Gene Summary

Name:
cyclin T1
Synonyms:
2810478G24Rik,  CycT1

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
increased mean corpuscular hemoglobin Ccnt1em1(IMPC)J HOM Early adult 1.68×10-09
increased startle reflex Ccnt1em1(IMPC)J HOM Early adult 1.02×10-07
persistence of hyaloid vascular system Ccnt1em1(IMPC)J HOM Early adult 3.50×10-07
increased mean corpuscular volume Ccnt1em1(IMPC)J HOM Early adult 5.79×10-07
decreased exploration in new environment Ccnt1em1(IMPC)J HOM Early adult 5.56×10-05
decreased erythrocyte cell number Ccnt1em1(IMPC)J HOM Early adult 5.72×10-06
increased circulating alkaline phosphatase level Ccnt1em1(IMPC)J HOM Early adult 1.29×10-17
increased leukocyte cell number Ccnt1em1(IMPC)J HET Early adult 4.64×10-13
increased leukocyte cell number Ccnt1em1(IMPC)J HOM Early adult 3.44×10-08
decreased circulating total protein level Ccnt1em1(IMPC)J HOM Early adult 1.98×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Electrocardiogram (ECG)

Waveform Image

29 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

12 Images

Human diseases caused by Ccnt1 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 Ccnt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hypochromia, Po... OMIM:615234
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Citrullinemia Type Ii
Hypoalbuminemia, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hyperlipi... ORPHA:247585
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Beta-cell dysfunction OMIM:612227
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia OMIM:226300
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Peripheral retinal atrophy, Leukopenia, Elliptocytosis,... OMIM:616959
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Eosinophilopenia
Allergic rhinitis, Autoimmunity OMIM:131430
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... ORPHA:444463
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote... OMIM:615895
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Sjogren Syndrome
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... OMIM:270150
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... ORPHA:90280
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Autoimmunity, Colitis, Decreased specific pneumococcal antibod... OMIM:617006
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia ORPHA:2315
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor OMIM:608093
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Thrombocytopenia, Anemia, Abn... ORPHA:848
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen... ORPHA:811
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Splenomegaly, Hypocalcemia OMIM:235255
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... ORPHA:163525
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Lack of T cell function, Rec... ORPHA:277
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, An... OMIM:619375
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypocalcemia ORPHA:1655
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Optic nerve hypoplasia ORPHA:261250
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Impaired T cell function, Recurre... OMIM:240500
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis ORPHA:163703
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Irritability, Po... OMIM:618278
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity ORPHA:46488
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Autoimmunity, Mala... ORPHA:79480
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho... OMIM:152700
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Papilledema, Elevated circulating C-reactive prot... OMIM:607115
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Short attention spa... OMIM:619991
Bullous Pemphigoid
Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant... ORPHA:703
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... OMIM:609049
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Autoimmunity, Decreased circulati... ORPHA:275
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Lymphocytic intersti... OMIM:618495
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Autoimmunity, Interstitial pneumonitis,... OMIM:615952
Stiff-Person Syndrome
Anemia, Opisthotonus, Depression, Exaggerated startle response OMIM:184850
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Bronchiolitis Obliterans
Pneumonia, Autoimmunity, Bronchiectasis ORPHA:1303
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory ab... ORPHA:229717
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Autoimmunity, Decreased circulating antibody level, Chronic si... ORPHA:397596
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Confusion, Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:83601
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hype... OMIM:613280
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Castleman Disease
Anemia, Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration,... ORPHA:160
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Intestinal obstr... ORPHA:449400
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentratio... ORPHA:2070
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Adiposis Dolorosa
Diarrhea, Xerostomia, Autoimmunity, Hypothyroidism, Constipation, Arthritis, Recurrent skin infec... ORPHA:36397
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, Anterior uveitis ORPHA:85414
Igg4-Related Thyroid Disease
Graves disease, Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimm... ORPHA:64744
Mixed-Type Autoimmune Hemolytic Anemia
Skin rash, Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus ORPHA:90036
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:91354
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinemia, Lack ... ORPHA:572
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Irrita... ORPHA:292
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Chronic mucocutaneous candidiasis, Primary adrenal insuffic... ORPHA:3453
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Autoimmunity ORPHA:98827
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Autoimmune ... ORPHA:331235
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Autoimmunity, Anti-smooth muscle antibody positivi... ORPHA:228426
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Autoimmunity, Septic arthritis, Decreased c... OMIM:617780
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Autoimmunity, Knee osteoarthritis, Antinuclear antibody positivity, Oligoar... ORPHA:85410
Alopecia Totalis
Inflammation of the large intestine, Autoimmunity ORPHA:700
Immunodeficiency 7
Diarrhea, Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Chronic oral candidi... OMIM:615387
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,... ORPHA:97214
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Agammaglobulinemia, Arthr... ORPHA:47
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Juvenile Polyposis Syndrome
Anemia, Brain abscess, Hypoproteinemia ORPHA:2929
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Graves disease, Hepatitis, Autoimmunity, Au... ORPHA:227982
Acquired Methemoglobinemia
Confusion, Methemoglobinemia ORPHA:464453
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation OMIM:618042
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Lead Poisoning
Depression, Memory impairment, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concent... ORPHA:330015
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Diarrhea, Protracted diarrhea, Decrea... OMIM:615758
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentra... ORPHA:457077
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Cognitive impairment, Exaggerated startle response ORPHA:309246
Microscopic Polyangiitis
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Autoimmunity, Episcleritis, Skin rash, Increased ... ORPHA:727
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Rheumatoid arthritis, Xerostomia, Hepatitis, Autoimmunity, Decreased circulat... ORPHA:227990
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity, Anti-desmoglein-3 antibody positivity, Anti-... ORPHA:704
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T... OMIM:608643
Alopecia Universalis
Atopic dermatitis, Autoimmunity, Psoriasiform dermatitis ORPHA:701
Tay-Sachs Disease
Optic atrophy, Increased serum beta-hexosaminidase, Memory impairment, Depression, Laryngeal dyst... ORPHA:845
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Lymphadenitis, Protracted diarrhea, Decreased circulating IgA le... ORPHA:331206
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Systemic lupus erythematosus, Decreased response to growth hormone stimulat... ORPHA:1855
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt... ORPHA:100026
Antisynthetase Syndrome
Xerostomia, Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis... ORPHA:81
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia OMIM:614204
Leptospirosis
Retinal hemorrhage, Hyperproteinemia, Papilledema, Thrombocytopenia ORPHA:509
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Exaggerated startle response, Irritability OMIM:616881
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Atelis Syndrome 2
Anemia, Attention deficit hyperactivity disorder, Thrombocytopenia, Remnants of the hyaloid vascu... OMIM:620185
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Irritability, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernat... OMIM:620423
Pgm3-Cdg
Allergic rhinitis, Increased circulating IgE level, Esophagitis, Increased circulating IgA level,... ORPHA:443811
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Short attention span, Exaggerated startle response, Irritability OMIM:617864
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... ORPHA:3261
Nodular Non-Suppurative Panniculitis
Inflammatory abnormality of the eye, Autoimmunity, Panniculitis ORPHA:33577
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Eczematoid dermatitis, Autoimmunity, Hypothyroidism, Atypical or prolonged h... ORPHA:83471
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Sacroiliac arthritis, Autoimmunity, Psoriasiform dermatitis, Malar rash, Skin rash, Anti... ORPHA:85436
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Microphthalmia/Coloboma 12
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Retinal detachment, Remnants of the hyaloid v... OMIM:614643
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Optic atrophy, Depression, Abnormal hemoglobin ORPHA:847
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Elevated circulating creatine kinase concentration, Retinal detachment, Exaggerate... OMIM:253800
Pemphigus Foliaceus
Autoimmunity, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma ORPHA:79481
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gm2-Gangliosidosis, Ab Variant
Dementia, Dystonia, Exaggerated startle response OMIM:272750
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Asparagine Synthetase Deficiency
Hypoasparaginemia, Tremor, Irritability, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Short attention span, Exaggerated startle response ORPHA:438216
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Optic atrophy, Hyperalaninemia, Exaggerated startle response OMIM:620451
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody p... ORPHA:79078
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Igg4-Related Submandibular Gland Disease
Xerostomia, Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Incr... ORPHA:449432
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Cognitive impairment, Exaggerated startle response OMIM:617527
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Full Nf2-Related Schwannomatosis
Memory impairment, Remnants of the hyaloid vascular system ORPHA:637
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Exaggerated startle response, Anemia, Optic disc pallor... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Irritability OMIM:618367
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Neuroocular Syndrome 1
Attention deficit hyperactivity disorder, Iris coloboma, Remnants of the hyaloid vascular system,... OMIM:619539
Microphthalmia, Syndromic 2
Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Norrie Disease
Optic atrophy, Irritability, Attention deficit hyperactivity disorder, Retinal detachment, Remnan... ORPHA:649
Holoprosencephaly 2
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522

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 Ccnt1

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 Ccnt1.

No publications found that use IMPC mice or data for Ccnt1.

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
Ccnt1em1(IMPC)J Exon Deletion Mice
Ccnt1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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