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 2, I-branching enzyme
Synonyms:
IGnTC,  IGnTB,  IGnTA,  5330430K10Rik,  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 Gcnt2 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.

The table below shows human diseases associated to Gcnt2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 13 With Adult I Phenotype
OMIM:116700

The table below shows human diseases predicted to be associated to Gcnt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,... OMIM:612926
Azotemia, Familial
Azotemia OMIM:109160
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial... OMIM:607665
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Dystonia, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinin... ORPHA:79233
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Glomerulonephritis, Microscop... ORPHA:567544
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Hereditary Renal Hypouricemia
Abnormal renal physiology, Mild proteinuria, Hematuria, Increased blood urea nitrogen, Acute kidn... ORPHA:94088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Acute kidney injury, Reticulocy... OMIM:235400
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Thrombocytopenia, Chronic kid... ORPHA:275555
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive prote... ORPHA:231111
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration OMIM:616733
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Increased blood urea nitrogen, Acute kidney inju... ORPHA:49041
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Leukocytosis, Elevated circulating cre... ORPHA:91547
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Elevated circulating creatinine concentration, Polycystic kidney dysplasia, ... OMIM:613095
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Chronic ki... ORPHA:94059
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Nocturia, Elevated circulating creatini... ORPHA:230
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Diffuse Alveolar Hemorrhage
Hematuria, Leukocytosis, Elevated circulating creatinine concentration, Thrombocytopenia, Anemia,... ORPHA:90060
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Difficulty walking, Gait disturbance, Ataxia, Anemia, Renal insuff... ORPHA:90321
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Mu-Heavy Chain Disease
Nephropathy, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly ORPHA:100024
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Acute kidney injury, Reticulocytosis, Leukocytosis, Elevated c... ORPHA:90038
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Oligomeganephronia
Decreased numbers of nephrons, Elevated circulating creatinine concentration, Unilateral renal ag... ORPHA:2260
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic kidney disease, Abno... ORPHA:439232
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Glomerular sclerosis, Nephropathy, Normocytic anem... ORPHA:247691
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute ... ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Renal hypoplasia, Elevated circulating creatinine concentration, U... OMIM:137920
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Elevated circulating creatinine concentration, ... ORPHA:93126
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Hyperproteinemia, Nephropathy... ORPHA:29073
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Aminoaciduria, Ataxia, Sideroblastic anemia, B lymphocytopenia, Sp... OMIM:616084
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Urinary incontinence, Decreased serum creatinine, De... OMIM:618885
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Structural Heart Defects And Renal Anomalies Syndrome
Webbed neck, Elevated circulating creatinine concentration, Renal cyst, Renal insufficiency OMIM:617478
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Hyponatrem... ORPHA:293978
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Increased proportion of CD25+ mast c... ORPHA:2442
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia, Hematuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephro... OMIM:104200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Goodpasture Syndrome
Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Glomerulonephritis, Macrosco... OMIM:233450
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Unilateral renal agenesis, Abnormal T cell s... ORPHA:221139
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Thymoma
Hemolytic anemia, Abnormal lymphocyte morphology, Pancytopenia, B lymphocytopenia, Nephrotic synd... ORPHA:99867
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Tubulointerstitial Nephritis And Uveitis Syndrome
Mild proteinuria, Renal tubular epithelial necrosis, Elevated circulating creatinine concentratio... ORPHA:91500
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Hydronephros... OMIM:251260
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Renovascular hypertension, Lymphopenia,... ORPHA:391487
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Micropenis, B lymphocytopenia, Hydronephrosis ORPHA:83617
Cataract 13 With Adult I Phenotype
OMIM:116700

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 Gcnt2

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 Gcnt2.

No publications found that use IMPC mice or data for Gcnt2.

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MGI Allele Allele Type Produced
Gcnt2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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