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Gene: B4galnt2 MGI:1342058

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

beta-1,4-N-acetyl-galactosaminyl transferase 2

Synonyms:

Dlb1, Galgt2, Dlb-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 B4galnt2 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.

Human diseases associated with B4galnt2 (0 diseases)
Human diseases predicted to be associated with B4galnt2 (178 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to B4galnt2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen...	OMIM:308240
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Macrocytic anemia, Anemia of inadequate productio...	ORPHA:98826
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Absent circulating B cells, Decreased propo...	OMIM:619705
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of...	OMIM:615513
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia, Neutropenia	OMIM:616949
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb...	OMIM:616216
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con...	OMIM:619313
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Reduced circulating C-reactive protein concecntration, Decreased proportion of class-switched mem...	OMIM:618944
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Relapsing Fever	Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,...	ORPHA:91547
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Hypertension	OMIM:184850
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count	OMIM:613496
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D...	OMIM:619846
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells	OMIM:618982
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Lymphopenia, T lymphocytopenia, B lymphocytopenia	ORPHA:277
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr...	OMIM:607594
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Elevated prop...	OMIM:603909
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos...	OMIM:618534
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level	OMIM:620125
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen...	OMIM:618986
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Idiopathic Aplastic Anemia	Epistaxis, Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thr...	ORPHA:88
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Elevated circulating...	OMIM:618048
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:3226
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Hyperekplexia 3	Syncope, Exaggerated startle response	OMIM:614618
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive prote...	ORPHA:36238
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerat...	OMIM:608643
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Pulmonary hemorrhage, Hepatosplenomegaly, Thrombocytopenia, Monoc...	OMIM:619644
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Neutrophilia, Elevated ci...	OMIM:617099
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P...	OMIM:300835
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Anemia, Liver...	ORPHA:54251
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell...	OMIM:619652
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia...	ORPHA:90041
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk...	ORPHA:508542
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response	ORPHA:309155
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Adult-Onset Still Disease	Bone marrow hypocellularity, Abnormal circulating lipid concentration, Increased circulating ferr...	ORPHA:829
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, B lymphocytopenia, Neutropenia, Cerebral hemorrhage	OMIM:301081
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Portal hyperten...	ORPHA:79124
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hematochezia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hem...	OMIM:620565
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia	OMIM:608800
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Activated Pi3K-Delta Syndrome	Splenomegaly, B lymphocytopenia	ORPHA:397596
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t...	OMIM:602450
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevate...	ORPHA:3243
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m...	OMIM:614700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Sandhoff Disease	Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response	OMIM:268800
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Dilated cardiomyopathy, Pulmonic stenosis, Elevated circulating cre...	OMIM:253800
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth...	ORPHA:99827
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy...	ORPHA:845
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-...	ORPHA:3261
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycinemia, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernatremia	OMIM:620423
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ...	OMIM:249100
Selective Igm Deficiency	Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi...	ORPHA:331235
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Yellow Fever	Neutrophilia, Shock, Reduced left ventricular ejection fraction, Elevated circulating creatinine ...	ORPHA:99829
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Cardiomyopathy, Exaggerated startle response	ORPHA:79255
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Pulmonary...	ORPHA:391487
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient isc...	ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Exaggerated startle response	OMIM:620451
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Asparagine Synthetase Deficiency	Hypoasparaginemia, Tremor, Exaggerated startle response	OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Elevated circulating C-re...	OMIM:620376
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia	OMIM:300755
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno...	OMIM:619381
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Conjunctival telangiectasia, Thrombocytopenia, B lymphocytopenia, T ...	OMIM:251260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Exaggerated startle response, Anemia, Dystonia, Pulmoni...	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

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 B4galnt2

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 B4galnt2.

No publications found that use IMPC mice or data for B4galnt2.

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MGI Allele	Allele Type	Produced
B4galnt2^{tm86326(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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