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Gene: Apex1 MGI:88042

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

apurinic/apyrimidinic endonuclease 1

Synonyms:

Ref-1, HAP1

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 Apex1 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 Apex1 (0 diseases)
Human diseases predicted to be associated with Apex1 (180 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Apex1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Odontoma, Myocarditis	ORPHA:2724
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Raynaud phenomenon, Myocarditis, Congestive heart failure, Neoplasm, Palpita...	ORPHA:206569
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Acquired Ichthyosis	Recurrent skin infections, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma	ORPHA:454
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Hypotension, Multiple myeloma, Arrhythmia, Pancreatitis	ORPHA:188
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis	OMIM:602248
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, A...	ORPHA:3099
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Constrictive pericarditis, Arthritis	OMIM:208250
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Myocarditis, Keratoconjunc...	ORPHA:81
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis...	OMIM:617321
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Lymphoma, Recurrent pneumonia, Synovitis, Arthritis, Rhini...	ORPHA:47612
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Prolonged QTc interval, Malar rash, Serositis	ORPHA:231111
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Progressive Osseous Heteroplasia	Osteoarthritis, Sarcoma	ORPHA:2762
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Systemic-Onset Juvenile Idiopathic Arthritis	Juvenile rheumatoid arthritis, Anterior uveitis, Pericarditis, Skin rash	ORPHA:85414
Microscopic Polyangiitis	Episcleritis, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Increased inflammatory respon...	ORPHA:727
American Trypanosomiasis	Skin rash, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Infectious encephal...	ORPHA:3386
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral...	ORPHA:2848
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pericarditis	ORPHA:163596
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Abnorm...	ORPHA:183
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Adult-Onset Still Disease	Pericarditis, Skin rash, Myocarditis, Hepatitis, Arthritis	ORPHA:829
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Hypotension, Infectious encephalitis	ORPHA:83317
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr...	ORPHA:139402
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P...	ORPHA:31205
Legionnaires Disease	Pericarditis, Myocarditis, Hepatitis, Endocarditis, Hypotension, Arrhythmia, Infectious encephali...	ORPHA:549
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Septic art...	ORPHA:449280
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic endocr...	ORPHA:892
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma	ORPHA:296
Bacterial Toxic-Shock Syndrome	Shock, Fasciitis, Sinusitis, Myositis, Pneumonia, Tachycardia, Osteomyelitis, Skin rash, Myocardi...	ORPHA:36234
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Myocarditis, Uveitis,...	ORPHA:3452
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu...	OMIM:613736
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Pericarditis, Myositis, Skin rash, Gastritis, Myocarditis, Arthritis...	ORPHA:809
Congenital Enterovirus Infection	Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cardiomyopathy, Hypotension, Infectious ...	ORPHA:292
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Dermatomyositis	Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Myocardial infarction, Gastrointesti...	ORPHA:221
Systemic Sclerosis	Pericarditis, Barrett esophagus, Osteomyelitis, Glomerulonephritis, Nail bed telangiectasia, Righ...	ORPHA:90291
Q Fever	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Maculopapular exanthema, Pneumonia,...	ORPHA:781
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Rhabdoid Tumor	Renal neoplasm, Neoplasm of the central nervous system, Hypertension, Internal hemorrhage, Sarcoma	ORPHA:69077
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Relapsing Polychondritis	Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc...	ORPHA:728
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He...	ORPHA:73263
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Skin rash, Angina pecto...	ORPHA:93672
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ...	ORPHA:2331
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Myositis, Fasciitis, Skin rash, Orchitis, Peritonitis, Vasculitis, Uveitis, Arthrit...	ORPHA:32960
Yellow Nail Syndrome	Renal neoplasm, Sinusitis, Bronchiectasis, Neoplasm of the lung, Neoplasm, Rhinitis, Pulmonary ar...	ORPHA:662
Aicardi-Goutieres Syndrome 9	Pericarditis, Acute pancreatitis, Chilblains, Portal hypertension, Pericardial effusion, Hyperten...	OMIM:619487
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N...	ORPHA:2591
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Arrhythm...	ORPHA:397
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Uveitis, Synovitis, Hypertensio...	OMIM:186580
Immunodeficiency 22	Panniculitis, Pericarditis, Capillary leak, Chronic oral candidiasis	OMIM:615758
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis...	ORPHA:2552
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Listeriosis	Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Peritonit...	ORPHA:533
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic shock, C...	ORPHA:810
Lujo Hemorrhagic Fever	Shock, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Subconjunctival hemo...	ORPHA:319213
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o...	ORPHA:29207
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Familial Mediterranean Fever	Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis...	ORPHA:342
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Abnormal pericardium morphology, Acute colitis, Congestive heart failure	ORPHA:67
Werner Syndrome	Renal neoplasm, Acral lentiginous melanoma, Telangiectasia of the skin, Myocardial infarction, Co...	ORPHA:902
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Recurrent ...	ORPHA:900
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Corneal neovascularization, Chronic rhinitis, Squamous cell carcinoma	OMIM:615225
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep...	ORPHA:1304
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo...	OMIM:610755
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif...	ORPHA:99827
Liposarcoma	Sarcoma	ORPHA:69078
Nocardiosis	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis, Lymphadenitis...	ORPHA:31204
Congenital Disorder Of Glycosylation, Type Ia	Pericardial effusion, Cardiomyopathy, Pericarditis	OMIM:212065
Familial Mediterranean Fever	Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas	OMIM:249100
Ovarian Fibrothecoma	Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis	ORPHA:314478
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Vasculitis, Vas...	ORPHA:228123
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ...	ORPHA:83469
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ...	ORPHA:90340
Xeroderma Pigmentosum Variant	Keratitis, Telangiectasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma	ORPHA:90342
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Squamous cell carcinoma, Squam...	ORPHA:217390
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Myocarditis...	ORPHA:466677
Aymé-Gripp Syndrome	Pericardial effusion, Patent ductus arteriosus, Pericarditis	ORPHA:1272
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ...	ORPHA:449395
Telangiectasia, Hereditary Hemorrhagic, Type 5	Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Desmoid Tumor	Gastrointestinal hemorrhage, Fibroma, Neoplasm of the skin, Desmoid tumors	ORPHA:873
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Secondary Intestinal Lymphangiectasia	B-cell lymphoma, Right ventricular failure, Lymphoma, Intestinal bleeding, Constrictive pericarditis	ORPHA:90363
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Facial telangiectasia, Squamous cell carcinoma	ORPHA:50944
Cowden Syndrome 1	Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Me...	OMIM:158350
Epidermodysplasia Verruciformis	Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous c...	ORPHA:302
Marburg Hemorrhagic Fever	Shock, Pericarditis, Tachycardia, Maculopapular exanthema, Skin rash, Orchitis, Pancreatitis, Hyp...	ORPHA:99826
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Skin rash, Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma	ORPHA:44890
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Pneumonia, Myocarditis, Hypertension, Septic arthritis, Pancreatitis, Acute ...	ORPHA:544482
Tetrasomy 9P	Pericarditis, Myositis, Dextrocardia, Raynaud phenomenon, Pilomatrixoma, Arthritis, Abnormal card...	ORPHA:3310
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Cheilitis Glandularis	Neoplasm, Squamous cell carcinoma	ORPHA:1221
Retinoblastoma	Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast...	ORPHA:790
Lymphedema-Distichiasis Syndrome	Recurrent skin infections, Patent ductus arteriosus, Tubulointerstitial nephritis, Conjunctivitis...	ORPHA:33001
Milroy Disease	Angiosarcoma, Erysipelas, Neoplasm of the skin	ORPHA:79452
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79405
Leptospirosis	Pericarditis, Skin rash, First degree atrioventricular block, Hepatitis, Uveitis, Retinal hemorrh...	ORPHA:509
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymo...	OMIM:613254
Retinoblastoma	Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Late-Onset Junctional Epidermolysis Bullosa	Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79406
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Histiocytoma, Os...	OMIM:112250
Kikuchi-Fujimoto Disease	Skin rash, Pustule, Myocarditis, Vasculitis, Vasculitis in the skin, Malar rash	ORPHA:50918
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Squamous cell carcinoma	ORPHA:542592
African Trypanosomiasis	Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Congestive heart failure, Second degree atrio...	ORPHA:3385
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,...	ORPHA:158057
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,...	OMIM:243700
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Self-Improving Dystrophic Epidermolysis Bullosa	Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79411
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Ayme-Gripp Syndrome	Pericarditis	OMIM:601088
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Recurrent pneumonia, Mitral regurgitation	OMIM:619750
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr...	ORPHA:733
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma, Squamous cell carcinoma	OMIM:602540
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Monosomy 22	Seborrheic dermatitis, Schwannoma, Gonadal neoplasm, Meningioma, Sarcoma	ORPHA:96123
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma, Cheilitis	ORPHA:357154
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Hypertension, Neoplasm, Pheochromocy...	ORPHA:636
Xeroderma Pigmentosum, Variant Type	Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Conjunctiviti...	OMIM:278750
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Meige Disease	Angiosarcoma, Recurrent bacterial skin infections, Recurrent skin infections	ORPHA:90186
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Carcinoma	OMIM:610644
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama...	ORPHA:201
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ...	ORPHA:678
Aicardi Syndrome	Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang...	OMIM:304050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph...	ORPHA:1018
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Syncope, Squamous cell carcinoma	ORPHA:60032
Recessive Dystrophic Epidermolysis Bullosa Inversa	Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79409
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib...	ORPHA:276152
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ...	ORPHA:99880
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodgkin lymphoma, ...	OMIM:305000
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ...	ORPHA:143
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Atrial septal defect, Sinusitis, Ventricular septal defect, Schwannoma, Ossifying fibroma, Abnorm...	ORPHA:363700
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Squamous cell carcinoma	OMIM:618373
Pmm2-Cdg	Pericarditis, Angina pectoris, Pericardial effusion, Intracranial hemorrhage, Aspiration pneumoni...	ORPHA:79318

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 Apex1

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 Apex1.

No publications found that use IMPC mice or data for Apex1.

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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
Apex1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Apex1^{tm97083(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Apex1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Apex1^{tm446251(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Apex1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Apex1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Apex1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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