Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
mannoside acetylglucosaminyltransferase 5, isoenzyme B
Synonyms:
GnT-IX

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 Mgat5b 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 Mgat5b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Optic neuritis, Optic atrophy, Peripheral demyelination OMIM:165200
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Paraparetic Variant Of Guillain-Barré Syndrome
Recurrent acute respiratory tract infection, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Encephalitis OMIM:616532
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Subacute Sclerosing Panencephalitis
Encephalitis OMIM:260470
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Herpes simplex encephalitis, Gliosis OMIM:613002
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Motor conduction block, Abnormal nerve conduction velocity, Decreased n... ORPHA:2932
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Null Syndrome
Peripheral demyelination, Demyelinating peripheral neuropathy, Decreased nerve conduction velocit... ORPHA:280234
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Immunodeficiency 37
Recurrent infections, Encephalitis, Colitis OMIM:616098
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Degeneration of anterior horn cells OMIM:600333
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Neuropathy, Hereditary Motor And Sensory, Russe Type
Peripheral hypomyelination, Decreased motor nerve conduction velocity, Axonal regeneration, Decre... OMIM:605285
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... OMIM:601596
Complement Component 4B Deficiency
Meningitis, Chronic active hepatitis OMIM:614379
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Progressive Non-Fluent Aphasia
Astrocytosis, Abnormal lower motor neuron morphology ORPHA:100070
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur... OMIM:209920
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Progressive Multifocal Leukoencephalopathy
Meningitis, CNS demyelination, Abnormal oligodendroglia morphology, Abnormal astrocyte morphology ORPHA:217260
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Neuromyelitis Optica Spectrum Disorder
Myelitis, Optic neuritis, Peripheral demyelination ORPHA:71211
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decr... OMIM:609311
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pneumonia,... OMIM:307200
L-2-Hydroxyglutaric Aciduria
Encephalitis ORPHA:79314
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Foot osteomyelitis, Decreas... OMIM:600882
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:604563
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Recurrent urinary tract infections, Pneumonia, Septic arthritis, Pyode... OMIM:300755
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Gl... OMIM:247800
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Recurrent aspiration pneumonia, Recurrent infections, Gliosis ORPHA:204
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Gliosis, Decreased number of peripheral... OMIM:604484
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Gliosis, Peripheral demyelination OMIM:221770
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS ... OMIM:312080
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:609260
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an... ORPHA:411593
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Pfapa Syndrome
Recurrent pharyngitis, Encephalitis, Arthritis ORPHA:42642
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... OMIM:231095
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Nephropathy, Abnormal B cell coun... ORPHA:100024
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Segmental peripheral demyelination/remyelination, Decreased ne... OMIM:601455
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Meningitis, Fulminant hepatitis, Encephalitis, Recurrent pha... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Zika Virus Disease
Skin rash, Myelitis, Maculopapular exanthema, Conjunctivitis, Meningitis, Encephalitis, Acute dem... ORPHA:448237
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Optic atrophy ORPHA:225154
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Gliosis, Peripheral demyelination OMIM:220111
Crigler-Najjar Syndrome
Encephalitis ORPHA:205
Nipah Virus Disease
Recurrent pharyngitis, Encephalitis ORPHA:99825
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Cerebral Visual Impairment
Unusual CNS infection, Meningitis, Increased cup-to-disc ratio, Optic nerve hypoplasia, Encephali... ORPHA:447788
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Peripheral axonal degenera... OMIM:604168
Lyme Disease
Meningitis, Uveitis, Encephalitis, Arthritis ORPHA:91546
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Krabbe Disease
CNS demyelination, Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:245200
Aspergillosis
Invasive pulmonary aspergillosis, Bronchiectasis, Unusual CNS infection, Pneumonia, Meningitis, H... ORPHA:1163
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops OMIM:601382
Scrub Typhus
Skin rash, Meningitis, Encephalitis, Anterior uveitis, Myocarditis ORPHA:83317
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, R... OMIM:613493
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Severe viral infection, Recurrent urinary tract infections, Pneumonia, Se... ORPHA:36234
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Peripheral demyelination OMIM:618237
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Gliosis, Symmetric peripheral demyelination OMIM:169500
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Decreased circulating total IgM, B lymphocytopenia, De... OMIM:619281
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Foot osteomyelitis, Decre... OMIM:162400
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Peripheral demyelination OMIM:252320
Candidiasis, Familial, 2
Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Meningitis, Deep dermatophytosis OMIM:212050
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen... OMIM:193670
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Herpes simplex encephalitis OMIM:617900
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Amyloidosis of peripheral nerves, Vestibular nystagmus ORPHA:282166
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Astrocytosis OMIM:611087
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis, Tubulointerst... ORPHA:139402
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Increased circulating IgG level, Leukopenia, Type II diabetes mell... ORPHA:2298
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Rift Valley Fever
Meningitis, Encephalitis ORPHA:319251
Typhoid
Skin rash, Encephalitis ORPHA:99745
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Purulent... OMIM:601457
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Meningococcal Meningitis
Skin rash, Papilledema, Encephalitis ORPHA:33475
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
American Trypanosomiasis
Skin rash, Encephalitis, Myocarditis ORPHA:3386
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Abnormality of humoral immunity, Lymphopenia,... ORPHA:277
Immunoglobulin M, Level Of
Meningitis OMIM:308250
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Glomerulonephritis, Hy... OMIM:613496
Congenital Enterovirus Infection
Skin rash, Meningitis, Hepatitis, Encephalitis, Myocarditis ORPHA:292
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Legionnaires Disease
Endocarditis, Pericarditis, Hepatitis, Encephalitis, Pancreatitis, Myocarditis, Recurrent pharyng... ORPHA:549
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Reynolds Syndrome
Skin rash, Keratoconjunctivitis sicca, Encephalitis, Arthritis ORPHA:779
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Encephalitis ORPHA:1194
Immunodeficiency 66
Meningitis, Pustule, Recurrent skin infections OMIM:618847
Posterior Column Ataxia With Retinitis Pigmentosa
Recurrent urinary tract infections, Optic atrophy, Decreased sensory nerve conduction velocity, P... OMIM:609033
Immunodeficiency 59 And Hypoglycemia
Arteritis, Stomatitis, Herpes encephalitis, Encephalitis, Acne inversa, Recurrent skin infections OMIM:233600
Tangier Disease
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
New-Onset Refractory Status Epilepticus
Encephalitis ORPHA:363558
Avian Influenza
Myelitis, Pneumonia, Meningitis, Conjunctivitis, Hepatitis, Encephalitis ORPHA:454836
Microsporidiosis
Peritonitis, Prostatitis, Nephritis, Endocarditis, Bronchiolitis, Lymphadenitis, Thyroiditis, Pne... ORPHA:2552
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Diabetic ketoacidosis, ... ORPHA:99886
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Absent isohemagglutinin level, Increased p... OMIM:615559
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, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Hartnup Disease
Skin rash, Encephalitis ORPHA:2116
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Demyelinating peripheral neuropathy, Cerebr... OMIM:609136
Whipple Disease
Pericarditis, Uveitis, Encephalitis, Myocarditis, Myositis, Arthritis ORPHA:3452
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Listeriosis
Peritonitis, Pustule, Endocarditis, Pericarditis, Pyelonephritis, Arteritis, Unusual skin infecti... ORPHA:533
Nocardiosis
Peritonitis, Cutaneous abscess, Endocarditis, Pericarditis, Scleritis, Lymphadenitis, Thyroiditis... ORPHA:31204
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Gm1 Gangliosidosis
Recurrent respiratory infections, Optic atrophy, Aspiration pneumonia, Encephalitis ORPHA:354
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia... ORPHA:86843
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Erythroderma, Maculopapular exanthema, Colitis, Encephalitis ORPHA:540
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia, Myelofibrosis OMIM:616604
Caffey Disease
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Cortical irregu... ORPHA:1310
Poliomyelitis
Meningitis, Myelitis, Encephalitis, Abnormal motor nerve conduction velocity ORPHA:2912
Q Fever
Endocarditis, Pericarditis, Cholecystitis, Maculopapular exanthema, Pneumonia, Meningitis, Hepati... ORPHA:781
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased proportion of CD3-po... ORPHA:331206
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Neurocutaneous Melanocytosis
Encephalitis ORPHA:2481
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia ORPHA:482
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Gliosis, Peripheral demyelination OMIM:252160
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action potentials, Dec... ORPHA:90103
Hemophagocytic Lymphohistiocytosis, Familial, 2
Meningitis, Skin rash, CNS demyelination, Encephalitis OMIM:603553
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Increased circula... ORPHA:443811
Neuropathy, Hereditary Sensory, Type Ie
Osteomyelitis, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Yellow Fever
Meningitis, Encephalitis ORPHA:99829
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:302800
Metachromatic Leukodystrophy
Cholecystitis, Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity OMIM:250100
Scedosporiosis
Arthralgia/arthritis, Pericarditis, Endocarditis, Fungal meningitis, Unusual skin infection, Unus... ORPHA:449280
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Zygomycosis
Peritonitis, Pustule, Nephritis, Abnormal cranial nerve morphology, Endocarditis, Pericarditis, E... ORPHA:73263
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul... OMIM:218000
Boutonneuse Fever
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG level, Leukopenia, R... ORPHA:83313
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation,... OMIM:139090
Thrombocytopenia 6
Thrombocytopenia, Myelofibrosis, Osteoporosis OMIM:616937
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Recurrent Aspergillus infections, Bronchiectasis, Recurrent upper respiratory t... ORPHA:391487
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Neutropenia, Agammaglobulinemia OMIM:601495
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Diabetes mellitus, Decreased circulating total IgM, Insulin insensiti... OMIM:602668
Chikungunya
Skin rash, Peripheral nerve compression, Maculopapular exanthema, Synovitis, Neuritis, Crusting e... ORPHA:324625
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Recurrent urinary tract infections, Encephalitis ORPHA:847
Japanese Encephalitis
Meningitis, Decreased motor nerve conduction velocity, Facial palsy, Encephalitis ORPHA:79139
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Gliosis, Peripheral demyelination OMIM:252150
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... OMIM:615490
Immunoglobulin A Vasculitis
Skin rash, Pustule, Orchitis, Episcleritis, Encephalitis, Optic atrophy, Arthritis ORPHA:761
Hemophagocytic Lymphohistiocytosis, Familial, 1
Meningitis, Encephalitis OMIM:267700
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Igg4-Related Submandibular Gland Disease
Prostatitis, Renal insufficiency, Enlarged lacrimal glands, Increased circulating IgE level, Sial... ORPHA:449432
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t... ORPHA:331235
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Co... OMIM:240500
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Lymphopenia, ... OMIM:615816
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Orchitis... ORPHA:117
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis OMIM:203700
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si... OMIM:610984
Amoebiasis Due To Free-Living Amoebae
Pustule, Unusual skin infection, Pneumonia, Facial palsy, Encephalitis, Sinusitis ORPHA:68
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Facial palsy, Motor axonal neuropathy, Decreased number of peripheral ... OMIM:256850
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Gliosis OMIM:300857
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Increased circulating IgG level, Splenomegaly, In... OMIM:617388
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Myositis, Facial palsy, Recurrent lower respiratory tract infections ORPHA:258
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Recurrent respiratory infections, Meningitis, Inflammatory abnormality of t... ORPHA:229717
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Craniosynostosis, Hypospadias OMIM:175700
Immunodeficiency 46
Meningitis, Conjunctivitis, Chronic oral candidiasis, Recurrent sinopulmonary infections OMIM:616740
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Recurrent respiratory infections, Conjunctivitis... ORPHA:33110
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Increased circulating IgE level ORPHA:217390
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Increased circulating IgE level, Decreased specific anti-pol... OMIM:606367
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Aplasia of the eccrine sweat gla... OMIM:300291
Cockayne Syndrome Type 3
Astrocytosis, Demyelinating peripheral neuropathy, Abnormal myelination, Keratoconjunctivitis sic... ORPHA:90324
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Glucose intolerance, Decreased proportion of... OMIM:208900
Essential Thrombocythemia
Abnormal platelet morphology, Myelofibrosis, Acute leukemia, Splenomegaly ORPHA:3318
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Astrocytosis, Abnormal myelination ORPHA:309854
Brucellosis
Epididymitis, Endocarditis, Pericarditis, Arteritis, Hip osteoarthritis, Orchitis, Pneumonia, Sep... ORPHA:1304
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, An... OMIM:615934
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Micropenis, Hypogonadotropic hypogonadism, Testicu... OMIM:228300
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Incontinentia Pigmenti
Skin rash, Keratitis, Uveitis, Encephalitis ORPHA:464
Alexander Disease
Facial palsy, Encephalitis ORPHA:58
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Leukodystrophy OMIM:610532
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Hypereosinophilia, ... ORPHA:74
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Cli... OMIM:246200
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia ORPHA:2688
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Acute kidney injury, Urinary bladder inflammation, D... ORPHA:449395
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... ORPHA:320406
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hypermyel... OMIM:270550
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Female external genitalia in individual w... ORPHA:168558
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating IgA l... OMIM:275350
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyp... OMIM:604367
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Multiple Myeloma
Acute kidney injury, Decreased circulating antibody level, Nephropathy, Nephrotic syndrome, Incre... ORPHA:29073
Tularemia
Skin rash, Cutaneous abscess, Pneumonia, Conjunctivitis, Meningitis, Inflammatory abnormality of ... ORPHA:3392
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Female external genitalia in individual w... ORPHA:289548
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Nephrocalcinosis, Hyperphosphaturia, Generalized aminoaciduria, Postprandia... ORPHA:2088
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... ORPHA:168563
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased urinary cortisol level, Hyperglycemia, Macronodular adrenal hyperplasia OMIM:615954
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Decreased number of peripheral... OMIM:256810
Bleeding Disorder, Platelet-Type, 17
Thrombocytopenia, Absence of alpha granules, Myelofibrosis OMIM:187900
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation ORPHA:2821
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Cinca Syndrome
Skin rash, Uveitis, Papilledema, Meningitis, Arthritis OMIM:607115
Immunodeficiency, Common Variable, 10
Hypoglycemia, Decreased circulating IgA level, Decreased circulating total IgM, Decreased circula... OMIM:615577
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Cysticercosis
Iridocyclitis, Encephalitis ORPHA:1560
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Central Precocious Puberty
Meningitis, Acne ORPHA:759
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Stomatitis, Peripheral demyelination, Severe demyelination of the white matter ORPHA:79282
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Glomerulonephritis, Spleno... ORPHA:2137
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Encephalitis, Ganglioneuroma, Recurrent upper respi... ORPHA:293987
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Peripheral axo... OMIM:208920
Peho Syndrome
Peripheral dysmyelination, Optic atrophy OMIM:260565
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Demyelina... ORPHA:298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Ketonuria, Glycosuria ORPHA:2089
X-Linked Agammaglobulinemia
Skin rash, Chronic otitis media, Sinusitis, Conjunctivitis, Meningitis, Hepatitis, Recurrent cuta... ORPHA:47
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased p... ORPHA:221139
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Immunodeficiency 68
Lymphadenitis, Recurrent meningitis, Recurrent skin infections, Septic arthritis OMIM:612260
Bloom Syndrome
Cryptorchidism, Azoospermia, Decreased circulating IgA level, Type II diabetes mellitus, Decrease... OMIM:210900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atopic dermatitis, Abnormal motor nerve conduction velocity, Abnormal myelination, Sensory axonal... ORPHA:466768
Castleman Disease
Ureteral obstruction, Hematuria, Myelofibrosis, Thrombocytopenia, Increased circulating interleuk... ORPHA:160
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Abno... ORPHA:293978
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Fusariosis
Peritonitis, Bronchiectasis, Unusual CNS infection, Panniculitis, Maculopapular exanthema, Onycho... ORPHA:228119
Neonatal Alloimmune Neutropenia
Severe infection, Meningitis, Pneumonia ORPHA:464370
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... ORPHA:254930
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Follicular Lymphoma
Meningitis ORPHA:545
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Aminoaciduria, Sideroblastic... OMIM:616084
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Anemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Increased circulating I... OMIM:600903
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, Pneumonia, Meningi... ORPHA:169090
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Testicular atrophy, Splenomegaly, Hypogonadotropic hypogonadism, Hyperglycemia, Dia... ORPHA:465508
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Bardet-Biedl Syndrome 9
Renal insufficiency, Hyperglycemia OMIM:615986
Coccidioidomycosis
Increased circulating IgM level, Osteolysis, Granuloma, Abnormal sperm morphology, Increased circ... ORPHA:228123
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Adult-Onset Still Disease
Skin rash, Pericarditis, Meningitis, Hepatitis, Myocarditis, Recurrent pharyngitis, Arthritis ORPHA:829
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope... ORPHA:99867
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Decreased number of large peripheral myelinated nerve fibers, O... ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy ORPHA:320375
Polycythemia Vera
Myelofibrosis, Acute leukemia, Splenomegaly ORPHA:729
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination ORPHA:255210
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Tick-Borne Encephalitis
Increased circulating IgM level, Leukocytosis, Abnormality of serum cytokine level, Thrombocytope... ORPHA:297
Hypocomplementemic Urticarial Vasculitis
Skin rash, Uveitis, Meningitis, Conjunctivitis, Episcleritis, Recurrent bacterial infections, Inf... ORPHA:36412
East Syndrome
Peripheral hypomyelination, Peripheral axonal neuropathy ORPHA:199343
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Autoinflammation With Infantile Enterocolitis
Meningitis, Skin rash, Enterocolitis OMIM:616050
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Decreased nerve con... OMIM:618733
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Long penis, Insulin resistance, Enlarged ovaries, Postprandial hyperglycemi... ORPHA:769
Cinca Syndrome
Retrobulbar optic neuritis, Uveitis, Meningitis, Pseudopapilledema, Inflammatory abnormality of t... ORPHA:1451
Melioidosis
Prostatitis, Cutaneous abscess, Unusual skin infection, Acute infectious pneumonia, Pneumonia, Se... ORPHA:31202
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Increased serum interferon-gamma level, Microcytic anemia, Increased circulating an... OMIM:256040
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumoni... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Proximal tubulopathy, Renal cyst, Decreased circu... OMIM:212065
Short Syndrome
Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus OMIM:269880
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level, Abnormality of the d... ORPHA:562639
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Decreased circulating IgA level, Anemia, Sple... OMIM:612301
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Myelofibrosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia... ORPHA:3260
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Ketonuria, Hypoglycemia, Hyperglycemia ORPHA:134
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency, Nephritis, Eosinophilia, Parotitis ORPHA:449427
Chronic Granulomatous Disease
Recurrent respiratory infections, Otitis media, Meningitis, Sinusitis, Eczema, Inflammatory abnor... ORPHA:379
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc... OMIM:251260
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycemia, Hypopituitarism ORPHA:90065
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis OMIM:256800
Vici Syndrome
Cutaneous anergy, Penile hypospadias, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:242840
Bloom Syndrome
Azoospermia, Insulin resistance, Decreased circulating total IgM, Decreased circulating antibody ... ORPHA:125
Cockayne Syndrome A
Peripheral dysmyelination, Patchy demyelination of subcortical white matter, Decreased nerve cond... OMIM:216400
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Arachnoiditis
Meningitis ORPHA:137817
Cockayne Syndrome B
Peripheral dysmyelination, Patchy demyelination of subcortical white matter, Decreased nerve cond... OMIM:133540
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia ORPHA:681
Mixed Connective Tissue Disease
Skin rash, Pericarditis, Meningitis, Keratoconjunctivitis sicca, Gastritis, Myocarditis, Myositis... ORPHA:809
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Cryptorchidism, Myelofibrosis OMIM:607721
Mitchell-Riley Syndrome
Hyperglycemia, Pancreatic hypoplasia, Annular pancreas, Absent gallbladder OMIM:615710
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Cholelithiasis, Biliary hyperplasia, Pancreatic hypopla... ORPHA:83617
Gorham-Stout Disease
Meningitis, Osteomyelitis ORPHA:73
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Abnormality... ORPHA:449563
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Recurrent bacterial infections, Bronchiectasis, Recurr... ORPHA:51636
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy OMIM:612780
Say-Barber-Miller Syndrome
Cryptorchidism, Craniosynostosis, Decreased circulating antibody level, Impaired neutrophil chemo... ORPHA:3132
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Recurrent infantile hypoglycemia, Insulin res... ORPHA:508
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Recurrent otitis media, Pneumonia, Meningitis, Recu... OMIM:600802
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Renal insufficiency, Postprandial hyperglycemia, Anemia ORPHA:440713
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovari... OMIM:151660
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Hyperinsulinemia, Fasting hyperinsulinemia, Ovarian neoplas... ORPHA:79474
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy, Ectopic kidney... ORPHA:3063
Charcot-Marie-Tooth Disease Type 4C
Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropathy, Onion bulb formati... ORPHA:99949
Tubulointerstitial Nephritis And Uveitis Syndrome
Mild proteinuria, Increased circulating antibody level, Reduced hematocrit, Renal tubular epithel... ORPHA:91500
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Ne... ORPHA:99885
Giant Cell Arteritis
Pericarditis, Meningitis, Recurrent pharyngitis, Optic atrophy, Arthritis ORPHA:397
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Cryptococcosis
Peritonitis, Prostatitis, Abnormal cranial nerve morphology, Pneumonia, Meningitis, Osteomyelitis ORPHA:1546
Familial Mediterranean Fever
Peritonitis, Pericarditis, Orchitis, Meningitis, Erysipelas, Crohn's disease, Arthritis OMIM:249100
Sepsis In Premature Infants
Severe infection, Meningitis, Enterocolitis, Disseminated viral infection ORPHA:90051
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Orchitis, Meningitis, Erysipelas, Pancreatitis, Osteoarthri... ORPHA:342
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Pericarditis, Increased inflammatory response, Chronic otitis media, Recu... ORPHA:900
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hyperglycemia, Hypoglycemia ORPHA:3008
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Severe viral infection, Pneumonia, Septic arthritis, Severe infection, Meningitis,... ORPHA:544482
Primary Sjögren Syndrome
Parotitis, Arteritis, Chronic active hepatitis, Thyroiditis, Optic neuritis, Chronic hepatitis, M... ORPHA:289390
Trichinellosis
Meningitis, Skin rash, Facial palsy, Conjunctivitis ORPHA:863
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Kawasaki Disease
Skin rash, Pericarditis, Cheilitis, Conjunctivitis, Meningitis, Hepatitis, Cholecystitis, Recurre... ORPHA:2331
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Chronic otitis media, Recurrent respiratory infections, Conj... ORPHA:906
Pituitary Dermoid And Epidermoid Cysts
Meningitis ORPHA:91351
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145
Primary Intestinal Lymphangiectasia
Meningitis ORPHA:90362
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Horseshoe kidney, Vesicoureteral reflux, Hypospadias, Hyperglycemia, Decreased response to growth... ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Ureteral duplication, Glycosuria, Pancreatic hypoplasia, Absent gallbladder, Diabe... OMIM:600001
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Lymphadenitis, Acute i... ORPHA:707
Hydranencephaly
Meningitis, Optic nerve hypoplasia ORPHA:2177
Scorpion Envenomation
Ketonuria, Hyperglycemia, Acute kidney injury, Glycosuria ORPHA:466677
Choreoacanthocytosis
Arthritis, Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decrea... ORPHA:2388
Leptospirosis
Skin rash, Pericarditis, Uveitis, Papilledema, Optic neuritis, Meningitis, Hepatitis ORPHA:509
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Postprandial hyperglycemia, Urinary retention ORPHA:79102
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Meningitis, Malar rash, Myocarditis ORPHA:50918
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Chronic kidney disease, Type II d... ORPHA:64

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 Mgat5b

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 Mgat5b.

No publications found that use IMPC mice or data for Mgat5b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Mgat5btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter