Gene Summary

Name:
casein kinase 1, gamma 3
Synonyms:
C330049O21Rik,  3300002K07Rik

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 body length Csnk1g3tm1a(EUCOMM)Wtsi HOM Early adult 1.03×10-06
decreased circulating alkaline phosphatase level Csnk1g3tm1a(EUCOMM)Wtsi HOM Early adult 1.71×10-06
decreased hematocrit Csnk1g3tm1a(EUCOMM)Wtsi HOM   Early adult 7.34×10-05
abnormal auditory brainstem response Csnk1g3tm1a(EUCOMM)Wtsi HOM   Early adult 2.94×10-07
abnormal cranium morphology Csnk1g3tm1a(EUCOMM)Wtsi HOM Early adult 5.88×10-06
decreased bone mineral content Csnk1g3tm1a(EUCOMM)Wtsi HOM Early adult 1.08×10-06
increased circulating LDL cholesterol level Csnk1g3tm1a(EUCOMM)Wtsi HOM Early adult 1.30×10-05
decreased circulating fructosamine level Csnk1g3tm1a(EUCOMM)Wtsi HOM   Early adult 2.86×10-05
increased mean corpuscular hemoglobin Csnk1g3tm1a(EUCOMM)Wtsi HOM Early adult 7.99×10-08
decreased erythrocyte cell number Csnk1g3tm1a(EUCOMM)Wtsi HOM Early adult 2.44×10-05
absent pinna reflex Csnk1g3tm1a(EUCOMM)Wtsi HOM   Early adult 7.38×10-05

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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 Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Ear epidermis immunophenotyping

Images

9 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Csnk1g3 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 Csnk1g3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
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
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... OMIM:144300
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... ORPHA:3240
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot... OMIM:600501
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor... OMIM:300946
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... OMIM:210250
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Hypercholesterolemia OMIM:607250
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating c... OMIM:616828
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia ORPHA:75234
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomeg... OMIM:278000
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Morgagni-Stewart-Morel Syndrome
Action tremor, Hyperuricemia, Hypercholesterolemia, Osteoporosis, Hyperostosis frontalis interna ORPHA:77296
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio... ORPHA:247598
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... ORPHA:90321
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hearing impairment, Abnormal middle ear morphology, Hyperchol... OMIM:182290
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia,... OMIM:277460
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Tremor, Hypermanganesemia, Unconjugated hype... OMIM:613280
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote... OMIM:207750
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Galactokinase Deficiency
Hepatosplenomegaly, Sensorineural hearing impairment, Hypercholesterolemia, Increased level of ga... ORPHA:79237
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... ORPHA:79330
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Aplasia/Hypoplasia of the earlobes, Low-set, posteriorly rotated ears, HbH hem... ORPHA:98791
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia ORPHA:254531
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme con... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... ORPHA:79240
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Temple Syndrome
Recurrent otitis media, Posteriorly rotated ears, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Overfolded helix, Cupped ear, Persistence of hemoglobin F OMIM:617101
Lead Poisoning
Imbalanced hemoglobin synthesis, Cranial hyperostosis, Increased LDL cholesterol concentration, A... ORPHA:330015
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O... ORPHA:470
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Hearing impairment, Persistence of hemoglobin... OMIM:617052
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,... ORPHA:909
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Bone cyst, Hypertriglyceridemia ORPHA:528
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, Short-segment agangl... OMIM:609136
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Sensorineural hearing impairment, Protruding ear, Hypercholesterolemia, EEG abnormality ORPHA:2479
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Tinnitus, Decreased circulating renin level, Glucocortocoid-insensitive primary hype... ORPHA:231632
Smith-Magenis Syndrome
Conductive hearing impairment, Hypercholesterolemia, EEG abnormality, Hypertriglyceridemia, Chron... ORPHA:819
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,... OMIM:133540
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Tinnitus, G... ORPHA:231625
Laron Syndrome
Hypercholesterolemia ORPHA:633
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Sensorineural hearing impairment, ... OMIM:300972
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,... OMIM:216400
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Hyperchol... ORPHA:2457
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Tinnitus, Decreased circulati... ORPHA:231580
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... ORPHA:124
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Recurrent otitis media, Hypercholesterolemia ORPHA:96184
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypokalemia, Decreased circulating renin level OMIM:613677
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... ORPHA:186
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypercholesterolemia ORPHA:90065
Neuhauser Syndrome
Cupped ear, Osteopenia, Hypercholesterolemia, Large fleshy ears OMIM:249310
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormal hemoglobin, Sensorineural hearing impairment, Aganglionic megacolon, Anemia ORPHA:847
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Osteoporosis, Hyper... ORPHA:79259
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Hyponatremia, Hypercholesterolemia,... ORPHA:275761
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, HbH hemoglobin, Sensorineural hearing impairment, Hypochromic microcytic anemia, Re... OMIM:301040
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Decreased circulating renin level ORPHA:320
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Mend Syndrome
Low-set ears, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal auditory evoked ... ORPHA:401973
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Hypercholesterolemia, Calc... OMIM:248370
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Prader-Willi Syndrome
Osteopenia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, ... OMIM:176270
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hyperaldosteronism, Low-set, posteriorly rotated ears, Hyponatremia, Hypokalemia, P... ORPHA:534
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level ORPHA:90795
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De... ORPHA:90793
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Bardet-Biedl Syndrome 20
Papilledema, Hypercholesterolemia OMIM:619471
Alkaptonuria
Methemoglobinemia, Reduced bone mineral density, Hemolytic anemia ORPHA:56
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level OMIM:202010
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Rickets, Osteomalacia, Elevated circulating creatine k... OMIM:309000
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Alagille Syndrome 1
Low-set ears, Hypercholesterolemia, Macrotia, Hypertriglyceridemia OMIM:118450
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Tinnitus, Hypercholesterolemia, Orthostatic hypotension, Hypertriglyceridemia OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Low-set ears, Osteopenia, Hearing impairment, Increased circulating ferritin con... OMIM:619534
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Conductive hearing impairment, Decreased circulating renin level, Hyponatremia, Dec... OMIM:201750
Steinert Myotonic Dystrophy
Hypercholesterolemia, Facial diplegia ORPHA:273
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Optic neuropathy ORPHA:391665

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 Csnk1g3

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 Csnk1g3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Csnk1g3tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Csnk1g3tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Csnk1g3tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)