Gene Summary

Name:
transient receptor potential cation channel, subfamily C, member 2
Synonyms:
TRPC2b,  trp2,  3010009O07Rik,  Trrp2,  mTrp2,  TRPC2a

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
abnormal brain morphology Trpc2em1(IMPC)Rbrc HOM Late adult 0.00

Download data as:  TSV  XLS

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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.

Gross Pathology and Tissue Collection

Images

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

2 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Human diseases caused by Trpc2 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 Trpc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Lack of peer relationships OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, EEG abnormality OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Lack of peer relationships OMIM:300425
Autism
Impaired ability to form peer relationships, EEG abnormality OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, EEG abnormality OMIM:608636
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Abnormal social behavior ORPHA:436151
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Lack of peer relationships OMIM:300495
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Shyness OMIM:300801
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor... OMIM:616860
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, EEG abnormality OMIM:608049
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Methylcobalamin Deficiency Type Cble
Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia ORPHA:2169
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Refractory Anemia With Excess Blasts
Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Abnormal mean corpuscular volu... ORPHA:86839
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anemia, Anisopoikilocytosis, Dysplastic erythropoesis, Reticulocytopenia, Dec... ORPHA:300298
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:79085
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia, Hyperargininemia OMIM:603471
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... ORPHA:231222
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated pla... ORPHA:90041
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:435651
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Hypochromi... ORPHA:231214
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604367
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, No social interaction, Unhappy demeanor, Anxiety, ... ORPHA:96369
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Laron Syndrome
Hypercholesterolemia ORPHA:633
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:435660
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolyti... OMIM:618278
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98855
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98863
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... ORPHA:261
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hyp... OMIM:615980
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:79240
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia ORPHA:160
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:444490
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:264580
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alstrom Syndrome
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:203800
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Anxiety, Abnormal social behavior ORPHA:64280
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:613327
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Decreased circulating antibody level, Aplastic anemia,... ORPHA:99867
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98907
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Elevated pla... ORPHA:470
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia ORPHA:90674
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
H Syndrome
Hypertriglyceridemia ORPHA:168569
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Xanthelasma, Hypertriglyceridemia ORPHA:79259
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Seckel Syndrome 10
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia ORPHA:167
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Normocytic anemia, Increased circulating antibody level, Normoch... ORPHA:91500
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Chronic Visceral Acid Sphingomyelinase Deficiency
Hyperlipidemia, Abnormal circulating lipid concentration, Hypertriglyceridemia, Increased LDL cho... ORPHA:77293
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia OMIM:619418
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Hyperaldosteronism, Hypophosphatemia ORPHA:534
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration ORPHA:98908
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Increased circulating IgE level ORPHA:330015
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Hypertriglyceridemia OMIM:619573
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Elevated amniotic fluid alpha-fe... OMIM:309000
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarnitine concentratio... ORPHA:157
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Decreased HDL choles... OMIM:256040
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia OMIM:269700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperaldosteronism, H... ORPHA:189427
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarnitine concentratio... ORPHA:228308
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia OMIM:264090
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Conjugated hyperbilirubinemia ORPHA:567983
Atypical Werner Syndrome
Hypertriglyceridemia ORPHA:79474
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232220
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia ORPHA:3455
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Abnormal social behavior ORPHA:177907
Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia ORPHA:565612
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior ORPHA:363958
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Mend Syndrome
Abnormal social behavior ORPHA:401973
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Alström Syndrome
Hyperlipidemia, Hypertriglyceridemia ORPHA:64
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Williams Syndrome
Overfriendliness, Abnormal social behavior ORPHA:904

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 Trpc2

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 Trpc2.

No publications found that use IMPC mice or data for Trpc2.

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MGI Allele Allele Type Produced
Trpc2em1(IMPC)Rbrc Exon Deletion Mice
Trpc2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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