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Gene: Sympk MGI:1915438

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Gene Summary

Name:
symplekin
Synonyms:
4632415H16Rik,  1500016F02Rik

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
increased circulating chloride level Sympktm1a(EUCOMM)Wtsi HET Early adult 1.65×10-05
preweaning lethality, complete penetrance Sympktm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal behavior Sympktm1a(EUCOMM)Wtsi HET Early adult 2.94×10-05

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% (4 of 4)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 50% (2 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (2 of 4)
Cartilage tissue N/A heterozygote 100% (4 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (2 of 4)
Gall bladder N/A heterozygote 100% (4 of 4)
Heart N/A heterozygote 50% (2 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (4 of 4)
Large intestine N/A heterozygote 100% (4 of 4)
Liver N/A heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote 75% (3 of 4)
Lung N/A heterozygote 100% (4 of 4)
Lymph node N/A heterozygote 50% (2 of 4)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (4 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (2 of 4)
Oviduct N/A heterozygote 50% (2 of 4)
Pancreas N/A heterozygote 100% (4 of 4)
Parathyroid gland N/A heterozygote 75% (3 of 4)
Peripheral nervous system N/A heterozygote 100% (4 of 4)
Peyer's patch N/A heterozygote 25% (1 of 4)
Pituitary gland N/A heterozygote 100% (4 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 100% (4 of 4)
Skin N/A heterozygote 100% (4 of 4)
Small intestine N/A heterozygote 100% (4 of 4)
Spinal cord N/A heterozygote 100% (4 of 4)
Spleen N/A heterozygote 100% (4 of 4)
Stomach N/A heterozygote 100% (4 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 100% (4 of 4)
Thyroid gland N/A heterozygote 100% (4 of 4)
Trachea N/A heterozygote 100% (4 of 4)
Uterus N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 50% (2 of 4)
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
Sympktm1a(EUCOMM)Wtsi
body, HET, Female, WTSI
Sympktm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Sympktm1a(EUCOMM)Wtsi
head, HET, Female, WTSI
Sympktm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Sympktm1a(EUCOMM)Wtsi
body, HET, Male, WTSI

View all 90 images

Sympktm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Sympktm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Sympktm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Sympk 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 Sympk by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Splenomegaly, Hydrops fetalis, Polyhydramnios, Fetal p... OMIM:619462
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:295
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Hb Bart'S Hydrops Fetalis
Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Anemia, Hydrops fetalis ORPHA:163596
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Hydrops fetalis, Polyhydramnios, Single umbilical artery ORPHA:3405
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Thrombocytopenia, Anemia, Hydrops fetalis, Premature birth ORPHA:2123
Alpha-Thalassemia
Generalized edema, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplen... ORPHA:846
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... OMIM:616738
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Transaldolase Deficiency
Hepatosplenomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Edema ORPHA:101028
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth ORPHA:1909
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... OMIM:620014
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Splenomegaly ORPHA:2204
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Nephronophthisis
Anemia ORPHA:655
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Non... OMIM:266200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hydrops fetalis, Chylopericardium ORPHA:2414
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Increased mean corpuscular volume, Extramedullary hematopoiesis, Asci... OMIM:617021
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema OMIM:223350
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... ORPHA:1041
Congenital Enterovirus Infection
Fetal ascites, Fetal distress, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Pleural ... ORPHA:292
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Achondrogenesis, Type Ib
Polyhydramnios, Breech presentation, Hydrops fetalis, Edema OMIM:600972
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hydrops fetalis OMIM:619433
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Splenomegaly, Nonimmune hydrops fetalis OMIM:608540
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Hereditary Elliptocytosis
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... ORPHA:288
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Fetal ascites, Hydrops fetalis, Premature birth OMIM:215045
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Sialidosis Type 2
Ascites, Hydrops fetalis, Splenomegaly, Pedal edema ORPHA:87876
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Premature birth OMIM:269920
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Decreased fetal movement, Fetal akinesia s... ORPHA:85212
Congenital Heart Block
Oligohydramnios, Pleural effusion, Peripheral edema, Vaginal birth after Caesarian, Pericardial e... ORPHA:60041
Glycogen Storage Disease Iv
Ascites, Hepatosplenomegaly, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, Edema OMIM:232500
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Hydrops fetalis OMIM:618815
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis OMIM:153100
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Congenital Atransferrinemia
Anemia ORPHA:1195
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis ORPHA:69735
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis OMIM:276822
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis OMIM:237800
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Neuraminidase Deficiency
Facial edema, Ascites, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis OMIM:256550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Alg8-Cdg
Ascites, Oligohydramnios, Thrombocytopenia, Anemia, Hydrops fetalis, Edema, Premature birth ORPHA:79325
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Klippel-Trénaunay Syndrome
Microcytic anemia, Hydrops fetalis, Edema, Ascites ORPHA:90308
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Hemochromatosis, Neonatal
Oligohydramnios, Nonimmune hydrops fetalis OMIM:231100
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Nonimmune hydrops fetalis, Hypoplasia of the thymus, Impaired ... OMIM:619313
Congenital Myopathy 1B, Autosomal Recessive
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Combined Oxidative Phosphorylation Deficiency 40
Anemia, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Anemia, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis, Splenomegaly ORPHA:834
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis OMIM:619003
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Splenomegaly, Decreased fetal movement, Pericardial effusion, Hydrops ... OMIM:608776
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Splenomegaly... OMIM:616843
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:214700
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Focal Segmental Glomerulosclerosis 1
Anemia, Pleural effusion, Edema, Ascites OMIM:603278
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Mulibrey Nanism
Ascites, Hydrops fetalis OMIM:253250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Pleural effusion, Single umbilical artery, Polyhydramnios, Hydrops fetalis OMIM:616897
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:613090
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... OMIM:557000
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis OMIM:607823
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema ORPHA:584
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... OMIM:616860
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia OMIM:616649
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Gaucher Disease, Perinatal Lethal
Desquamation of skin soon after birth, Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly,... OMIM:608013
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... OMIM:235700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Galactosialidosis
Hepatosplenomegaly, Nonimmune hydrops fetalis OMIM:256540
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Ascites, Hepatosplenomegaly, Nonimmune hydrops fetalis, Fetal akinesia sequence, Polyhydramnios ORPHA:367
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency ORPHA:261344
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Farber Disease
Ascites, Hepatosplenomegaly, Joint swelling, Thrombocytopenia, Anemia, Hydrops fetalis ORPHA:333
Trisomy 13
Hydrops fetalis ORPHA:3378
Spherocytosis, Type 4
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis OMIM:612653
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Thrombocytopenia, Anemia, Hydro... ORPHA:499009
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Hypoplasia of the thymus, Oligohydramnios, Hydrops fetalis OMIM:617022
Orthostatic Hypotension 2
Anemia OMIM:618182
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Oligohydramnios, Reticulocytosis, Macrocytic anemia, Anisocyt... ORPHA:71275
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia OMIM:618398
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr... OMIM:616959
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Combined Oxidative Phosphorylation Deficiency 57
Fetal pleural effusion, Nonimmune hydrops fetalis OMIM:620167
Gm1-Gangliosidosis, Type I
Vacuolated lymphocytes, Hydrops fetalis, Splenomegaly OMIM:230500
Gm1 Gangliosidosis
Hepatosplenomegaly, Hydrops fetalis, Splenomegaly, Premature birth ORPHA:354
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Lymphatic Malformation 13
Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Single umbilical arte... OMIM:620244
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Pericardial effusion ORPHA:77261
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Hydrops fetalis, Single umbilical artery ORPHA:1865
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Cardiomyopathy, Familial Hypertrophic, 27
Nonimmune hydrops fetalis OMIM:618052
Mitochondrial Trifunctional Protein Deficiency 1
Hydrops fetalis, Abnormality of the amniotic fluid OMIM:609015
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Nonimmune hydrops fetalis OMIM:620609
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis OMIM:166210
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia OMIM:602522
Mosaic Trisomy 9
Oligohydramnios, Single umbilical artery, Polyhydramnios, Asplenia, Hydrops fetalis ORPHA:99776
Achondrogenesis, Type Ia
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, Absence of stomach bubble on feta... OMIM:200600
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... ORPHA:3261
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia OMIM:268150
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis ORPHA:88618
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema OMIM:137940
Schneckenbecken Dysplasia
Polyhydramnios, Nonimmune hydrops fetalis OMIM:269250
Fraser Syndrome 3
Ascites, Oligohydramnios, Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis OMIM:617667
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level ORPHA:89938
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Abnormal placenta morphology, Hydrops fetalis ORPHA:79255
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Greenberg Dysplasia
Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Pol... OMIM:215140
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Nonimmune hydrops... ORPHA:79277
Autoinflammatory Disease, Systemic, With Vasculitis
Periorbital edema, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thromb... OMIM:620376
Congenital Disorder Of Glycosylation, Type Ia
Nonimmune hydrops fetalis, Thrombocytosis, Pericardial effusion, Abnormality of the amniotic flui... OMIM:212065
Fibrochondrogenesis 1
Hydrops fetalis OMIM:228520
Mucopolysaccharidosis, Type Vii
Hydrops fetalis, Splenomegaly OMIM:253220
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... OMIM:241200
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema OMIM:153400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hydrops fetalis, Dehydration ORPHA:79282
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Breech presentati... OMIM:620369
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Lymphopenia, Splenomegaly, Pericardial effusion, Hydrops fetalis ORPHA:2136
Pearson Syndrome
Pancytopenia, Reticulocytosis, Splenomegaly, Corneal stromal edema, Neutropenia, Thrombocytopenia... ORPHA:699
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Thrombocytop... ORPHA:457077
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Pericardial effusion OMIM:235510
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin ORPHA:79329
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Splenomegaly, Nonimmune hydrops fetalis, Hemolytic anemia, Abnormality of ... ORPHA:95159
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Alg9-Cdg
Oligohydramnios, Decreased fetal movement, Thickened nuchal skin fold, Pericardial effusion, Hydr... ORPHA:79328
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Premature birth ORPHA:50945
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cerebral edema, Hydrops fetalis, Splenic cyst OMIM:620371
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Bilateral fetal pyelectasis, Breech presentation, Polyhydramnios, Hydrops fetalis OMIM:300868
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis OMIM:616546
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Decreased fetal movement OMIM:265000
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, An... ORPHA:355
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Splenomegaly, Polysplenia OMIM:613610
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Edema ORPHA:329971
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Hypochloremia ORPHA:90794
Fetal Akinesia Deformation Sequence 1
Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... OMIM:208150
Noonan Syndrome 2
Increased nuchal translucency, Polyhydramnios, Nonimmune hydrops fetalis, Leukemia, Acute lymphob... OMIM:605275
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hydrops fetalis OMIM:263520
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Hydrops fetalis, Bone-marrow foam cells ORPHA:646
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pleural effusion, Nonimmune hydrops fetalis, Single umbilical artery, Thickened nuchal skin fold,... OMIM:265380
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency ORPHA:3472
Generalized Arterial Calcification Of Infancy
Fetal distress, Ascites, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema ORPHA:51608
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Yunis-Varon Syndrome
Polyhydramnios, Hydrops fetalis, Premature birth OMIM:216340

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 Sympk

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 Sympk.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SYMPK Is Required for Meiosis and Involved in Alternative Splicing in Male Germ Cells. Frontiers in cell and developmental biology (August 2021) Sympktm1a(EUCOMM)Wtsi PMC8380814
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sympktm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sympktm1a(EUCOMM)Wtsi PMC6459510
Discovery of Stromal Regulatory Networks that Suppress Ras-Sensitized Epithelial Cell Proliferation. Developmental cell (May 2017) Sympktm1a(EUCOMM)Wtsi PMC5508591

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sympktm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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