Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- No Viability Data
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.
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 Zmiz1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies | Patent ductus arteriosus | OMIM:618659 |
The table below shows human diseases predicted to be associated to Zmiz1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Congenital Heart Block | Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... | ORPHA:60041 | |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
Benign Paroxysmal Torticollis Of Infancy | Torticollis, Pallor | ORPHA:71518 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Hypertrophic cardiomyopathy, Pallor | OMIM:612989 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Hypertrophic cardiomyopathy, Pallor | OMIM:613561 | |
Dermatitis, Atopic | Dry skin, Pallor, Facial erythema | OMIM:603165 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Atrial septal defect, Ventricular septal defect, Pallor | ORPHA:49827 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Pallor | ORPHA:2786 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Cyclic Vomiting Syndrome | Cardiomyopathy, Pallor | OMIM:500007 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Rheumatic Fever | Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... | ORPHA:3099 | |
Hyperinsulinism Due To Ucp2 Deficiency | Hypertrophic cardiomyopathy, Pallor | ORPHA:276556 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Hypertrophic cardiomyopathy, Pallor | ORPHA:276575 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Hypertrophic cardiomyopathy, Pallor | ORPHA:276580 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
Fanconi Anemia, Complementation Group I | Ventricular septal defect, Short neck, Pallor, Atrial septal defect, Intrauterine growth retardat... | OMIM:609053 | |
X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Beta-Thalassemia | Hypertrophic cardiomyopathy, Pallor, Skin ulcer | ORPHA:848 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Myopathic Ehlers-Danlos Syndrome | Congenital muscular torticollis, Pallor | ORPHA:536516 | |
Dravet Syndrome | Limited neck range of motion, Pallor | ORPHA:33069 | |
Hb Bart'S Hydrops Fetalis | Pericarditis, Pallor | ORPHA:163596 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
American Trypanosomiasis | Myocarditis, Cardiomyopathy, Pallor | ORPHA:3386 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
Idiopathic Pulmonary Hemosiderosis | Pallor, Cardiomegaly | ORPHA:99931 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Congenital Total Pulmonary Venous Return Anomaly | Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... | ORPHA:99125 | |
Primary Myelofibrosis | Ecchymosis, Pallor, Petechiae, Purpura | ORPHA:824 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Pallor | OMIM:600462 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
Kcnq2-Related Epileptic Encephalopathy | Pallor, Facial erythema | ORPHA:439218 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
Diamond-Blackfan Anemia 1 | Ventricular septal defect, Tricuspid stenosis, Short neck, Coarctation of aorta, Pallor, Webbed n... | OMIM:105650 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Myelofibrosis | Pallor, Purpura | OMIM:254450 | |
Hereditary Spherocytosis | Restrictive cardiomyopathy, Pallor, Skin ulcer | ORPHA:822 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor | OMIM:615234 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Dominant Beta-Thalassemia | Dilated cardiomyopathy, Pallor, Skin ulcer | ORPHA:231226 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Fanconi Anemia, Complementation Group D2 | Patent ductus arteriosus, Anemic pallor, Abnormal heart morphology | OMIM:227646 | |
Degcags Syndrome | Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, Pallor, Pulmonic ste... | OMIM:619488 | |
Diamond-Blackfan Anemia | Ventricular septal defect, Short neck, Coarctation of aorta, Abnormal heart morphology, Pallor, W... | ORPHA:124 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
3-Hydroxy-3-Methylglutaric Aciduria | Dilated cardiomyopathy, Pallor | ORPHA:20 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Esophageal Atresia | Tetralogy of Fallot, Ventricular septal defect, Pallor, Coarctation of aorta | ORPHA:1199 | |
Sepsis In Premature Infants | Pallor, Petechiae, Purpura | ORPHA:90051 | |
Myopathy, Mitochondrial, And Ataxia | Pallor | OMIM:617675 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Beta-Thalassemia Major | Dilated cardiomyopathy, Pallor, Skin ulcer | ORPHA:231214 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Fumarase Deficiency | Perimembranous ventricular septal defect, Pallor | OMIM:606812 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
Waldenström Macroglobulinemia | Pallor, Purpura | ORPHA:33226 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Autosomal Recessive Malignant Osteopetrosis | Delayed eruption of teeth, Pulmonary artery stenosis, Abnormal pulmonary valve morphology, Pallor | ORPHA:667 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Alternating Hemiplegia Of Childhood | Cardiomyopathy, Pallor | ORPHA:2131 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor | ORPHA:300298 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Incontinentia Pigmenti | Delayed eruption of teeth, Erythema, Pallor | OMIM:308300 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Histiocytoid Cardiomyopathy | Ventricular septal defect, Pallor, Cardiomegaly | ORPHA:137675 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Prolactinoma | Pallor | ORPHA:2965 | |
Fanconi Anemia, Complementation Group E | Anemic pallor, Abnormal heart morphology | OMIM:600901 | |
Idiopathic Hypereosinophilic Syndrome | Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration | ORPHA:3260 | |
Fanconi Anemia, Complementation Group A | Anemic pallor, Abnormal heart morphology | OMIM:227650 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Ventricular septal defect, Anemic pallor | OMIM:227645 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Tsh-Secreting Pituitary Adenoma | Pericardial effusion, Pallor | ORPHA:91347 | |
Von Hippel-Lindau Disease | Myocarditis, Cardiomyopathy, Pallor | ORPHA:892 | |
Infection-Related Hemolytic Uremic Syndrome | Myocarditis, Pallor | ORPHA:544482 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor | ORPHA:329971 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Pallor | OMIM:253280 | |
Goodpasture Syndrome | Pallor | OMIM:233450 | |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies | Patent ductus arteriosus | OMIM:618659 |
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 Zmiz1.
There are 2 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Stage-specific roles for Zmiz1 in Notch-dependent steps of early T-cell development. | Blood (August 2018) | Zmiz1tm1c(EUCOMM)Hmgu | PMC6148450 |
The PIAS-like Coactivator Zmiz1 Is a Direct and Selective Cofactor of Notch1 in T Cell Development and Leukemia. | Immunity (October 2015) | Zmiz1tm1c(EUCOMM)Hmgu Zmiz1tm1a(EUCOMM)Hmgu | PMC4654973 |
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 |
---|---|---|
Zmiz1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Zmiz1tm1aNarl | KO first allele (reporter-tagged insertion with conditional potential) | ES Cells |
Zmiz1tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
Zmiz1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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