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 | Intrauterine growth retardation, Endocardial fibroelastosis, Pallor, Patent foramen ovale, Perica... | 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 | Pallor, Torticollis | ORPHA:71518 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Hypertrophic cardiomyopathy, Pallor | OMIM:612989 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Dermatitis, Atopic | Dry skin, Facial erythema, Pallor | OMIM:603165 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Hypertrophic cardiomyopathy, Pallor | OMIM:613561 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Pallor, Atrial septal defect, Ventricular septal defect | ORPHA:49827 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Pallor | ORPHA:2786 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Cyclic Vomiting Syndrome | Pallor, Cardiomyopathy | OMIM:500007 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Rheumatic Fever | Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... | 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 | Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Short n... | OMIM:609053 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
Beta-Thalassemia | Hypertrophic cardiomyopathy, Pallor, Skin ulcer | ORPHA:848 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Myopathic Ehlers-Danlos Syndrome | Pallor, Congenital muscular torticollis | ORPHA:536516 | |
Dravet Syndrome | Limited neck range of motion, Pallor | ORPHA:33069 | |
Hb Bart'S Hydrops Fetalis | Pallor, Pericarditis | ORPHA:163596 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
American Trypanosomiasis | Myocarditis, Pallor, Cardiomyopathy | ORPHA:3386 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Idiopathic Pulmonary Hemosiderosis | Cardiomegaly, Pallor | ORPHA:99931 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
Primary Myelofibrosis | Purpura, Petechiae, Pallor, Ecchymosis | ORPHA:824 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Congenital Total Pulmonary Venous Return Anomaly | Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... | ORPHA:99125 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Kcnq2-Related Epileptic Encephalopathy | Facial erythema, Pallor | ORPHA:439218 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Pallor | OMIM:600462 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
Diamond-Blackfan Anemia 1 | Webbed neck, Intrauterine growth retardation, Pallor, Ventricular septal defect, Coarctation of a... | OMIM:105650 | |
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 | |
Hereditary Spherocytosis | Restrictive cardiomyopathy, Pallor, Skin ulcer | ORPHA:822 | |
Dominant Beta-Thalassemia | Dilated cardiomyopathy, Pallor, Skin ulcer | ORPHA:231226 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor | OMIM:615234 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Myelofibrosis | Purpura, Pallor | OMIM:254450 | |
Degcags Syndrome | Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Low pos... | OMIM:619488 | |
Fanconi Anemia, Complementation Group D2 | Abnormal heart morphology, Anemic pallor, Patent ductus arteriosus | OMIM:227646 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
Anemia, Sideroblastic, And Spinocerebellar Ataxia | Intrauterine growth retardation, Pallor | OMIM:301310 | |
Diamond-Blackfan Anemia | Webbed neck, Abnormal heart morphology, Pallor, Ventricular septal defect, Short neck, Coarctatio... | ORPHA:124 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
3-Hydroxy-3-Methylglutaric Aciduria | Dilated cardiomyopathy, Pallor | ORPHA:20 | |
Esophageal Atresia | Tetralogy of Fallot, Coarctation of aorta, Pallor, Ventricular septal defect | ORPHA:1199 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Sepsis In Premature Infants | Purpura, Petechiae, Pallor | ORPHA:90051 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Myopathy, Mitochondrial, And Ataxia | Pallor | OMIM:617675 | |
Beta-Thalassemia Major | Dilated cardiomyopathy, Pallor, Skin ulcer | ORPHA:231214 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Fumarase Deficiency | Perimembranous ventricular septal defect, Pallor | OMIM:606812 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Waldenström Macroglobulinemia | Purpura, Pallor | ORPHA:33226 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Alternating Hemiplegia Of Childhood | Pallor, Cardiomyopathy | ORPHA:2131 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Autosomal Recessive Malignant Osteopetrosis | Pulmonary artery stenosis, Abnormal pulmonary valve morphology, Delayed eruption of teeth, Pallor | ORPHA:667 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor | ORPHA:300298 | |
Incontinentia Pigmenti | Erythema, Pallor, Delayed eruption of teeth | OMIM:308300 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Histiocytoid Cardiomyopathy | Cardiomegaly, Pallor, Ventricular septal defect | ORPHA:137675 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Prolactinoma | Pallor | ORPHA:2965 | |
Fanconi Anemia, Complementation Group E | Abnormal heart morphology, Anemic pallor | OMIM:600901 | |
Idiopathic Hypereosinophilic Syndrome | Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration | ORPHA:3260 | |
Fanconi Anemia, Complementation Group A | Abnormal heart morphology, Anemic pallor | OMIM:227650 | |
Methylmalonic Aciduria And Homocystinuria, Cblc Type | Pallor | OMIM:277400 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Anemic pallor, Ventricular septal defect | OMIM:227645 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Von Hippel-Lindau Disease | Myocarditis, Pallor, Cardiomyopathy | ORPHA:892 | |
Tsh-Secreting Pituitary Adenoma | Pericardial effusion, Pallor | ORPHA:91347 | |
Infection-Related Hemolytic Uremic Syndrome | Myocarditis, Pallor | ORPHA:544482 | |
Neuroblastoma | Anemic pallor | ORPHA:635 | |
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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