Gene Summary

Name:
mediator complex subunit 20
Synonyms:
1110011O05Rik,  Trfp,  2410115I17Rik

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
decreased leukocyte cell number Med20em1(IMPC)J HET Early adult 1.49×10-05
preweaning lethality, complete penetrance Med20em1(IMPC)J HOM   Early adult 0.00
embryonic lethality prior to organogenesis Med20em1(IMPC)J HOM   E9.5 0.00
abnormal sinus arrhythmia Med20em1(IMPC)J HET Early adult 4.46×10-06
abnormal lens morphology Med20em1(IMPC)J HET Early adult 1.43×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Med20 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 Med20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract, Arrhythmia, Sudden cardiac death OMIM:212500
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Cataract 29
Cataract OMIM:115800
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 35
Cataract OMIM:609376
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Cardiomyopathy, Dilated, 1Ii
Cataract, Ventricular tachycardia, Mitral regurgitation, Moderately reduced left ventricular ejec... OMIM:615184
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... OMIM:616249
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Long Qt Syndrome 5
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... OMIM:613695
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Cataract 33, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:611391
Cataract 15, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:615274

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 Med20

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 Med20.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
MED20 is essential for early embryogenesis and regulates NANOG expression. Reproduction (Cambridge, England) (March 2019) Med20em1(IMPC)J 30571656

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MGI Allele Allele Type Produced
Med20em1(IMPC)J Exon Deletion Mice

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