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
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
decreased grip strength RxrgRxrg HOM Early adult 2.22×10-06
decreased thermal nociceptive threshold RxrgRxrg HOM   Early adult 4.22×10-05

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
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Myotonia Congenita, Autosomal Dominant
Myotonia, Percussion myotonia, EMG: myotonic runs, Handgrip myotonia, Myotonia with warm-up pheno... OMIM:160800
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
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Hypertriglyceridemia, Gout OMIM:610947
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Cold-sensitive myotonia, Paradoxical myotonia, Myotonia of the jaw, M... ORPHA:684
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Myotonia Congenita, Autosomal Recessive
EMG: myotonic runs, Myotonia with warm-up phenomenon, Percussion myotonia, Myotonia OMIM:255700
Muscular Dystrophy, Barnes Type
Myotonia OMIM:158800
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Paradoxical myotonia, Percussion myotonia OMIM:168300
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis, Hypoalbuminem... OMIM:616000
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Brody Disease
Percussion myotonia, Myotonia OMIM:601003
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Temple Syndrome
Joint hypermobility, Flexion contracture, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Myotonia Fluctuans
Myotonia of the upper limb, Myotonia of the face, Myotonia of the lower limb, Handgrip myotonia, ... ORPHA:99734
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Glycerol Kinase Deficiency
Osteoporosis, Hypertriglyceridemia, Pathologic fracture OMIM:307030
Myotonia, Potassium-Aggravated
Myotonia OMIM:608390
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia, Rickets, Osteomalacia OMIM:193100
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Rickets, Steatorrhea OMIM:607748
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia OMIM:137200
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperuricemia, Hyperostosis frontalis interna ORPHA:77296
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Hypercholesterolemia ORPHA:254531
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Laron Syndrome
Osteoarthritis, Hypercholesterolemia ORPHA:633
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Percussion myotonia ORPHA:34516
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia, Joint hypermobility OMIM:619013
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Acetazolamide-Responsive Myotonia
Myotonia ORPHA:99736
Myopathy, X-Linked, With Excessive Autophagy
Myotonia OMIM:310440
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Osteoporosis, Hypertriglyceridemia OMIM:615381
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia, Pathologi... OMIM:179800
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Congenital Generalized Lipodystrophy
Increased C-peptide level, Bone cyst, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:79085
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Rickets OMIM:613388
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia, Hyperargininemia OMIM:603471
Mandibuloacral Dysplasia
Hypercholesterolemia, Osteolytic defects of the distal phalanges of the hand, Contractures of the... ORPHA:2457
Sitosterolemia 1
Hyperapobetalipoproteinemia, Arthritis, Elevated circulating sitosterol concentration, Hyperchole... OMIM:210250
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604367
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:435651
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Hypercholesterolemia ORPHA:96184
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Xp21 Deletion Syndrome
Joint laxity, Osteoporosis, Elevated circulating creatine kinase concentration, Hypertriglyceride... ORPHA:261476
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Rickets, Osteomalacia ORPHA:89937
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia OMIM:134600
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Rickets, Steatorrhea OMIM:607765
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Osteomalacia, Increased circulating beta-C-terminal telopeptide level, ... ORPHA:157215
Fanconi-Bickel Syndrome
Hypophosphatemia, Osteopenia, Rickets, Hypertriglyceridemia ORPHA:2088
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:435660
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Bone cyst, Osteolysis, ... ORPHA:93160
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Percussion-induced rapid rolling muscle contractions, Handgrip myotonia, Myotonia ORPHA:324442
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Hypophosphatemic Rickets, X-Linked Recessive
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Osteomalacia, Thin bony co... OMIM:300554
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Myotonia of the upper limb ORPHA:3101
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, H... OMIM:600081
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Myotonia Permanens
Myotonia ORPHA:99735
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Megalocornea-Intellectual Disability Syndrome
Joint hyperflexibility, Osteopenia, Hypercholesterolemia ORPHA:2479
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hyperlipidemia, Osteoporosis ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Hypertriglyceridemia, Hyperchol... ORPHA:79240
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Myofibrillar Myopathy 10
Percussion myotonia OMIM:619040
Megalocornea-Mental Retardation Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Episodic Ataxia Type 1
Myotonia ORPHA:37612
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Osteopenia, Osteoporosis, Elevated circulating creatine kinase concentration... OMIM:613327
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Smith-Magenis Syndrome
Joint stiffness, Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Zebra Body Myopathy
Handgrip myotonia ORPHA:97240
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Sparse bone trabeculae, Recurrent fractures, Hypophosphatemic rickets, Thin bony cortex, Delayed ... OMIM:241530
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Hypertriglyceridemia, Hyperchol... ORPHA:264580
Spastic Paraplegia 79, Autosomal Recessive
Myotonia OMIM:615491
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Myotonic Dystrophy 1
Myotonia OMIM:160900
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Myotonic Dystrophy 2
Myotonia OMIM:602668
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Sparse bone trabeculae, Hypocalcemia, Increased susceptibility to fracture... ORPHA:289157
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epi... OMIM:264700
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Infantile Systemic Hyalinosis
Joint stiffness, Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fract... ORPHA:2176
Alstrom Syndrome
Hyperuricemia, Hyperostosis frontalis interna, Hypertriglyceridemia, Decreased HDL cholesterol co... OMIM:203800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets OMIM:611590
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hyp... OMIM:615980
Dent Disease 1
Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal o... OMIM:300009
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia, Unicameral bone cyst ORPHA:79086
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Osteopenia, Hypercholesterolemia, Hyperprolinemia, ... ORPHA:470
Proteasome-Associated Autoinflammatory Syndrome 3
Flexion contracture, Arthritis, Hypertriglyceridemia OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Thin bony cortex, Delayed epi... OMIM:277440
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Osteomalacia, Jo... OMIM:309000
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Gout, Hyperuricemia, Hypertriglyceridemi... ORPHA:90041
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:444490
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Hypophosphatemia, Osteomalacia OMIM:307800
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Microtriplication 11Q24.1
Hyperlipidemia, Limitation of joint mobility ORPHA:289522
Fibrous Dysplasia Of Bone
Cortical irregularity, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal bone structure, Os... ORPHA:249
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Abnormal circulati... ORPHA:90674
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Osteopenia, Hypercholesterolemia, Osteoporosis, Increased susceptibility to fract... ORPHA:79259
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Osteomalacia, Hypouricemia OMIM:227810
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Cholestasis-Lymphedema Syndrome
Reduced bone mineral density, Hyperlipidemia ORPHA:1414
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
H Syndrome
Recurrent fractures, Camptodactyly, Osteolysis, Hypertriglyceridemia ORPHA:168569
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia, Ricket... ORPHA:79303
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Hyper... ORPHA:280365
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Hyperkalemic Periodic Paralysis
Myotonia ORPHA:682
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Rickets, Hypouricemia OMIM:616026
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Osteopenia, Hypercalcemia, Joint hypermobility, Hypertriglyceridemia ORPHA:369837
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
Hypokalemia, Hypophosphatemia, Rickets ORPHA:213
Schwartz-Jampel Syndrome, Type 1
Myotonia OMIM:255800
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Osteopenia, Abnormal circulating lipid concentration, Pathologic fracture, Osteop... ORPHA:77293
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Osteoporosis, Osteomalacia, Joint hyperflexibility, Rickets ORPHA:1901
Mccune-Albright Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Primary hyper... ORPHA:562
Wilson Disease
Osteoarthritis, Osteoporosis, Joint hypermobility, Osteomalacia, High nonceruloplasmin-bound seru... OMIM:277900
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Hypertriglyceridemia, Joint hypermobility ORPHA:536532
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Dent Disease
Sparse bone trabeculae, Recurrent fractures, Hyperuricosuria, Osteomalacia, Elevated circulating ... ORPHA:1652
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Joint hemorrhage, Hyperuricemia ORPHA:35909
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Steatorrhea ORPHA:309031
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Stuve-Wiedemann Syndrome 1
Myotonia OMIM:601559
Immunodeficiency 47
Joint hypermobility, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Flexion contracture, Joint stiffness, Osteolytic defects of the phalanges of the hand... OMIM:619127
Hypophosphatemic Rickets
Joint stiffness, Hypercalcemia, Craniofacial osteosclerosis, Fibrous dysplasia of the bones, Oste... ORPHA:437
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Recurrent fractures, Joint stiffness, Hypercholesterolemia, Hypoammone... ORPHA:534
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Prog... OMIM:608612
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Oste... ORPHA:90153
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia ORPHA:167
Methanol Poisoning
Hyperlipidemia ORPHA:31825
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Calcinosis, Osteolysis, A... ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Joint stiffness, Osteolytic defects of the distal phalanges ... OMIM:248370
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Osteoporosis, Rickets, Steatorrhea OMIM:212750
Idiopathic Camptocormia
Myotonia ORPHA:1320
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Joint hypermobility OMIM:619418
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Osteoporosis, Increased susceptibility to fractures, Paradoxical increased cortis... ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 1
Cystic angiomatosis of bone, Hypertriglyceridemia OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture, Elbow flexion contracture, Elevated circulating C-reactive protein concentra... OMIM:256040
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Osteoporosis, Osteomalacia, Arthrogryposis multiplex congenita, ... ORPHA:2671
Atypical Werner Syndrome
Increased bone mineral density, Sclerosis of hand bone, Osteoporosis, Osteolytic defects of the p... ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 2
Cystic angiomatosis of bone, Hypertriglyceridemia OMIM:269700
Glycogen Storage Disease Ia
Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma, Gout OMIM:232200
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Osteomalacia, Hypermagnesemia, Ren... ORPHA:405
Glycogen Storage Disease Ib
Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma, Gout OMIM:232220
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia ORPHA:438216
Distal Renal Tubular Acidosis
Hypokalemia, Increased susceptibility to fractures, Osteomalacia, Reduced bone mineral density, R... ORPHA:18
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Rickets ORPHA:411629
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Schwartz-Jampel Syndrome
Myotonia ORPHA:800
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Hyperlipidemia, Osteoporosis ORPHA:91
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Increased susceptibility to fractures, Osteoporosis, Paradoxical increased cortis... ORPHA:189439
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hypertriglyceridemia OMIM:619573
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarnitine concentratio... ORPHA:157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myotonic runs ORPHA:206549
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypertriglyceridemia OMIM:264090
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Hypocalcemia, Thin bony cortex, Hypoalbuminemia, Reduced bone mineral d... OMIM:613658
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarnitine concentratio... ORPHA:228308
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Elevated circulating creatinine concent... OMIM:619534
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Joint hypermobility, Synovitis, Hypertriglyceridemia, Camptodactyly of finger ORPHA:3455
Occipital Horn Syndrome
Osteopenia, Osteoporosis, Osteomalacia, Synostosis of joints, Osteolysis, Joint hyperflexibility,... ORPHA:198
Cystinosis, Nephropathic
Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Hypophosphatemia... OMIM:219800
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Conjugated hyperbilirubinemia ORPHA:567983
Glycogen Storage Disease Ic
Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia OMIM:232240
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Osteoporosis, Osteomalacia, Abnormally ossified vertebrae, Rickets ORPHA:2636
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Osteomalacia, Osteomyelitis, Hypoalbuminem... OMIM:619381
Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia ORPHA:565612
Woodhouse-Sakati Syndrome
Osteopenia, Hyperlipidemia ORPHA:3464
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... ORPHA:51608
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Alström Syndrome
Hyperlipidemia, Hypertriglyceridemia, 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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