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Gene: Mad1l1 MGI:1341857

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MAD1 mitotic arrest deficient 1-like 1
Synonyms:
Mad1

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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 Mad1l1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mad1l1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Prostate Cancer
Prostate cancer OMIM:176807

The table below shows human diseases predicted to be associated to Mad1l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma
Chondrosarcoma OMIM:215300
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:180295
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma OMIM:601811
Oslam Syndrome
Osteosarcoma ORPHA:2760
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri... OMIM:135150
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Myopath... OMIM:112250
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Cryptorchidism, Renal transitional cell carcinoma, Basal cell carcinoma, Pheoch... ORPHA:2874
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Epidermal Nevus Syndrome
Lipoma, Weakness of long finger extensor muscles, Spinal cord tumor, Rhabdomyosarcoma ORPHA:35125
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Liposarcoma
Sarcoma ORPHA:69078
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Meige Disease
Angiosarcoma, Pleural effusion ORPHA:90186
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
Werner Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:277700
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... ORPHA:83469
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... ORPHA:77301
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma ORPHA:69077
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Skeletal muscle atrophy, Gl... ORPHA:647
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... ORPHA:662
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion ORPHA:314478
Desmoid Tumor
Fibroma, Neoplasm of the skin, Desmoid tumors ORPHA:873
Nijmegen Breakage Syndrome
Glioma, Rhabdomyosarcoma, Lymphoma, Medulloblastoma, Bronchiectasis, Recurrent pneumonia, Recurre... OMIM:251260
Rothmund-Thomson Syndrome Type 1
Calcinosis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Melanoma, Basal cell carcino... ORPHA:221008
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Abnormal lung lobation, Acute lymphoblastic l... ORPHA:1052
Diamond-Blackfan Anemia 21
Osteosarcoma OMIM:620072
Rothmund-Thomson Syndrome Type 2
Calcinosis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Melanoma, Basal ce... ORPHA:221016
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, Hip contracture, B-cell lymphoma, Ankle flexion contracture, Burkitt lymphoma, Kn... OMIM:620232
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Nephroblastoma, Embryonal rhabdomyosarcoma, Leukemia OMIM:257300
Terminal Osseous Dysplasia
Camptodactyly of toe, Fibroma, Multiple joint contractures, Camptodactyly of finger OMIM:300244
Fibrous Dysplasia Of Bone
Testicular neoplasm, Cutaneous myxoma, Thyroid carcinoma, Neoplasm of the breast, Osteosarcoma ORPHA:249
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Aicardi Syndrome
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... OMIM:304050
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Basal cell carcinoma, Osteosarcoma, Squamous cell carcinoma OMIM:268400
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Werner Syndrome
Renal neoplasm, Skeletal muscle atrophy, Acral lentiginous melanoma, Pulmonary artery stenosis, B... ORPHA:902
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Diastasis recti,... ORPHA:116
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... ORPHA:158057
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Recurrent pneumonia, Hepatosplenomegaly OMIM:619750
Diamond-Blackfan Anemia
Acute myeloid leukemia, Myelodysplasia, Adenocarcinoma of the colon, Malignant genitourinary trac... ORPHA:124
Atypical Werner Syndrome
Abnormality of the Achilles tendon, Renal neoplasm, Hepatic steatosis, Skeletal muscle atrophy, A... ORPHA:79474
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Cowden Syndrome 1
Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Hydrocele testi... OMIM:158350
Dermatomyositis
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... ORPHA:221
Costello Syndrome
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Bladder carcinoma, Macroglossia, Ves... OMIM:218040
Diamond-Blackfan Anemia 1
Small thenar eminence, Basal cell carcinoma, Myelodysplasia, Osteosarcoma OMIM:105650
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma ORPHA:44890
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Decreased testicular size, Carcinoma OMIM:610644
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ... ORPHA:217390
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Junctional Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma, Flexion contracture ORPHA:357154
Late-Onset Junctional Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell c... OMIM:278760
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Abnormality of the pulmonary vasculature ORPHA:33001
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Tuberous Sclerosis 1
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... OMIM:191100
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Desmoid tumors, Adenocarcinoma of the colon ORPHA:247798
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... ORPHA:1018
Cowden Syndrome
Endometrial carcinoma, Macroglossia, Follicular thyroid carcinoma, Cavernous hemangioma, Breast c... ORPHA:201
Monosomy 22
Schwannoma, Hepatosplenomegaly, Contractures of the large joints, Gonadal neoplasm, Meningioma, S... ORPHA:96123
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma, Camptodactyly of toe, Camptodactyly OMIM:610474
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib... ORPHA:276152
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Neurofibromatosis Type 1
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... ORPHA:636
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut... ORPHA:99880
Czech Dysplasia
Osteochondroma, Flexion contracture OMIM:609162
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Uterine leiomyoma, Thyr... ORPHA:143
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent pneumonia, Bronchiectasis, Squamous cell carcinoma,... OMIM:243700
Recessive Dystrophic Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79409
Cowden Syndrome 6
Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Hydrocele testis, Meningio... OMIM:615109
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Ho... OMIM:305000
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... ORPHA:157794
Tolchin-Le Caignec Syndrome
Osteochondroma, Diastasis recti, Cardiac rhabdomyoma OMIM:618971
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Pneumothorax, Rib exostoses, Scapular exostoses, Hemothorax ORPHA:321
Fanconi Anemia, Complementation Group P
Cryptorchidism, Squamous cell carcinoma OMIM:613951
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Liver abscess, Squamous cell carcinoma, Melanoma, Neoplasm of t... ORPHA:678
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... ORPHA:99889
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Flexion contracture, Squamous cell carcinoma OMIM:226600
Benign Schwannoma
Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnor... ORPHA:252164
Sotos Syndrome
Sacrococcygeal teratoma, Hip contracture, Astrocytoma, Ankle flexion contracture, Small cell lung... ORPHA:821
Trichorhinophalangeal Syndrome, Type Ii
Osteochondroma, Recurrent respiratory infections, Scapular winging, Bilateral cryptorchidism, Rec... OMIM:150230
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Knee flexion contracture, Elbow flexion contracture, Squamous cell carcinoma OMIM:148210
Bloom Syndrome
Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Squamous ... OMIM:210900
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... ORPHA:363700
Fanconi Anemia, Complementation Group E
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Carney Complex
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... ORPHA:1359
Fanconi Anemia, Complementation Group A
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group C
Cryptorchidism, Leukemia, Flexion contracture, Prolonged G2 phase of cell cycle OMIM:227645
Pallister-Hall Syndrome
Osteochondroma, Midline facial capillary hemangioma, Cryptorchidism, Abnormal lung lobation, Dist... ORPHA:672
Prostate Cancer
Prostate cancer OMIM:176807

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 Mad1l1

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 Mad1l1.

No publications found that use IMPC mice or data for Mad1l1.

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MGI Allele Allele Type Produced
Mad1l1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mad1l1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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