Gene Summary

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

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 1.11×10-05
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

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.

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
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Obesity
Increased waist to hip ratio, Obesity 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
Dementia, Hepatomegaly, Splenomegaly ORPHA:2274
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate 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
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Summitt Syndrome
Obesity OMIM:272350
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Narcolepsy Type 1
Obesity ORPHA:2073
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity OMIM:240900
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
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
Overgrowth, Obesity OMIM:620195
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bili... 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
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... OMIM:618963
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Non Rare In Europe: Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Cognitive impairment, Microcytic anemia,... ORPHA:846
Splenoportal Vascular Anomalies
Hyperammonemia, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, ... OMIM:271500
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Adiposis Dolorosa
Obesity OMIM:103200
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Hyperbilirubinemia, Portal hypertensio... OMIM:616278
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Nephronophthisis 15
Obesity OMIM:614845
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprot... OMIM:207750
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:612653
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochr... OMIM:615234
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Cholelithiasis, S... OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Cholecystitis, Normochromic ane... OMIM:235700
Biemond Syndrome Type 2
Obesity ORPHA:141333
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, S... OMIM:616649
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Failure to thrive, Obesity ORPHA:71526
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reduced haptoglobin level, Reticulocytosis, Hep... OMIM:266200
Fish-Eye Disease
Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Erythermalgia, Primary
Constipation, Xerostomia, Diarrhea, Hyperhidrosis OMIM:133020
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Sjogren Syndrome
Xerostomia OMIM:270150
Bardet-Biedl Syndrome 2
Obesity OMIM:615981
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Joubert Syndrome 32
Tall stature, Large for gestational age OMIM:617757
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Laurence-Moon Syndrome
Obesity OMIM:245800
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Intestinal Botulism
Dysphagia, Xerostomia, Diarrhea ORPHA:178481
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Congenital Myopathy 9A
Obesity OMIM:618822
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Narcolepsy 7
Obesity OMIM:614250
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Jaundice, Hypercholesterolemia, Pancreatitis, Hyperlipidemia, Increased circu... OMIM:238600
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... OMIM:615947
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Iatrogenic Botulism
Dysphagia, Xerostomia, Constipation ORPHA:254509
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Overgrowth, Large for gestational age ORPHA:254534
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Inhalational Botulism
Constipation, Xerostomia, Diarrhea ORPHA:254504
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Abcd Syndrome
Large for gestational age OMIM:600501
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
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Abdominal Obesity-Metabolic Syndrome 4
Obesity OMIM:618620
Wilson Disease
Weight loss, Failure to thrive, Increased body weight ORPHA:905
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
Helix Syndrome
Hyperparathyroidism, Hypohidrosis, Anhidrosis, Xerostomia OMIM:617671
Insulinoma
Increased body weight ORPHA:97279
Retinitis Pigmentosa 74
Obesity OMIM:616562
Lambert-Eaton Myasthenic Syndrome
Constipation, Hypohidrosis, Xerostomia ORPHA:43393
Sotos Syndrome
Tall stature, Overgrowth, Increased body weight OMIM:117550
Adrenocortical Carcinoma
Weight loss, Increased body weight ORPHA:1501
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Obsolete: Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189439
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormality of body weight, Weight loss, Increased body weight ORPHA:2298
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Weight loss, Increased body weight ORPHA:99889
Carney Complex
Tall stature, Abdominal obesity, 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
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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