Gene Summary

Name:
zinc finger protein 219
Synonyms:
2010302A17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating glucose level Zfp219em1(IMPC)J HOM   Early adult 5.00×10-06
increased urine glucose level Zfp219em1(IMPC)J HOM Early adult 6.32×10-10
thrombocytosis Zfp219tm1b(EUCOMM)Hmgu HET Early adult 5.12×10-06

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

12 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electroretinography 2

Rod and cone PDF

4 Images

Legacy Phenotype Associated Images

View all 20 images

Human diseases caused by Zfp219 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 Zfp219 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocythemia 2
Thrombocytosis OMIM:601977
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Thrombocythemia 3
Thrombocytosis OMIM:614521
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Cataract 47
Glycosuria OMIM:612018
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Renal Glucosuria
Enuresis nocturna, Glycosuria, Polyuria OMIM:233100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria OMIM:618857
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia, Nephrolithiasis OMIM:222730
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Ketonuria, Glycosuria ORPHA:2089
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia OMIM:615605
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glucose/Galactose Malabsorption
Abnormal oral glucose tolerance, Glycosuria OMIM:606824
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Proteinuria, Diabet... OMIM:616026
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid OMIM:206400
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis OMIM:618913
Mody
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance,... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Porphyrinuria OMIM:176200
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Glycosuria,... ORPHA:2088
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Proteinuria, Renal Fanconi syndrome, Hype... ORPHA:263455
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Ketonuria OMIM:616095
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis OMIM:604416
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... OMIM:227810
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria OMIM:613404
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... OMIM:231680
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... ORPHA:35878
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid OMIM:612740
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin... OMIM:121300
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Nephritis, Glycosuria, Insulin-resistant diabetes... ORPHA:2298
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... ORPHA:436271
Orthostatic Hypotension 2
Decreased glomerular filtration rate, Hypoglycemia OMIM:618182
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, Gl... OMIM:137920
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Uric a... ORPHA:411536
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... OMIM:220110
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... ORPHA:411634
Seckel Syndrome 10
Insulin resistance, Glycosuria, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:617253
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis OMIM:614034
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis OMIM:300323
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Hyperphosphaturia, Hyper... OMIM:229600
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Hyperg... ORPHA:99885
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia ORPHA:664
Hereditary Renal Hypouricemia
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... ORPHA:94088
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Propionic Acidemia
Organic aciduria, Hypoglycemia ORPHA:35
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hypoglycemia ORPHA:6
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary... OMIM:219800
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Thrombocytosis OMIM:226300
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Lymphopenia, Leukopenia, Thrombocytosis OMIM:615934
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... OMIM:243150
Hereditary Coproporphyria
Nephropathy, Dark urine, Increased urinary porphobilinogen, Porphyrinuria, Elevated urinary delta... ORPHA:79273
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glucose intolerance, Glycosuria, Renal tubular dysfunction OMIM:616539
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Riboflavin Deficiency
Hypoglycemia, Dicarboxylic aciduria OMIM:615026
Myasthenia Gravis
Glycosuria ORPHA:589
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg... OMIM:262190
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... ORPHA:324636
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Familial Thrombocytosis
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis ORPHA:71493
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis ORPHA:729
Wilson Disease
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... OMIM:277900
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis ORPHA:134
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
3-Hydroxy-3-Methylglutaric Aciduria
Anemia, Leukopenia, Leukocytosis, Thrombocytosis ORPHA:20
Molybdenum Cofactor Deficiency, Type A
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Decreas... OMIM:252150
Poems Syndrome
Splenomegaly, Polycythemia, Thrombocytosis ORPHA:2905
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Hypoglycemia OMIM:201910
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Crystalluria ORPHA:411543
Cogan Syndrome
Anemia, Leukocytosis, Thrombocytosis ORPHA:1467
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... OMIM:301074
Pearson Syndrome
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria, Diabetes mellitus ORPHA:699
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis OMIM:212065
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Thrombocyt... OMIM:615688
Scorpion Envenomation
Hyperglycemia, Acute kidney injury, Ketonuria, Glycosuria ORPHA:466677
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Atypical Werner Syndrome
Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperglycemia, Hyperin... ORPHA:79474
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Ureteral duplication, Diabetes mellitus, Glycosuria OMIM:600001
Trichohepatoenteric Syndrome 1
Thrombocytosis, Splenomegaly, Increased mean platelet volume OMIM:222470
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Thrombocytosis OMIM:618213
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Increased mean platelet volume ORPHA:84064
Porphyria, Acute Intermittent
Urinary incontinence, Elevated urinary delta-aminolevulinic acid, Dysuria, Urinary retention OMIM:176000
Porphyria Variegata
Chronic kidney disease, Increased urinary porphobilinogen, Porphyrinuria, Neurogenic bladder, Ele... ORPHA:79473
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Sterile pyuria, Renal magnesium wasting... OMIM:248250
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu... ORPHA:79276
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... OMIM:615751
Brucellosis
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia ORPHA:1304
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Hypoglycemia, Renal insufficiency, Rena... OMIM:276700
Molybdenum Cofactor Deficiency, Type B
Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine level, Xanthin... OMIM:252160
Kawasaki Disease
Leukocytosis, Thrombocytosis ORPHA:2331
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Decreased urinary urate, Elevated urinary guanosine level, Recurr... OMIM:613179
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In... ORPHA:89938
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Hyperprost... ORPHA:73224
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, Leukocytosis, Impaired neutro... ORPHA:2968
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level OMIM:167100
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Doors Syndrome
Thrombocytosis ORPHA:79500
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate ORPHA:760
Lesch-Nyhan Syndrome
Hyperuricosuria, Nephrocalcinosis, Nephrolithiasis OMIM:300322
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias OMIM:300661

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 Zfp219

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 Zfp219.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Zfp219tm1b(EUCOMM)Hmgu PMC7263671

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MGI Allele Allele Type Produced
Zfp219em1(IMPC)J Indel Mice
Zfp219tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Zfp219tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Zfp219tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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