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Gene: Cnn2 MGI:105093

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

calponin 2

Synonyms:

Calpo2, h2-calponin

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 Cnn2 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.

Human diseases associated with Cnn2 (0 diseases)
Human diseases predicted to be associated with Cnn2 (250 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cnn2 by phenotypic similarity.

Disease	Matching phenotypes	Source
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ...	OMIM:226990
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r...	OMIM:619802
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of...	OMIM:618986
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Immunodeficiency 15B	Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod...	OMIM:615592
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Pontocerebellar Hypoplasia, Type 14	Simplified gyral pattern, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Simplified gyral pattern, Chronic neutropenia, Anemia	OMIM:619302
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Papular Xanthoma	Histiocytosis	ORPHA:158008
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Immunodeficiency 102	Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf...	OMIM:301082
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc...	OMIM:301078
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi...	OMIM:304790
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Thrombocytopenia, Anemia, Neutropenia	ORPHA:79312
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Neutropenia, Polymicrogyria, Thrombocytopenia	OMIM:614520
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma...	OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:603909
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:47
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Autosomal Agammaglobulinemia	Agammaglobulinemia, Neutropenia	ORPHA:33110
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Familial Hemophagocytic Lymphohistiocytosis	Reduced natural killer cell activity, Splenomegaly, Decreased circulating antibody level, Anemia,...	ORPHA:540
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop...	OMIM:613989
Felty Syndrome	Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte morphology, T...	ORPHA:47612
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Mitochondrial Complex I Deficiency, Nuclear Type 33	Simplified gyral pattern, Neutropenia	OMIM:618253
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Propionic Acidemia	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:606054
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul...	OMIM:242900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Agammaglobulinemia, X-Linked	Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea...	OMIM:300755
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Sp...	OMIM:608233
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal p...	ORPHA:1830
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellularity, N...	OMIM:617303
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L...	OMIM:242840
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Neutropenia	ORPHA:1667
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Whim Syndrome	Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Methylmalonic Acidemia With Homocystinuria Type Cblf	Neutropenia, Megaloblastic anemia	ORPHA:79284
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE...	ORPHA:37042
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic...	OMIM:557000
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227646
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Adult-Onset Still Disease	Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity	ORPHA:829
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Trichothiodystrophy	Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia	ORPHA:33364
Cohen Syndrome	Neutropenia	ORPHA:193
Khan-Khan-Katsanis Syndrome	Lymphopenia, Anemia, Neutropenia	OMIM:618460
Leigh Syndrome	Anemia, Neutropenia	ORPHA:506
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Glycogen Storage Disease Ib	Splenomegaly, Neutropenia	OMIM:232220
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Anemia, Neutropenia	ORPHA:175
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Rothmund-Thomson Syndrome	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:2909
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Rothmund-Thomson Syndrome Type 1	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:221008
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In...	OMIM:260920
Pediatric-Onset Graves Disease	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia	ORPHA:525731
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Hy...	ORPHA:699
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Hermansky-Pudlak Syndrome	Neutropenia	ORPHA:79430
Rothmund-Thomson Syndrome Type 2	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:221016
Kikuchi-Fujimoto Disease	Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia	ORPHA:50918
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess	OMIM:612852
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Glycogen Storage Disease Ic	Cyclic neutropenia	OMIM:232240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia	ORPHA:79259
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Zygomycosis	Brain abscess, Splenic abscess, Neutropenia	ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level	ORPHA:99843
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Familial Mediterranean Fever	Splenomegaly, Leukocytosis, Neutrophilia	OMIM:249100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Yellow Fever	Increased circulating IgM level, Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829

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 Cnn2

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 Cnn2.

No publications found that use IMPC mice or data for Cnn2.

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
Cnn2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cnn2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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