Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Prostate Cancer
Prostate cancer OMIM:176807
Prostate Cancer, Hereditary, X-Linked 1
Prostate cancer OMIM:300147
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Prostate Cancer, Hereditary, 1
Neoplasm, Prostate cancer OMIM:601518
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Prostate Cancer/Brain Cancer Susceptibility
Neoplasm of the central nervous system, Prostate cancer OMIM:603688
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Neoplasm, Enteroviral hepatitis... OMIM:300755
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma OMIM:167000
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
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Multinodular goiter, Pilomatri... ORPHA:276399
Prostatitis, Cutaneous abscess, Acute infectious pneumonia, Pneumonia, Septic arthritis, Foot ost... ORPHA:31202
Bazex Syndrome
Neoplasm, Liposarcoma, Lung adenocarcinoma ORPHA:166113
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Myocardial fibrosis, Interl... ORPHA:2302
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias 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
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Serrated Polyposis Syndrome
Biliary tract neoplasm, Prostate cancer, Ovarian neoplasm, Germ cell neoplasia, Colorectal polypo... ORPHA:157798
Peritonitis, Thyroiditis, Pneumonia, Abnormality of the parathyroid gland, Myocarditis, Sinusitis... ORPHA:2552
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Cardiomegaly OMIM:227150
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Igg4-Related Ophthalmic Disease
Prostatitis, Non-Hodgkin lymphoma, Enlarged lacrimal glands, Sialadenitis, Abnormality of the ant... ORPHA:449563
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Igg4-Related Kidney Disease
Prostatitis, Sialadenitis, Pericarditis, Arteritis, Abnormality of the anterior pituitary, Inters... ORPHA:449395
Prostatitis, Peritonitis, Pneumonia, Neoplasm, Lymphoid leukemia, Osteomyelitis ORPHA:1546
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Prostatitis, Osteoarthritis, Arthritis ORPHA:56
Granulomatosis With Polyangiitis
Prostatitis, Skin rash, Pericarditis, Increased inflammatory response, Chronic otitis media, Infl... ORPHA:900
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
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Sex reversal, Squamous cell carcinoma of the skin ORPHA:85112
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
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
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Elevated hepatic transaminase, Pleural effusion, Hepatocellular carcinoma... OMIM:235200
Gastrointestinal stroma tumor, Pericarditis, Pulmonary fibrosis, Lymphoma, Neoplasm, Abnormal pul... ORPHA:221
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Ovarian cyst, Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Rhabdomyosarcoma, Embryonal, 2
Goiter, Multinodular goiter, Pleuropulmonary blastoma, Nephroblastoma, Ovarian thecoma, Embryonal... OMIM:180295
Mulibrey Nanism
Myocardial fibrosis, Hypoplastic frontal sinuses, Wide nasal bridge, Hepatomegaly, Nephroblastoma... OMIM:253250
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomy... OMIM:617713
Pilomatrixoma OMIM:132600
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, ... ORPHA:324410
Ganglioneuroma, Neoplasm of the adrenal gland, Colorectal polyposis, Multiple intestinal neurofib... ORPHA:251992
Squamous cell carcinoma of the skin ORPHA:79358
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Testicular atrophy, C... ORPHA:465508
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Ambiguous genitalia, Ovotestis, Carcinoma, Decreased testicular size, Extern... OMIM:610644
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Pneumonia, Cardiomegaly, Bronchitis, Tetralogy o... OMIM:601005
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine... OMIM:212140
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the liver, Uterine neoplasm,... ORPHA:2126
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cardiomegaly, Elevated hepatic transaminase ORPHA:858
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... OMIM:610755
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Infantile Sialic Acid Storage Disease
Hepatomegaly, Anteverted nares, Cardiomegaly, Splenomegaly OMIM:269920
Beckwith-Wiedemann Syndrome
Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomegaly, Pancreatic hyperpl... OMIM:130650
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Cutaneous melanoma, Neoplasm, Squamous cell carcinoma of the skin, Hypogona... OMIM:610651
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Pulmonary edema, Cardiomegaly, Ventr... OMIM:115197
Bladder Diverticulum
Prominent prostate median bar, Urethral sphincter sclerosis OMIM:109820
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Anteverted nares, Ventricular septal defect, Pleural effusion, Wide nasal bridge, Pul... OMIM:616897
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Neuroendocrine neoplasm, Thyroid carcinoma, Thymoma, Small cell lung carcinoma ORPHA:99889
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dila... OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase OMIM:619064
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Cantu Syndrome
Pericardial effusion, Wide nasal bridge, Congenital hypertrophy of left ventricle, Cardiomegaly, ... OMIM:239850
Skin rash, Abnormality of the menstrual cycle, Prostate neoplasm, Neoplasm of the rectum, Urinary... ORPHA:556
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia ORPHA:3137
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Hepatomegaly, Cardio... OMIM:252920
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Ventricular hypertrophy, Mitral valve calcification, Emphysema, Papillary r... ORPHA:363618
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278720
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Sotos Syndrome
Cryptorchidism, Hydrocele testis, Hemangioma, Sacrococcygeal teratoma, Atrial septal defect, Neur... ORPHA:821
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly, Elevated hepatic transaminase OMIM:255120
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Atrial septal defect, Pilomatrixoma, Abnormal heart morphology, Ventricular septa... ORPHA:353281
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Urethral obstruction, Abnormality of the scrotum, Lymphadenitis, ... ORPHA:2035
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver function, Cardiom... ORPHA:42
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overridi... OMIM:617022
Tetrasomy 9P
Cryptorchidism, Bulbous nose, Pilomatrixoma, Oligospermia, Pericarditis, Abnormal mitral valve mo... ORPHA:3310
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Cardiomegaly, Anteverted nares, Wide nose, Depressed nasal bridge OMIM:613320
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Hype... OMIM:201475
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Anteverted nares, Ventricular septal defect, Hypergonadotropic... OMIM:602782
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Beckwith-Wiedemann Syndrome
Cryptorchidism, Facial hemangioma, Neuroblastoma, Pseudohypoparathyroidism, Gonadoblastoma, Enlar... ORPHA:116
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly, Labial hypertrophy, Precoc... ORPHA:96191
Bohring-Opitz Syndrome
Medulloblastoma, Cholelithiasis, Wide nasal bridge, Nephroblastoma, Cardiomegaly, Abnormal cardia... ORPHA:97297
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly OMIM:603903
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Orchitis, Uveitis, Conjunctivitis, Erysipelas, Fasciitis, M... ORPHA:32960
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Myelodysplasia, Pulmonary fibrosis, Interstitial pneumonitis, Squamous cell carcinoma ... OMIM:127550
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Long nose, Cardiomegaly OMIM:618143
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Bulbous nose, Enlarged kidney, Macrovesicular hepatic steatosis, H... OMIM:608836
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, Hydrocele testis, Atrial septal defect, Pilomatrixoma, Abnormal heart morphology,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, Hydrocele testis, Atrial septal defect, Pilomatrixoma, Abnormal heart morphology,... ORPHA:353277
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Craniofaciofrontodigital Syndrome
Short nose, Abnormal heart morphology, Cardiomegaly, Anteverted nares, Depressed nasal bridge OMIM:114620
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Familial Mediterranean Fever
Peritonitis, Pericarditis, Orchitis, Erysipelas, Crohn's disease, Arthritis OMIM:249100
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Hepatomegaly, Displacement of the papillary muscles, Righ... ORPHA:1329
Mucolipidosis Ii Alpha/Beta
Recurrent bronchitis, Cavernous hemangioma, Hepatomegaly, Splenomegaly, Cardiomegaly, Recurrent p... OMIM:252500
Absent/hypoplastic paranasal sinuses, Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent respira... OMIM:230000
Gaucher Disease, Perinatal Lethal
Short nose, Hepatomegaly, Cardiomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Anteve... OMIM:608013
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pulmonary edema, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Oculocutaneous Albinism
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:55
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Orchitis, Erysipelas, Pancreatitis, Osteoarthritis, Arthritis ORPHA:342
Kid Syndrome
Neoplasm, Cryptorchidism, Squamous cell carcinoma of the skin ORPHA:477
Epididymitis, Endocarditis, Pericarditis, Arteritis, Hip osteoarthritis, Orchitis, Pneumonia, Sep... ORPHA:1304
Immunoglobulin A Vasculitis
Skin rash, Pustule, Orchitis, Episcleritis, Encephalitis, Arthritis ORPHA:761
Oculocutaneous Albinism Type 2
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79432
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Chronic lymphatic leukemia, Enchondroma, Prolonged neonatal jaundi... ORPHA:51
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Cardiomyopathy, Squamous cell carcinoma of the skin, Pulmonary fibrosis ORPHA:79430
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Wide nasal bridge, Cardiomegaly, Anteverted nares, Hypertrophic ... ORPHA:1517
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Narrow nasal bridge, Right ventr... OMIM:300967
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder ORPHA:349
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Elevated circulating alanine aminotransferase concentration, Hepatom... ORPHA:308552
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Recurrent respiratory infections, Splenomegaly OMIM:232300
Behçet Disease
Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic neuritis, Orchitis... ORPHA:117
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Increased hepatic glycogen content, Cardiomyopathy OMIM:619259
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatomegaly, Hepatic calcification, Cardiomegaly, Hepatic failure, Abnormal m... ORPHA:228308
Histiocytoid Cardiomyopathy
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Laryngeal web, Cardiomegaly, Pulmona... ORPHA:137675
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Abnormality of the larynx, Laryngomalacia, Abnormal epiglottis morphology, Squamous cell carcinom... ORPHA:79396
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Greenberg Dysplasia
Abnormal lung lobation, Tracheal calcification, Pleural effusion, Hepatomegaly, Hepatic calcifica... OMIM:215140
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Atelectasis OMIM:618278
Mucopolysaccharidosis Type 3
Respiratory tract infection, Abnormal mitral valve morphology, Abnormal aortic valve morphology, ... ORPHA:581
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Wide nose ORPHA:2463
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Elevated hepatic transaminase, Recurrent upper respiratory tract infections, Recurr... OMIM:256040
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Yunis-Varon Syndrome
Cryptorchidism, Atrial septal defect, Anteverted nares, Ventricular septal defect, Clitoral hyper... ORPHA:3472
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Card... ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Elevated circulating alanine aminotransferase concentration, Atelect... ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Hemoptysis ORPHA:91387
Williams Syndrome
Cryptorchidism, Abnormal endocardium morphology, Peripheral pulmonary artery stenosis, Cardiomega... ORPHA:904
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Depressed nasal bridge ORPHA:79280
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Pericardial effusion, Myocardial calcification, Hepatic calcification, P... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Recu... OMIM:182250


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.

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

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