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Gene: Usp20 MGI:1921520

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Gene Summary

Name:
ubiquitin specific peptidase 20
Synonyms:
Vdu2,  1700055M05Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating chloride level Usp20tm1a(EUCOMM)Hmgu HOM   Early adult 3.87×10-06
increased circulating alkaline phosphatase level Usp20tm1a(EUCOMM)Hmgu HOM Early adult 5.81×10-08

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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

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Usp20tm1a(EUCOMM)Hmgu
HOM, Female, WTSI
Usp20tm1a(EUCOMM)Hmgu
HOM, Female, WTSI
Usp20tm1a(EUCOMM)Hmgu
HOM, Female, WTSI
Usp20tm1a(EUCOMM)Hmgu
HOM, Female, WTSI
Usp20tm1a(EUCOMM)Hmgu
HOM, Female, WTSI

View all 70 images

Usp20tm1a(EUCOMM)Hmgu
fused cornea and lens, HOM, Female, WTSI
Usp20tm1a(EUCOMM)Hmgu
abnormal retinal pigmentation, HOM, Female, WTSI

Human diseases caused by Usp20 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 Usp20 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased HDL cholesterol concentration, Decreased LDL ch... OMIM:616834
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Lipodystrophy, Hype... OMIM:612526
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... OMIM:618858
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... OMIM:606176
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Obesity OMIM:617885
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:158061
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... ORPHA:540
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Steatorrhea ORPHA:71
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Lipodystrophy, Hypertriglyceridemia, Increased intraabdominal fat, Insulin-resist... ORPHA:79085
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Increased circ... OMIM:144650
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Camptodactyly, Hypocholesterolemia, Hypoal... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Flexion contracture, Steatorrhea, Hypocholesterolemia, Hypoalbuminemia, Abnorm... OMIM:212065
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Increased body weigh... ORPHA:2298
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... ORPHA:14
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity, Hypercholesterolemia OMIM:615812
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... ORPHA:90363
Dubowitz Syndrome
Hypocholesterolemia, Inguinal hernia OMIM:223370
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Hyponatremia ORPHA:90794
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Hypocalcemia, Severe infection, Brain abscess,... ORPHA:544482
Smith-Lemli-Opitz Syndrome
Failure to thrive, Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia OMIM:270400
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436

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 Usp20

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 Usp20.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Usp20tm1a(EUCOMM)Hmgu PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Usp20tm1a(EUCOMM)Hmgu PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Usp20tm1a(EUCOMM)Hmgu PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Usp20tm1a(EUCOMM)Hmgu PMC6459510
The deubiquitinase ubiquitin-specific protease 20 is a positive modulator of myocardial β1-adrenergic receptor expression and signaling. The Journal of biological chemistry (December 2018) Usp20tm1a(EUCOMM)Hmgu 30538132
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Usp20tm1a(EUCOMM)Hmgu PMC5827107

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MGI Allele Allele Type Produced
Usp20tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Usp20tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Usp20tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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