Gene Summary

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

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 exploration in new environment Trpc1em1(IMPC)H HOM Early adult 9.50×10-06
increased circulating alkaline phosphatase level Trpc1em1(IMPC)H HOM Early adult 4.22×10-06
increased spleen weight Trpc1em1(IMPC)H HOM Early adult 4.16×10-09

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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

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
phenotypes
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, Obesity 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, Hepatomegaly, Splenomegaly ORPHA:2274
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
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
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Summitt Syndrome
Obesity OMIM:272350
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Narcolepsy Type 1
Obesity ORPHA:2073
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
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, Jaundice, Splenomegaly OMIM:206400
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microc... ORPHA:846
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... OMIM:613313
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:616860
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Halothane Hepatitis
Obesity OMIM:234350
Adiposis Dolorosa
Obesity OMIM:103200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... OMIM:616278
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Nephronophthisis 15
Obesity OMIM:614845
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... OMIM:185000
Narcolepsy 7
Obesity OMIM:614250
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... OMIM:235700
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... OMIM:616649
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Biemond Syndrome Type 2
Obesity ORPHA:141333
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity ORPHA:71526
Fish-Eye Disease
Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Salivary Duct Calculi
Parotitis OMIM:181010
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation, Hyperhidrosis OMIM:133020
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Sjogren Syndrome
Xerostomia OMIM:270150
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Joubert Syndrome 32
Large for gestational age, Tall stature OMIM:617757
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... OMIM:109270
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Intestinal Botulism
Diarrhea, Dysphagia, Xerostomia ORPHA:178481
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concent... OMIM:615947
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Iatrogenic Botulism
Dysphagia, Xerostomia, Constipation ORPHA:254509
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Overgrowth, Small for gestational age ORPHA:254534
Inhalational Botulism
Diarrhea, Xerostomia, Constipation ORPHA:254504
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Botulism
Xerostomia, Dysphagia, Diarrhea, Constipation ORPHA:1267
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Abcd Syndrome
Large for gestational age OMIM:600501
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Wilson Disease
Increased body weight, Weight loss, Failure to thrive 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
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Helix Syndrome
Hyperparathyroidism, Xerostomia, Hypohidrosis, Anhidrosis OMIM:617671
Insulinoma
Increased body weight ORPHA:97279
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Constipation, Hypohidrosis ORPHA:43393
Sotos Syndrome
Increased body weight, Overgrowth, Tall stature OMIM:117550
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Increased body weight ORPHA:189427
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Increased body weight, Failure to thrive ORPHA:398069
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189439
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Insulin-Resistance Syndrome Type B
Increased body weight, Weight loss, Decreased body weight, Abnormality of body weight ORPHA:2298
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Abdominal obesity, Increased body weight, Truncal obesity ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Increased body weight, Weight loss, Truncal obesity ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

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

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