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Gene: Nup210 MGI:1859555

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Gene Summary

Name:
nucleoporin 210
Synonyms:
gp190,  Pom210,  gp210

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal liver morphology Nup210em1(IMPC)Mbp HOM Early adult 0.00
small liver Nup210em1(IMPC)Mbp HOM Early adult 0.00
cataract Nup210em1(IMPC)Mbp HOM   Early adult 8.14×10-08
abnormal vitreous body morphology Nup210em1(IMPC)Mbp HOM   Early adult 4.50×10-08

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Nup210 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 Nup210 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... OMIM:615513
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Cataract 42
Cataract, Developmental cataract OMIM:115900
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Trichomegaly
Cataract OMIM:190330
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Nathalie Syndrome
Cataract ORPHA:2663
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... ORPHA:277
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 102
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... OMIM:301082
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly OMIM:618982
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... OMIM:143200
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy OMIM:204000
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Cataract 47
Microcornea, Cataract OMIM:612018
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy OMIM:613731
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract, Abnormality of retinal pigmentation ORPHA:3156
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... OMIM:613011
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma ORPHA:1473
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Cone-Rod Dystrophy 16
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:614500
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Abnormality of the liver, Cataract OMIM:614307
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Hepatic steatosis, Cirrhosis OMIM:606069
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Optic disc pallor OMIM:613730
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Elevated circulating alanine aminotransferase concentration, Hepatic stea... OMIM:618805
Proximal Myotonic Myopathy
Cataract ORPHA:606
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Stickler Syndrome, Type V
Retinal detachment, Cataract OMIM:614284
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Astigmatism OMIM:612285
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Genetic Hyperferritinemia Without Iron Overload
Cataract, Elevated hepatic iron concentration ORPHA:254704
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Galactosemia I
Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration, Elevated c... OMIM:230400
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Pigmentary retinopathy, Cholestati... ORPHA:79095
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Roifman Syndrome
Decreased circulating antibody level, Decreased T cell activation, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia OMIM:615758
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Aplas... ORPHA:83471
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... ORPHA:1830
Ataxia-Telangiectasia
Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Decreased proportion o... OMIM:208900
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Cadds
Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis ORPHA:369942
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia OMIM:300755
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic hepatitis, Keratoconjunctivitis, Cirrhos... OMIM:269200
Vici Syndrome
Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Mednik Syndrome
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis OMIM:609313
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... OMIM:619381
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Acute lymphoblasti... ORPHA:125
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract OMIM:620185
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology OMIM:181000
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... OMIM:300166
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Splenomegaly, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170

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 Nup210

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 Nup210.

No publications found that use IMPC mice or data for Nup210.

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
Nup210tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nup210tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nup210em1(IMPC)Mbp Exon Deletion Mice, Tissue

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