Gene Summary

transient receptor potential cation channel, subfamily C, member 1
Trrp1,  Trp1,  Mtrp1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 exploration in new environment Trpc1em1(IMPC)H HOM Early adult 9.50×10-06
increased spleen weight Trpc1em1(IMPC)H HOM Early adult 4.16×10-09
increased circulating alkaline phosphatase level Trpc1em1(IMPC)H HOM Early adult 4.29×10-06

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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.


XRay Images Whole Body Dorso Ventral

12 Images


XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Trpc1 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 Trpc1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Splenomegaly, Hepatomegaly ORPHA:2274
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Summitt Syndrome
Obesity OMIM:272350
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Narcolepsy Type 1
Obesity ORPHA:2073
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Cholelithiasis, Microcytic anemia, Cognitive impairment, Splenomegaly, Jaundice, Anemia, Hemolyti... ORPHA:846
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis, Hyperam... OMIM:271500
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Abcd Syndrome
Large for gestational age OMIM:600501
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Overweight OMIM:615032
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Halothane Hepatitis
Obesity OMIM:234350
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Adiposis Dolorosa
Obesity OMIM:103200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Cirrhosis, N... OMIM:214900
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:612653
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Hyperbilirubinemia, Stomatocytosis, Retic... OMIM:185000
Nephronophthisis 15
Obesity OMIM:614845
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Narcolepsy 7
Obesity OMIM:614250
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Acanthocytosis, Jaundice, Increased mean corpuscular hemoglobin conce... OMIM:616689
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reti... OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reti... OMIM:616649
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Biemond Syndrome Type 2
Obesity ORPHA:141333
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71526
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Erythermalgia, Primary
Constipation, Xerostomia, Diarrhea, Hyperhidrosis OMIM:133020
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Sjogren Syndrome
Xerostomia OMIM:270150
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Joubert Syndrome 32
Large for gestational age, Tall stature OMIM:617757
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Splenom... OMIM:194380
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Elli... OMIM:109270
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Intestinal Botulism
Diarrhea, Xerostomia, Dysphagia ORPHA:178481
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Po... ORPHA:3202
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, De... OMIM:615947
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Iatrogenic Botulism
Constipation, Xerostomia, Dysphagia ORPHA:254509
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Small for gestational age, Overgrowth ORPHA:254534
Inhalational Botulism
Constipation, Xerostomia, Diarrhea ORPHA:254504
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Wilson Disease
Failure to thrive, Weight loss, Increased body weight ORPHA:905
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity OMIM:194072
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Increased body weight ORPHA:263455
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Helix Syndrome
Hyperparathyroidism, Xerostomia, Hypohidrosis, Anhidrosis OMIM:617671
Increased body weight ORPHA:97279
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth OMIM:117550
Lambert-Eaton Myasthenic Syndrome
Constipation, Xerostomia, Hypohidrosis ORPHA:43393
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased body weight, Abdominal obesity ORPHA:189427
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Increased body weight, Abdominal obesity ORPHA:398069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Primary Pigmented Nodular Adrenocortical Disease
Increased body weight, Abdominal obesity ORPHA:189439
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Weight loss, Increased body weight, Decreased body weight ORPHA:2298
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Increased body weight, Abdominal obesity, Truncal obesity ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Weight loss, Increased body weight, Abdominal obesity, Truncal obesity ORPHA:99889
Carney Complex
Tall stature, Increased body weight, Abdominal obesity ORPHA:1359


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 Trpc1

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 Trpc1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Activation of TRPC1 Channel by Metabotropic Glutamate Receptor mGluR5 Modulates Synaptic Plasticity and Spatial Working Memory. Frontiers in Cellular Neuroscience (September 2018) Trpc1tm1a(EUCOMM)Hmgu PMC6149316

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MGI Allele Allele Type Produced
Trpc1em2(IMPC)H Exon Deletion Mice
Trpc1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trpc1em1(IMPC)H Exon Deletion Mice
Trpc1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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