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Gene: Trim56 MGI:2685298

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Gene Summary

Name:
tripartite motif-containing 56
Synonyms:
LOC384309,  RNF109,  A130009K11Rik

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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
decreased circulating HDL cholesterol level Trim56tm1a(EUCOMM)Wtsi HOM Early adult 4.83×10-06
decreased regulatory T cell number Trim56tm1a(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating iron level Trim56tm1a(EUCOMM)Wtsi HOM Early adult 1.47×10-06
increased circulating iron level Trim56tm1a(EUCOMM)Wtsi HOM Early adult 6.76×10-06
increased grip strength Trim56tm1a(EUCOMM)Wtsi HOM Early adult 1.06×10-05
decreased circulating glucose level Trim56tm1a(EUCOMM)Wtsi HOM   Early adult 9.73×10-05
decreased body length Trim56tm1a(EUCOMM)Wtsi HOM   Early adult 8.03×10-06
decreased circulating cholesterol level Trim56tm1a(EUCOMM)Wtsi HOM Early adult 6.28×10-06

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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 Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral 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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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Trim56tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Trim56tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Trim56tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Trim56tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Trim56tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 70 images

Trim56tm1a(EUCOMM)Wtsi
fused cornea and lens, HOM, Female, WTSI

Human diseases caused by Trim56 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 Trim56 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia OMIM:232700
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Type II diabetes me... OMIM:620121
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly OMIM:610539
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hemochromatosis, Type 5
Elevated transferrin saturation, Abnormal circulating copper concentration, Anemia, Increased ser... OMIM:615517
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Anemia ORPHA:75563
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hypertriglyceridemia, Decre... OMIM:615558
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Hypercholeste... OMIM:620211
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... OMIM:206100
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal transferrin saturation, Elevated hepatic i... ORPHA:254704
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum iron, Increased serum pyruvate OMIM:603358
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati... OMIM:231100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia OMIM:610021
Glycogen Storage Disease Ixa1
Hyperuricemia, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia OMIM:306000
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Diabetes mellitus, Elevated transferrin saturation, Increased ci... ORPHA:79230
Growth Hormone Insensitivity Syndrome
Diabetes mellitus, Type II diabetes mellitus, Insulin resistance, Hypercholesterolemia, Hypoglycemia ORPHA:181393
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Diabetes mellitus, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Insulin ... OMIM:612526
Hemochromatosis, Type 4
Elevated transferrin saturation, Impaired glucose tolerance, Anemia, Diabetes mellitus, Glucose i... OMIM:606069
Hemochromatosis, Type 3
Elevated transferrin saturation, Anemia, Lymphopenia, Increased serum iron, Increased circulating... OMIM:604250
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Increased circulating farnesol concentration, Hypocholes... OMIM:618156
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Hemochromatosis, Type 2B
Elevated transferrin saturation, Anemia, Increased serum iron, Increased circulating ferritin con... OMIM:613313
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Acanthocytosis ORPHA:71
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Decreased LDL cholesterol concentration, Abetalipoproteinemia, A... ORPHA:96180
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Aceruloplasminemia
Anemia, Diabetes mellitus, Increased circulating ferritin concentration, Decreased serum iron, Ac... OMIM:604290
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Increase... OMIM:615234
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Hypoglycemia ORPHA:664
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating fumarate concentration, Hyperalaninemia, Elevated circulatin... OMIM:615160
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Hyperkalemia OMIM:240200
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Glycogen Storage Disease Ixb
Hyperuricemia, Hypoglycemia, Splenomegaly OMIM:261750
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hyperkalemia, Hyponatremia, Decreased circulating c... ORPHA:199296
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... ORPHA:848
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol ... OMIM:618838
Alg12-Cdg
Recurrent hypoglycemia, Thrombocytopenia, B lymphocytopenia, Hypocholesterolemia, Hyponatremia, H... ORPHA:79324
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Iron deficiency anemia, Increased to... OMIM:616278
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Splenomegaly, Increased... OMIM:615513
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Decreased tra... ORPHA:300298
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Abnormal erythrocyte morphology, Hyperbilirubinemia, Increased mean corpusc... ORPHA:98870
Tangier Disease
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypocholesterolemia ORPHA:31150
Abetalipoproteinemia
Reticulocytosis, Anemia, Steatorrhea, Decreased LDL cholesterol concentration, Acanthocytosis, Hy... ORPHA:14
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Fasting hypoglycemia, Splenomegaly, Hypoglycemia OMIM:613027
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean... ORPHA:231222
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hypocholesterolemia, Thrombocytosis, Hypoalbuminemia OMIM:212065
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... ORPHA:90363
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperglycemia, Type II diabetes me... OMIM:615812
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... OMIM:207750
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Symptomatic Form Of Hfe-Related Hemochromatosis
Elevated transferrin saturation, Diabetes mellitus, Hyperglycemia, Increased circulating ferritin... ORPHA:465508
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hypoglycemia OMIM:616026
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Polycythemia, Hypermangan... OMIM:613280
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Dubowitz Syndrome
Hypocholesterolemia, Acute lymphoblastic leukemia, Aplastic anemia OMIM:223370
Dietary Iron Overload Disease
Elevated transferrin saturation, Diabetes mellitus, Increased circulating cortisol level, Increas... ORPHA:139507
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Lymphopenia, Reduced natural killer cell count, Decreased... OMIM:619510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia OMIM:601457
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia OMIM:618108
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Aceruloplasminemia
Diabetes mellitus, Decreased circulating copper concentration, Refractory anemia, Increased circu... ORPHA:48818
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean... ORPHA:231226
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Beta-Thalassemia Major
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Diabetes mellitus, Decreas... ORPHA:231214
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Elliptocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis, Decrease... OMIM:616959
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Autoimmune hemolytic anemia, B lym... OMIM:606367
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Absent natural killer cells, Hemophagocytosis, Aplastic anemia, Granulomatosi... ORPHA:2442
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Decreased pro... ORPHA:443811
Ataxia-Telangiectasia
Hypoplasia of the thymus, Elevated circulating alpha-fetoprotein concentration, Leukemia, Acute l... OMIM:208900
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia OMIM:615966
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of... OMIM:242700
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia, Splenomegaly, Hypoalbuminemia OMIM:270400
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal transferrin saturation, Abnormal blood inorganic cation concentration, Polycythemia, Inc... ORPHA:309854
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Apl... ORPHA:83471
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Abnormal lymphocyte count, Anemia, Ab... ORPHA:79124
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Increased mean platelet volume, Thrombocytosis, Abnorma... OMIM:222470
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Abnormal erythrocyte en... ORPHA:447
Syndromic Diarrhea
Hypoplasia of the thymus, Lymphopenia, Increased mean platelet volume, Thrombocytosis, Abnormalit... ORPHA:84064
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absen... OMIM:600802
Immunodeficiency 40
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Progeria-Short Stature-Pigmented Nevi Syndrome
Insulin-resistant diabetes mellitus, Microcytic anemia, T lymphocytopenia ORPHA:2959
Vici Syndrome
Leukopenia, Neutropenia, Lymphopenia, Elevated circulating creatine kinase concentration, Decreas... OMIM:242840
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural ki... ORPHA:35078
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic an... OMIM:615607
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... ORPHA:391487
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased pr... ORPHA:508533
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, Decreased proportion of naive T cel... OMIM:619381
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia OMIM:607944
Agammaglobulinemia, X-Linked
Neutropenia, Anemia, B lymphocytopenia, T lymphocytopenia OMIM:300755
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia OMIM:251260
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223

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 Trim56

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 Trim56.

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) Trim56tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Trim56tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Trim56tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Trim56tm1a(EUCOMM)Wtsi PMC6459510
TRIM56-mediated monoubiquitination of cGAS for cytosolic DNA sensing. Nature communications (February 2018) Trim56tm1a(EUCOMM)Wtsi PMC5807518
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017)