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 |
---|---|---|---|---|---|---|
decreased bone mineral density | Cers5tm2b(KOMP)Mbp | HOM | Early adult | 9.05×10-08 | ||
decreased bone mineral content | Cers5tm2b(KOMP)Mbp | HOM | Early adult | 1.04×10-08 | ||
abnormal motor coordination/balance | Cers5tm2b(KOMP)Mbp | HOM | Early adult | 2.34×10-05 | ||
decreased exploration in new environment | Cers5tm2b(KOMP)Mbp | HOM | Early adult | 5.39×10-08 | ||
abnormal bone structure | Cers5tm2b(KOMP)Mbp | HOM | Early adult | 1.11×10-11 | ||
increased circulating sodium level | Cers5tm2b(KOMP)Mbp | HOM | Early adult | 2.87×10-05 | ||
decreased thigmotaxis | Cers5tm2b(KOMP)Mbp | HOM | Early adult | 5.01×10-05 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Section images | heterozygote | 100% (2 of 2) |
Aorta | Section images | heterozygote | 100% (2 of 2) |
Brain | Section images | heterozygote | 100% (2 of 2) |
Brainstem | Section images | heterozygote | 100% (2 of 2) |
Cartilage tissue | Section images | heterozygote | 100% (2 of 2) |
Cerebellum | Section images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Section images | heterozygote | 100% (2 of 2) |
Epididymis | Section images | heterozygote | 50% (1 of 2) |
Esophagus | Section images | heterozygote | 100% (2 of 2) |
Eye | Section images | heterozygote | 100% (2 of 2) |
Heart | Section images | heterozygote | 100% (2 of 2) |
Hippocampus | Section images | heterozygote | 100% (2 of 2) |
Hypothalamus | Section images | heterozygote | 100% (2 of 2) |
Kidney | Section images | heterozygote | 100% (2 of 2) |
Large intestine | Section images | heterozygote | 100% (2 of 2) |
Liver | Section images | heterozygote | 0.0% (0 of 2) |
Lung | Section images | heterozygote | 100% (2 of 2) |
Midbrain | Section images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Section images | heterozygote | 100% (2 of 2) |
Ovary | Section images | heterozygote | 50% (1 of 2) |
Oviduct | Section images | heterozygote | 50% (1 of 2) |
Peripheral nervous system | Section images | heterozygote | 100% (2 of 2) |
Pituitary gland | Section images | heterozygote | 100% (2 of 2) |
Skin | Section images | heterozygote | 100% (2 of 2) |
Small intestine | Section images | heterozygote | 100% (2 of 2) |
Spinal cord | Section images | heterozygote | 100% (2 of 2) |
Stomach | Section images | heterozygote | 100% (2 of 2) |
Striatum | Section images | heterozygote | 100% (2 of 2) |
Testis | Section images | heterozygote | 50% (1 of 2) |
Thalamus | Section images | heterozygote | 100% (2 of 2) |
Trachea | Section images | heterozygote | 100% (2 of 2) |
Urinary bladder | Section images | heterozygote | 100% (2 of 2) |
Uterus | Section images | heterozygote | 50% (1 of 2) |
Vascular system | Section images | heterozygote | 100% (2 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | Not available |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Pancreas | 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 |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | 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) |
Vesicular gland | N/A | heterozygote | Not available |
White adipose tissue | N/A | heterozygote | 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% (1 of 1) |
Embryo | N/A | homozygote | Ambiguous |
Brain | N/A | heterozygote | 100% (1 of 1) |
Brain | N/A | homozygote | Ambiguous |
Ear | N/A | heterozygote | 0.0% (0 of 1) |
Ear | N/A | homozygote | Ambiguous |
Eye | N/A | heterozygote | 100% (1 of 1) |
Eye | N/A | homozygote | Ambiguous |
Footplate | N/A | heterozygote | 100% (1 of 1) |
Footplate | N/A | homozygote | Ambiguous |
Forebrain | N/A | heterozygote | Ambiguous |
Forebrain | N/A | homozygote | Ambiguous |
Forelimb | N/A | heterozygote | 100% (1 of 1) |
Forelimb | N/A | homozygote | Ambiguous |
Handplate | N/A | heterozygote | 100% (1 of 1) |
Handplate | N/A | homozygote | Ambiguous |
Head | N/A | heterozygote | 100% (1 of 1) |
Head | N/A | homozygote | Ambiguous |
Heart | N/A | heterozygote | 100% (1 of 1) |
Heart | N/A | homozygote | Ambiguous |
Hindbrain | N/A | heterozygote | 100% (1 of 1) |
Hindbrain | N/A | homozygote | Ambiguous |
Hindlimb | N/A | heterozygote | 100% (1 of 1) |
Hindlimb | N/A | homozygote | Ambiguous |
Liver | N/A | heterozygote | Ambiguous |
Liver | N/A | homozygote | Ambiguous |
Lung | N/A | heterozygote | Ambiguous |
Lung | N/A | homozygote | Ambiguous |
Mandibular process | N/A | heterozygote | 100% (1 of 1) |
Mandibular process | N/A | homozygote | Ambiguous |
Maxillary process | N/A | heterozygote | 100% (1 of 1) |
Maxillary process | N/A | homozygote | Ambiguous |
Midbrain | N/A | heterozygote | Ambiguous |
Midbrain | N/A | homozygote | Ambiguous |
Oral cavity | N/A | heterozygote | 100% (1 of 1) |
Oral cavity | N/A | homozygote | Ambiguous |
Skin | N/A | heterozygote | 100% (1 of 1) |
Skin | N/A | homozygote | Ambiguous |
Tail somite | N/A | heterozygote | 0.0% (0 of 1) |
Tail somite | N/A | homozygote | Ambiguous |
Tail | N/A | heterozygote | 100% (1 of 1) |
Tail | N/A | homozygote | Ambiguous |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.67% (4 of 598) |
aorta | 0.17% (1 of 598) |
brain | 0.84% (5 of 598) |
brainstem | 0.33% (2 of 598) |
brown adipose tissue | 0.0% |
cartilage tissue | 0.17% (1 of 598) |
cerebellum | 0.5% (3 of 598) |
cerebral cortex | 0.33% (2 of 598) |
epididymis | 14.29% (21 of 147) |
esophagus | 1.66% (7 of 422) |
eye | 0.0% |
heart | 0.33% (2 of 598) |
hippocampus | 0.5% (3 of 598) |
hypothalamus | 0.33% (2 of 598) |
kidney | 4.52% (27 of 598) |
large intestine | 5.35% (32 of 598) |
liver | 0.0% |
lower urinary tract | 0.17% (1 of 598) |
lung | 0.33% (2 of 598) |
lymph node | 0.17% (1 of 598) |
mammary gland | 0.0% |
midbrain | 0.0% |
olfactory lobe | 0.33% (2 of 598) |
ovary | 0.17% (1 of 598) |
oviduct | 0.0% |
pancreas | 0.84% (5 of 598) |
peripheral nervous system | 0.33% (2 of 598) |
peyers patch | 0.0% |
pituitary gland | 0.17% (1 of 598) |
prostate gland | 2.17% (13 of 598) |
skeletal muscle | 0.0% |
skin | 0.17% (1 of 598) |
small intestine | 5.35% (32 of 598) |
spinal cord | 0.5% (3 of 598) |
spleen | 0.5% (3 of 598) |
stomach | 3.68% (22 of 598) |
striatum | 0.5% (3 of 598) |
submandibular gland | 1.38% (2 of 145) |
testis | 1% (6 of 598) |
thalamus | 0.0% |
thymus | 0.17% (1 of 598) |
thyroid gland | 3.01% (18 of 598) |
trachea | 0.5% (3 of 598) |
urinary bladder | 0.0% |
uterus | 0.33% (2 of 598) |
vascular system | 0.0% |
vesicular gland | 0.0% |
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 | 1.17% (6 of 511) |
ear | 0.2% (1 of 511) |
embryo | 0.39% (2 of 512) |
eye | 0.2% (1 of 511) |
footplate | 0.2% (1 of 511) |
forebrain | 0.2% (1 of 511) |
forelimb | 0.2% (1 of 511) |
handplate | 0.2% (1 of 511) |
head | 0.98% (5 of 511) |
heart | 0.2% (1 of 511) |
hindbrain | 1.17% (6 of 511) |
hindlimb | 0.2% (1 of 511) |
liver | 0.2% (1 of 506) |
lung | 0.2% (1 of 506) |
mandibular process | 0.2% (1 of 511) |
maxillary process | 0.2% (1 of 511) |
midbrain | 0.2% (1 of 511) |
oral cavity | 0.2% (1 of 506) |
skin | 0.2% (1 of 511) |
tail | 0.2% (1 of 511) |
tail somite group | 0.2% (1 of 511) |
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 predicted to be associated to Cers5 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 Cers5.
There are 2 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Generation of a ceramide synthase 6 mouse lacking the DDRSDIE C-terminal motif. | PloS one (July 2022) | Cers5tm2b(KOMP)Mbp | PMC9292091 |
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. | PloS one (July 2017) | Cers5tm2b(KOMP)Mbp | PMC5503261 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Cers5tm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Cers5tm2a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Cers5tm2e(KOMP)Mbp | Targeted, non-conditional allele | ES Cells |
Cers5tm2b(KOMP)Mbp | Reporter-tagged deletion allele (with selection cassette) | Mice |
Cers5tm1e(KOMP)Mbp | Targeted, non-conditional allele | ES Cells |
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