banner
Genes Phenotypes Help, News, Blog

Gene: Epha2 MGI:95278

Log in to follow

Gene Summary

Name:
Eph receptor A2
Synonyms:
Sek-2,  Sek2,  Eck,  Myk2

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 lymph node morphology Epha2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Epha2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

51 Images

View images
Histopathology

Images

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

17 Images

View images

Human diseases caused by Epha2 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 Epha2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600

The table below shows human diseases predicted to be associated to Epha2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aniridia 3
Cataract OMIM:617142
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Trichomegaly
Cataract OMIM:190330
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Cataract 7
Developmental cataract OMIM:115660
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Galactosemia Iv
Cataract OMIM:618881
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 17, Multiple Types
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea OMIM:611544
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 2, Multiple Types
Developmental cataract, Microcornea, Aculeiform cataract, Nuclear cataract, Nuclear pulverulent c... OMIM:604307
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Neurofibromatosis, Type Ii
Astrocytoma, Occasional neurofibromas, Bilateral vestibular schwannoma, Retinal hamartoma, Ependy... OMIM:101000
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Proximal Myotonic Myopathy
Cataract ORPHA:606
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Galactosemia Ii
Cataract OMIM:230200
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract 49
Posterior cortical cataract OMIM:619593
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly OMIM:619126
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Kerion Celsi
Lymphadenopathy ORPHA:499
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Uveal Melanoma
Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation, Cho... ORPHA:39044
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Full Nf2-Related Schwannomatosis
Astrocytoma, Intracranial meningioma, Bilateral vestibular schwannoma, Spinal meningioma, Retinal... ORPHA:637
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Nathalie Syndrome
Cataract OMIM:255990
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract OMIM:616732
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Cat... ORPHA:523
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Mast Cell Sarcoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:66661
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cahmr Syndrome
Lamellar cataract OMIM:211770
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Cataract 24
Anterior polar cataract OMIM:601202
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Anterior subcapsular cataract, Posterior subcapsular cataract, Anterior cortic... ORPHA:67036
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Retinitis Pigmentosa 40
Cataract OMIM:613801
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Pellagra-Like Syndrome
Cataract OMIM:260650
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Congenital Microcoria
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... ORPHA:566
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Knobloch Syndrome 1
Iris transillumination defect, Developmental cataract, Lens subluxation, Band keratopathy, Cortic... OMIM:267750
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract 16, Multiple Types
Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract ORPHA:280914
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Cataract 48
Cataract OMIM:618415
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract OMIM:617547
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Congenital Varicella Syndrome
Cataract ORPHA:291
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract OMIM:222765
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:240500
Galactokinase Deficiency
Cataract, Nuclear cataract ORPHA:79237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:613101
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splen... OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:300853
Vitreoretinochoroidopathy
Pulverulent cataract, Developmental cataract, Microcornea OMIM:193220
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Knobloch Syndrome 2
Anterior cortical cataract OMIM:618458
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Mediast... OMIM:615559
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
3-Methylglutaconic Aciduria, Type Viib
Cataract, Zonular cataract OMIM:616271
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... OMIM:602450
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Rothmund-Thomson Syndrome, Type 2
Zonular cataract, Squamous cell carcinoma, Basal cell carcinoma, Microcornea, Cataract, Osteosarcoma OMIM:268400
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract ORPHA:2848
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Tularemia
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Nance-Horan Syndrome
Posterior Y-sutural cataract, Developmental cataract, Microcornea OMIM:302350
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Mevalonic Aciduria
Cataract, Nuclear cataract OMIM:610377
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system ORPHA:54251
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Immunodeficiency 7
Lymphadenopathy, Splenomegaly OMIM:615387
Heme Oxygenase 1 Deficiency
Asplenia, Lymphadenopathy, Cervical lymphadenopathy OMIM:614034
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Punctate cataract, Capillary hemangioma OMIM:607812
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Lowe Oculocerebrorenal Syndrome
Corneal scarring, Dense posterior cortical cataract, Developmental cataract OMIM:309000
Lymphoproliferative Syndrome 2
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:615122
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Nephroblastoma
Lymphadenopathy ORPHA:654
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Cataract, Iris coloboma, Buphthalmos OMIM:212550
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract OMIM:608885
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly ORPHA:911
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618935
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:3226
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Griscelli Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:381
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Primary Myelofibrosis
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:824
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Capillary hemangioma ORPHA:50814
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy ORPHA:97289
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly OMIM:619802
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity OMIM:301078
Castleman Disease
Lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Mediastinal lymphadenopathy ORPHA:160
Omenn Syndrome
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Persistent Hyperplastic Primary Vitreous
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... ORPHA:91495
Felty Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:47612
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Legionnaires Disease
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Enlarged tonsils, Hepatosplenomegaly OMIM:606367
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Mixed Connective Tissue Disease
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Lymphadenopathy, Generalized lymphadenopathy OMIM:614700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:260920
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:603553
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Generalized lymphadenopathy, Lymphadenopathy, Cervical lymphadeno... ORPHA:50918
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Cervical lymphadenopathy OMIM:617718
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:602782
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Poems Syndrome
Lymphadenopathy ORPHA:2905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Polysplenia, Lymphadenopathy, Accessory spleen, Splenomegaly OMIM:619418
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Tangier Disease
Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatosplenomegaly ORPHA:31150
Cherubism
Submandibular lymph node enlargement OMIM:118400
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
H Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Q Fever
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:781
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatosplenomegaly OMIM:615688
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Splenomegaly, Lymphangioma ORPHA:2136
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Autoimmune Lymphoproliferative Syndrome
Hypersplenism, Lymphadenopathy, Bone marrow hypocellularity, Chronic noninfectious lymphadenopath... ORPHA:3261
Lymphangioleiomyomatosis
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system ORPHA:538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
Chédiak-Higashi Syndrome
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:167
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Cervical lymp... ORPHA:2442
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Coccidioidomycosis
Abnormality of the spleen, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:228123
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Brucellosis
Hypersplenism, Lymphadenopathy, Splenomegaly ORPHA:1304
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:619381
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Splenomegaly ORPHA:99827
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889
African Trypanosomiasis
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:3385
Leptospirosis
Lymphadenopathy ORPHA:509

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term developmental dysplasia Epha2em1(IMPC)Mbp HOM Early adult

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 Epha2.

No publications found that use IMPC mice or data for Epha2.

Order Mouse and ES Cells

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

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

MGI Allele Allele Type Produced
Epha2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Epha2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Epha2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Epha2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter