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Gene: U2surp MGI:1915208

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Gene Summary

Name:
U2 snRNP-associated SURP domain containing
Synonyms:
2610101N10Rik

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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
preweaning lethality, complete penetrance U2surpem1(IMPC)J HOM   Early adult 0.00
decreased circulating glucose level U2surpem1(IMPC)J HET Early adult 1.43×10-07
decreased locomotor activity U2surpem1(IMPC)J HET   Early adult 6.42×10-06
decreased exploration in new environment U2surpem1(IMPC)J HET   Early adult 7.15×10-05
decreased bone mineral density U2surpem1(IMPC)J HET   Early adult 5.05×10-06
increased erythrocyte cell number U2surpem1(IMPC)J HET   Early adult 9.97×10-05
increased hematocrit U2surpem1(IMPC)J HET   Early adult 3.16×10-06

Download data as:  TSV  XLS

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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

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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Electroretinography 3

Fundus file

8 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

15 Images

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Human diseases caused by U2surp 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 U2surp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Irritability, Ataxia, Hypoglycemia OMIM:240800
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Irritability OMIM:612126
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Polycythemia OMIM:613280
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Ataxia, Reticulocytosis ORPHA:33574
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Erythroid hyperplasia, Emotional lability OMIM:300653
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Sclerosis of skull base, Throm... ORPHA:2905
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Gaisböck Syndrome
Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Incre... ORPHA:90041
Abcd Syndrome
Polycythemia OMIM:600501
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Classic Galactosemia
Ataxia, Hypoglycemia, Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral densi... ORPHA:79239
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Leukocytosis, Polycythemia, Anemia ORPHA:542643
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal ata... ORPHA:309854
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:612653
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:182900
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Ataxia, Reticulocytosis ORPHA:713
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Fumarase Deficiency
Polycythemia OMIM:606812
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly... ORPHA:822
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Ogden Syndrome
Maternal diabetes, Iron deficiency anemia, Irritability, Polycythemia, Thrombocytopenia OMIM:300855
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia OMIM:618838
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Ataxia, Elevated hemoglobin A1c, Hypoglycemia OMIM:616113
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis OMIM:232800
Harderoporphyria
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Hyperinsulinemic hypoglycemia, Abnormality o... ORPHA:2968
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Beckwith-Wiedemann Syndrome
Splenomegaly, Polycythemia, Neonatal hypoglycemia, Hypoglycemia ORPHA:116
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Cognitive impairment, Thrombo... OMIM:235400
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Normochromic anemia, Reduced hematocrit ORPHA:91500
Telangiectasia, Hereditary Hemorrhagic, Type 2
Polycythemia, Anemia OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1
Polycythemia, Anemia OMIM:187300
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... ORPHA:79277
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Irritability, Microangiopathic hemolytic anemia, T... ORPHA:90038
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330

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 U2surp

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 U2surp.

No publications found that use IMPC mice or data for U2surp.

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MGI Allele Allele Type Produced
U2surptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
U2surpem1(IMPC)J Exon Deletion Mice
U2surptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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