Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Wholemount images | heterozygote | Ambiguous |
Adrenal gland | Wholemount images | homozygote | Ambiguous |
Brain | Wholemount images | heterozygote | 100% (4 of 4) |
Brain | Wholemount images | homozygote | 100% (2 of 2) |
Cecum | Wholemount images | heterozygote | Ambiguous |
Cecum | Wholemount images | homozygote | Ambiguous |
Chest bone | Wholemount images | heterozygote | Ambiguous |
Chest bone | Wholemount images | homozygote | Ambiguous |
Duodenum | Wholemount images | heterozygote | Ambiguous |
Duodenum | Wholemount images | homozygote | Ambiguous |
Epididymis | Wholemount images | homozygote | Not available |
Esophagus | Wholemount images | heterozygote | 100% (4 of 4) |
Esophagus | Wholemount images | homozygote | 100% (2 of 2) |
Gall bladder | Wholemount images | heterozygote | Ambiguous |
Gall bladder | Wholemount images | homozygote | Not available |
Harderian gland | Wholemount images | heterozygote | Ambiguous |
Harderian gland | Wholemount images | homozygote | Ambiguous |
Ileum | Wholemount images | heterozygote | Ambiguous |
Ileum | Wholemount images | homozygote | Ambiguous |
Jejunum | Wholemount images | heterozygote | Ambiguous |
Jejunum | Wholemount images | homozygote | Ambiguous |
Kidney | Wholemount images | heterozygote | 100% (4 of 4) |
Kidney | Wholemount images | homozygote | 100% (2 of 2) |
Large intestine | Wholemount images | heterozygote | Ambiguous |
Large intestine | Wholemount images | homozygote | Ambiguous |
Liver | Wholemount images | heterozygote | Ambiguous |
Liver | Wholemount images | homozygote | Ambiguous |
Lung | Wholemount images | heterozygote | 100% (4 of 4) |
Lung | Wholemount images | homozygote | 100% (2 of 2) |
Lymph node | Wholemount images | heterozygote | Ambiguous |
Lymph node | Wholemount images | homozygote | Ambiguous |
Main olfactory bulb | Wholemount images | heterozygote | Ambiguous |
Main olfactory bulb | Wholemount images | homozygote | Ambiguous |
Mammary gland | Wholemount images | heterozygote | 50% (2 of 4) |
Mammary gland | Wholemount images | homozygote | 50% (1 of 2) |
Mesenteric lymph node | Wholemount images | heterozygote | Ambiguous |
Mesenteric lymph node | Wholemount images | homozygote | Ambiguous |
Olfactory lobe | Wholemount images | heterozygote | Ambiguous |
Olfactory lobe | Wholemount images | homozygote | Ambiguous |
Ovary | Wholemount images | heterozygote | 50% (2 of 4) |
Ovary | Wholemount images | homozygote | 50% (1 of 2) |
Oviduct | Wholemount images | heterozygote | 50% (2 of 4) |
Oviduct | Wholemount images | homozygote | 50% (1 of 2) |
Pancreas | Wholemount images | heterozygote | 100% (4 of 4) |
Pancreas | Wholemount images | homozygote | 100% (2 of 2) |
Parathyroid gland | Wholemount images | heterozygote | Ambiguous |
Parathyroid gland | Wholemount images | homozygote | Ambiguous |
Parotid gland | Wholemount images | heterozygote | Ambiguous |
Parotid gland | Wholemount images | homozygote | Ambiguous |
Penis | Wholemount images | heterozygote | 50% (2 of 4) |
Penis | Wholemount images | homozygote | 50% (1 of 2) |
Peyer's patch | Wholemount images | heterozygote | Ambiguous |
Peyer's patch | Wholemount images | homozygote | Ambiguous |
Pituitary gland | Wholemount images | heterozygote | Ambiguous |
Pituitary gland | Wholemount images | homozygote | Ambiguous |
Prostate gland | Wholemount images | heterozygote | Not available |
Prostate gland | Wholemount images | homozygote | Not available |
Skin | Wholemount images | heterozygote | Ambiguous |
Skin | Wholemount images | homozygote | Ambiguous |
Spleen | Wholemount images | heterozygote | 100% (4 of 4) |
Spleen | Wholemount images | homozygote | 100% (2 of 2) |
Stomach | Wholemount images | heterozygote | Ambiguous |
Stomach | Wholemount images | homozygote | Ambiguous |
Sublingual gland | Wholemount images | heterozygote | Ambiguous |
Sublingual gland | Wholemount images | homozygote | Ambiguous |
Submandibular gland | Wholemount images | heterozygote | Ambiguous |
Submandibular gland | Wholemount images | homozygote | Ambiguous |
Testis | Wholemount images | heterozygote | Not available |
Testis | Wholemount images | homozygote | Not available |
Thymus | Wholemount images | heterozygote | Ambiguous |
Thymus | Wholemount images | homozygote | Ambiguous |
Thyroid gland | Wholemount images | heterozygote | Ambiguous |
Thyroid gland | Wholemount images | homozygote | Ambiguous |
Tongue | Wholemount images | heterozygote | 100% (4 of 4) |
Tongue | Wholemount images | homozygote | 100% (2 of 2) |
Trachea | Wholemount images | heterozygote | Ambiguous |
Trachea | Wholemount images | homozygote | Ambiguous |
Trigeminal V nerve | Wholemount images | heterozygote | 100% (4 of 4) |
Trigeminal V nerve | Wholemount images | homozygote | 100% (2 of 2) |
Urinary bladder | Wholemount images | heterozygote | Ambiguous |
Urinary bladder | Wholemount images | homozygote | Ambiguous |
Uterus | Wholemount images | heterozygote | 50% (2 of 4) |
Uterus | Wholemount images | homozygote | 50% (1 of 2) |
Vagina | Wholemount images | heterozygote | 50% (2 of 4) |
Vagina | Wholemount images | homozygote | 50% (1 of 2) |
Vesicular gland | Wholemount images | heterozygote | Not available |
Vesicular gland | Wholemount images | homozygote | 50% (1 of 2) |
Aorta | N/A | heterozygote | 0.0% (0 of 4) |
Aorta | N/A | homozygote | 0.0% (0 of 2) |
Bone | N/A | heterozygote | Ambiguous |
Bone | N/A | homozygote | Ambiguous |
Brainstem | N/A | heterozygote | 0.0% (0 of 4) |
Brainstem | N/A | homozygote | 0.0% (0 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 4) |
Brown adipose tissue | N/A | homozygote | 0.0% (0 of 2) |
Cartilage tissue | N/A | heterozygote | Ambiguous |
Cartilage tissue | N/A | homozygote | Ambiguous |
Cerebellum | N/A | heterozygote | 0.0% (0 of 4) |
Cerebellum | N/A | homozygote | 0.0% (0 of 2) |
Cerebral cortex | N/A | heterozygote | 100% (4 of 4) |
Cerebral cortex | N/A | homozygote | 100% (2 of 2) |
Colon | N/A | heterozygote | Ambiguous |
Colon | N/A | homozygote | Ambiguous |
Cranium | N/A | heterozygote | 0.0% (0 of 4) |
Cranium | N/A | homozygote | 0.0% (0 of 2) |
Diaphragm | N/A | heterozygote | 0.0% (0 of 4) |
Diaphragm | N/A | homozygote | 0.0% (0 of 2) |
Epididymis | N/A | heterozygote | Not available |
Eye | N/A | heterozygote | 0.0% (0 of 4) |
Eye | N/A | homozygote | 0.0% (0 of 2) |
Gonadal fat pad | N/A | heterozygote | 0.0% (0 of 4) |
Gonadal fat pad | N/A | homozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 4) |
Heart | N/A | homozygote | 0.0% (0 of 2) |
Hindlimb | N/A | heterozygote | Ambiguous |
Hindlimb | N/A | homozygote | Ambiguous |
Hippocampus | N/A | heterozygote | 100% (4 of 4) |
Hippocampus | N/A | homozygote | 100% (2 of 2) |
Hypothalamus | N/A | heterozygote | 0.0% (0 of 4) |
Hypothalamus | N/A | homozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | Ambiguous |
Lower urinary tract | N/A | homozygote | Ambiguous |
Mesenteric adipose tissue | N/A | heterozygote | 0.0% (0 of 4) |
Mesenteric adipose tissue | N/A | homozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 0.0% (0 of 4) |
Midbrain | N/A | homozygote | 0.0% (0 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 4) |
Oral epithelium | N/A | homozygote | 0.0% (0 of 2) |
Peripheral nervous system | N/A | heterozygote | 0.0% (0 of 4) |
Peripheral nervous system | N/A | homozygote | 0.0% (0 of 2) |
Quadriceps | N/A | heterozygote | 0.0% (0 of 4) |
Quadriceps | N/A | homozygote | 0.0% (0 of 2) |
Sciatic nerve | N/A | heterozygote | 0.0% (0 of 4) |
Sciatic nerve | N/A | homozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 4) |
Skeletal muscle | N/A | homozygote | 0.0% (0 of 2) |
Small intestine | N/A | heterozygote | Ambiguous |
Small intestine | N/A | homozygote | Ambiguous |
Spinal cord | N/A | heterozygote | 0.0% (0 of 4) |
Spinal cord | N/A | homozygote | 0.0% (0 of 2) |
Stomach pyloric region | N/A | heterozygote | 0.0% (0 of 4) |
Stomach pyloric region | N/A | homozygote | 0.0% (0 of 2) |
Striatum | N/A | heterozygote | 0.0% (0 of 4) |
Striatum | N/A | homozygote | 0.0% (0 of 2) |
Thalamus | N/A | heterozygote | 0.0% (0 of 4) |
Thalamus | N/A | homozygote | 0.0% (0 of 2) |
Vas deferens | N/A | heterozygote | Not available |
Vas deferens | N/A | homozygote | Not available |
Vascular system | N/A | heterozygote | 0.0% (0 of 4) |
Vascular system | N/A | homozygote | 100% (2 of 2) |
White adipose tissue | N/A | heterozygote | 0.0% (0 of 4) |
White adipose tissue | N/A | homozygote | 0.0% (0 of 2) |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Embryo | N/A | heterozygote | 100% (6 of 6) |
Embryo | N/A | homozygote | 100% (1 of 1) |
Forelimb | N/A | heterozygote | 100% (6 of 6) |
Forelimb | N/A | homozygote | 100% (1 of 1) |
Head | N/A | heterozygote | 100% (6 of 6) |
Head | N/A | homozygote | 100% (1 of 1) |
Heart | N/A | heterozygote | 0.0% (0 of 6) |
Heart | N/A | homozygote | 0.0% (0 of 1) |
Hindlimb | N/A | heterozygote | 100% (6 of 6) |
Hindlimb | N/A | homozygote | 100% (1 of 1) |
Liver | N/A | heterozygote | 83.33% (5 of 6) |
Liver | N/A | homozygote | 100% (1 of 1) |
Lung | N/A | heterozygote | 0.0% (0 of 6) |
Lung | N/A | homozygote | 0.0% (0 of 1) |
Tail | N/A | heterozygote | 100% (6 of 6) |
Tail | N/A | homozygote | 100% (1 of 1) |
Brain | N/A | heterozygote | 0.0% (0 of 6) |
Brain | N/A | homozygote | 0.0% (0 of 1) |
Ear | N/A | heterozygote | 0.0% (0 of 6) |
Ear | N/A | homozygote | 0.0% (0 of 1) |
Eye | N/A | heterozygote | 0.0% (0 of 6) |
Eye | N/A | homozygote | 0.0% (0 of 1) |
Footplate | N/A | heterozygote | 100% (6 of 6) |
Footplate | N/A | homozygote | 100% (1 of 1) |
Forearm | N/A | heterozygote | 100% (6 of 6) |
Forearm | N/A | homozygote | 100% (1 of 1) |
Forebrain | N/A | heterozygote | 0.0% (0 of 6) |
Forebrain | N/A | homozygote | 0.0% (0 of 1) |
Handplate | N/A | heterozygote | 100% (6 of 6) |
Handplate | N/A | homozygote | 100% (1 of 1) |
Hindbrain | N/A | heterozygote | 0.0% (0 of 6) |
Hindbrain | N/A | homozygote | 0.0% (0 of 1) |
Lower leg | N/A | heterozygote | 100% (6 of 6) |
Lower leg | N/A | homozygote | 100% (1 of 1) |
Mandibular process | N/A | heterozygote | 83.33% (5 of 6) |
Mandibular process | N/A | homozygote | 100% (1 of 1) |
Maxillary process | N/A | heterozygote | 83.33% (5 of 6) |
Maxillary process | N/A | homozygote | 100% (1 of 1) |
Midbrain | N/A | heterozygote | 0.0% (0 of 6) |
Midbrain | N/A | homozygote | 0.0% (0 of 1) |
Oral cavity | N/A | heterozygote | 0.0% (0 of 6) |
Oral cavity | N/A | homozygote | 0.0% (0 of 1) |
Skin | N/A | heterozygote | 0.0% (0 of 6) |
Skin | N/A | homozygote | 0.0% (0 of 1) |
Tail somite | N/A | heterozygote | 0.0% (0 of 6) |
Tail somite | N/A | homozygote | 0.0% (0 of 1) |
Upper arm | N/A | heterozygote | 100% (6 of 6) |
Upper arm | N/A | homozygote | 100% (1 of 1) |
Upper leg | N/A | heterozygote | 100% (6 of 6) |
Upper leg | N/A | homozygote | 100% (1 of 1) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.0% |
aorta | 0.0% |
bone | 0.0% |
brain | 0.0% |
brainstem | 0.0% |
brown adipose tissue | 0.0% |
cartilage tissue | 0.0% |
cecum | 0.0% |
cerebellum | 0.0% |
cerebral cortex | 0.0% |
chest bone | |
colon | |
cranium | |
diaphragm | 0.0% |
duodenum | 0.0% |
epididymis | Unavailable |
esophagus | 0.0% |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 0.0% |
harderian gland | |
heart | 0.0% |
hindlimb | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
ileum | 0.0% |
jejunum | |
kidney | 0.0% |
large intestine | 0.0% |
liver | 0.0% |
lower urinary tract | 0.0% |
lung | 0.0% |
lymph node | 0.0% |
main olfactory bulb | 0.0% |
mammary gland | 0.0% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | |
midbrain | 0.0% |
olfactory lobe | 0.0% |
oral epithelium | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
parathyroid gland | 0.0% |
parotid gland | 0.0% |
penis | 0.0% |
peripheral nervous system | 0.0% |
peyers patch | 0.0% |
pituitary gland | 0.0% |
prostate gland | 0.0% |
quadriceps | 0.0% |
sciatic nerve | 0.0% |
skeletal muscle | 0.0% |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
stomach pyloric region | 0.0% |
striatum | 0.0% |
sublingual gland | 0.0% |
submandibular gland | 0.0% |
testis | 0.0% |
thalamus | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
tongue | 0.0% |
trachea | 0.0% |
trigeminal v nerve | 0.0% |
urinary bladder | |
uterus | 0.0% |
vagina | 0.0% |
vas deferens | Unavailable |
vascular system | 0.0% |
vesicular gland | Unavailable |
white adipose tissue | 0.0% |
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
Anatomy | Background staining in controls(WT) |
---|---|
brain | 0.0% |
ear | 0.0% |
embryo | 0.0% |
eye | 0.0% |
footplate | 0.0% |
forearm | Ambiguous |
forebrain | 0.0% |
forelimb | 0.0% |
handplate | 0.0% |
head | 0.0% |
heart | 0.0% |
hindbrain | 0.0% |
hindlimb | 0.0% |
liver | 0.0% |
lower leg | Ambiguous |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
midbrain | 0.0% |
oral cavity | 0.0% |
skin | 0.0% |
tail | 0.0% |
tail somite group | 0.0% |
upper arm | Ambiguous |
upper leg | Ambiguous |
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.
The table below shows human diseases associated to Trpc6 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Focal Segmental Glomerulosclerosis 2 | Hypertension | OMIM:603965 | |
Genetic Steroid-Resistant Nephrotic Syndrome | ORPHA:656 |
The table below shows human diseases predicted to be associated to Trpc6 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Familial Cylindromatosis | Telangiectasia of the skin | ORPHA:211 | |
Intracranial Hypertension, Idiopathic | Hypertension | OMIM:243200 | |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 | Hypertension | OMIM:605572 | |
Abdominal Obesity-Metabolic Syndrome 1 | Hypertension | OMIM:605552 | |
Moyamoya Disease 1 | Inflammatory arteriopathy, Telangiectasia | OMIM:252350 | |
Capillary Malformation-Arteriovenous Malformation 2 | Telangiectasia | OMIM:618196 | |
Telangiectasia, Hereditary Benign | Diffuse telangiectasia | OMIM:187260 | |
Pheochromocytoma/Paraganglioma Syndrome 6 | Hypertension | OMIM:618464 | |
Telangiectasia, Hereditary Hemorrhagic, Type 5 | Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia | OMIM:615506 | |
Hyperaldosteronism, Familial, Type Iv | Hypertension | OMIM:617027 | |
Atrial Fibrillation, Familial, 14 | ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval | OMIM:615378 | |
Focal Segmental Glomerulosclerosis 2 | Hypertension | OMIM:603965 | |
Hyperaldosteronism, Familial, Type Ii | Hypertension | OMIM:605635 | |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy | Hypertension | OMIM:605115 | |
Pulmonary Hypertension, Primary, 1 | Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... | OMIM:178600 | |
Arterial Calcification, Generalized, Of Infancy, 2 | Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... | OMIM:614473 | |
Cutis Marmorata Telangiectatica Congenita | Hypertension, Telangiectasia | OMIM:219250 | |
Telangiectasia, Hereditary Hemorrhagic, Type 2 | Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... | OMIM:600376 | |
Genetic Steroid-Resistant Nephrotic Syndrome | ORPHA:656 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
MGI Allele | Allele Type | Produced |
---|---|---|
Trpc6tm1(NCOM)Mfgc | Reporter-tagged deletion allele (with selection cassette) | Mice, Targeting vectors, ES Cells |
Trpc6tm1.1(NCOM)Mfgc | Reporter-tagged deletion allele (post Cre, with no selection cassette) | Mice |
Trpc6tm403293(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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