Gene Summary

Name:
mediator complex subunit 23
Synonyms:
sno,  Crsp3,  X83317,  ESTM7,  3000002A17Rik,  Sur2

IMPC Data Collections

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
preweaning lethality, complete penetrance Med23em1(IMPC)Wtsi HOM   Early adult 0.00
decreased bone mineral content Med23em1(IMPC)Wtsi HET Early adult 6.37×10-05
increased red blood cell distribution width Med23em1(IMPC)Wtsi HET   Early adult 6.69×10-05
increased circulating HDL cholesterol level Med23em1(IMPC)Wtsi HET Early adult 1.22×10-08
decreased circulating fructosamine level Med23em1(IMPC)Wtsi HET   Early adult 1.56×10-05
increased lean body mass Med23em1(IMPC)Wtsi HET Early adult 2.71×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 66 images

Human diseases caused by Med23 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Med23 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
OMIM:614249
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616

The table below shows human diseases predicted to be associated to Med23 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:616860
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... OMIM:224120
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... ORPHA:86841
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Hypercholesterolemia OMIM:610947
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Orotic Aciduria
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... OMIM:258900
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... OMIM:619868
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Failure to thrive OMIM:604273
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... OMIM:210250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg... OMIM:618278
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia, Splenomegaly OMIM:306000
Temple Syndrome
Small for gestational age, Truncal obesity, Hypertriglyceridemia, Hypercholesterolemia, Overweight OMIM:616222
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... OMIM:616828
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Growth Hormone Insensitivity Syndrome
Failure to thrive, Truncal obesity, Hypercholesterolemia ORPHA:181393
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Congenital Erythropoietic Porphyria
Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Osteo... ORPHA:79277
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Lysosomal Acid Lipase Deficiency
Failure to thrive, Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosple... OMIM:278000
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia, Obesity ORPHA:77296
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly ORPHA:1131
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Branchiootic Syndrome
Branchial fistula, Facial palsy ORPHA:52429
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Galactokinase Deficiency
Failure to thrive, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol i... ORPHA:79237
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Bor Syndrome
Branchial cyst, Facial palsy ORPHA:107
Hyperlipoproteinemia, Type I
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Congenital Generalized Lipodystrophy
Failure to thrive, Bone cyst, Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Laron Syndrome
Truncal obesity, Hypercholesterolemia ORPHA:633
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... ORPHA:86816
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia OMIM:182290
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... ORPHA:264580
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Facial palsy OMIM:113650
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Small for gestational age, Truncal obesity, Hypercholesterolemia ORPHA:96184
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Osteoporosis, Hypertriglyceride... ORPHA:79240
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... ORPHA:90041
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Cystic hygroma, Branchial anomaly, Intrauterine gro... ORPHA:453499
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Hypertrig... ORPHA:2457
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Short neck, Optic atrophy, Spinal dysraphism, Branchial anomaly... ORPHA:2162
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Osteopenia, Hyperglu... ORPHA:470
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Oligomeganephronia
Branchial cyst, Optic disc coloboma ORPHA:2260
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... ORPHA:370
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Smith-Magenis Syndrome
Hypertriglyceridemia, Obesity, Failure to thrive in infancy, Hypercholesterolemia ORPHA:819
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Lysosomal Acid Lipase Deficiency
Failure to thrive, Vacuolated lymphocytes, Steatorrhea, Cachexia, Hepatosplenomegaly, Hyperkalemi... ORPHA:275761
Megalocornea-Mental Retardation Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia ORPHA:2479
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Branchial fistula, Optic disc coloboma, Webbed neck, Low posterior hairline ORPHA:261337
Immunodeficiency 47
Failure to thrive, Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Decreased circu... OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Osteopenia, Osteoporosi... ORPHA:79259
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Osteopenia, Acroosteolysis of distal phalanges (feet), Progressive clavicular acr... OMIM:248370
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia ORPHA:90065
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly ORPHA:352665
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyrogl... ORPHA:90674
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation ORPHA:261330
Treacher-Collins Syndrome
Branchial fistula, Encephalocele ORPHA:861
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypoammonemia, Osteomalacia, Hyperaldosteronism... ORPHA:534
Bardet-Biedl Syndrome 20
Obesity, Hypercholesterolemia OMIM:619471
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Osteomalacia, Bicarbonaturia, Hypercholesterolemia, Elevated maternal serum al... OMIM:309000
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Branchiooculofacial Syndrome
Short neck, Branchial anomaly, Facial palsy, Intrauterine growth retardation, Low posterior hairline OMIM:113620
Alagille Syndrome 1
Hypertriglyceridemia, Failure to thrive, Hypercholesterolemia OMIM:118450
Witteveen-Kolk Syndrome
Branchial fistula, Intrauterine growth retardation OMIM:613406
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Failure to thrive, Hypercholesterolemia OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, Splenomegaly... OMIM:619534
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Short neck, Spina bifida occulta, Branchial cyst, Intrauterine growth ret... ORPHA:508488
Craniofacial Microsomia
Hydrocephalus, Occipital encephalocele, Branchial anomaly OMIM:164210
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665
Autosomal Recessive Non-Syndromic Intellectual Disability
ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
OMIM:614249

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 Med23

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 Med23.