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.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
increased red blood cell distribution width | Vps13ctm1b(EUCOMM)Hmgu | HOM | Late adult | 1.46×10-09 | ||
decreased thigmotaxis | Vps13ctm1b(EUCOMM)Hmgu | HOM | Late adult | 4.71×10-07 | ||
abnormal behavior | Vps13ctm1b(EUCOMM)Hmgu | HOM | Late adult | 4.71×10-07 | ||
decreased hematocrit | Vps13ctm1b(EUCOMM)Hmgu | HOM | Early adult | 2.06×10-06 | ||
increased circulating aspartate transaminase level | Vps13ctm1b(EUCOMM)Hmgu | HOM | Late adult | 2.14×10-06 | ||
increased circulating alkaline phosphatase level | Vps13ctm1b(EUCOMM)Hmgu | HOM | Early adult | 2.94×10-06 | ||
increased circulating amylase level | Vps13ctm1b(EUCOMM)Hmgu | HOM | Early adult | 1.56×10-28 | ||
increased circulating alanine transaminase level | Vps13ctm1b(EUCOMM)Hmgu | HOM | Late adult | 8.42×10-08 | ||
increased circulating lipase level | Vps13ctm1b(EUCOMM)Hmgu | HOM | Early adult | 1.20×10-22 | ||
abnormal cornea morphology | Vps13ctm1b(EUCOMM)Hmgu | HOM | Early adult | 7.31×10-05 | ||
increased circulating amylase level | Vps13ctm1b(EUCOMM)Hmgu | HOM | Late adult | 7.52×10-26 | ||
increased red blood cell distribution width | Vps13ctm1b(EUCOMM)Hmgu | HOM | Early adult | 9.60×10-07 | ||
decreased circulating fructosamine level | Vps13ctm1b(EUCOMM)Hmgu | HOM | Late adult | 1.87×10-10 | ||
decreased locomotor activity | Vps13ctm1b(EUCOMM)Hmgu | HOM | Late adult | 4.74×10-08 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | Wholemount images | heterozygote | 100% (2 of 2) |
Chest bone | Wholemount images | heterozygote | 100% (2 of 2) |
Cranium | Wholemount images | heterozygote | 100% (2 of 2) |
Eye | Wholemount images | heterozygote | 100% (2 of 2) |
Heart | Wholemount images | heterozygote | 100% (2 of 2) |
Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
Lymph node | Wholemount images | heterozygote | 50% (1 of 2) |
Pancreas | Wholemount images | heterozygote | 100% (2 of 2) |
Penis | Wholemount images | heterozygote | 50% (1 of 2) |
Pituitary gland | Wholemount images | heterozygote | 100% (2 of 2) |
Skin | Wholemount images | heterozygote | 100% (2 of 2) |
Spinal cord | Wholemount images | heterozygote | 100% (2 of 2) |
Stomach | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | Wholemount images | heterozygote | 50% (1 of 2) |
Urinary bladder | Wholemount images | heterozygote | 50% (1 of 2) |
Uterus | Wholemount images | heterozygote | 50% (1 of 2) |
Adrenal gland | N/A | heterozygote | 0.0% (0 of 2) |
Aorta | N/A | heterozygote | 0.0% (0 of 2) |
Blood | N/A | heterozygote | 0.0% (0 of 2) |
Bone marrow | N/A | heterozygote | 0.0% (0 of 2) |
Bone | N/A | heterozygote | 0.0% (0 of 2) |
Brainstem | N/A | heterozygote | 0.0% (0 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cartilage tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cecum | N/A | heterozygote | 0.0% (0 of 2) |
Cerebellum | N/A | heterozygote | 0.0% (0 of 2) |
Cerebral cortex | N/A | heterozygote | 0.0% (0 of 2) |
Colon | N/A | heterozygote | 0.0% (0 of 2) |
Diaphragm | N/A | heterozygote | 0.0% (0 of 2) |
Epididymis | N/A | heterozygote | Not available |
Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
Gall bladder | N/A | heterozygote | 0.0% (0 of 2) |
Harderian gland | N/A | heterozygote | 0.0% (0 of 2) |
Hindlimb | N/A | heterozygote | 0.0% (0 of 2) |
Hippocampus | N/A | heterozygote | 0.0% (0 of 2) |
Hypothalamus | N/A | heterozygote | 0.0% (0 of 2) |
Large intestine | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | 0.0% (0 of 2) |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Main olfactory bulb | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | Not available |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Olfactory lobe | N/A | heterozygote | 0.0% (0 of 2) |
Oral epithelium | N/A | heterozygote | 0.0% (0 of 2) |
Ovary | N/A | heterozygote | Not available |
Oviduct | N/A | heterozygote | Not available |
Parathyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Parotid gland | N/A | heterozygote | 0.0% (0 of 2) |
Peripheral nervous system | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | 0.0% (0 of 2) |
Prostate gland | N/A | heterozygote | Not available |
Sciatic nerve | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Small intestine | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach pyloric region | N/A | heterozygote | 0.0% (0 of 2) |
Striatum | N/A | heterozygote | 0.0% (0 of 2) |
Sublingual gland | N/A | heterozygote | 0.0% (0 of 2) |
Submandibular gland | N/A | heterozygote | 0.0% (0 of 2) |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
Thyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Tongue | N/A | heterozygote | 0.0% (0 of 2) |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
Trigeminal V nerve | N/A | heterozygote | 0.0% (0 of 2) |
Vagina | N/A | heterozygote | Not available |
Vas deferens | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | 0.0% (0 of 2) |
Vesicular gland | N/A | heterozygote | Not available |
White adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
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% |
blood | |
bone | 0.0% |
bone marrow | |
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% |
epididymis | Unavailable |
esophagus | 0.0% |
eye | 0.0% |
gall bladder | 0.0% |
harderian gland | |
heart | 0.0% |
hindlimb | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
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 lymph node | |
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% |
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% |
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% |
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 Vps13c by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Young-Onset Parkinson Disease | Restless legs, Impulsivity, Depression, Bradykinesia, Agitation, Gait imbalance | ORPHA:2828 | |
Parkinson Disease 23, Autosomal Recessive Early-Onset | Akinesia | OMIM:616840 |
The table below shows human diseases predicted to be associated to Vps13c by phenotypic similarity.
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 Vps13c.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
ER-lysosome lipid transfer protein VPS13C/PARK23 prevents aberrant mtDNA-dependent STING signaling. | The Journal of cell biology (June 2022) | Vps13ctm1a(EUCOMM)Hmgu Vps13ctm1d(EUCOMM)Hmgu | PMC9170524 |
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 |
---|---|---|
Vps13ctm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Vps13ctm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
Vps13ctm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
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