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Gene: Cnn2 MGI:105093

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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:
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.

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 Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia OMIM:615214
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... ORPHA:859
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Absent circulating B cells, Agammaglob... OMIM:613501
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613502
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxida... OMIM:226990
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... OMIM:618986
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... OMIM:615285
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... OMIM:614470
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count, Agammaglobulinemia, Decreased circulating antibod... OMIM:615592
Whim Syndrome 1
Decreased circulating antibody level, Neutropenia, Decreased circulating IgG level OMIM:193670
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... ORPHA:98826
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt... OMIM:308240
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Pontocerebellar Hypoplasia, Type 14
Simplified gyral pattern, Chronic neutropenia, Thrombocytopenia OMIM:619301
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia OMIM:610738
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:603552
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, B lymphocytopenia, Absent circulating B cells, Agammaglobulinemi... OMIM:619705
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia OMIM:229050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Increased circulating antibody level, Lymphocytosis, Decreased proportion of C... ORPHA:169154
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Papular Xanthoma
Histiocytosis ORPHA:158008
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... OMIM:150550
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc... OMIM:301082
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th... OMIM:301078
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... OMIM:301081
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... OMIM:601859
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Hemochromatosis, Type 3
Anemia, Neutropenia, Lymphopenia OMIM:604250
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Diamond-Blackfan Anemia 11
Anemia, Anemia of inadequate production, Neutropenia, Bone marrow hypocellularity OMIM:614900
Immunodeficiency With Hyper-Igm, Type 1
Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Decreased circulat... OMIM:308230
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Decreased... OMIM:275350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... ORPHA:572
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Griscelli Syndrome Type 2
Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia ORPHA:79477
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly OMIM:615387
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... ORPHA:98850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Specific Granule Deficiency 2
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia OMIM:617475
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R... OMIM:601495
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... OMIM:304790
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia ORPHA:79312
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Polymicrogyria OMIM:614520
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:603909
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Agammaglobulinemia, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Immunodeficiency 108 With Autoinflammation
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... ORPHA:35858
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
X-Linked Agammaglobulinemia
Anemia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Thrombocytopenia, Neutropenia ORPHA:47
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Reduced natural killer cell activity, Decreased circulating antibody level, Hemophagocyto... ORPHA:540
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Letterer-Siwe Disease
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly OMIM:246400
Chediak-Higashi Syndrome
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... OMIM:214500
Immunodeficiency 23
Hemolytic anemia, Increased circulating IgG level, Lymphopenia, Increased circulating IgM level, ... OMIM:615816
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... ORPHA:158061
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Neutrop... OMIM:613989
Felty Syndrome
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lympho... ORPHA:47612
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... OMIM:614700
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:292
Neonatal Lupus Erythematosus
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly ORPHA:398124
Mitochondrial Complex I Deficiency, Nuclear Type 33
Simplified gyral pattern, Neutropenia OMIM:618253
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Monocytosis, Thrombocytopenia OMIM:619644
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Normochromic anemia OMIM:614857
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Schimke Immunoosseous Dysplasia
Anemia, Abnormal T cell morphology, Decreased circulating antibody level, Lymphopenia, Pancytopen... OMIM:242900
Cyclic Neutropenia
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... ORPHA:2686
Propionic Acidemia
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia OMIM:606054
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:520
Barth Syndrome
Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia OMIM:302060
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr... ORPHA:1959
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... ORPHA:508542
Aspergillosis
Neutropenia, Increased circulating IgE level, Eosinophilia ORPHA:1163
3-Methylglutaconic Aciduria Type 7
Neutropenia, Infection associated neutropenia, Bone marrow hypocellularity ORPHA:445038
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproliferative disorder... ORPHA:3226
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia ORPHA:2169
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level, Neutropenia in presence of anti-neutropil antibodies, Autoi... OMIM:615952
Schimke Immuno-Osseous Dysplasia
Anemia, Lymphopenia, Impaired T cell function, Bone marrow hypocellularity, Decreased proportion ... ORPHA:1830
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... ORPHA:158048
Methylmalonic Aciduria, Cblb Type
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia OMIM:251110
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopeni... OMIM:617303
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... ORPHA:811
Necrotizing Enterocolitis
Thrombocytopenia, Neutropenia, Leukocytosis ORPHA:391673
Fanconi Anemia, Complementation Group I
Neutropenia, Bone marrow hypocellularity OMIM:609053
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Abnormality of B cel... OMIM:613179
Methylmalonic Aciduria, Cbla Type
Anemia, Thrombocytopenia, Neutropenia, Pancytopenia OMIM:251100
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:600901
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropen... OMIM:227645
Chédiak-Higashi Syndrome
Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Hemophagocytos... ORPHA:167
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Vici Syndrome
Leukopenia, Gray matter heterotopia, T lymphocytopenia, Decreased T cell activation, Decreased ci... OMIM:242840
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Cartilage-Hair Hypoplasia
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... OMIM:250250
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:277380
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia OMIM:227650
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... ORPHA:2330
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Poikiloderma With Neutropenia
Leukopenia, Neutropenia, Splenomegaly OMIM:604173
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Whim Syndrome
Neutropenia, Lymphopenia, Abnormality of neutrophil morphology, Decreased circulating antibody level ORPHA:51636
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec... ORPHA:3261
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Liver abscess ORPHA:54251
Sepsis In Premature Infants
Anemia, Leukocytosis, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:90051
Fusariosis
Brain abscess, Granuloma, Lung abscess, Lymphopenia, Abnormality of the spleen, Neutropenia ORPHA:228119
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Increased circ... ORPHA:37042
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... ORPHA:906
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Pearson Marrow-Pancreas Syndrome
Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T... OMIM:557000
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropen... OMIM:227646
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:607944
Adult-Onset Still Disease
Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Leukocytosis ORPHA:829
Relapsing Fever
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia ORPHA:91547
Selective Igm Deficiency
Decreased circulating total IgM, Neutropenia in presence of anti-neutropil antibodies, Decreased ... ORPHA:331235
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Aplas... ORPHA:2442
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277400
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia, Decreased circulating IgG level OMIM:271510
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia, Panhypogammaglobulinemia ORPHA:33364
Cohen Syndrome
Neutropenia ORPHA:193
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Glycogen Storage Disease Ib
Neutropenia, Splenomegaly OMIM:232220
Cartilage-Hair Hypoplasia
Anemia, Neutropenia, Decreased circulating antibody level ORPHA:175
Khan-Khan-Katsanis Syndrome
Anemia, Neutropenia, Lymphopenia OMIM:618460
Toxic Epidermal Necrolysis
Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Rothmund-Thomson Syndrome
Aplastic anemia, Neutropenia, Leukemia, Anemia ORPHA:2909
Diamond-Blackfan Anemia 1
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... OMIM:105650
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Neutropenia, Leukemia, Anemia ORPHA:221008
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Increased circulating IgA leve... OMIM:260920
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly ORPHA:525731
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Pearson Syndrome
Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Hypoplastic... ORPHA:699
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Thrombocytopenia, Neutropenia, Megaloblastic anemia ORPHA:79282
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Neutropenia, Leukemia, Anemia ORPHA:221016
Kikuchi-Fujimoto Disease
Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:50918
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Abscess OMIM:612852
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytopenia, Hepatosplenome... ORPHA:228426
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Leukoc... ORPHA:3243
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Zygomycosis
Brain abscess, Neutropenia, Splenic abscess ORPHA:73263
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Anemia, Abnormal myeloid leukocyte morphology ORPHA:79259
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... ORPHA:391487
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
Glycogen Storage Disease Ic
Cyclic neutropenia OMIM:232240
Leukocyte Adhesion Deficiency Type Ii
Anemia, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Microcytic anemia ORPHA:99843
Sponastrime Dysplasia
Neutropenia, Decreased circulating antibody level ORPHA:93357
Aspartylglucosaminuria
Neutropenia, Vacuolated lymphocytes OMIM:208400
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Leukocytosis OMIM:249100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Yellow Fever
Thrombocytopenia, Neutrophilia, Increased circulating IgM level, Leukocytosis 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

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MGI Allele Allele Type Produced
Cnn2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cnn2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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