORPHA:2457
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98855
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Hypercholesterolemia ORPHA:96184
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Xp21 Deletion Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Elevated circulating creatine kinase concentr... ORPHA:261476
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia ORPHA:209335
Werner Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis OMIM:277700
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98863
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Decreased cervical spine flexion due to contractures of posterior cervical ... ORPHA:261
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Rickets, Hypophosphatemia, Osteomalacia ORPHA:89937
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Arthritis,... OMIM:210250
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Increased circulating beta-C-terminal tel... ORPHA:157215
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Percussion-induced rapid rolling muscle contractions, Handgrip myotonia, Myotonia ORPHA:324442
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hyperlipidemia, Osteoporosis ORPHA:369
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Rickets, Hypophosphatemia, Osteopenia ORPHA:2088
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Elbow flexion contracture, Hyperlipidemia, Osteolytic defects of the dist... OMIM:248370
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Hypophosp... ORPHA:93160
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Hypophosphatemia, Osteomalacia, Recurrent fractures OMIM:613388
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone... OMIM:300554
Myofibrillar Myopathy 10
Percussion myotonia OMIM:619040
Myotonia Permanens
Myotonia ORPHA:99735
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Sparse bone trabeculae,... OMIM:600081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia OMIM:602722
Fanconi Renotubular Syndrome 3
Rickets, Elevated circulating creatinine concentration OMIM:615605
Smith-Magenis Syndrome
Hypertriglyceridemia, Joint stiffness, Hypercholesterolemia ORPHA:819
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Conjugated hyperbilirubinemia OMIM:211600
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Richieri Costa-Da Silva Syndrome
Myotonia of the upper limb, Handgrip myotonia ORPHA:3101
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Juv... ORPHA:158061
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Megalocornea-Intellectual Disability Syndrome
Joint hypermobility, Hypercholesterolemia, Osteopenia ORPHA:2479
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Abnormal circulating calcium ... OMIM:241530
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, O... ORPHA:79240
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Zebra Body Myopathy
Handgrip myotonia ORPHA:97240
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Osteopenia, Elevated circulating creatine kinase concentration, Osteoporosi... OMIM:613327
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, O... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia, Knee flexion contracture OMIM:620454
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Hypophosphatemia, Hypokalemia OMIM:134600
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Myotonic Dystrophy 1
Myotonia OMIM:160900
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... ORPHA:470
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, ... OMIM:264700
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia OMIM:611590
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Unicameral bone cyst, Abnormal circulating lipid concentration ORPHA:79086
Infantile Systemic Hyalinosis
Osteopenia, Steatorrhea, Osteoporosis, Joint stiffness, Camptodactyly of finger, Osteomalacia, Re... ORPHA:2176
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Osteomalacia,... OMIM:300009
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Arthritis, Flexion contracture OMIM:617591
Vitamin D-Dependent Rickets, Type 2A
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone tr... OMIM:277440
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hype... ORPHA:79303
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Myotonic Dystrophy 2
Handgrip myotonia, Myotonia OMIM:602668
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia, ... OMIM:307800
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Cholestasis-Lymphedema Syndrome
Reduced bone mineral density, Hyperlipidemia ORPHA:1414
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration ORPHA:444490
Microtriplication 11Q24.1
Limitation of joint mobility, Hyperlipidemia ORPHA:289522
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Osteopenia, Hyperuricemia, Hyperlipidemia, Osteoporosis, Gout,... ORPHA:79259
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin concentratio... ORPHA:90674
Prader-Willi Syndrome
Hypertriglyceridemia, Osteopenia, Decreased HDL cholesterol concentration, Osteoporosis, Hypercho... OMIM:176270
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Hypophosphatemia OMIM:616026
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Osteoporosis, Conjugated hype... ORPHA:186
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia ORPHA:589821
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia OMIM:615491
Fibrous Dysplasia Of Bone
Rickets, Osteomalacia, Abnormal bone structure, Cortical irregularity, Thin bony cortex, Hypercal... ORPHA:249
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, ... OMIM:227810
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hypocalcemic seizures, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, ... ORPHA:289157
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
H Syndrome
Hypertriglyceridemia, Camptodactyly, Recurrent fractures, Osteolysis ORPHA:168569
Hyperkalemic Periodic Paralysis
Myotonia ORPHA:682
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Acroosteolysis of distal phalanges... ORPHA:280365
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myotonic runs ORPHA:353
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Cystinosis
Rickets, Hypophosphatemia, Hypokalemia ORPHA:213
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteomalacia, Osteoporosis, Joint stiffness, Joint hypermobility ORPHA:1901
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Osteopenia, Hypercalcemia, Joint hypermobility, Craniosynostosis ORPHA:369837
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Rickets, Pathologic fracture, Osteomalacia, Elevated circulating creatine kinase ... OMIM:309000
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Mccune-Albright Syndrome
Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Hypophosphatemia, Monostotic fibrous dysplas... ORPHA:562
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Pathologic fracture, Osteoporosis OMIM:307030
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:77293
Schwartz-Jampel Syndrome, Type 1
Percussion myotonia OMIM:255800
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis OMIM:560000
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia, Joint hypermobility, Osteopenia ORPHA:536532
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Dent Disease
Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Spa... ORPHA:1652
Immunodeficiency 47
Joint hypermobility, Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Hyperostosis fronta... OMIM:203800
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Steatorrhea, Osteomalacia, Osteoporosis ORPHA:309031
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Percussion myotonia OMIM:620275
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobility, Hyperlipide... ORPHA:90153
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Arthritis, Osteomalacia, Joint stiffness, Hyponatremia, Hypophosphatemia, Hyperaldos... ORPHA:534
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... ORPHA:89936
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Rickets, Osteoporosis OMIM:212750
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Osteopenia, Osteolytic defects of the phalanges of the hand, Joint stiffnes... OMIM:619127
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Joint hypermobility OMIM:619418
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Acroosteolysi... ORPHA:90154
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Acroosteolysis of distal ... OMIM:608612
Idiopathic Camptocormia
Myotonia ORPHA:1320
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia ORPHA:167
Stuve-Wiedemann Syndrome 1
Myotonia OMIM:601559
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Osteoporosis, Hyperaldosteronism, Paradoxical increased cortisol secretion on dex... ORPHA:189427
19P13.12 Microdeletion Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita, Hyperlipidemia ORPHA:254346
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Glycogen Storage Disease Ia
Xanthelasma, Hyperuricemia, Hyperlipidemia, Osteoporosis, Gout OMIM:232200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia ORPHA:438216
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Neu-Laxova Syndrome
Rickets, Osteopenia, Osteoporosis, Flexion contracture, Osteomalacia, Arthrogryposis multiplex co... ORPHA:2671
Atypical Werner Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Osteolytic defects of the phalanges of the ha... ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Elevated hemoglobin A1c, 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
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Elevat... OMIM:256040
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Aromatase Deficiency
Osteopenia, Hyperlipidemia, Osteoporosis, Delayed epiphyseal ossification ORPHA:91
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia ORPHA:405
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Hypokalemia, Osteomalacia, Increased susceptibility to fra... ORPHA:18
Schwartz-Jampel Syndrome
Myotonia ORPHA:800
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Rickets, Hypophosphatemia, Hypokalemia ORPHA:411629
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, Unconjugated hyperbilirubinemia,... OMIM:613658
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Glycogen Storage Disease Ib
Xanthelasma, Hyperuricemia, Hyperlipidemia, Osteoporosis, Gout OMIM:232220
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasma total carnit... ORPHA:157
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Osteomalacia... OMIM:277900
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myotonic runs ORPHA:206549
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased pla... ORPHA:228308
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulatin... OMIM:219800
Bardet-Biedl Syndrome
Hypertriglyceridemia, Joint hypermobility, Decreased HDL cholesterol concentration ORPHA:110
Occipital Horn Syndrome
Rickets, Osteopenia, Osteomalacia, Synostosis of joints, Osteoporosis, Joint hypermobility, Osteo... ORPHA:198
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Hypomagnesemia 3, Renal
Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, ... OMIM:248250
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Osteopenia, Synovitis, Camptodactyly of finger, Joint hypermobility ORPHA:3455
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Flexion contracture OMIM:264090
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Joint hypermobility, Hypoalbuminem... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Arthritis, Hypernatremia, Osteomalacia, Hy... OMIM:619381
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis, Osteomalacia ORPHA:2636
Fabry Disease
Abnormal circulating lipid concentration, Arthritis, Reduced bone mineral density, Hyperlipidemia ORPHA:324
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:565612
Woodhouse-Sakati Syndrome
Osteopenia, Hyperlipidemia ORPHA:3464
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Generalized Arterial Calcification Of Infancy
Osteomalacia, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the c... ORPHA:51608
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
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.

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