Gene Summary

MAD1 mitotic arrest deficient 1-like 1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Mad1l1tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal testis morphology Mad1l1tm1b(KOMP)Wtsi HOM Early adult 0.00

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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
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
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
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
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin ORPHA:626
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Ovarian thecoma, Nephroblastoma, Pleuropulmonary blastoma OMIM:180295
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma, Depressed nasal bridge OMIM:601811
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Spontaneous pneumothorax, Trichodiscoma, Cutaneous leiomyoma, R... OMIM:135150
Oslam Syndrome
Osteosarcoma ORPHA:2760
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Prostate Cancer
Prostate cancer OMIM:176807
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma, Skeletal muscle atrophy, Myopathy, Limb-girdle muscle w... OMIM:112250
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Oncogenic Osteomalacia
Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell tumor of bone, Neoplasm of the sk... ORPHA:352540
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Maffucci Syndrome
Neoplasm of the parathyroid gland, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Multiple en... ORPHA:163634
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Werner Syndrome
Meningioma, Osteosarcoma OMIM:277700
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Bazex Syndrome
Neoplasm, Liposarcoma, Lung adenocarcinoma ORPHA:166113
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Mast Cell Sarcoma
Hepatomegaly, Sarcoma ORPHA:66661
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Lipoma, Spinal cord tumor, Rhabdomyosarcoma ORPHA:35125
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Sarcoma ORPHA:69078
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Meige Disease
Pleural effusion, Laryngeal edema, Angiosarcoma ORPHA:90186
Neurofibromatosis, Type I
Lisch nodules, Neurofibromas, Plexiform neurofibroma, Pheochromocytoma, Optic nerve glioma, Menin... OMIM:162200
Infantile Myofibromatosis
Gingival fibromatosis, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Neoplasm ... ORPHA:2591
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Nijmegen Breakage Syndrome
Medulloblastoma, Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Glioma, Choanal atres... OMIM:251260
Monosomy 9Q22.3
Basal cell carcinoma, Medulloblastoma, Cardiac fibroma, Short nose, Odontogenic keratocysts of th... ORPHA:77301
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis, Abnor... OMIM:264600
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Nijmegen Breakage Syndrome
Recurrent pneumonia, Glioma, Recurrent respiratory infections, B-cell lymphoma, Neoplasm, T-cell ... ORPHA:647
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma, Neoplasm of the liver ORPHA:69077
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Pleuritis, Bronchiectasis, Neoplasm, Sarcoma, Neoplasm of... ORPHA:662
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Hepatomegaly, Sarcoma, Neoplasm of the ... ORPHA:83469
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Myelodysplasia, Muscular dystrophy, Neoplasm, Nephroblastoma, Stomach can... ORPHA:1052
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Desmoid Tumor
Fibroma, Intestinal polyposis, Neoplasm of the skin, Desmoid tumors ORPHA:873
Mosaic Variegated Aneuploidy Syndrome 1
Short nose, Nephroblastoma, Rhabdomyosarcoma, Leukemia, Anteverted nares, Wide nose, Depressed na... OMIM:257300
Baller-Gerold Syndrome
Short nose, Lymphoma, Osteosarcoma, Prominent nasal bridge, Narrow nasal bridge ORPHA:1225
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma, Pleural effusion ORPHA:314478
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Terminal Osseous Dysplasia
Fibroma, Camptodactyly of finger, Multiple joint contractures, Camptodactyly of toe OMIM:300244
Rothmund-Thomson Syndrome Type 2
Basal cell carcinoma, Myelodysplasia, Slender nose, Squamous cell carcinoma, Lymphoma, Calcinosis... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Basal cell carcinoma, Myelodysplasia, Squamous cell carcinoma, Calcinosis, Osteosarcoma, Leukemia... ORPHA:221008
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
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
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Apocrine hidrocystoma, Poroma, Squamous cell carcinoma OMIM:224750
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the rectum, Es... ORPHA:44890
Fibrous Dysplasia Of Bone
Abnormality of the sphenoid sinus, Neoplasm of the breast, Cutaneous myxoma, Thyroid carcinoma, O... ORPHA:249
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma... OMIM:610755
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Leiomyosarcoma, Paragang... ORPHA:139411
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Aicardi Syndrome
Hemangioma, Carcinoma, Teratoma, Recurrent pneumonia, Lipoma, Anteverted nares, Metastatic angios... OMIM:304050
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Short nose, Osteosarcoma, Squamous cell carcinoma, Depressed nasal bridge OMIM:268400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
17Q11 Microdeletion Syndrome
Atypical neurofibromatosis, Plexiform neurofibroma, Breast carcinoma, Glomus jugular tumor, Depre... ORPHA:97685
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Beckwith-Wiedemann Syndrome
Facial hemangioma, Macroglossia, Diastasis recti, Neuroblastoma, Gonadoblastoma, Leiomyosarcoma, ... ORPHA:116
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Werner Syndrome
Renal neoplasm, Ovarian neoplasm, Neoplasm of the oral cavity, Cutaneous melanoma, Meningioma, Ga... ORPHA:902
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Blackfan-Diamond Anemia
Myelodysplasia, Adenocarcinoma of the colon, Wide nasal bridge, Malignant genitourinary tract tum... ORPHA:124
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Costello Syndrome
Macroglossia, Tracheomalacia, Achilles tendon contracture, Rhabdomyosarcoma, Bladder carcinoma, B... OMIM:218040
Dyskeratosis Congenita, Autosomal Recessive 3
Squamous cell carcinoma OMIM:613988
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, Recurrent sinusitis, Pneumonia, Recurrent respiratory infections, ... ORPHA:217390
Gastrointestinal stroma tumor, Pulmonary fibrosis, Lymphoma, Neoplasm, Abnormal pulmonary interst... ORPHA:221
Diamond-Blackfan Anemia 1
Myelodysplasia, Osteosarcoma, Colon cancer OMIM:105650
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Atypical Werner Syndrome
Renal neoplasm, Ovarian neoplasm, Neoplasm of the oral cavity, Hepatic steatosis, Neoplasm of the... ORPHA:79474
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Neoplasm of the breast, Sarcoma, Testicular neoplasm ORPHA:457059
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hepatomegaly, Acute leukemia, Chronic leukemia, Sarcoma ORPHA:98292
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
Cowden Syndrome 1
Subcutaneous lipoma, Carcinoma, Meningioma, Fibroadenoma of the breast, Breast carcinoma, Ovarian... OMIM:158350
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Carney Complex
Osteochondroma, Cardiac myxoma, Bronchogenic cyst, Adrenocortical carcinoma, Parathyroid adenoma,... ORPHA:1359
Oral Submucous Fibrosis
Flexion contracture, Oropharyngeal squamous cell carcinoma, Abnormality of the pharynx ORPHA:357154
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Pheochromocytoma, Jaundice, Carcinoid tumor, Neurofibromas OMIM:162240
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Multiple Osteochondromas
Chondrosarcoma, Multiple exostoses, Neoplasm, Pelvic bone exostoses, Exostoses, Anteverted nares ORPHA:321
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma OMIM:610644
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Fibrosarcoma ORPHA:33001
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma, Joint contracture of the hand, Camptodactyly of toe OMIM:610474
Cowden Syndrome
Neoplasm of the central nervous system, Macroglossia, Fibroma, Endometrial carcinoma, Neoplasm of... ORPHA:201
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Optic nerve glioma, Ren... OMIM:191100
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormal respiratory system morphology, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Fibroma... ORPHA:1018
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Monosomy 22
Meningioma, Gonadal neoplasm, Sarcoma, Schwannoma, Contractures of the large joints, Hepatospleno... ORPHA:96123
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Insulinoma, Carcinoid tumor, Parathyroid adenoma, Extrahepatic cholestasi... ORPHA:276152
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Tracheomalacia, Atelectas... ORPHA:60032
Xeroderma Pigmentosum, Variant Type
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma OMIM:278750
Neurofibromatosis Type 1
Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Plexiform neurofib... ORPHA:636
Lhermitte-Duclos Disease
Macroglossia, Ovarian neoplasm, Neoplasm of the thyroid gland, Fibroadenoma of the breast, Trichi... ORPHA:65285
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Neuroendocrine neoplasm, Thyroid carcinoma, Skeletal muscle atrophy, Thymoma, S... ORPHA:99889
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Uterine leiomyoma, Renal hamartoma, Nephroblastoma, Thyroid carcinoma, Testicular neopla... ORPHA:99880
Tuberous Sclerosis Complex
Respiratory tract infection, Pancreatic endocrine tumor, Retinal astrocytic hamartoma, Cardiac rh... ORPHA:805
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Nephroblastoma, Renal hamartoma, Thyroid carci... ORPHA:143
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Tolchin-Le Caignec Syndrome
Cardiac rhabdomyoma, Diastasis recti, Osteochondroma, Wide nasal bridge, Prominent nose OMIM:618971
Bloom Syndrome
Azoospermia, Bronchiectasis, Recurrent upper respiratory tract infections, Lymphoma, Leukemia, Sq... OMIM:210900
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Insulinoma, Pituitary thyrotropic cell adenoma, Carcinoid tumor, Adre... ORPHA:652
Cowden Syndrome 6
Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast, Breast carcinoma, Thyroid adenoma, H... OMIM:615109
Dyskeratosis Congenita, X-Linked
Myelodysplasia, Cirrhosis, Carcinoma, Pulmonary fibrosis, Acute myeloid leukemia, Hodgkin lymphom... OMIM:305000
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Bulbous nose OMIM:613951
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Squamous cell carcinoma, Liver abscess, Neoplasm of the skin, M... ORPHA:678
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Wolfram Syndrome 1
Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Hypothyroidism OMIM:222300
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Flexion contracture, Squamous cell carcinoma OMIM:226600
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Sotos Syndrome
Hemangioma, Sacrococcygeal teratoma, Neuroblastoma, Flexion contracture, Neoplasm, Bilateral camp... ORPHA:821
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormality of the sphenoid sinus, Hemangioma, Lisch nodules, Optic nerve glioma, Ossifying fibro... ORPHA:363700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Elbow flexion contracture, Squamous cell carcinoma, Knee flexion contracture OMIM:148210
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Basal cell carcinoma, Pulmonary fibrosis, Hepatocellular carcinoma, Burkitt... ORPHA:3261
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Fanconi Anemia, Complementation Group E
Leukemia, Prolonged G2 phase of cell cycle OMIM:600901
Pallister-Hall Syndrome
Hypothalamic hamartoma, Bifid epiglottis, Short nose, Recurrent upper and lower respiratory tract... ORPHA:672
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273


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

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