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:
IGnTB,  5330430K10Rik,  IGnTA,  IGnT,  IGnTC

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
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Increased blood ur... OMIM:612926
Azotemia, Familial
Azotemia OMIM:109160
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Glomerulonephr... OMIM:607665
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries, Acute kidney injury, Proteinur... ORPHA:275555
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Proteinur... ORPHA:567544
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Hematuria, Nephrolithiasis, Renal insuff... OMIM:614723
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Elevated circulating creatinine concentration, Nephrolithiasis, Di... OMIM:179800
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Protein... OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic s... OMIM:235400
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... ORPHA:231111
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Hematuria, Hyperuricosuria, Increased blood urea nitr... ORPHA:94088
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Proteinuria, Renal insufficiency, Ret... ORPHA:54057
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Renal insufficiency, ... OMIM:613095
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Elevated circulating creatinine concentration, Renal in... OMIM:619468
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
C3 Glomerulopathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Acute kidney injury... ORPHA:329918
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation OMIM:616733
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... ORPHA:49041
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Leukoc... ORPHA:91547
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Macroscopic hematuria... ORPHA:251004
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... OMIM:123550
Uremic Pruritus
Stage 5 chronic kidney disease, Hypercalcemia, Increased blood urea nitrogen, Chronic kidney dise... ORPHA:94059
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Hydronephrosis, Elevated circulating creatinine concentration, Ure... OMIM:154230
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Pancytopenia, Proteinuria, Anemia, Reduced haptoglobin level, Thrombocytopenia, Leuko... ORPHA:447
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia,... OMIM:603554
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Autosomal Dominant Polycystic Kidney Disease
Renal cyst, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentration, Pancr... ORPHA:730
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine, Increased blood urea ni... ORPHA:230
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Anemia, Thro... ORPHA:90060
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Glomerular sclerosis, Elevated circulating creatinine concentratio... OMIM:223900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Decreased plasma total carnitine, Elevated circulating creatinine concentration,... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Renal hypoplasia, Glomerulonephritis,... OMIM:614376
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, B lymphocytopenia, Absent circulating B cells, Decreased proportion of class-switche... OMIM:619705
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Cockayne Syndrome Type 1
Proteinuria, Increased blood urea nitrogen, Ataxia, Anemia, Gait disturbance, Renal insufficiency... ORPHA:90321
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Mu-Heavy Chain Disease
Splenomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Nephropathy ORPHA:100024
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Renal Fanco... ORPHA:411634
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria,... ORPHA:439232
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Unilateral renal agenesis, Renal cyst, Glycosuria, Elevated circulating creatini... OMIM:137920
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Decreased urine output, Acute ... ORPHA:542323
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Normocytic anemia, Elevated circulating creatinine concentration, Proteinur... ORPHA:247691
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Structural Heart Defects And Renal Anomalies Syndrome
Webbed neck, Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, B lymphocytopenia, Perianal abscess, Reduced natural killer cell count OMIM:618108
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, Ataxia, Aminoaciduria, B ly... OMIM:616084
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Proteinuria, Acute kidney in... ORPHA:93126
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Hypotriglyceridemia, Iron deficiency anemia, Urinary incontinence, De... OMIM:618885
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune... OMIM:102700
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Igg4-Related Kidney Disease
Urinary bladder inflammation, Eosinophilia, Enlarged kidney, Decreased retinol-binding protein le... ORPHA:449395
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Leukocytosis, Elevated circulating creatinine conce... ORPHA:340
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Hyponatremia, Autoimmune thrombocytopenia, Severe B lymphocytopen... ORPHA:293978
X-Linked Lymphoproliferative Disease
Pancytopenia, Increased circulating ferritin concentration, T lymphocytopenia, Hepatosplenomegaly... ORPHA:2442
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Nephritis, Rena... OMIM:104200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Goodpasture Syndrome
Proteinuria, Increased blood urea nitrogen, Glomerulonephritis, Macroscopic hematuria, Anemia, Cy... OMIM:233450
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Decreased proportion of CD4-positive helper T cells, Ataxia, Psoriasif... ORPHA:221139
Yellow Fever
Leukocytosis, Elevated circulating creatinine concentration, Acute kidney injury, Anuria, Neutrop... ORPHA:99829
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal Fanconi syndrome, Elevated circulating creatinine concentration, Normocytic anemia, Beta 2-... ORPHA:91500
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... ORPHA:508542
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Hepatosplenomegaly, Absent natural killer cells, Impaired lymphocyte transform... ORPHA:35078
Alg12-Cdg
Hyponatremia, Micropenis, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopen... ORPHA:79324
Nijmegen Breakage Syndrome
T lymphocytopenia, Hydronephrosis, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Functional abnormality of the bladder, Autoimmune hemolytic anemia, Autoimmun... ORPHA:391487
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Rectal abscess OMIM:601495
Agammaglobulinemia, X-Linked
Neutropenia, Anemia, T lymphocytopenia, B lymphocytopenia OMIM:300755
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Hydronephrosis, B lymphocytopenia, Severe B lymphocytopenia ORPHA:83617
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells OMIM:307200
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) ES Cells

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