Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

51 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
Developmental cataract, Posterior polar 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 18
Cataract OMIM:610019
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
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
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
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
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Aniridia 3
Cataract OMIM:617142
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Cataract 7
Developmental cataract OMIM:115660
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Cataract 21, Multiple Types
Microcornea, Iris coloboma, Cortical pulverulent cataract, Cerulean cataract OMIM:610202
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Galactosemia Iv
Cataract OMIM:618881
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Aniridia 2
Cataract, Aniridia OMIM:617141
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Neurofibromatosis, Type Ii
Occasional neurofibromas, Optic nerve sheath meningioma, Peripheral Schwannoma, Cortical cataract... OMIM:101000
Nathalie Syndrome
Cataract ORPHA:2663
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 47
Microcornea, Cataract OMIM:612018
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 75
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Cataract 42
Developmental cataract OMIM:115900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Proximal Myotonic Myopathy
Cataract ORPHA:606
Kerion Celsi
Lymphadenopathy ORPHA:499
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Galactosemia Ii
Cataract OMIM:230200
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract 49
Posterior cortical cataract OMIM:619593
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Dermoids Of Cornea
Corneal opacity OMIM:304730
X-Linked Retinoschisis
Cataract ORPHA:792
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 2, Multiple Types
Microcornea, Developmental cataract, Nuclear cataract OMIM:604307
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Subepithelial corneal opacities, Corneal dystrophy OMIM:221800
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Uveal Melanoma
Zonular cataract, Choroidal melanoma, Iris melanoma, Inferior lens subluxation, Mydriasis, Ciliar... ORPHA:39044
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Retinitis Pigmentosa 86
Cortical cataract OMIM:618613
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Neurofibromatosis Type 2
Spinal meningioma, Spinal cord tumor, Peripheral Schwannoma, Cortical cataract, Meningioma, Bilat... ORPHA:637
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Cerulean cataract OMIM:616732
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Nathalie Syndrome
Cataract OMIM:255990
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Esophageal neoplasm, Cutaneous leiomyoma, Cataract, Papillary rena... ORPHA:523
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Hypoplasia of the iris OMIM:223540
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract OMIM:617547
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Cataract 11, Multiple Types
Cataract OMIM:610623
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Retinitis Pigmentosa 84
Cataract OMIM:618220
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Cahmr Syndrome
Lamellar cataract OMIM:211770
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Cataract, Cerulean cataract, Posterior... ORPHA:67036
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Cataract 24
Anterior polar cataract OMIM:601202
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Retinitis Pigmentosa 40
Cataract OMIM:613801
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Pellagra-Like Syndrome
Cataract OMIM:260650
Congenital Microcoria
Developmental cataract, Astigmatism, Iris transillumination defect, Corneal stromal edema, Hypopl... ORPHA:566
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Knobloch Syndrome 1
Band keratopathy, Developmental cataract, Persistent pupillary membrane, Lens subluxation, Cortic... OMIM:267750
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:98293
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Retinitis Pigmentosa 56
Nuclear cataract, Posterior subcapsular cataract OMIM:613581
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Idiopathic Anterior Uveitis
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Nuclear cataract ORPHA:280914
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen ORPHA:543
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Congenital Varicella Syndrome
Cataract ORPHA:291
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Retinitis Pigmentosa 4
Cataract OMIM:613731
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Immunodeficiency 64
Hepatosplenomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Galactokinase Deficiency
Cataract, Nuclear cataract ORPHA:79237
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of the lymph nodes, Hepatosplenomegaly, Splenomegaly OMIM:612840
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Lymphadeno... OMIM:615559
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Retinitis Pigmentosa 9
Cataract OMIM:180104
Rothmund-Thomson Syndrome, Type 2
Zonular cataract, Squamous cell carcinoma, Microcornea, Cataract, Osteosarcoma, Basal cell carcinoma OMIM:268400
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Vitreoretinochoroidopathy
Microcornea, Pulverulent cataract OMIM:193220
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymph nodes, Abnormality of the lymphatic system ORPHA:54251
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Achromatopsia 3
Cataract OMIM:262300
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Tularemia
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Cervica... ORPHA:3392
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Cervical lymphadenopathy, Asplenia OMIM:614034
Nance-Horan Syndrome
Microcornea, Developmental cataract, Posterior Y-sutural cataract OMIM:302350
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Nephroblastoma
Lymphadenopathy ORPHA:654
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
Mevalonic Aciduria
Cataract, Nuclear cataract OMIM:610377
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615122
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Lowe Oculocerebrorenal Syndrome
Developmental cataract, Dense posterior cortical cataract OMIM:309000
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Craniolenticulosutural Dysplasia
Capillary hemangioma, Punctate cataract, Posterior Y-sutural cataract OMIM:607812
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormality of the lymph nodes, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618935
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:3226
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract OMIM:601701
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:603909
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Griscelli Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:381
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Primary Myelofibrosis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:824
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Craniolenticulosutural Dysplasia
Capillary hemangioma, Posterior Y-sutural cataract ORPHA:50814
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Felty Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:47612
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils OMIM:308230
Adult-Onset Still Disease
Splenomegaly, Bone marrow hypocellularity, Generalized lymphadenopathy ORPHA:829
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Legionnaires Disease
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Enlarged tonsils, Lymphadenopathy OMIM:606367
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:809
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233710
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Lymphadenitis, Generalized lymphadenopathy OMIM:618986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233690
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Lymphadenopathy, Generalized lymphadenopathy OMIM:614700
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Lymphatic Filariasis
Lymphangiectasis, Abnormality of the lymphatic system, Lymphadenitis, Lymphadenopathy ORPHA:2035
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Kikuchi-Fujimoto Disease
Splenomegaly, Cervical lymphadenopathy, Generalized lymphadenopathy, Lymphadenopathy, Abnormality... ORPHA:50918
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Cherubism
Submandibular lymph node enlargement OMIM:118400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Cervical lymphadenopathy OMIM:602782
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:306400
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Orange discolored tonsils ORPHA:31150
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Q Fever
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:781
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Polysplenia, Splenomegaly, Lymphadenopathy, Accessory spleen OMIM:619418
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity OMIM:615688
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Lymphadenopathy, Pulmonary lymphangiomyomatosis ORPHA:538
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Splenomegaly ORPHA:2136
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Bone marrow hypocellularity, Splenomegaly, Cervical lymphadenopathy, Enlarged... ORPHA:2442
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Splenomegaly, Chronic noninfectious lymphadenopathy, Lymphadenopathy... ORPHA:3261
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:167
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Brucellosis
Hypersplenism, Splenomegaly, Lymphadenopathy ORPHA:1304
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Sarcoidosis
Abnormality of the lymph nodes, Lymphadenopathy ORPHA:797
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Lymphadenopathy ORPHA:99827
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:619381
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormality of the lymph nodes, Neoplasm of the thymus ORPHA:99889
African Trypanosomiasis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy 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.

There is no histopathology data for Epha2

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.

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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

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