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Gene: Zmiz1 MGI:3040693

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Gene Summary

Name:
zinc finger, MIZ-type containing 1
Synonyms:
Zimp10,  Rai17

Order Alleles

IMPC Data Collections

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.

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Viewing: all phenotypes

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 Zmiz1 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 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
Non-Specific Syndromic Intellectual Disability
Pulmonary artery dilatation, Aortic root aneurysm ORPHA:528084

The table below shows human diseases predicted to be associated to Zmiz1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 60
Pallor OMIM:613983
Retinitis Pigmentosa 81
Pallor OMIM:617871
Optic Atrophy 9
Pallor OMIM:616289
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Optic Atrophy 1
Pallor OMIM:165500
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Pallor, Atrial septal defect ORPHA:49827
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Retinitis Pigmentosa 70
Pallor OMIM:615922
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Retinitis Pigmentosa 27
Pallor OMIM:613750
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Breath-Holding Spells
Pallor OMIM:607578
Hemoglobin D Disease
Pallor ORPHA:90039
Retinitis Pigmentosa 73
Pallor OMIM:616544
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... ORPHA:3099
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Fanconi Anemia, Complementation Group I
Atrial septal defect, Pallor, Short neck, Ventricular septal defect, Patent foramen ovale, Intrau... OMIM:609053
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Beta-Thalassemia
Skin ulcer, Hypertrophic cardiomyopathy, Pallor ORPHA:848
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Myopathic Ehlers-Danlos Syndrome
Pallor, Congenital muscular torticollis ORPHA:536516
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Hb Bart'S Hydrops Fetalis
Pallor, Pericarditis ORPHA:163596
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Dravet Syndrome
Pallor, Limited neck range of motion ORPHA:33069
American Trypanosomiasis
Pallor, Cardiomyopathy, Myocarditis ORPHA:3386
Retinitis Pigmentosa 51
Pallor OMIM:613464
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Idiopathic Pulmonary Hemosiderosis
Pallor, Cardiomegaly ORPHA:99931
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Primary Myelofibrosis
Pallor, Purpura, Ecchymosis, Petechiae ORPHA:824
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Rare Circulatory System Disease
Pallor, Arterial calcification ORPHA:98028
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Diamond-Blackfan Anemia 1
Atrial septal defect, Tricuspid stenosis, Pallor, Short neck, Coarctation of aorta, Ventricular s... OMIM:105650
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Cold Agglutinin Disease
Pallor ORPHA:56425
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Irida Syndrome
Pallor ORPHA:209981
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Hereditary Spherocytosis
Restrictive cardiomyopathy, Skin ulcer, Pallor ORPHA:822
Myelofibrosis
Pallor, Purpura OMIM:254450
Pyruvate Kinase Deficiency Of Red Cells
Pallor, Intrauterine growth retardation OMIM:266200
Retinitis Pigmentosa 75
Pallor OMIM:617023
Degcags Syndrome
Atrial septal defect, Dysplastic pulmonary valve, Pulmonic stenosis, Pallor, Ventricular septal d... OMIM:619488
Dominant Beta-Thalassemia
Skin ulcer, Dilated cardiomyopathy, Pallor ORPHA:231226
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Abnormal heart morphology OMIM:227646
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Blackfan-Diamond Anemia
Atrial septal defect, Pallor, Short neck, Coarctation of aorta, Ventricular septal defect, Webbed... ORPHA:124
Tay-Sachs Disease
Pallor OMIM:272800
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Fumarase Deficiency
Pallor OMIM:606812
Beta-Thalassemia Major
Skin ulcer, Dilated cardiomyopathy, Pallor ORPHA:231214
Sepsis In Premature Infants
Pallor, Purpura, Petechiae ORPHA:90051
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Esophageal Atresia
Ventricular septal defect, Pallor, Coarctation of aorta, Tetralogy of Fallot ORPHA:1199
Senior-Loken Syndrome 8
Pallor OMIM:616307
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dilated cardiomyopathy ORPHA:20
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
Childhood Absence Epilepsy
Pallor ORPHA:64280
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Letterer-Siwe Disease
Pallor OMIM:246400
Elliptocytosis 1
Pallor OMIM:611804
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Pallor, Delayed eruption of teeth ORPHA:667
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Alternating Hemiplegia Of Childhood
Pallor, Cardiomyopathy ORPHA:2131
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Pituitary Apoplexy
Pallor ORPHA:95613
Aregenerative Anemia
Pallor ORPHA:101096
Adenohypophysitis
Pallor ORPHA:95512
Prolactinoma
Pallor ORPHA:2965
Histiocytoid Cardiomyopathy
Ventricular septal defect, Pallor, Cardiomegaly ORPHA:137675
Incontinentia Pigmenti
Pallor, Erythema, Delayed eruption of teeth OMIM:308300
Panhypophysitis
Pallor ORPHA:95513
Fanconi Anemia, Complementation Group E
Anemic pallor, Abnormal heart morphology OMIM:600901
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Idiopathic Hypereosinophilic Syndrome
Pallor, Dilated cardiomyopathy, Myocardial eosinophilic infiltration ORPHA:3260
Fanconi Anemia, Complementation Group A
Anemic pallor, Abnormal heart morphology OMIM:227650
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Anemic pallor, Intrauterine growth retardation OMIM:227645
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Pearson Marrow-Pancreas Syndrome
Pallor, Erythema OMIM:557000
Tsh-Secreting Pituitary Adenoma
Pallor, Pericardial effusion ORPHA:91347
Von Hippel-Lindau Disease
Pallor, Cardiomyopathy, Myocarditis ORPHA:892
Infection-Related Hemolytic Uremic Syndrome
Pallor, Myocarditis 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
Non-Specific Syndromic Intellectual Disability
Pulmonary artery dilatation, Aortic root aneurysm ORPHA:528084

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 Zmiz1

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 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

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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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