Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ELL associated factor 2
Synonyms:
Festa,  Traits,  U19,  FESTA-S,  FESTA-L

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Eaf2 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 Eaf2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Tumor Predisposition Syndrome
Lung adenocarcinoma, Cutaneous melanoma, Meningioma, Uveal melanoma, Renal cell carcinoma OMIM:614327
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Prostate Cancer
Prostate cancer OMIM:176807
Prostate Cancer, Hereditary, X-Linked 1
Prostate cancer OMIM:300147
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Prostate Cancer, Hereditary, 1
Neoplasm, Prostate cancer OMIM:601518
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Prostate Cancer/Brain Cancer Susceptibility
Neoplasm of the central nervous system, Prostate cancer OMIM:603688
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Epididymitis,... OMIM:307200
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Melioidosis
Pneumonia, Parotitis, Cutaneous abscess, Osteoarthritis, Prostatitis, Hepatitis, Abnormal parotid... ORPHA:31202
Familial Multinodular Goiter
Colorectal polyposis, Medulloepithelioma, Sertoli cell neoplasm, Testicular seminoma, Ovarian neo... ORPHA:276399
Hereditary Breast And Ovarian Cancer Syndrome
Primary peritoneal carcinoma, Melanoma, Breast carcinoma, Ovarian neoplasm, Prostate cancer, Abno... ORPHA:145
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Asbestos Intoxication
Myocardial fibrosis, Pleural thickening, Lung adenocarcinoma, Cor pulmonale, Interlobular septal ... ORPHA:2302
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Ovarian Cancer
Breast carcinoma, Dysgerminoma, Ovarian papillary adenocarcinoma OMIM:167000
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Abnormality of the endometrium, Inf... ORPHA:2552
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Recurrent otitis media, Infectious encephalitis, Prostatitis, Bronchiectasis... OMIM:300755
Ethanolaminosis
Cardiomegaly OMIM:227150
Serrated Polyposis Syndrome
Bladder carcinoma, Colorectal polyposis, Schwannoma, Melanoma, Breast carcinoma, Biliary tract ne... ORPHA:157798
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomato... ORPHA:79665
Legius Syndrome
Multiple lipomas, Male urethral meatus stenosis, Ovarian neoplasm, Desmoid tumors, Pulmonic steno... ORPHA:137605
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Igg4-Related Ophthalmic Disease
Sinusitis, Non-Hodgkin lymphoma, Abnormality of the anterior pituitary, Cholangitis, Orchitis, Co... ORPHA:449563
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Enlarged lacrimal glands, Abnormal pancreas morp... ORPHA:449432
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Cryptococcosis
Pneumonia, Peritonitis, Prostatitis, Neoplasm, Lymphoid leukemia, Osteomyelitis ORPHA:1546
Igg4-Related Kidney Disease
Urinary bladder inflammation, Sclerosing cholangitis, Lymphadenitis, Abnormality of the anterior ... ORPHA:449395
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Alkaptonuria
Osteoarthritis, Prostatitis, Arthritis ORPHA:56
Granulomatosis With Polyangiitis
Sinusitis, Inflammatory abnormality of the eye, Increased inflammatory response, Prostatitis, Chr... ORPHA:900
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocorticotropic hormone deficiency, Adrenocortical carcinoma ORPHA:1501
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Opsoclonus-Myoclonus Syndrome
Neuroblastoma, Melanoma, Breast carcinoma, Neoplasm, Neoplasm of the lung, Small cell lung carcin... ORPHA:1183
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal, Squamous cell carcinoma of the skin ORPHA:85112
46,Xy Sex Reversal 10
Micropenis, Gonadoblastoma, Sex reversal, Ambiguous genitalia, Dysgerminoma, Decreased testicular... OMIM:616425
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Multiple myeloma, Brain neoplasm, Squamous cell carcinoma of the skin,... ORPHA:79140
Cancer-Associated Retinopathy
Colon cancer, Thymoma, Neoplasm of the breast, Testicular neoplasm, Uterine neoplasm, Small cell ... ORPHA:71505
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Cardiomegaly, Azoospermia, Splenomegaly, Pleural effusion, Hepatom... OMIM:235200
Dermatomyositis
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Lung adenocarcinoma, Myocarditis, Neop... ORPHA:221
Turcot Syndrome With Polyposis
Hepatoblastoma, Colon cancer, Lymphoma, Pilomatrixoma, Adenomatous colonic polyposis, Glioma, Pap... ORPHA:99818
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Medulloblastoma, Pleuropulmonary blastoma OMIM:601200
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Bacterial endocarditis, Jaundice, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated ci... OMIM:615723
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Ovarian thecoma, Nephroblastoma, Pleuropulmonary blastoma, Goiter, Mu... OMIM:180295
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm OMIM:614337
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Mulibrey Nanism
Pericardial constriction, Hepatomegaly, Nephroblastoma, Recurrent lower respiratory tract infecti... OMIM:253250
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated hepatic transaminase, Cardiomegaly, Left ventricular hyper... OMIM:617713
Pilomatrixoma
Pilomatrixoma OMIM:132600
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Cardiomegaly, Portal hypertension, Cirrhosis, Cholangiocarcinoma, ... ORPHA:465508
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Osteoma, Neoplasm of the ga... ORPHA:733
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ovotestis, Carcinoma, Laryngeal carcinoma, External genital hypoplasia, Ambiguous genitalia, Hypo... OMIM:610644
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreas... OMIM:212140
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Bive... ORPHA:860
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Br... OMIM:601005
Congenital Toxoplasmosis
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly, Jaundice ORPHA:858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Carcinoma, Parathyroid adenoma, Pancreatic endocrine tumor, Elevated circul... OMIM:610755
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Enlarged kidney, Adrenocortical carcinoma, Cryptorchidism, Pancreatic hyperplasia... OMIM:130650
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Xeroderma Pigmentosum, Complementation Group B
Squamous cell carcinoma of the skin, Cutaneous melanoma, Neoplasm, Basal cell carcinoma, Hypogona... OMIM:610651
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Macrovesicular... OMIM:600649
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasia of the pleura, Abnormal prostate morphology, Soft tissue neoplasm, Uterine neoplasm, Ne... ORPHA:2126
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly OMIM:619064
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegal... OMIM:616897
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Malakoplakia
Urinary bladder inflammation, Prostate neoplasm, Orchitis, Neoplasm of the rectum, Neoplasm of th... ORPHA:556
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Splenomegaly, Hepatomegaly, Asymmetric septal hyper... OMIM:252920
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Pulmonary carcinoid tumor, Squamous cell carcinoma of the skin, Mitral valve calcifica... ORPHA:363618
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HRCT, Hepatomegal... ORPHA:99931
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia ORPHA:3137
Sotos Syndrome
Neuroblastoma, Pulmonary bleb, Cryptorchidism, Atrial septal defect, Cholesteatoma, Neoplasm, Hem... ORPHA:821
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:278720
Mogs-Cdg
Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, External ge... ORPHA:79330
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Pancr... ORPHA:99889
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:255120
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Cryptorchidism, Atrial septal defect, Spinal cord tumor, Neoplasm, Meningioma, Pulmoni... ORPHA:353281
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase, Cardiom... ORPHA:42
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Pulmonary hy... OMIM:617022
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Tetrasomy 9P
Absent gallbladder, Patent foramen ovale, Cryptorchidism, Micropenis, Abnormal mitral valve morph... ORPHA:3310
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular... OMIM:201475
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Cardiomegaly, Neuroblastoma, Pseudohypoparathyroidism, Rhabdomyosarcoma, Adrenoco... ORPHA:116
Lymphatic Filariasis
Lymphadenitis, Orchitis, Knee osteoarthritis, Glomerulonephritis, Vaginal hydrocele, Urethral obs... ORPHA:2035
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Cardiomegaly OMIM:603903
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Azoospermia, Micropenis, Pancreatic hypoplasia, Atrial septal defect, Splenom... OMIM:602782
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Squamous cell carcinoma of the skin, Myelodysplasia, Pulmonary fibrosis... OMIM:127550
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Uveitis, Orchitis, Arthritis, Peritonitis, Pericarditis, Fasciitis, Conjunc... ORPHA:32960
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:614921
Truncus Arteriosus
Truncus arteriosus, Cardiomegaly, Tetralogy of Fallot, Abnormal heart valve morphology, Right ven... ORPHA:3384
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Jaundice, Cirrhosis, Cardiomegaly, Left ventricular hyper... ORPHA:57777
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Hepatomegaly, Labial hypertrophy, Precocious puberty, Ventricular septal defect, ... ORPHA:96191
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Recurrent pneumonia, Displacement of the papillary muscle... ORPHA:1329
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Patent foramen ovale, Cryptorchidism, Atrial septal defect, Pulmonic stenosis, Meningi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Patent foramen ovale, Cryptorchidism, Atrial septal defect, Pulmonic stenosis, Meningi... ORPHA:353277
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Cardiomegaly, Hepatomegaly OMIM:618143
Bohring-Opitz Syndrome
Cholelithiasis, Medulloblastoma, Recurrent respiratory infections, Nephroblastoma, Annular pancre... ORPHA:97297
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Elevated circulating alanine aminotransferase concentrat... OMIM:608836
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Pericarditis, Arthritis OMIM:249100
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Cavernous hemangiom... OMIM:252500
Oculocutaneous Albinism
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:55
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Pulmonary edema OMIM:261740
Brucellosis
Pneumonia, Hip osteoarthritis, Orchitis, Knee osteoarthritis, Infectious encephalitis, Glomerulon... ORPHA:1304
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:79432
Familial Mediterranean Fever
Erysipelas, Orchitis, Arthritis, Peritonitis, Osteoarthritis, Pancreatitis, Pericarditis, Skin rash ORPHA:342
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Cardiomegaly, Pulmonary hypoplasia OMIM:608013
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Immunoglobulin A Vasculitis
Orchitis, Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash ORPHA:761
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Fucosidosis
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy, Prolonged neonatal jaundice, Elevate... ORPHA:51
Hermansky-Pudlak Syndrome
Cardiomyopathy, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis ORPHA:79430
Congenital Tracheomalacia
Emphysema, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia, Atrial s... ORPHA:95430
Fucosidosis
Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Glycogen Storage Disease Ii
Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyopathy, Hepatom... ORPHA:308552
Absence Of The Pulmonary Artery
Recurrent pneumonia, Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal ca... ORPHA:980
Behçet Disease
Optic neuritis, Myositis, Orchitis, Arthritis, Infectious encephalitis, Increased inflammatory re... ORPHA:117
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, Cryptorchidism, Atrial septal ... OMIM:300967
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Increased hepatic glycogen content, Cardiomyopathy OMIM:619259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatic steatosis, Hepatic failure, Hepatomegaly, Cardiomyopathy,... ORPHA:228308
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Postinfectious Vasculitis
Viral hepatitis, Pneumonia, Gastrointestinal inflammation, Orchitis, Bacterial endocarditis, Incr... ORPHA:48435
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Hepatocellular necrosis, Recu... OMIM:618278
Sandhoff Disease
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Histiocytoid Cardiomyopathy
Polycystic ovaries, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Pulmonary edema ORPHA:137675
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Splenomegaly, Hepatomegaly, Res... ORPHA:581
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Pleural effusion, Atrial septal dilatation, Abnormality o... ORPHA:1677
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin ORPHA:79396
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Parotitis, Splenomegaly, Hepatomegaly, Recurrent si... OMIM:256040
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Acute pancreatitis, Erythema nodosum, Orchitis, Parotitis, Cholecystitis, ... ORPHA:99827
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Atrial septal defect, Mixed total anoma... ORPHA:99125
Abetalipoproteinemia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Cardiomegaly, Hepatic ... ORPHA:14
Yunis-Varon Syndrome
Hypoplastic labia majora, Tetralogy of Fallot, Cryptorchidism, Micropenis, Atrial septal defect, ... ORPHA:3472
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Pneumothorax, Bicuspid aortic valve ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyopathy, Hepatom... ORPHA:365
Marburg Hemorrhagic Fever
Uveitis, Orchitis, Arthritis, Maculopapular exanthema, Pancreatitis, Pericarditis, Skin rash ORPHA:99826
Williams Syndrome
Cholelithiasis, Abnormal endocardium morphology, Hypogonadotropic hypogonadism, Tetralogy of Fall... ORPHA:904
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Generalized Arterial Calcification Of Infancy
Myocardial calcification, Pancreatic calcification, Ventricular hypertrophy, Cardiomegaly, Hepati... ORPHA:51608
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Recurrent respiratory infections, Aortic... OMIM:182250

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 Eaf2

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 Eaf2.

No publications found that use IMPC mice or data for Eaf2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Eaf2tm455204(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eaf2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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