Gene Summary

Name:
coronin, actin binding protein 1C
Synonyms:
coronin 3,  CRN2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Coro1ctm1a(KOMP)Wtsi HET   Early adult 4.97×10-05
increased erythrocyte cell number Coro1ctm1a(KOMP)Wtsi HET   Early adult 9.33×10-06

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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 Skull Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

View all 165 images

Human diseases caused by Coro1c 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 Coro1c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Thrombocythemia 2
Thrombocytosis OMIM:601977
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... OMIM:617780
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... OMIM:604416
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I... OMIM:614034
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Autosomal Recessive Spastic Paraplegia Type 44
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... ORPHA:320401
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:824
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis OMIM:616649
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:612653
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Abcd Syndrome
Polycythemia OMIM:600501
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Ataxia, Leukocytosis, Hyperammonemia, Hypsarrhythmia, Leukopenia, 3-Methylglutaric aci... ORPHA:20
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Ataxia, Tremor, Renal cyst, Dysmetria, Nephrotic syndrome, Proximal tubulopathy, Hyp... OMIM:212065
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... ORPHA:52368
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:182900
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis ORPHA:134
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A... OMIM:615934
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... ORPHA:494444
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... ORPHA:124
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Iron deficiency anemia, Hypocalcemia, Thrombocytosis OMIM:212750
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Trichohepatoenteric Syndrome 1
Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia,... OMIM:222470
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Hematuria, Thrombocytosis, Impaired... ORPHA:324636
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... OMIM:615688
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Hyperammonemia, Aminoaciduria, Thrombocytosis, Anemia OMIM:615486
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Cogan Syndrome
Leukocytosis, Sensorineural hearing impairment, Thrombocytosis, Tinnitus, Anemia ORPHA:1467
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Sensorineural hearing impairmen... ORPHA:182050
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Livedoid Vasculopathy
Leukocytosis, Pancytopenia, Polycythemia, Anemia ORPHA:542643
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... ORPHA:99027
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr... OMIM:301074
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Poems Syndrome
Thrombocytosis, Papilledema, Polycythemia ORPHA:2905
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia, Decreased nerv... ORPHA:101085
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the thymus, Abnorma... ORPHA:84064
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Hypsarrhythmia, Hypochromic anemia OMIM:618213
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Abnormal pla... OMIM:273800
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... OMIM:105650
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Brucellosis
Glomerulonephritis, Elevated circulating C-reactive protein concentration, Abnormality of the per... ORPHA:1304
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Ataxia, Proteinuria, Tremor, Optic atro... ORPHA:90321
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Harderoporphyria
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Fumarase Deficiency
Polycythemia OMIM:606812
Von Hippel-Lindau Syndrome
Polycythemia OMIM:193300
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Polycythemia ORPHA:309854
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Urinary incontinence, E... ORPHA:206448
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking ORPHA:320406
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Hearing impairment OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive
Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears OMIM:618598
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Ogden Syndrome
Iron deficiency anemia, Polycythemia, Thrombocytopenia OMIM:300855
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Macrotia, EEG with gener... OMIM:617864
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis OMIM:232800
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Opt... ORPHA:845
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Optic atrophy, Nephrocalcinosis, EEG abnormali... ORPHA:79500
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Ataxia, Urinary incontinence, Hepatospleno... OMIM:268800
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Glomerulonephritis, Hemolytic-uremic syndrome, Leukocytosis, Abnormality ... ORPHA:2968
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Von Hippel-Lindau Disease
Polycythemia ORPHA:892
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Dystonia ORPHA:438216
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hydronephrosis, Hearing impairment OMIM:620327
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Ataxia, Abnormal auditory evoked potentials, Abnormal pinna mor... OMIM:216400
Cerebrotendinous Xanthomatosis
Optic disc pallor, Resting tremor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy,... ORPHA:909
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Beckwith-Wiedemann Syndrome
Splenomegaly, Polycythemia ORPHA:116
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Low-set ea... ORPHA:79255
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Cockayne Syndrome B
Renal insufficiency, Proteinuria, Ataxia, Abnormal auditory evoked potentials, Abnormal pinna mor... OMIM:133540
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Lathosterolosis
Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Horseshoe kidney, Thrombo... ORPHA:46059
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Partial development of the penile shaft OMIM:608800
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Telangiectasia, Hereditary Hemorrhagic, Type 2
Polycythemia, Anemia OMIM:600376
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:253800
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Telangiectasia, Hereditary Hemorrhagic, Type 1
Polycythemia, Anemia OMIM:187300
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... ORPHA:401973
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Broad-based gait, Exaggerated startle response, Decreased serum iron, Inabilit... ORPHA:438213
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Small earlobe, Hypospadias, Urinary incontinenc... 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 Coro1c

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 Coro1c.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Coronin 1C inhibits melanoma metastasis through regulation of MT1-MMP-containing extracellular vesicle secretion. Scientific reports (July 2020) Coro1ctm1c(KOMP)Wtsi PMC7371684
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Coro1ctm1a(KOMP)Wtsi PMC7263671
CRN2 binds to TIMP4 and MMP14 and promotes perivascular invasion of glioblastoma cells. European journal of cell biology (October 2019) Coro1ctm1c(KOMP)Wtsi Coro1ctm1d(KOMP)Wtsi 31677819
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Coro1ctm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Coro1ctm1a(KOMP)Wtsi Coro1ctm1a(KOMP)Wtsi PMC6459510
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America (October 2017) Coro1ctm1a(KOMP)Wtsi PMC5676932
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Coro1ctm1a(KOMP)Wtsi PMC5827107
Coronin 1C-free primary mouse fibroblasts exhibit robust rearrangements in the orientation of actin filaments, microtubules and intermediate filaments. European journal of cell biology (May 2016) Coro1ctm1c(KOMP)Wtsi Coro1ctm1a(KOMP)Wtsi Coro1ctm1d(KOMP)Wtsi Coro1ctm1b(KOMP)Wtsi 27178841

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Coro1ctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Coro1ctm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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