Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
glucosaminyl (N-acetyl) transferase 1, core 2
Synonyms:
C2 GlcNAcT,  beta-1, 6-N-acetylglucosaminyltransferase,  5630400D21Rik,  IGnT

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Gcnt1 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 Gcnt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 50
Neutropenia, Eczema, Lymphopenia OMIM:300988
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis ORPHA:26137
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent otitis media OMIM:616022
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Neutropenia, Chronic Familial
Neutropenia, Periodontitis OMIM:162700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Inflammati... OMIM:619281
Immunodeficiency 69
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Skin rash OMIM:618963
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent otitis media OMIM:613501
Trimethylaminuria
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Neutropenia, Abnormal T cell morphology, Chronic sin... OMIM:613502
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Decreased CD4:CD8 ratio, Decrease... OMIM:615518
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Monocytopenia, Aplastic a... OMIM:614172
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Recurrent skin infections, Abnormal natural killer cell count, ... OMIM:612260
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Recurrent aphthous stomatitis, Arthritis, Skin rash OMIM:611762
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia, Chronic oral candidiasis, Conjunctivitis OMIM:616740
Immunodeficiency 27A
Leukocytosis, Hepatosplenomegaly, Histiocytosis, Pneumonia, Thrombocytosis, Increased inflammator... OMIM:209950
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Periodontitis, Neutrophilia OMIM:266265
Immunodeficiency 92
Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Thrombocytosis, Osteomyelitis, B ly... OMIM:619652
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Skin rash OMIM:120100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Recurrent otitis media, Leukopenia, Impaired neutrophil chemotax... OMIM:618986
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia, Oligoarthritis, Psoriasiform dermatitis, Pustule OMIM:614204
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Cinca Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Uveitis, Anemia, Arthritis, Skin rash OMIM:607115
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Bronchiectasis, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Arthritis, Skin rash ORPHA:37748
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Adult Idiopathic Neutropenia
Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Recurrent sinusitis, Increased mean corpuscular... OMIM:618849
Tularemia
Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous abscess, Inflammatory abnormality of the eye... ORPHA:3392
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Recurrent skin infections, Splenomegaly, Anemia, Extramedullary... OMIM:612840
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... ORPHA:486
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Myocarditis, Hepatitis, Pe... ORPHA:829
Slc35A1-Cdg
Pneumonia, Giant platelets, Abnormal platelet granules, Neutropenia, Thrombocytopenia ORPHA:238459
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Muckle-Wells Syndrome
Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis OMIM:191900
Sweet Syndrome
Sterile abscess, Myositis, Leukocytosis, Acne inversa, Neutrophilia, Acute myeloid leukemia, Acne... ORPHA:3243
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Acne, Osteomyelitis, Synovitis, Inflam... ORPHA:77297
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Pneumonia, Splenomegaly, Anemia, Thyr... ORPHA:39041
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Panniculitis, Increased proportion of CD4-positive T cells, Skin rash OMIM:617099
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Maculopapular exanthema, ... OMIM:619644
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... ORPHA:331206
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Leukocytosis, Leukemia, Hepatosplenomegaly, Maculopa... ORPHA:98850
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis ORPHA:676
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Anemia, Allergic rhinitis, Atopic dermatitis ORPHA:2070
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Infectious encephalitis, Myocarditis, N... ORPHA:292
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Bronchiectasis, Neutropenia, Recurre... OMIM:601495
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Osteomyelitis, Pustule, Stomatitis, Abscess, Skin rash OMIM:612852
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Anemia, Seborrheic dermatitis, Stomatitis, Thrombocytopenia OMIM:246400
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Periodontitis, Leukocytosis, Rectal abscess OMIM:116920
Cogan Syndrome
Leukocytosis, Uveitis, Inflammatory abnormality of the eye, Thrombocytosis, Scleritis, Episclerit... ORPHA:1467
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... OMIM:300908
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Lymphadenitis, Leukocytosis OMIM:618886
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Pneumonia, Neutrophilia, Acute infectious pneumonia ORPHA:36238
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Sinusitis, Myositis, Recurrent skin infections, Pneumo... ORPHA:36234
Pneumocystosis
Abnormal neutrophil count, Chronic oral candidiasis, Interstitial pneumonitis, Acute infectious p... ORPHA:723
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Chronic irritative conjunctivitis, Lymphocytosis OMIM:258360
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly, Chronic oral candidi... OMIM:260920
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Per... OMIM:249100
Relapsing Fever
Leukocytosis, Leukopenia, Neutrophilia, Anemia, Thrombocytopenia ORPHA:91547
Pyomyositis
Myositis, Recurrent cutaneous abscess formation, Leukocytosis ORPHA:764
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Lung abscess, Acute colitis, Anemia, Liver abscess ORPHA:67
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Brucellosis
Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess, Hypersplenism, Thrombocytop... ORPHA:1304
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Leukocytosis, Uveitis, Arthritis, Orchitis, Peritonitis, Splenomegaly, Peri... ORPHA:32960
Urachal Cyst
Peritonitis, Leukocytosis, Abscess ORPHA:488
Leukocyte Adhesion Deficiency
Recurrent aphthous stomatitis, Vaginitis, Abnormality of neutrophil physiology, Otitis media, Con... ORPHA:2968
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hashimoto thyroiditis, Abnormal B cell morphology OMIM:618223
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Recurrent pneumonia, Leukocytosis, Neutrophilia, Anemi... ORPHA:99843
Gaisböck Syndrome
Increased hematocrit, Cholecystitis, Increased mean corpuscular hemoglobin concentration, Increas... ORPHA:90041
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Acute pancreatitis, Leukocytosis, Leukopenia, Erythema nodosum, Parotitis, Orchitis... ORPHA:99827
Yellow Fever
Acute pancreatitis, Leukocytosis, Neutrophilia, Thrombocytopenia, Skin rash ORPHA:99829

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 Gcnt1

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 Gcnt1.

No publications found that use IMPC mice or data for Gcnt1.

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MGI Allele Allele Type Produced
Gcnt1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gcnt1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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