Not currently registered for phenotyping at IMPC

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

Gene Summary

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
B3gnt1,  B3Galt6

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 B3gnt2 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 B3gnt2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Geniospasm 1
Anxiety OMIM:190100
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Dermoid Cysts, Familial Frontonasal
Wide nasal bridge, Papilledema, Nasal congestion, Anosmia, Deviated nasal septum OMIM:600679
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hyposmia OMIM:615267
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Chorea, Benign Hereditary
Anxiety OMIM:118700
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Short nose, Depressed nasal bridge, Short nasal septum OMIM:302950
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614838
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia, Abnormal autonomic nervous system physiology OMIM:243000
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Anosmia, Hyposmia OMIM:608720
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Abnormal motor neuron morphology OMIM:613724
Myoclonus-Dystonia Syndrome
Panic attack, Anxiety, Depression, Personality disorder ORPHA:36899
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Anosmia, Wide nasal bridge OMIM:210745
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia OMIM:610628
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Hyposmia OMIM:144755
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia, Abnormal fifth cranial nerve morphology ORPHA:91412
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia OMIM:244200
Solitary Median Maxillary Central Incisor
Midnasal stenosis, Pyriform aperture stenosis, Abnormal nasopharynx morphology, Choanal atresia, ... OMIM:147250
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia OMIM:147950
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Abnormality of the nares ORPHA:1295
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Johnson Neuroectodermal Syndrome
Anosmia, Facial palsy, Patent ductus arteriosus, Choanal stenosis OMIM:147770
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Recurrent bronchitis, Chronic rhinitis, Absent outer dynein arms, Anosmia OMIM:244400
Johnson Neuroectodermal Syndrome
Anosmia, Choanal atresia, Bulbous nose, Facial palsy ORPHA:2316
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Anosmia, Optic atrophy OMIM:601152
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Huntington Disease
Abnormality of the sense of smell ORPHA:399
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Chronic rhinitis, Nasal polyposis, Recurrent bronc... OMIM:242680
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Bardet-Biedl Syndrome 17
Anosmia, Hyposmia OMIM:615994
Refsum Disease, Classic
Anosmia OMIM:266500
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:70578
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Abnormality of the sense of smell ORPHA:2189
Ciliary Dyskinesia With Defective Radial Spokes
Chronic rhinitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Acute Lung Injury
Abnormality of serum cytokine level, Increased circulating interleukin 6, Abnormality of tumor ne... ORPHA:178320
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia OMIM:308700
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Nasal polyposis OMIM:617092
Ciliary Dyskinesia, Primary, 42
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis OMIM:618695
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced natural killer ... ORPHA:540
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Wide nose, Underdeveloped nasal alae ORPHA:284160
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Ciliary Dyskinesia, Primary, 5
Rhinitis, Nasal polyposis, Recurrent sinusitis, Recurrent bronchitis OMIM:608647
Refsum Disease
Anosmia ORPHA:773
Kallmann Syndrome With Spastic Paraplegia
Anosmia OMIM:308750
Congenital Hypothyroidism
Depressed nasal ridge, Anosmia, Optic atrophy ORPHA:442
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Anosmia, Hyposmia, Single naris ORPHA:2250
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Recurrent bronchitis OMIM:604571
Macrophage Activation Syndrome
Increased circulating interleukin 6, Increased serum interferon-gamma level, Abnormality of tumor... ORPHA:158061
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Anosmia, Septo-optic dysplasia ORPHA:3157
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge, Patent ductus arteriosus ORPHA:251066
Young-Onset Parkinson Disease
Hyposmia, Abnormal autonomic nervous system physiology ORPHA:2828
Ciliary Dyskinesia, Primary, 30
Nasal congestion, Absent outer dynein arms, Nasal polyposis OMIM:616037
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis OMIM:155145
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Anosmia OMIM:613266
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Long-segment aganglioni... OMIM:609136
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Midline defect of the nose ORPHA:1993
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Abnormality of neuronal migration, Depressed nasal ridge, Optic atrophy, Aplasia/Hypoplasia invol... ORPHA:2162
Immunodeficiency 13
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusitis OMIM:615518
Ciliary Dyskinesia, Primary, 22
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Kallmann Syndrome
Anosmia, Hyposmia ORPHA:478
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Superficial Siderosis
Dysgyria, Partial anosmia, Abnormality of the brachial nerve plexus, Anosmia, Abnormality of the ... ORPHA:247245
Moebius Syndrome
Abnormality of the sense of smell, Facial palsy ORPHA:570
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Hyposmia ORPHA:411602
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Ciliary Dyskinesia, Primary, 2
Absent inner and outer dynein arms, Nasal polyposis OMIM:606763
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Aplasia of the nose OMIM:603457
Ciliary Dyskinesia, Primary, 15
Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Facial palsy, Hyposmia ORPHA:68
Abnormality of the sense of smell, Facial palsy, Papilledema ORPHA:2495
Sweet Syndrome
Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser... ORPHA:3243
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Facial palsy, Abnormality of peripheral... ORPHA:252164
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Charge Syndrome
Optic atrophy, Abnormal cranial nerve morphology, Depressed nasal bridge, Facial palsy, Patent du... ORPHA:138
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Lipoid Proteinosis
Nasal polyposis ORPHA:530
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia, Patent ductus arteriosus ORPHA:2363
Peutz-Jeghers Syndrome
Nasal polyposis, Neoplasm of the nose, Abnormality of the nose ORPHA:2869
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Primary Ciliary Dyskinesia
Nasal congestion, Chronic rhinitis, Nasal polyposis ORPHA:244
Charge Syndrome
Choanal atresia, Anosmia, Facial palsy, Patent ductus arteriosus OMIM:214800
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis ORPHA:183
Peutz-Jeghers Syndrome
Nasal polyposis OMIM:175200
Cystic Fibrosis
Nasal polyposis OMIM:219700
Abnormal nasal mucosa morphology, Facial palsy ORPHA:797


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 B3gnt2

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 B3gnt2.

No publications found that use IMPC mice or data for B3gnt2.

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MGI Allele Allele Type Produced
B3gnt2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
B3gnt2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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