Gene Summary

Name:
cell division cycle 7 (S. cerevisiae)
Synonyms:
Cdc7,  muCdc7,  Cdc7l1

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
preweaning lethality, complete penetrance Cdc7tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal skin morphology Cdc7tm1.1(KOMP)Vlcg HET Early adult 0.00
decreased neutrophil cell number Cdc7tm1.1(KOMP)Vlcg HET Early adult 1.32×10-05
embryonic lethality prior to tooth bud stage Cdc7tm1.1(KOMP)Vlcg HOM   E12.5 0.00
increased lymphocyte cell number Cdc7tm1.1(KOMP)Vlcg HET Early adult 2.56×10-06
embryonic lethality prior to organogenesis Cdc7tm1.1(KOMP)Vlcg HOM   E9.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 510)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Cdc7 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 Cdc7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 40
Lymphopenia OMIM:616433
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Whim Syndrome 1
Neutropenia OMIM:193670
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Specific Granule Deficiency 2
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Retinal Venous Beading
Neutropenia OMIM:180080
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia ORPHA:79477
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly ORPHA:79312
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia OMIM:600351
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia ORPHA:398124
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:292
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Transcobalamin Ii Deficiency
Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia OMIM:275350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, B lymphocytopenia, Neutropenia OMIM:301081
Propionic Acidemia
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:606054
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:47
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... ORPHA:158048
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Schimke Immunoosseous Dysplasia
Lymphopenia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abnormal T cell morphology OMIM:242900
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251110
Methylcobalamin Deficiency Type Cble
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Immunodeficiency 92
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... OMIM:619652
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia OMIM:613989
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia ORPHA:514
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia ORPHA:86843
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia OMIM:277380
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:540
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Absent plat... OMIM:608233
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc... OMIM:614700
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... ORPHA:811
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... ORPHA:3226
Wolcott-Rallison Syndrome
Neutropenia, Lymphocytosis, Iron deficiency anemia ORPHA:1667
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:617303
Fanconi Anemia, Complementation Group E
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:600901
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Fanconi Anemia, Complementation Group A
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227650
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Poikiloderma With Neutropenia
Leukopenia, Neutropenia, Splenomegaly OMIM:604173
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:90051
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... ORPHA:2330
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Fanconi Anemia, Complementation Group C
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227645
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia OMIM:607944
Fusariosis
Lymphopenia, Abnormality of the spleen, Brain abscess, Neutropenia, Granuloma, Lung abscess ORPHA:228119
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... ORPHA:906
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:37042
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Pancytope... OMIM:557000
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
X-Linked Lymphoproliferative Disease
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... ORPHA:2442
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibo... OMIM:615952
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia ORPHA:91547
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:277400
Whim Syndrome
Lymphopenia, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Brain abscess, Neutrophilia ORPHA:54251
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Agammaglobulinemia, X-Linked
Anemia, Neutropenia, B lymphocytopenia, T lymphocytopenia OMIM:300755
Fanconi Anemia, Complementation Group D2
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227646
Cohen Syndrome
Neutropenia ORPHA:193
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Trichothiodystrophy
Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia ORPHA:33364
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis OMIM:617099
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Acute myeloid leukemia, Neutropenia OMIM:601347
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Glycogen Storage Disease Ib
Neutropenia, Splenomegaly OMIM:232220
Rothmund-Thomson Syndrome
Anemia, Leukemia, Aplastic anemia, Neutropenia ORPHA:2909
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Splenomegaly ORPHA:829
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... OMIM:105650
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Thrombocytopenia, Neutropenia ORPHA:79282
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Kikuchi-Fujimoto Disease
Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:50918
Rothmund-Thomson Syndrome Type 1
Anemia, Leukemia, Aplastic anemia, Neutropenia ORPHA:221008
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly ORPHA:525731
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... OMIM:301074
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Rothmund-Thomson Syndrome Type 2
Anemia, Leukemia, Aplastic anemia, Neutropenia ORPHA:221016
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Pearson Syndrome
Neutropenia, Splenomegaly, Reticulocytosis, Hypoplastic spleen, Pancytopenia, Anemia, Thrombocyto... ORPHA:699
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Pancytop... ORPHA:228426
Sweet Syndrome
Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... ORPHA:3243
Zygomycosis
Splenic abscess, Brain abscess, Neutropenia ORPHA:73263
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Anemia, Chronic neutropenia, Abnormal myeloid leukocyte morphology ORPHA:79259
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Neutrophilia, Splenomegaly OMIM:612852
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Hyper-Igd Syndrome
Hepatosplenomegaly, Neutrophilia, Leukocytosis, Splenomegaly OMIM:260920
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Familial Mediterranean Fever
Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Liver Disease, Severe Congenital
Lymphocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia OMIM:619991

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 Cdc7

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 Cdc7.

No publications found that use IMPC mice or data for Cdc7.

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MGI Allele Allele Type Produced
Cdc7tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cdc7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cdc7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdc7tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Cdc7tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cdc7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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