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Gene: Zmynd8 MGI:1918025

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Gene Summary

Name:
zinc finger, MYND-type containing 8
Synonyms:
Prkcbp1,  3632413B07Rik,  2010005I16Rik,  1110013E22Rik,  ZMYND8,  RACK7

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body weight Zmynd8tm1a(EUCOMM)Wtsi HET Early adult 6.93×10-10
decreased mean corpuscular hemoglobin Zmynd8tm1a(EUCOMM)Wtsi HET   Early adult 1.94×10-06
decreased circulating magnesium level Zmynd8tm1a(EUCOMM)Wtsi HET   Early adult 1.14×10-05
thrombocytosis Zmynd8tm1a(EUCOMM)Wtsi HET Early adult 1.52×10-05
decreased mean corpuscular volume Zmynd8tm1a(EUCOMM)Wtsi HET Early adult 1.73×10-05
decreased total body fat amount Zmynd8tm1a(EUCOMM)Wtsi HET Early adult 4.56×10-07
preweaning lethality, complete penetrance Zmynd8tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (3 of 3)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote Ambiguous
Bone N/A heterozygote 100% (3 of 3)
Brain N/A heterozygote 100% (3 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 100% (3 of 3)
Cartilage tissue N/A heterozygote 100% (3 of 3)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (3 of 3)
Gall bladder N/A heterozygote 66.67% (2 of 3)
Heart N/A heterozygote 100% (3 of 3)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 66.67% (2 of 3)
Large intestine N/A heterozygote 100% (3 of 3)
Liver N/A heterozygote 100% (3 of 3)
Lower urinary tract N/A heterozygote 100% (3 of 3)
Lung N/A heterozygote 100% (3 of 3)
Lymph node N/A heterozygote 100% (3 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 100% (3 of 3)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 33.33% (1 of 3)
Oviduct N/A heterozygote 33.33% (1 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 66.67% (2 of 3)
Peripheral nervous system N/A heterozygote 100% (3 of 3)
Peyer's patch N/A heterozygote 66.67% (2 of 3)
Pituitary gland N/A heterozygote 33.33% (1 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 100% (3 of 3)
Skin N/A heterozygote 100% (3 of 3)
Small intestine N/A heterozygote 100% (3 of 3)
Spinal cord N/A heterozygote 100% (3 of 3)
Spleen N/A heterozygote 100% (3 of 3)
Stomach N/A heterozygote 100% (3 of 3)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 66.67% (2 of 3)
Thymus N/A heterozygote 100% (3 of 3)
Thyroid gland N/A heterozygote 66.67% (2 of 3)
Trachea N/A heterozygote 100% (3 of 3)
Uterus N/A heterozygote 33.33% (1 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Zmynd8tm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI
Zmynd8tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Zmynd8tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Zmynd8tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Zmynd8tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI

View all 309 images

Zmynd8tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Zmynd8tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Zmynd8tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Zmynd8 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 Zmynd8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... OMIM:618963
Thrombocythemia 2
Thrombocytosis OMIM:601977
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Thrombocythemia 3
Thrombocytosis OMIM:614521
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee ... OMIM:604416
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia OMIM:175500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Hypomagnesemia 6, Renal
Hypomagnesemia OMIM:613882
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Hypomagnesemia 2, Renal
Hypokalemia, Chondrocalcinosis, Hypomagnesemia OMIM:154020
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Thrombocytosis, E... OMIM:614034
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Autoimmune hemolytic anemia, Splen... ORPHA:37042
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia OMIM:618314
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Elevated circulating C-reactive protein concentration... OMIM:615934
Celiac Disease, Susceptibility To, 1
Failure to thrive, Hypocalcemia, Macrocytic anemia, Weight loss, Iron deficiency anemia, Enamel h... OMIM:212750
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Multiple lipomas, Chondrocalcinosis, Hypercalcemia OMIM:145981
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
East Syndrome
Hypokalemia, Increased circulating renin level, Hypomagnesemia ORPHA:199343
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Immunodeficiency 92
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... OMIM:619652
Pearson Syndrome
Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hypokalemia, Hypophosp... ORPHA:699
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas... OMIM:243150
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis ORPHA:71493
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Beta-Ketothiolase Deficiency
Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis ORPHA:134
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp... OMIM:223360
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... OMIM:301074
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Obesity, Weight loss, Transient hypophosphatemia, Hyperkale... ORPHA:79102
Gitelman Syndrome
Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Interstitial Lung And Liver Disease
Anemia, Hyperammonemia, Failure to thrive, Thrombocytosis OMIM:615486
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Iron deficiency anemia, Neutropenia, Thrombocytopenia, Increased mean ... ORPHA:494444
Poems Syndrome
Polycythemia, Splenomegaly, Lipodystrophy, Weight loss, Thrombocytosis ORPHA:2905
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Hypercalcemia OMIM:600740
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Hyperchloriduria, Failure to thrive, Increased serum prostaglandin E2, Hypomag... OMIM:601678
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Anemia ORPHA:20
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis ORPHA:729
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Increased circulating renin level, Hypokalemia, Severe failure... ORPHA:89938
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Abnormal circulating calcium concentration, Hypomagnesemia OMIM:248190
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Failure to thrive,... OMIM:222470
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... ORPHA:324636
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distrib... OMIM:212065
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gitelman Syndrome
Hypermagnesemia, Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia,... ORPHA:358
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Abnormal circulating neopter... ORPHA:1578
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Chondrocalcinosis, Failure to thrive, Increased serum prostaglandin E2, Hypomag... OMIM:241200
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Failure to thrive, Hypomagnesemia, Failure to thri... OMIM:219800
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:612780
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Rh-Null, Amorph Type
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia OMIM:617970
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated c... OMIM:615688
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Leukocytosis, Failure to thrive, Thrombocytosis OMIM:618213
Hypomagnesemia 3, Renal
Hyperphosphatemia, Failure to thrive, Increased circulating beta-C-terminal telopeptide concentra... OMIM:248250
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Syndromic Diarrhea
Lymphopenia, Inguinal hernia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality... ORPHA:84064
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Lipoma, Hypocalcemic seizures, Hyperc... ORPHA:405
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Hypomethio... ORPHA:2169
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Cogan Syndrome
Anemia, Leukocytosis, Thrombocytosis ORPHA:1467
Elliptocytosis 2
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... OMIM:300835
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:612653
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Idiopathic Hypereosinophilic Syndrome
Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ... ORPHA:3260
Brucellosis
Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Weight loss, Elevated c... ORPHA:1304
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age OMIM:616943
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypomagnesemia, Elbow flexion contracture, Hepatosplenomegaly, Hemolytic anemi... OMIM:619503
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive ORPHA:98791
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Persistence of hemoglobin F, Umbilical hernia OMIM:619769
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Failure to... ORPHA:811
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia... OMIM:260400
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Leukocytosis, Thrombocytosis ORPHA:2331
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia ORPHA:99867
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lead Poisoning
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... ORPHA:330015
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Polycythemia, Impaired platelet aggregation, Leukocytosis, ... ORPHA:2968
Doors Syndrome
Thrombocytosis ORPHA:79500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56

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 Zmynd8

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 Zmynd8.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Zmynd8tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Zmynd8tm1a(EUCOMM)Wtsi PMC6459510
The Chromatin Reader ZMYND8 Regulates Igh Enhancers to Promote Immunoglobulin Class Switch Recombination. Molecular cell (October 2018) Zmynd8tm1a(EUCOMM)Wtsi PMC6242708

Order Mouse and ES Cells

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
Zmynd8tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Zmynd8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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