Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
histocompatibility 2, D region locus 1
Synonyms:
H-2D

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 H2-D1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to H2-D1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, Peripheral demyelination, CNS demyelination, Optic neuritis OMIM:165200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... OMIM:606482
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... 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, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... OMIM:614895
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:180800
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... ORPHA:280234
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... OMIM:118220
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Symmetric periphe... ORPHA:206594
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... OMIM:605285
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Decreased nerve con... OMIM:611228
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Myelitis, Optic neuritis ORPHA:71211
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:145900
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal at... OMIM:600882
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... OMIM:609311
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:604563
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination OMIM:249900
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity OMIM:610100
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:607706
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4K
Peripheral demyelination, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Decreased number of small ... ORPHA:101097
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Segmental peripheral demy... OMIM:601455
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis OMIM:616098
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Facial palsy OMIM:601382
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination OMIM:258650
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis OMIM:610551
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Decreased nerve conduction velocity OMIM:252320
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers ORPHA:497764
Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:245200
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral demyelinati... OMIM:604168
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation OMIM:614493
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Peripheral demyelination, Axonal loss OMIM:617672
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Peripheral demyelination OMIM:618237
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Immunodeficiency 66
Recurrent skin infections, Defective T cell proliferation, Pustule OMIM:618847
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased c... OMIM:607594
Galloway-Mowat Syndrome 5
Peripheral demyelination OMIM:617731
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Peripheral demyelination, Axonal loss OMIM:221770
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... OMIM:618982
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythematosus, Autoimmune hemolytic anemia ORPHA:444463
Immunodeficiency 31B
Herpes simplex encephalitis OMIM:613796
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decreased circulating ... OMIM:240500
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Eosinophilopenia
Autoimmunity OMIM:131430
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Tangier Disease
Facial diplegia, Peripheral demyelination, Peripheral axonal neuropathy OMIM:205400
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:162400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination OMIM:220111
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Trigeminal Neuralgia
Peripheral demyelination, Cranial nerve compression, CNS demyelination ORPHA:221091
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Peripheral demyelination, Optic atrophy OMIM:609033
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Decreased nerve conduction velocity, Myelin outfoldings, Peripheral hyp... OMIM:609136
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis OMIM:614116
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... OMIM:604484
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus ORPHA:411593
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Cholecystitis OMIM:250100
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Immunodeficiency 7
Autoimmunity OMIM:615387
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Systemic lupus erythematosus, Antinuclear antibody positivity, Rheumatoid arthritis OMIM:178610
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, Decreased number... ORPHA:90103
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... ORPHA:277
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... OMIM:608720
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... OMIM:218000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... OMIM:617241
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Cutaneous anergy, Chronic mucocutaneous... OMIM:209920
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Charcot-Marie-Tooth Disease Type 4A
Motor conduction block, Decreased number of large peripheral myelinated nerve fibers, Decreased n... ORPHA:99948
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Recurrent otitis media, Decrease... OMIM:300853
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Facial palsy, Se... OMIM:256850
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circula... OMIM:308230
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, Decreased motor nerve conduction velocity OMIM:610532
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination OMIM:272200
Pemphigus Erythematosus
Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... ORPHA:79480
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of peripheral my... ORPHA:320406
Zika Virus Disease
Infectious encephalitis, Abnormality of the optic disc, Arthritis, Increased circulating IgM leve... ORPHA:448237
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:307200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerves, Abnormality of peripheral nerve conduction, Abnormal peripheral... ORPHA:168563
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Decreased number of large periph... OMIM:270550
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis leading to amputation due t... OMIM:256810
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Molybdenum Cofactor Deficiency, Complementation Group B
Peripheral demyelination, Axonal loss OMIM:252160
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies ORPHA:231154
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased number of peripheral myelinated nerve fibe... OMIM:201300
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Lack of T cell function, Rhinitis, Decreased circulating antibody level, Decreased lym... ORPHA:572
Pfapa Syndrome
Infectious encephalitis, Arthritis ORPHA:42642
Molybdenum Cofactor Deficiency, Complementation Group A
Peripheral demyelination, Axonal loss OMIM:252150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter, Stomatitis ORPHA:79282
Peho Syndrome
Peripheral dysmyelination, Optic atrophy OMIM:260565
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of larg... ORPHA:298
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... OMIM:208920
Subcorneal Pustular Dermatosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:48377
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... OMIM:618131
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Pustule, Lack of T cell function, Decreased circulating IgG level, Partial IgA deficiency, Decrea... ORPHA:35078
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:601859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent otitis media, Decreased lymphocyte proliferation in respon... OMIM:600802
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Pyoderma, Bronchiectasis, Reduced delayed hypersensitivity, Recurrent pneu... OMIM:242700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atopic dermatitis, Abnormal peripheral myelination, Abnormal myelination, Decreased distal sensor... ORPHA:466768
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neurop... ORPHA:254930
Aspergillosis
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... ORPHA:1163
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Nipah Virus Disease
Infectious encephalitis ORPHA:99825
Familial Hemophagocytic Lymphohistiocytosis
Infectious encephalitis, Erythroderma, Reduced natural killer cell activity, Decreased circulatin... ORPHA:540
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Increased circulating IgA level, Nephritis, Increased circulating... OMIM:603909
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Decreased sensory nerve conduction velocity, Optic neuropathy, Optic atrophy ORPHA:320375
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Peripheral demyelination, Leukodystrophy, Osteomyelitis, Otitis media, Delayed myelination, Neuro... OMIM:619475
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Optic nerve hypoplasia, Decreased n... ORPHA:101085
Lyme Disease
Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
East Syndrome
Peripheral hypomyelination, Peripheral axonal neuropathy ORPHA:199343
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Segmental peripheral demyelination/remyelination, Demyelinating peripheral neuropathy ORPHA:255210
Neuromuscular Oculoauditory Syndrome
Peripheral hypomyelination, Sensory axonal neuropathy, Decreased nerve conduction velocity, Decre... OMIM:618733
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Decreased circulating antibody level, Acne inversa, Recurrent skin i... OMIM:233600
Legionnaires Disease
Myocarditis, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis, Bone marrow hypocell... ORPHA:549
Scrub Typhus
Myocarditis, Infectious encephalitis, Skin rash, Anterior uveitis ORPHA:83317
Typhoid
Infectious encephalitis, Skin rash ORPHA:99745
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciitis, Hep... ORPHA:36234
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... OMIM:618213
Cerebral Visual Impairment
Optic atrophy, Optic disc pallor, Infectious encephalitis, Optic nerve hypoplasia, Increased cup-... ORPHA:447788
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Impaired T cell function, Decreased lymphocyte proliferation in response to... OMIM:613179
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Decreased specific anti-polysaccharide antibo... OMIM:614576
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis OMIM:256800
Meningococcal Meningitis
Papilledema, Infectious encephalitis, Skin rash ORPHA:33475
American Trypanosomiasis
Myocarditis, Infectious encephalitis, Skin rash ORPHA:3386
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Pneumonia, Chronic otitis media, Chronic oral candidiasis, Decr... ORPHA:83471
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Reynolds Syndrome
Arthritis, Infectious encephalitis, Skin rash, Keratoconjunctivitis sicca ORPHA:779
Q Fever
Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hepatitis, Osteomyel... ORPHA:781
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Infectious encephalitis, CNS demyelination, Skin rash OMIM:603553
Microsporidiosis
Sinusitis, Cholangitis, Myocarditis, Infectious encephalitis, Pneumonia, Endocarditis, Lymphadeni... ORPHA:2552
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity ORPHA:477817
Cockayne Syndrome A
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Decreased nerve conduc... OMIM:216400
Cockayne Syndrome B
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Decreased nerve conduc... OMIM:133540
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Hartnup Disease
Infectious encephalitis, Skin rash ORPHA:2116
Whipple Disease
Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Uveitis ORPHA:3452
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Optic atrophy, Facial paralysis, Decreased number of p... ORPHA:99949
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Brucellosis
Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hip osteoarthritis, ... ORPHA:1304
Congenital Enterovirus Infection
Myocarditis, Hepatitis, Infectious encephalitis, Skin rash ORPHA:292
Avian Influenza
Infectious encephalitis, Pneumonia, Hepatitis, Myelitis, Conjunctivitis ORPHA:454836
Gm1 Gangliosidosis
Optic atrophy, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Impaired T cell function, Bone marrow hypocellularity, Pancrea... ORPHA:1830
Immunoglobulin A Vasculitis
Optic atrophy, Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis ORPHA:761
Zygomycosis
Sinusitis, Myocarditis, Abnormal cranial nerve morphology, Pericarditis, Infectious encephalitis,... ORPHA:73263
Rift Valley Fever
Infectious encephalitis, Hepatitis, Increased circulating IgG level, Uveitis, Increased circulati... ORPHA:319251
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Chikungunya
Infectious encephalitis, Synovitis, Peripheral nerve compression, Arthritis, Crusting erythematou... ORPHA:324625
Listeriosis
Myocarditis, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis, Peritonitis... ORPHA:533
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings ORPHA:99956
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... OMIM:301000
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Japanese Encephalitis
Decreased motor nerve conduction velocity, Infectious encephalitis, Facial palsy, Increased circu... ORPHA:79139
Poliomyelitis
Infectious encephalitis, Abnormal motor nerve conduction velocity, Myelitis ORPHA:2912
Nocardiosis
Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadenitis, Peritonitis, Osteo... ORPHA:31204
Behçet Disease
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... ORPHA:117
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Inflammation of the large intestine, Bronchiectasis, Arthritis, Increased circu... OMIM:181000
Cysticercosis
Increased circulating antibody level, Infectious encephalitis, Iridocyclitis ORPHA:1560
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Infectious encephalitis ORPHA:847
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Hepatitis,... ORPHA:391487
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Hemophagocytic Lymphohistiocytosis, Familial, 1
Infectious encephalitis OMIM:267700
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Infectious encephalitis, Pustule, Pneumonia, Facial palsy ORPHA:68
Orotic Aciduria
Impaired T cell function OMIM:258900
Incontinentia Pigmenti
Uveitis, Infectious encephalitis, Skin rash, Keratitis ORPHA:464
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Alexander Disease
Infectious encephalitis, Facial palsy ORPHA:58
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function OMIM:176690
Choreoacanthocytosis
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Arthritis, ... ORPHA:2388
22Q11.2 Deletion Syndrome
Optic atrophy, Impaired T cell function, Chronic otitis media, Seborrheic dermatitis, Acne, Arthr... ORPHA:567
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Infectious encephalitis, Ganglioneuroma ORPHA:293987
Digeorge Syndrome
Seborrheic dermatitis, Acne, Impaired T cell function OMIM:188400
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis ORPHA:3287
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Birdshot Chorioretinopathy
Optic disc pallor, Inflammatory abnormality of the eye ORPHA:179
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent a... ORPHA:29207
Giant Cell Arteritis
Optic atrophy, Pericarditis, Arthritis ORPHA:397
Stevens-Johnson Syndrome
Pancreatitis, Conjunctivitis ORPHA:36426
Asthma, Susceptibility To
OMIM:600807

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 H2-D1

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 H2-D1.

No publications found that use IMPC mice or data for H2-D1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
H2-D1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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