Gene Summary

ubiquitin specific peptidase 22

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal gait Usp22tm1b(KOMP)Wtsi HET Early adult 4.76×10-07
increased monocyte cell number Usp22tm1b(KOMP)Wtsi HET Early adult 2.58×10-06
increased lean body mass Usp22tm1a(KOMP)Wtsi HET Early adult 4.83×10-05
preweaning lethality, complete penetrance Usp22tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased mean corpuscular hemoglobin Usp22tm1a(KOMP)Wtsi HET Early adult 2.29×10-08
increased mean corpuscular hemoglobin concentration Usp22tm1a(KOMP)Wtsi HET Early adult 6.99×10-11
increased red blood cell distribution width Usp22tm1a(KOMP)Wtsi HET Early adult 1.66×10-05
preweaning lethality, complete penetrance Usp22tm1b(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote Ambiguous
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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


XRay Images Skull Dorso Ventral Orientation

24 Images

Adult LacZ

LacZ Images Wholemount

22 Images


XRay Images Whole Body Lateral Orientation

24 Images


XRay Images Skull Lateral Orientation

14 Images


XRay Images Forepaw

13 Images


M-Mode Images

32 Images


XRay Images Whole Body Dorso Ventral

24 Images

Auditory Brain Stem Response

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

4 Images

Legacy Phenotype Associated Images

View all 84 images

Human diseases caused by Usp22 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 Usp22 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Intrauterine growth retardation, Short stature ORPHA:436144
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Diarrhea 5, With Tufting Enteropathy, Congenital
Small for gestational age, Failure to thrive, Crypt hyperplasia, Villous atrophy OMIM:613217
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Diarrhea 9
Failure to thrive, Villous atrophy OMIM:618168
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Abnormal intestine morphology, Villous atrophy OMIM:251850
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... OMIM:616860
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Growth delay, Failure to thrive, Fat malabsorption OMIM:613291
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature OMIM:223500
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Jejunal Atresia
Jejunal atresia OMIM:243600
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Protein-losing enteropathy, Villous atrophy OMIM:615863
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Small Bowel Atresia
Intestinal hypoplasia, Intestinal malrotation, Failure to thrive, Short stature, Intrauterine gro... ORPHA:1201
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Intrauterine growth retardation OMIM:619441
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Congenital Short Bowel Syndrome
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... OMIM:615237
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Alpha-Heavy Chain Disease
Growth delay, Abnormal small intestine morphology ORPHA:100025
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Growth delay, Enterocolitis, Vo... ORPHA:95427
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Anisocytosis OMIM:604273
Chylomicron Retention Disease
Growth delay, Failure to thrive, Steatorrhea, Accumulation of lipid droplets in small-bowel enter... OMIM:246700
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Hypercholanemia, Familial 1
Failure to thrive, Steatorrhea, Fat malabsorption OMIM:607748
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Hematochezia,... ORPHA:2070
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Failure to thrive, Villous atrophy OMIM:614328
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Weight loss ORPHA:103910
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Postnatal growth retardation, Delayed puberty, Short stature OMIM:618985
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Trichohepatoenteric Syndrome 2
Colitis, Failure to thrive, Intrauterine growth retardation, Small for gestational age, Villous a... OMIM:614602
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia ORPHA:848
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... ORPHA:92050
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Autoinflammation With Infantile Enterocolitis
Short stature, Enterocolitis, Failure to thrive, Villous atrophy OMIM:616050
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis, Meningocele ORPHA:1759
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to thrive, Ellip... OMIM:618278
Failure to thrive, Protein-losing enteropathy, Macroglossia ORPHA:79320
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Netherton Syndrome
Failure to thrive, Recurrent infection of the gastrointestinal tract, Hypereosinophilia, Intestin... OMIM:256500
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Steatorrhea, Protein-losing enteropathy, Villous atrophy OMIM:602579
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Failure to thrive, Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Mitchell-Riley Syndrome
Annular pancreas, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, Absent gall... OMIM:615710
Proprotein Convertase 1/3 Deficiency
Obesity, Villous atrophy OMIM:600955
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Failure to thrive, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Immunodeficiency 85 And Autoimmunity
Growth delay, Failure to thrive in infancy, Villous atrophy OMIM:619510
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Glossitis, Cachexia, Hamartomatous polyposis, Hematochezia, Gastroint... OMIM:175500
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Hydrocephalus, Ileoileal intussusception, Failure to thrive, W... OMIM:619377
Congenital Disorder Of Glycosylation, Type Id
Failure to thrive, Bifid uvula, High palate, Villous atrophy OMIM:601110
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia, Hydrocephalus ORPHA:163961
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation, Failure to thrive, Protein-losing enteropathy, Cryptorchidism OMIM:608104
Annular Pancreas
High intestinal obstruction, Annular pancreas, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Annular pancreas, Duodenal stenosis OMIM:167750
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Trigonocephaly 1
Meckel diverticulum, High, narrow palate OMIM:190440
Trichothiodystrophy 6, Nonphotosensitive
Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Failure to thrive, Ileus, Villous atrophy OMIM:304790
Refractory Celiac Disease
Protein-losing enteropathy, Weight loss, Jejunitis, Villous atrophy ORPHA:398063
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Abnormal small... ORPHA:90362
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Failure to thrive, Fat malabsorption, Cholelithiasis OMIM:211600
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Failure to thrive, Short stature... OMIM:616395
Pancreatic Colipase Deficiency
Steatorrhea, Fat malabsorption, Cholelithiasis ORPHA:309108
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis OMIM:616744
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Mungan Syndrome
Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum OMIM:611376
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Esophageal stenosis, Intrauterine growth retardation, Colitis OMIM:615190
Oculoskeletodental Syndrome
Protein-losing enteropathy, Cryptorchidism, Short stature, Macroglossia, Small for gestational age OMIM:618440
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Villous atrophy, Colitis OMIM:209920
Immunodeficiency 31C
Delayed puberty, Protein-losing enteropathy, Gastrointestinal eosinophilia, Short stature, Growth... OMIM:614162
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia ORPHA:1198
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Intestinal obstruction, Hypoplasia of the thymus, Intestinal malrotation, Enteroco... OMIM:243150
Serkal Syndrome
Malrotation of small bowel, Growth delay ORPHA:139466
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Villous atrophy OMIM:608776
Chylomicron Retention Disease
Growth delay, Failure to thrive, Steatorrhea, Fat malabsorption ORPHA:71
Bile Acid Synthesis Defect, Congenital, 1
Acholic stools, Failure to thrive, Steatorrhea, Fat malabsorption OMIM:607765
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr... ORPHA:79277
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Failure to thrive, Duodenal stenosis, Intra... ORPHA:2470
Beta-Thalassemia Intermedia
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... ORPHA:231222
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Growth delay, Inflammation of the large intestine, Failure to thrive, Atrophic gastritis... OMIM:614700
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Failure to thrive, Steatorrhea, Fat malabsorption ORPHA:79303
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Persistence of hemoglobin F OMIM:619769
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc... OMIM:155310
Duodenal Atresia
Duodenal atresia OMIM:223400
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Hematochezia, Fat malabsorption OMIM:214950
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231214
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cat Eye Syndrome
Rectal fistula, Anal stenosis, Meckel diverticulum, Anal atresia, Intestinal malrotation, Short s... OMIM:115470
Fat malabsorption OMIM:200100
Meckel diverticulum, Intestinal malrotation, Pancreatic hypoplasia, Hydrocephalus ORPHA:1666
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology ORPHA:2847
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Protein-losing enteropathy, Neoplasm of the pancreas, Stomach cancer... ORPHA:2929
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure to thrive, Thr... OMIM:260400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Spina bi... OMIM:235510
Abnormal jejunum morphology ORPHA:449280
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palat... ORPHA:1655
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Failure to thrive, Cleft palate, Intrauterine gro... OMIM:311900
Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Villous atrophy OMIM:606367
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malr... ORPHA:210122
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Cleft palate, Cryptorchidism OMIM:235255
Parenteral Nutrition-Associated Cholestasis
Biliary hyperplasia, Small for gestational age, Cholelithiasis, Villous atrophy ORPHA:567983
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Bile duct proliferation ORPHA:79302
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Decreased body weight, Postnatal growth retardation, Fat malabsorption ORPHA:96180
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Isolated Biliary Atresia
Severe failure to thrive, Bile duct proliferation, Atretic gallbladder, Failure to thrive, Acholi... ORPHA:30391
Tarp Syndrome
Glossoptosis, Cryptorchidism, Failure to thrive, Cleft palate, Abnormal duodenum morphology, Intr... ORPHA:2886
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal duodenum morphology, Abnormal stomach morphology, Intussusc... ORPHA:512
Syndromic Diarrhea
Gastritis, Colitis, Hypoplasia of the thymus, Intrauterine growth retardation, Short stature, Hep... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Steatorrhea, Villous atrophy OMIM:212065
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Trichohepatoenteric Syndrome 1
Short stature, Failure to thrive, Bifid uvula, Intrauterine growth retardation, Small for gestati... OMIM:222470
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Growth delay, Cleft palate, Atrophic gastritis, Intrauterine growth re... OMIM:619573
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Failure to thrive, Pancreatic fibrosis, Small for gestational age, Villous atrophy OMIM:557000
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Small for gestational age ORPHA:330015
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Abnormal intestine morphology, Esophageal carcinoma, Enterocolitis, Short statur... ORPHA:391487
Fryns Syndrome
Large for gestational age, Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal a... OMIM:229850
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Intrauterine growth retardation, ... ORPHA:1708
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Cryptorchidism OMIM:618183
Meier-Gorlin Syndrome 7
Anal stenosis, Breast aplasia, High palate, Decreased body weight, Anal atresia, Short stature, G... OMIM:617063
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, Azoospermia, Hydroce... ORPHA:84
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Acrocephalopolydactylous Dysplasia
Hypoplasia of the small intestine, Pancreatic fibrosis, Hypoplastic colon OMIM:200995
Trisomy 8P
Annular pancreas, Hydrocephalus, Bifid uvula, Cleft palate, Agenesis of corpus callosum, Malrotat... ORPHA:264450
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Fraser Syndrome 1
Encephalocele, Hydrocephalus, Myelomeningocele, Cleft palate, Abnormality of the anus, Abnormal s... OMIM:219000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Hydrocephalus, Severe postnatal growth retardation, Intrauterine growth ... OMIM:194190
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft palate, High palate, Cryptorchidism ORPHA:2953
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Protein-losing enteropathy, Esophageal varix, Pancreatic cysts, Bili... ORPHA:731
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, ... OMIM:265380
Rhizomelia, Gastroesophageal reflux, Hypoplasia of the ovary, Hypoplastic nipples, Bifid uvula, V... ORPHA:79328
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Gastritis, Anoperineal fistula, Crohn's disease, Weight loss, Co... OMIM:619381
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula, Intrauterine growth retardation ORPHA:90349
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Enterocolitis, Hematochezia, Ileitis... ORPHA:73263
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Intestinal malrotation, Cleft palate, Abnormal duodenum morphology, Cryptorchidism, ... OMIM:601776
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Steatorrhea, Abnormality of the gastrointe... ORPHA:811
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Spina bifida, Short stature, Cleft palate, Eosinophilia, Pancreatic cysts OMIM:274000
Genitopatellar Syndrome
Anal stenosis, Anal atresia, Colpocephaly, Dysphagia, Agenesis of corpus callosum, Malrotation of... OMIM:606170
Down Syndrome
Aganglionic megacolon, Anal atresia, Protruding tongue, Short stature, Duodenal stenosis, Macrogl... OMIM:190685
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Postnatal growth retardation, Small bowel diverticula ORPHA:90348
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Liver Disease, Severe Congenital
Protein-losing enteropathy, Chronic gastritis, Pancreatic hypoplasia, Biliary hyperplasia, Failur... OMIM:619991
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Meckel diverticulum, Hydrocephalus, Exaggerated median tongue furrow, Anal atresia... OMIM:312870
Hemolytic anemia, Methemoglobinemia ORPHA:56
Hematemesis, Glossitis, Inflammation of the large intestine, Enterocolitis, Ileitis ORPHA:707


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 Usp22

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 Usp22.

There are 14 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
USP22 overexpression fails to augment tumor formation in MMTV-ERBB2 mice but loss of function impacts MMTV promoter activity. PloS one (January 2024) Usp22tm1c(KOMP)Wtsi Usp22tm1a(KOMP)Wtsi PMC10796002
Usp22 is an intracellular regulator of systemic emergency hematopoiesis. Science immunology (December 2022) Usp22tm1c(KOMP)Wtsi 36490327
Histone H2Bub1 deubiquitylation is essential for mouse development, but does not regulate global RNA polymerase II transcription. Cell death and differentiation (March 2021) Usp22tm1a(KOMP)Wtsi PMC8329007
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Usp22tm1a(KOMP)Wtsi PMC7263671
USP22 controls iNKT immunity through MED1 suppression of histone H2A monoubiquitination. The Journal of experimental medicine (May 2020) Usp22tm1c(KOMP)Wtsi PMC7201925
CRISPR screen in regulatory T cells reveals modulators of Foxp3. Nature (April 2020) Usp22tm1c(KOMP)Wtsi Usp22tm1a(KOMP)Wtsi 32499641
USP22-dependent HSP90AB1 expression promotes resistance to HSP90 inhibition in mammary and colorectal cancer. Cell death & disease (December 2019) Usp22tm1a(KOMP)Wtsi PMC6892875
USP22 exerts tumor-suppressive functions in colorectal cancer by decreasing mTOR activity. Cell death and differentiation (September 2019) Usp22tm1c(KOMP)Wtsi Usp22tm1a(KOMP)Wtsi 31527800
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)