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Gene: Mad2l1 MGI:1860374

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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:
MAD2 mitotic arrest deficient-like 1
Synonyms:
MAD2

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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 Mad2l1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Mad2l1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink... OMIM:616435
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Chromosome breakage, Lymphoproliferative disorder... OMIM:609981
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo... OMIM:605724
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm OMIM:310465
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... OMIM:617243
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Anemia, Liposarcoma ORPHA:166113
Asbestos Intoxication
Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial mor... ORPHA:2302
Fanconi Anemia, Complementation Group N
Aplastic anemia, Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by ... OMIM:610832
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Fanconi Anemia, Complementation Group S
Chromosome breakage, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Anemia OMIM:617883
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia, Bone marrow hypocellularity OMIM:615272
Transcobalamin Deficiency
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents, Pancytopenia, Anemia, Squamous cell carcinoma OMIM:613951
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... OMIM:617052
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Lymphoma, Recu... OMIM:210900
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Anemia OMIM:617244
Ataxia-Telangiectasia
Recurrent respiratory infections, Abnormality of chromosome stability, Neoplasm, Lymphopenia, Apl... ORPHA:100
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Fanconi Anemia, Complementation Group E
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu... OMIM:600901
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Fanconi Anemia, Complementation Group A
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Neu... OMIM:227650
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:609053
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Fanconi Anemia, Complementation Group C
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Bon... OMIM:227645
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Abnormality of chromosome stability, Leukocytosis, Lymphoma, Lymphade... ORPHA:99812
Fanconi Anemia, Complementation Group F
Pneumonia, Chromosomal breakage induced by crosslinking agents, Anemia, Leukopenia, Bone marrow h... OMIM:603467
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, ... ORPHA:221
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellula... OMIM:614083
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary inter... ORPHA:420741
Icf Syndrome
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... ORPHA:2268
Fanconi Anemia, Complementation Group D2
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Reticulocytopenia, Anemia, Bon... OMIM:227646
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Glioma, B-cell... ORPHA:647
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia OMIM:300514
Meningioma
Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat... ORPHA:2495
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... ORPHA:99889
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Abnormality of the pancreas, Neutropenia, Anemia ORPHA:175
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Myelodysplasia, ... ORPHA:84
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Pu... ORPHA:821

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 Mad2l1

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 Mad2l1.

No publications found that use IMPC mice or data for Mad2l1.

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