Gene Summary

Name:
ATPase, Ca++ transporting, type 2C, member 2
Synonyms:
1810010G06Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hematocrit Atp2c2em1(IMPC)Tcp HOM Early adult 1.53×10-07
increased mean corpuscular hemoglobin Atp2c2em1(IMPC)Tcp HOM Early adult 3.91×10-05
abnormal sternum morphology Atp2c2em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Atp2c2em1(IMPC)Tcp HOM Early adult 0.00
abnormal seminal vesicle morphology Atp2c2em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

85 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Histopathology

Images

2 Images

Human diseases caused by Atp2c2 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 Atp2c2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:312500
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... OMIM:250790
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Kimura Disease
Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia ORPHA:482
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Beta-Thalassemia
Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcy... ORPHA:848
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Genital ulcers, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Cryptorchidism OMIM:184800
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Proximal femoral metaphyseal irregularity, Anterior ... OMIM:260400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Neutrophilia, Abnorm... ORPHA:54251
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomegaly, Extramedu... OMIM:612840
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Short toe, Cryptorchidism, HbH hemoglobin ORPHA:98791
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Beta-Thalassemia Intermedia
Leukocytosis, Hypoparathyroidism, Erythroid hyperplasia, Cholelithiasis, Persistence of hemoglobi... ORPHA:231222
Diamond-Blackfan Anemia 6
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Persistence of hemoglo... OMIM:612561
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Radial deviation ... OMIM:141750
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... OMIM:613179
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypochromic microcytic anemia, Bowing of the long bones, Persistence of hemog... ORPHA:231226
Beta-Thalassemia Major
Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Bowing of the long bones,... ORPHA:231214
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased proportio... ORPHA:276
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Multiple Synostoses Syndrome 1
Tarsal synostosis, Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Proximal s... OMIM:186500
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Tapered finger, R... OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Anemia, Abnormal hemoglobin, Ambiguous genitalia, Male pseudoh... ORPHA:847
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased ... ORPHA:124
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Aplastic anemia ORPHA:99867
Agammaglobulinemia, X-Linked
Epididymitis, Prostatitis, Lymph node hypoplasia OMIM:300755
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Insulinoma, Increased hematocrit, Elevated circulating g... ORPHA:100076
Lead Poisoning
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... ORPHA:330015
Craniorachischisis
Bifid sternum ORPHA:63260
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased red blood cell count, Increased mean ... ORPHA:90041
Coffin-Lowry Syndrome
Tapered finger, Bifid sternum, Narrow iliac wing, Uterine prolapse, Short metacarpal, Drumstick t... OMIM:303600

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 Atp2c2

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 Atp2c2.

No publications found that use IMPC mice or data for Atp2c2.

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MGI Allele Allele Type Produced
Atp2c2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp2c2em1(IMPC)Tcp Exon Deletion Mice, Tissue
Atp2c2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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