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Gene: H2-D1 MGI:95896

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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 associated to H2-D1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Spondyloarthropathy, Susceptibility To, 1
Rheumatoid factor positive OMIM:106300
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis ORPHA:3287
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Birdshot Chorioretinopathy
Inflammatory abnormality of the eye, Optic disc pallor ORPHA:179
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Arthr... ORPHA:29207
Giant Cell Arteritis
Optic atrophy, Arthritis, Pericarditis ORPHA:397
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis ORPHA:36426
Asthma, Susceptibility To
OMIM:600807

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
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... OMIM:620378
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Segmenta... OMIM:607734
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... OMIM:606483
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... OMIM:214400
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... OMIM:118210
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... OMIM:118200
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per... OMIM:118220
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Peripheral demyelination, Decreased number of peripheral myeli... OMIM:614895
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Onion bulb formation OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Null Syndrome
Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy ORPHA:280234
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Myelitis, Peripheral demyelination ORPHA:71211
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:601098
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph... OMIM:601596
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Peripheral demyelination ORPHA:2932
Subacute Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Axonal loss, Demyelinating motor neuropathy, Increased circulating IgG ... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration/regeneration, Decreased... OMIM:607706
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Peripheral demyelination OMIM:616684
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... ORPHA:101097
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Onion bulb formation OMIM:608323
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Peripheral demyelination, Onion bulb formation OMIM:618279
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis OMIM:610551
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Facial palsy, Myelin outfoldings OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Peripheral hyp... OMIM:605285
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers OMIM:618184
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, CNS demyelination OMIM:249900
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy ORPHA:497764
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Axonal degeneration/regeneration, Peripheral axonal atrophy, Foot osteomyelitis, Decreased number... OMIM:600882
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Peripheral demyelination, Axonal degeneration, Peripheral hypomye... OMIM:604168
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis OMIM:614493
Spastic Paraplegia 55, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation OMIM:615035
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination OMIM:616287
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Peripheral demyelination OMIM:617672
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Krabbe Disease
Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:245200
Trigeminal Neuralgia
Peripheral demyelination, CNS demyelination, Cranial nerve compression ORPHA:221091
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607831
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax... ORPHA:98856
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Peripheral demyelination OMIM:221770
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Peripheral demyelination, Leukodystrophy OMIM:614877
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Increased c... OMIM:618982
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Immunodeficiency 31B
Herpes simplex encephalitis OMIM:613796
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Recurrent aphthous stomatitis, Herpes simplex encephalitis OMIM:614850
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... OMIM:607594
Eosinophilopenia
Autoimmunity OMIM:131430
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy ORPHA:101082
Tangier Disease
Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia OMIM:205400
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Onion bulb formation OMIM:607684
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:601455
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers ORPHA:101111
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Myelin outfoldings OMIM:615284
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination OMIM:609033
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers OMIM:607250
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat... OMIM:604484
Neuropathy, Hereditary Sensory, Type Ie
Osteomyelitis, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... OMIM:308230
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Cholecystitis OMIM:250100
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Leukodystrophy OMIM:169500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Increased cir... ORPHA:277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent sinusiti... OMIM:300853
Zika Virus Disease
Myelitis, Skin rash, Infectious encephalitis, Abnormal optic disc morphology, Acute demyelinating... ORPHA:448237
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Osteomyelitis, Decreased number of large peripheral myelinated nerve f... OMIM:162400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Onion bulb formation, Axonal degeneration, Decreased number of pe... OMIM:302800
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Infectious encepha... OMIM:209920
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... OMIM:615490
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy ORPHA:2821
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination OMIM:272200
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Axonal degeneration/regeneration, Peripheral axonal neuropathy, Demyelinating pe... OMIM:218000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Demyelinating peripheral neuropathy, Dysmye... OMIM:609136
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Fulminant hepatitis, Infec... OMIM:308240
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin... ORPHA:99948
Pemphigus Erythematosus
Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination ORPHA:48431
Autosomal Spastic Paraplegia Type 58
Peripheral demyelination ORPHA:397946
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent... OMIM:300755
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... OMIM:271245
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers ORPHA:90103
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers OMIM:604360
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers OMIM:608703
Giant Axonal Neuropathy 1, Autosomal Recessive
Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ... OMIM:256850
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Infectious encephalitis, P... OMIM:307200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies ORPHA:231154
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site ORPHA:168563
Peho Syndrome
Peripheral dysmyelination, Optic atrophy OMIM:260565
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Spastic Ataxia 5, Autosomal Recessive
Onion bulb formation OMIM:614487
Molybdenum Cofactor Deficiency, Type B
Axonal loss, Peripheral demyelination OMIM:252160
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination OMIM:231670
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Molybdenum Cofactor Deficiency, Type A
Axonal loss, Peripheral demyelination OMIM:252150
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Chronic mucocutaneous candidiasis, Lac... ORPHA:572
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Peripheral demyelination, Stomatitis, Severe demyelination of the white matter ORPHA:79282
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... OMIM:208920
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Hypermyelinated retinal nerve fiber... OMIM:270550
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... ORPHA:254930
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Delayed peripheral myelination ORPHA:464282
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Peripheral demyelination ORPHA:171629
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurofibroma, Leukodystrophy, Osteomyelitis, Peripheral demyelination, Otitis media, Delayed myel... OMIM:619475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Decreased lymphocyte proliferation in response to anti-CD3, Panhypog... OMIM:600802
Nipah Virus Disease
Infectious encephalitis ORPHA:99825
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Demye... ORPHA:298
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Reduced delayed hypersensitivity, Pyoderma, Bronchiec... OMIM:242700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Pancolitis, Decreased T cell activation, Eosinophilic infiltrati... OMIM:618213
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Reduced delayed hypersensitivity, Malar rash, Increased circulating IgA level, Increas... OMIM:603909
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Infectious encephalitis, Erythroderma, Reduced natural killer... ORPHA:540
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atopic dermatitis, Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Moto... ORPHA:466768
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
Mitochondrial Dna-Associated Leigh Syndrome
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy ORPHA:255210
East Syndrome
Peripheral axonal neuropathy, Peripheral hypomyelination ORPHA:199343
Scrub Typhus
Myocarditis, Infectious encephalitis, Skin rash, Anterior uveitis ORPHA:83317
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Infectious encephalitis, Pancreatitis, Myocarditis, Endoc... ORPHA:549
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Optic neuropathy, Onion bulb formation ORPHA:320375
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Lyme Disease
Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased number... ORPHA:101085
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... ORPHA:36234
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis, Keratitis OMIM:256800
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Decreased specific anti-polysaccharide antibo... OMIM:614576
Cerebral Visual Impairment
Optic atrophy, Infectious encephalitis, Optic disc pallor, Increased cup-to-disc ratio, Optic ner... ORPHA:447788
Meningococcal Meningitis
Papilledema, Skin rash, Infectious encephalitis ORPHA:33475
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Atyp... ORPHA:83471
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, CNS demyelination, Skin rash, Infectious encephalitis OMIM:603553
American Trypanosomiasis
Myocarditis, Skin rash, Infectious encephalitis ORPHA:3386
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Cholecystitis, Increased circulating antibody level, Infecti... ORPHA:781
Reynolds Syndrome
Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis ORPHA:779
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, A... OMIM:613179
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Osteomyelitis, Infectious encephalitis... ORPHA:2552
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Hartnup Disease
Skin rash, Infectious encephalitis ORPHA:2116
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers ORPHA:477817
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination OMIM:220111
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis ORPHA:454836
Whipple Disease
Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis ORPHA:3452
Cockayne Syndrome B
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Patchy demyelination o... OMIM:133540
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Cockayne Syndrome A
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Patchy demyelination o... OMIM:216400
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Demyelinating peripheral neuropathy, Decreased number of periphe... ORPHA:99949
Congenital Enterovirus Infection
Skin rash, Infectious encephalitis, Hepatitis, Myocarditis ORPHA:292
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha... ORPHA:1304
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Abnormal cranial nerve morphology, Infectious encephalitis, Pust... ORPHA:73263
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Increased circulating IgG level, Increased circula... ORPHA:319251
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Chronic axonal neuropathy, Peripheral hypomyelination OMIM:612780
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... OMIM:301000
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Minimal change glomerulonephritis, Impaired T cell function, Abnorma... ORPHA:1830
Immunoglobulin A Vasculitis
Optic atrophy, Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis ORPHA:761
Gm1 Gangliosidosis
Optic atrophy, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Chikungunya
Neuritis, Peripheral nerve compression, Skin rash, Infectious encephalitis, Crusting erythematous... ORPHA:324625
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Listeriosis
Pneumonia, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious encephalitis, Pust... ORPHA:533
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Decreased number of peripheral... OMIM:256810
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious encephalitis, S... ORPHA:31204
Japanese Encephalitis
Infectious encephalitis, Increased circulating IgM level, Facial palsy, Increased circulating ant... ORPHA:79139
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Myelin outfoldings ORPHA:99956
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Increased circulating anti... OMIM:181000
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Cysticercosis
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... ORPHA:1560
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Poliomyelitis
Myelitis, Infectious encephalitis ORPHA:2912
Hemophagocytic Lymphohistiocytosis, Familial, 1
Infectious encephalitis OMIM:267700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... ORPHA:391487
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Orotic Aciduria
Impaired T cell function OMIM:258900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Infectious encephalitis ORPHA:847
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Incontinentia Pigmenti
Infectious encephalitis, Keratitis, Skin rash, Uveitis ORPHA:464
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Alexander Disease
Facial palsy, Infectious encephalitis ORPHA:58
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Infectious encephalitis, Pustule, Sinusitis, Facial palsy ORPHA:68
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Choreoacanthocytosis
Peripheral axonal neuropathy, Arthritis, Decreased number of peripheral myelinated nerve fibers ORPHA:2388
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function OMIM:176690
22Q11.2 Deletion Syndrome
Optic atrophy, Impaired T cell function, Seborrheic dermatitis, Arthritis, Acne, Chronic otitis m... ORPHA:567
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Ganglioneuroma, Infectious encephalitis ORPHA:293987
Digeorge Syndrome
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Recurrent sinusitis, Sebor... OMIM:188400
Spondyloarthropathy, Susceptibility To, 1
Rheumatoid factor positive OMIM:106300
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis ORPHA:3287
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Birdshot Chorioretinopathy
Inflammatory abnormality of the eye, Optic disc pallor ORPHA:179
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Arthr... ORPHA:29207
Giant Cell Arteritis
Optic atrophy, Arthritis, Pericarditis ORPHA:397
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis 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

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.

MGI Allele Allele Type Produced
H2-D1b-tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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