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Gene: Slc12a4 MGI:1309465

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 12, member 4
Synonyms:
K-Cl Co-transporter-1,  KCC1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc12a4 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 Slc12a4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Atransferrinemia
Hypochromic anemia OMIM:209300
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia OMIM:300752
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Anemia, Congenital Dyserythropoietic, Type Iv
Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia OMIM:257790
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Hypochromic microcytic anemia, Sideroblastic anemia OMIM:301310
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
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
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... OMIM:617780
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Nephronophthisis
Anemia ORPHA:655
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia OMIM:245900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocy... OMIM:235700
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Splenomegaly OMIM:616278
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Refractory Celiac Disease
Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Increased proportion of HLA DR+ T c... ORPHA:398063
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... OMIM:619632
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly OMIM:618852
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia ORPHA:54028
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... OMIM:601775
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia OMIM:604416
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia ORPHA:89937
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Acquired Von Willebrand Syndrome
Refractory anemia, Normocytic anemia, Hypochromic anemia ORPHA:99147
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level OMIM:226300
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Glycogen Storage Disease Xii
Normochromic anemia, Normocytic anemia, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:611881
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia OMIM:615578
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute myeloid leukem... ORPHA:86839
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatosplenomegaly ORPHA:99931
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Splenomegaly, Anemia, Anemia of inadequate production OMIM:612714
Hamamy Syndrome
Microcytic anemia, Hypochromic anemia OMIM:611174
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Autosomal Erythropoietic Protoporphyria
Microcytic anemia ORPHA:79278
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Anemia OMIM:615438
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Anemia, Thrombocytopenia, Leukopenia ORPHA:27
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Hypochromic microcytic anemia, Splenomegaly ORPHA:77297
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia OMIM:249270
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Combined Oxidative Phosphorylation Deficiency 53
Hypochromic microcytic anemia OMIM:619423
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Hypochromic microcytic anemia OMIM:619147
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Abnormal erythrocyte morphology, Megaloblastic anemia, Folate-unresponsive megaloblastic anemia ORPHA:2575
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Ménétrier Disease
Hypochromic microcytic anemia ORPHA:2494
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
Pancreatic Colipase Deficiency
Megaloblastic anemia ORPHA:309108
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia OMIM:236270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia OMIM:613561
Isolated Sedoheptulokinase Deficiency
Anemia, Hypochromic microcytic anemia ORPHA:440713
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Normochromic microcytic anemia ORPHA:66634
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia OMIM:618805
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Splenomegaly, Chronic hemolytic anemia, Hemolytic anemia OMIM:615512
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia OMIM:618885
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Spleno... ORPHA:37042
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Asplenia OMIM:269200
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia OMIM:614294
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia OMIM:612379
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly OMIM:619046
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia OMIM:619013
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Aceruloplasminemia
Refractory anemia, Hypochromic microcytic anemia ORPHA:48818
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Granulocytopenia OMIM:606164
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Acatalasemia
Microcytic anemia ORPHA:926
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Wolfram Syndrome 1
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia OMIM:222300
Peutz-Jeghers Syndrome
Iron deficiency anemia OMIM:175200
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia OMIM:610198
Pulmonary Arteriovenous Malformation
Iron deficiency anemia ORPHA:2038
Srd5A3-Cdg
Microcytic anemia ORPHA:324737
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia OMIM:255125
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Diamond-Blackfan Anemia 10
Macrocytic anemia, Anemia, Reticulocytopenia OMIM:613309
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia ORPHA:309031
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia ORPHA:100075
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Niemann-Pick Disease, Type A
Microcytic anemia, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:257200
Klippel-Trénaunay Syndrome
Microcytic anemia ORPHA:90308
Ileal Neuroendocrine Tumor
Iron deficiency anemia ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia ORPHA:100077
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia ORPHA:93315
Monosomy 22
Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia ORPHA:96123
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Degcags Syndrome
Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Anemia, Abnormal spleen morpho... OMIM:619488
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia ORPHA:98673
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia ORPHA:261584
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277380
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly... OMIM:610377
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Kearns-Sayre Syndrome
Sideroblastic anemia OMIM:530000
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia OMIM:557000
Immunodeficiency 47
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... OMIM:300972
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Gitelman Syndrome
Iron deficiency anemia ORPHA:358
Somatostatinoma
Hypochromic microcytic anemia ORPHA:97283
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Normocytic anemia ORPHA:247691
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... ORPHA:227990
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Waldenström Macroglobulinemia
Normocytic anemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Abnormality o... ORPHA:33226
Ichthyosis And Male Hypogonadism
Hyperchromic macrocytic anemia OMIM:308200
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia ORPHA:293967
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia ORPHA:2959
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Iron deficiency anemia, Anemia ORPHA:79408
Non-Functioning Pituitary Adenoma
Anemia of inadequate production ORPHA:91349
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... ORPHA:227982
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Eosinophilia, Normocytic anemia ORPHA:199299
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Arthrogryposis Multiplex Congenita 5
Acanthocytosis, Poikilocytosis, Normocytic anemia OMIM:618947
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Abnormal isohemagglutinin level, Anemia, Neutrophilia, Microcytic anemia ORPHA:99843
H Syndrome
Hepatosplenomegaly, Microcytic anemia, Histiocytosis ORPHA:168569
Lesch-Nyhan Syndrome
Megaloblastic anemia OMIM:300322
Adenohypophysitis
Normochromic anemia ORPHA:95512
Pituitary Apoplexy
Normochromic anemia ORPHA:95613
Panhypophysitis
Normochromic anemia ORPHA:95513
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia ORPHA:79351
Sheehan Syndrome
Normochromic anemia ORPHA:91355
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased circulating antibody level, Increas... ORPHA:289390
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Hereditary Hemorrhagic Telangiectasia
Microcytic anemia ORPHA:774
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia ORPHA:49041
Acute Adrenal Insufficiency
Normocytic anemia ORPHA:95409
Glucagonoma
Acanthocytosis, Normochromic anemia ORPHA:97280
Addison Disease
Thiamine-responsive megaloblastic anemia, Normocytic anemia ORPHA:85138
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Megaloblastic anemia, Neutropenia ORPHA:79282
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Increased circula... OMIM:256040
Vipoma
Normochromic anemia ORPHA:97282
Congenital Disorder Of Glycosylation, Type Iiw
Thrombocytopenia, Microcytic anemia, Anemia, Splenomegaly OMIM:619525
Fanconi Anemia
Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia, Leukopenia ORPHA:84
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... ORPHA:91500
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Megaloblastic anemia OMIM:219721
Aarskog Syndrome, Autosomal Dominant
Macrocytic anemia OMIM:100050

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 Slc12a4

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 Slc12a4.

No publications found that use IMPC mice or data for Slc12a4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc12a4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc12a4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Slc12a4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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