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Gene: Eaf2 MGI:2146616

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Eaf2 (0 diseases)
Human diseases predicted to be associated with Eaf2 (228 diseases)

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	Matching phenotypes	Source
Lung Cancer	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Tumor Predisposition Syndrome 1	Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena...	OMIM:614327
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Prostate Cancer, Hereditary, 1	Prostate cancer	OMIM:601518
Prostate Cancer	Prostate cancer	OMIM:176807
Prostate Cancer, Hereditary, X-Linked 1	Prostate cancer	OMIM:300147
Prostatic Hyperplasia, Benign	Benign prostatic hyperplasia	OMIM:600082
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Prostate Cancer/Brain Cancer Susceptibility	Prostate cancer, Neoplasm of the central nervous system	OMIM:603688
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Decreased response to growth hormone stimulation tes...	OMIM:307200
Asbestos Intoxication	Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick...	ORPHA:2302
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Prostatitis, Acute infect...	ORPHA:31202
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar...	ORPHA:145
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Thyroid Cancer, Nonmedullary, 4	Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm	OMIM:616534
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Ovarian Cancer	Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma	OMIM:167000
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Ethanolaminosis	Cardiomegaly	OMIM:227150
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec...	OMIM:300755
Microsporidiosis	Lymphadenitis, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteomyelitis, Myositis, Peritoni...	ORPHA:2552
Legius Syndrome	Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M...	ORPHA:137605
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P...	ORPHA:157798
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Ovarian neoplasm, Breast carcinoma	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Ovarian neoplasm, Breast carcinoma	OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Cryptococcosis	Pneumonia, Osteomyelitis, Neoplasm, Peritonitis, Prostatitis, Lymphoid leukemia	ORPHA:1546
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Keratitis, Lymphoma, Sialadenitis, Orchitis, Prostatitis, Abnormality of th...	ORPHA:449563
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Sia...	ORPHA:449395
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Granulomatosis With Polyangiitis	Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, Sinusitis, I...	ORPHA:900
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l...	ORPHA:1183
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma	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
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino...	ORPHA:71505
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin, Sex reversal	ORPHA:85112
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi...	ORPHA:79140
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Adenocarcinoma of the colon, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cerv...	OMIM:620189
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Alkaptonuria	Black pigment gallstones, Prostatitis, Hypothyroidism, Osteoarthritis, Arthritis	ORPHA:56
Pilomatrixoma	Neoplasm of head and neck, Pilomatrixoma	ORPHA:91414
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Azoospermia, Pleural eff...	OMIM:235200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Squamous cell carcinoma of the skin, Portal hypertension, Cryptorchidism, Pulmonary fi...	OMIM:620365
Turcot Syndrome With Polyposis	Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast...	ORPHA:99818
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci...	OMIM:158320
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Premature Ovarian Failure 8	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:615723
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice	ORPHA:615
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal...	OMIM:180295
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Prostate cancer, Duodenal adenocarc...	OMIM:616415
Lynch Syndrome 4	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Lymphoma, Neoplasm, Lung adenocarcinoma,...	ORPHA:221
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly, Pulmonary hypoplasia	OMIM:614096
Mulibrey Nanism	Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurrent lower respiratory...	OMIM:253250
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou...	OMIM:610644
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect	OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Cardiomegaly	ORPHA:858
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	OMIM:300280
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C...	ORPHA:465508
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ...	ORPHA:733
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc...	OMIM:212140
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Nephrob...	OMIM:130650
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Elevated circulati...	OMIM:610755
Xeroderma Pigmentosum, Complementation Group B	Cutaneous melanoma, Hypogonadism, Squamous cell carcinoma of the skin, Neoplasm, Basal cell carci...	OMIM:610651
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cardiomegaly, He...	OMIM:600649
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:269920
Dyskeratosis Congenita, Digenic	Basal cell carcinoma, Decreased testicular size, Melanoma, Squamous cell carcinoma of the skin	OMIM:620040
Disabling Pansclerotic Morphea Of Childhood	Squamous cell carcinoma of the skin	OMIM:620443
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Pleural effusion, Ventricular septal defect, Cardiomegaly, Micropeni...	OMIM:616897
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomegaly	OMIM:619064
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Pleural effusion	OMIM:614702
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary arte...	ORPHA:3427
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe...	OMIM:115197
Xeroderma Pigmentosum, Complementation Group E	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	OMIM:278740
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Timothy Syndrome	Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card...	OMIM:601005
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri...	OMIM:252920
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ...	ORPHA:556
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne...	ORPHA:99889
Mogs-Cdg	Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Pulmonary edema, Left ventricular ...	ORPHA:79330
Sotos Syndrome	Small cell lung carcinoma, Abnormal heart morphology, Neoplasm, Acute lymphoblastic leukemia, Cry...	ORPHA:821
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Pneumonia, Meningioma, Abnormal heart morphology, Neoplasm, Cryptorchidism...	ORPHA:353281
Xeroderma Pigmentosum, Complementation Group C	Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis, Cutaneous melanoma	OMIM:278720
Oculocutaneous Albinism Type 1B	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	ORPHA:79434
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Emphysema, Squamous cell carcinoma of the skin, P...	ORPHA:363618
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia	ORPHA:3137
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf...	OMIM:620609
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	ORPHA:42
Tetrasomy 9P	Pulmonary hypoplasia, Absent gallbladder, Cryptorchidism, Pilomatrixoma, Biliary atresia, Abnorma...	ORPHA:3310
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Cirrhotic Cardiomyopathy	Cardiomegaly, Left atrial enlargement, Right atrial enlargement, Cirrhosis, Left ventricular hype...	ORPHA:57777
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car...	OMIM:201475
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Beckwith-Wiedemann Syndrome	Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Neoplasm, Cryptorchidis...	ORPHA:116
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Lymphatic Filariasis	Lymphadenitis, Abnormal scrotum morphology, Orchitis, Knee osteoarthritis, Vaginal hydrocele, Glo...	ORPHA:2035
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous v...	OMIM:620642
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr...	OMIM:617713
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Azoospermia, Hepato...	OMIM:602782
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall...	ORPHA:3384
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Pneumonia, Meningioma, Abnormal heart morphology, Cryptorchidism, Pilomatr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Pneumonia, Meningioma, Abnormal heart morphology, Cryptorchidism, Pilomatr...	ORPHA:353277
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio...	OMIM:614921
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Pulmonary hy...	OMIM:617022
Dyskeratosis Congenita, Autosomal Dominant 1	Squamous cell carcinoma of the skin, Hepatic necrosis, Interstitial pneumonitis, Cirrhosis, Pulmo...	OMIM:127550
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Medulloblastoma, Nephroblastoma, Cardiomegaly, Abnormal cardiac...	ORPHA:97297
Sickle Cell Disease	Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice	OMIM:603903
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Recurrent pneumonia, Abnormal...	ORPHA:1329
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin	ORPHA:220295
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Conjunctiv...	ORPHA:32960
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Elevated circula...	OMIM:608836
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab...	ORPHA:95430
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Pulmonary edema, Cardiomyopathy	OMIM:105210
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Familial Mediterranean Fever	Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis	OMIM:249100
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis, Cardiomyopathy	ORPHA:79430
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Respiratory tract infection, Cardiomegaly, Left ventricular hypertro...	ORPHA:308552
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Gaucher Disease, Perinatal Lethal	Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Pulmonary hypoplasia	OMIM:608013
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen...	ORPHA:51
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Pleural effusion, Cardiom...	OMIM:261740
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu...	ORPHA:980
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis	ORPHA:761
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Ogden Syndrome	Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Decreased testicular size, C...	OMIM:300855
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia...	OMIM:300257
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Brucellosis	Pneumonia, Hip osteoarthritis, Arteritis, Sacroiliac arthritis, Osteomyelitis, Infectious encepha...	ORPHA:1304
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Atelectasis, Cryptorchidism, Patent foramen ovale, Cardiomegaly, P...	OMIM:620371
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal...	ORPHA:228308
Mucolipidosis Ii Alpha/Beta	Recurrent pneumonia, Hypertrophic cardiomyopathy, Splenomegaly, Recurrent bronchitis, Cardiomegal...	OMIM:252500
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Familial Mediterranean Fever	Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Pericarditis	ORPHA:342
Behçet Disease	Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis...	ORPHA:117
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Histiocytoid Cardiomyopathy	Ventricular septal defect, Pulmonary edema, Cardiomegaly, Polycystic ovaries, Hepatomegaly	ORPHA:137675
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular...	OMIM:618278
Glycogen Storage Disease Ii	Pleural effusion, Splenomegaly, Cardiomegaly, Hepatomegaly, Recurrent respiratory infections	OMIM:232300
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Mucopolysaccharidosis Type 3	Aspiration pneumonia, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morph...	ORPHA:581
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl...	ORPHA:48435
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly	OMIM:230000
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Pleural effusion, Cardiomegaly, Hepatomegaly, Right atria...	ORPHA:1677
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Squamous cell carcinoma of the skin	ORPHA:79396
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Hypertrophic cardiomyopathy, Respiratory tract infection, Cardiomegaly, Left ventric...	ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Recurrent respiratory ...	ORPHA:99125
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Car...	ORPHA:14
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def...	ORPHA:3472
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra...	OMIM:256040
Crimean-Congo Hemorrhagic Fever	Parotitis, Morbilliform rash, Adrenal insufficiency, Cholecystitis, Orchitis, Hyperhidrosis, Eryt...	ORPHA:99827
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, Pneumothorax	ORPHA:91387
Williams Syndrome	Precocious puberty, Cholelithiasis, Peripheral pulmonary artery stenosis, Recurrent respiratory i...	ORPHA:904
Marburg Hemorrhagic Fever	Uveitis, Skin rash, Orchitis, Pancreatitis, Arthritis, Maculopapular exanthema, Pericarditis	ORPHA:99826
Tropical Endomyocardial Fibrosis	Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car...	ORPHA:75565
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Pancreatic calcification, Cardiomegaly, Hepatic calcification, Pericardi...	ORPHA:51608
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Pleural effusion, Cardiomegaly, Mitral valve c...	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

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

MGI Allele	Allele Type	Produced
Eaf2^{tm455204(L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Eaf2^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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