Not currently registered for phenotyping at IMPC

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

Gene Summary

MAD1 mitotic arrest deficient 1-like 1

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 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
Matching phenotypes Source
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... 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
Matching phenotypes Source
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Chondrosarcoma OMIM:215300
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Ovarian thecoma, Nephroblastoma OMIM:180295
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma OMIM:601811
Oslam Syndrome
Osteosarcoma ORPHA:2760
Birt-Hogg-Dube Syndrome 1
Spontaneous pneumothorax, Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple l... OMIM:135150
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Limb-girdle muscle weaknes... OMIM:112250
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... ORPHA:352540
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Milroy Disease
Neoplasm of the skin, Angiosarcoma ORPHA:79452
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu... OMIM:620189
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Epidermal Nevus Syndrome
Lipoma, Rhabdomyosarcoma, Spinal cord tumor, Weakness of long finger extensor muscles ORPHA:35125
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Phakomatosis Pigmentokeratotica
Cutaneous melanoma, Pheochromocytoma, Nephroblastoma, Hemangioma, Renal transitional cell carcino... ORPHA:2874
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... ORPHA:2302
Sarcoma ORPHA:69078
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Meige Disease
Pleural effusion, Angiosarcoma ORPHA:90186
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Neurofibromatosis, Type I
Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neurofibroma, Astrocytoma... OMIM:162200
Werner Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:277700
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm ... ORPHA:83469
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Yellow Nail Syndrome
Biliary tract neoplasm, Recurrent respiratory infections, Neoplasm, Renal neoplasm, Sarcoma, Pleu... ORPHA:662
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system ORPHA:69077
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Nijmegen Breakage Syndrome
Acute leukemia, Recurrent pneumonia, Glioma, Skeletal muscle atrophy, Lymphoma, Neoplasm, B-cell ... ORPHA:647
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Abnormal lung lobation, Vaginal neoplasm, Stomach cancer, M... ORPHA:1052
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Ovarian Fibrothecoma
Ovarian fibroma, Pleural effusion, Diffuse leiomyomatosis, Fibrosarcoma ORPHA:314478
Nijmegen Breakage Syndrome
Recurrent pneumonia, Glioma, Lymphoma, Recurrent bronchitis, Medulloblastoma, Rhabdomyosarcoma, B... OMIM:251260
Diamond-Blackfan Anemia 21
Osteosarcoma OMIM:620072
Baller-Gerold Syndrome
Lymphoma, Osteosarcoma ORPHA:1225
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Calcinosis, Leukem... ORPHA:221008
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Osteochondroma, Hip contracture, Knee flexion contracture, B-cell lymp... OMIM:620232
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... ORPHA:44890
Legius Syndrome
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... ORPHA:137605
Terminal Osseous Dysplasia
Camptodactyly of toe, Multiple joint contractures, Fibroma, Camptodactyly of finger OMIM:300244
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Melanoma, Squamous cell carcinoma, Calcinos... ORPHA:221016
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... OMIM:610755
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Cutaneous myxoma, Testicular neoplasm, Neoplasm of the breast, Osteosarcoma ORPHA:249
Aicardi Syndrome
Recurrent pneumonia, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carci... OMIM:304050
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Werner Syndrome
Gastrointestinal carcinoma, Skeletal muscle atrophy, Cutaneous melanoma, Neoplasm of the oral cav... ORPHA:902
Mosaic Variegated Aneuploidy Syndrome 1
Leukemia, Embryonal rhabdomyosarcoma, Nephroblastoma OMIM:257300
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paragang... ORPHA:139411
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Squamous cell carcinoma, Osteosarcoma OMIM:268400
17Q11 Microdeletion Syndrome
Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro... ORPHA:97685
Tuberous Sclerosis 2
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... OMIM:613254
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Beckwith-Wiedemann Syndrome
Macroglossia, Neoplasm, Diastasis recti, Congenital diaphragmatic hernia, Nephroblastoma, Adrenoc... ORPHA:116
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Melanoma, Squamous cell carcinoma ORPHA:90342
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Colon cancer, Burkitt l... ORPHA:158057
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Recurrent pneumonia, Fibroma OMIM:619750
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Malignant genitourinary tract tumor, Acute myeloid leukemia, ... ORPHA:124
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Verrucae, Squamous cell carcinoma of the vulva, Recurrent sinusitis, Squamous cell car... ORPHA:217390
Atypical Werner Syndrome
Neoplasm of the skin, Skeletal muscle atrophy, Neoplasm of the oral cavity, Meningioma, Neoplasm ... ORPHA:79474
Diamond-Blackfan Anemia 1
Osteosarcoma, Small thenar eminence, Basal cell carcinoma, Myelodysplasia, Colon cancer OMIM:105650
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Costello Syndrome
Vestibular schwannoma, Pneumothorax, Achilles tendon contracture, Macroglossia, Bladder carcinoma... OMIM:218040
Cowden Syndrome 1
Thyroid adenoma, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast, Ovarian carcinoma, ... OMIM:158350
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma OMIM:610644
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma, Flexion contracture ORPHA:357154
Elevated circulating hepatic transaminase concentration, Lymphoma, Neoplasm, Inflammatory myopath... ORPHA:221
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Fibrosarcoma ORPHA:33001
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, Seborrheic ... OMIM:278760
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Aspiration pneumonia, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm... ORPHA:1018
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, ... OMIM:191100
Cowden Syndrome
Neoplasm of the skin, Macroglossia, Follicular thyroid carcinoma, Meningioma, Neoplasm of the thy... ORPHA:201
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Monosomy 22
Contractures of the large joints, Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, S... ORPHA:96123
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Epidermodysplasia Verruciformis
Squamous cell carcinoma, Verrucae ORPHA:302
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Squamous cell car... ORPHA:60032
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Camptodactyly of toe, Camptodactyly, Osteochondroma OMIM:610474
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... ORPHA:157794
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Renal angiomyolipoma, Parathyroid ... ORPHA:276152
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma OMIM:278750
Czech Dysplasia
Flexion contracture, Osteochondroma OMIM:609162
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Macroglossia, Ovarian n... ORPHA:65285
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblastoma, Parathyroid adenom... ORPHA:99880
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Nephroblast... ORPHA:143
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Squamous cell carcinoma, Acute myeloid l... OMIM:305000
Tolchin-Le Caignec Syndrome
Cardiac rhabdomyoma, Diastasis recti, Osteochondroma OMIM:618971
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Cowden Syndrome 6
Thyroid adenoma, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast, Hamartomatous polyp... OMIM:615109
Multiple Osteochondromas
Rib exostoses, Hemothorax, Osteochondroma, Pneumothorax, Scapular exostoses, Chondrosarcoma ORPHA:321
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Recurrent sinusitis, Sclerosing cholangitis, Squamous cell carcinoma, Recurr... OMIM:243700
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne... ORPHA:99889
Papillon-Lefèvre Syndrome
Neoplasm of the skin, Melanoma, Squamous cell carcinoma, Recurrent respiratory infections, Liver ... ORPHA:678
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma OMIM:613951
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma, Flexion contracture OMIM:226600
Sotos Syndrome
Small cell lung carcinoma, Ankle flexion contracture, Neoplasm, Hip contracture, Cholesteatoma, A... ORPHA:821
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Elbow flexion contracture, Squamous cell carcinoma, Knee flexion contracture OMIM:148210
Bloom Syndrome
Recurrent upper respiratory tract infections, Lymphoma, Azoospermia, Hepatic steatosis, Squamous ... OMIM:210900
Trichorhinophalangeal Syndrome, Type Ii
Multiple long-bone exostoses, Rib exostoses, Recurrent pneumonia, Recurrent upper respiratory tra... OMIM:150230
Carney Complex
Follicular thyroid carcinoma, Neoplasm of the pharynx, Ovarian dermoid cyst, Neoplasm of the rect... ORPHA:1359
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Spinal neurofibroma... ORPHA:363700
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid adenoma, T-cell lymphoma, Hepatitis, Fibroadenoma of the breast, Th... ORPHA:3261
Pallister-Hall Syndrome
Abnormal lung lobation, Midline facial capillary hemangioma, Osteochondroma, Distal arthrogryposi... ORPHA:672
Prostate Cancer
Prostate cancer OMIM:176807


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.

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
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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