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
increased spleen weight Trpc1em1(IMPC)H HOM Early adult 4.73×10-09
increased circulating alkaline phosphatase level Trpc1em1(IMPC)H HOM Early adult 6.03×10-06
decreased exploration in new environment Trpc1em1(IMPC)H HOM Early adult 1.11×10-05

Download data as:  TSV  XLS

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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 Dorso Ventral

12 Images

X-ray

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
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
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
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
Hepatomegaly, Splenomegaly, Dementia ORPHA:2274
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Obesity And Hypopigmentation
Obesity, Overgrowth OMIM:620195
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Trimethylaminuria
Depression, Anemia, Splenomegaly, Neutropenia OMIM:602079
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Increased total... OMIM:619868
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... OMIM:271500
Adiposis Dolorosa
Obesity OMIM:103200
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... OMIM:616278
Immunodeficiency 61
Obesity OMIM:300310
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Nephronophthisis 15
Obesity OMIM:614845
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla... OMIM:615234
Biemond Syndrome Type 2
Obesity ORPHA:141333
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
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
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu... OMIM:266200
Erythermalgia, Primary
Diarrhea, Hyperhidrosis, Xerostomia, Constipation OMIM:133020
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy ORPHA:79292
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Sjogren Syndrome
Xerostomia OMIM:270150
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Joubert Syndrome 32
Large for gestational age, Tall stature OMIM:617757
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Laurence-Moon Syndrome
Obesity OMIM:245800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Intestinal Botulism
Diarrhea, Dysphagia, Xerostomia ORPHA:178481
Postorgasmic Illness Syndrome
Hyperhidrosis, Xerostomia ORPHA:279947
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... OMIM:300908
Congenital Myopathy 9A
Obesity OMIM:618822
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Iatrogenic Botulism
Constipation, Dysphagia, Xerostomia ORPHA:254509
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Narcolepsy 7
Obesity OMIM:614250
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
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Botulism
Diarrhea, Dysphagia, Xerostomia, Constipation ORPHA:1267
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Prune Belly Syndrome
Oligohydramnios, Xerostomia OMIM:100100
Adiposis Dolorosa
Diarrhea, Hypothyroidism, Xerostomia, Constipation ORPHA:36397
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Foodborne Botulism
Diarrhea, Dysphagia, Xerostomia, Constipation ORPHA:228371
Abcd Syndrome
Large for gestational age OMIM:600501
Burning Mouth Syndrome
Xerostomia ORPHA:353253
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Yao Syndrome
Diarrhea, Xerostomia OMIM:617321
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Helix Syndrome
Hypohidrosis, Xerostomia, Hyperparathyroidism, Anhidrosis OMIM:617671
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Dysphagia ORPHA:779
Congenital 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
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Diarrhea, Hematochezia, Vomiting, Xerostomia OMIM:175500
Infant Botulism
Constipation, Xerostomia, Dysphagia, Bowel incontinence ORPHA:178478
Insulinoma
Increased body weight ORPHA:97279
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Xerostomia, Constipation ORPHA:43393
Retinitis Pigmentosa 74
Obesity OMIM:616562
Kilquist Syndrome
Gastroesophageal reflux, Xerostomia, Chronic constipation OMIM:619080
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth OMIM:117550
Lacrimoauriculodentodigital Syndrome 3
Xerostomia OMIM:620193
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Xerostomia OMIM:614941
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight 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
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Insulin-Resistance Syndrome Type B
Increased body weight, Decreased body weight, Abnormality of body weight, Weight loss ORPHA:2298
Hellp Syndrome
Increased body weight ORPHA:244242
Igg4-Related Submandibular Gland Disease
Facial edema, Prostatitis, Xerostomia, Periorbital edema ORPHA:449432
Cushing Disease
Abdominal obesity, Increased body weight, Truncal obesity ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Increased body weight, Truncal obesity, Weight loss ORPHA:99889
Carney Complex
Abdominal obesity, Tall stature, Increased body weight 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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