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 mean corpuscular hemoglobin concentration | Ccdc50tm1b(EUCOMM)Hmgu | HOM | Late adult | 4.11×10-06 | ||
increased grip strength | Ccdc50tm1b(EUCOMM)Hmgu | HOM | Early adult | 5.87×10-07 | ||
increased circulating alkaline phosphatase level | Ccdc50tm1b(EUCOMM)Hmgu | HOM | Early adult | 3.41×10-05 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Brain | Wholemount images | heterozygote | 50% (1 of 2) |
Kidney | Wholemount images | heterozygote | 100% (2 of 2) |
Testis | 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) |
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) |
Cerebellum | N/A | heterozygote | 0.0% (0 of 2) |
Cerebral cortex | N/A | heterozygote | 0.0% (0 of 2) |
Esophagus | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Gall bladder | N/A | heterozygote | 0.0% (0 of 2) |
Heart | 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) |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | 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 | 0.0% (0 of 2) |
Oviduct | N/A | heterozygote | 0.0% (0 of 2) |
Pancreas | N/A | heterozygote | 0.0% (0 of 2) |
Parathyroid 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) |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 2) |
Prostate gland | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Small intestine | N/A | heterozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach | N/A | heterozygote | 0.0% (0 of 2) |
Striatum | 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) |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
Uterus | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | 0.0% (0 of 2) |
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 |
---|---|---|---|
Brain | N/A | heterozygote | 0.0% (0 of 1) |
Brain | N/A | homozygote | 0.0% (0 of 1) |
Ear | N/A | heterozygote | Not available |
Ear | N/A | homozygote | Not available |
Embryo | N/A | heterozygote | 0.0% (0 of 1) |
Embryo | N/A | homozygote | 0.0% (0 of 1) |
Eye | N/A | heterozygote | 0.0% (0 of 1) |
Eye | N/A | homozygote | 0.0% (0 of 1) |
Footplate | N/A | heterozygote | 0.0% (0 of 1) |
Footplate | N/A | homozygote | 0.0% (0 of 1) |
Forebrain | N/A | heterozygote | 0.0% (0 of 1) |
Forebrain | N/A | homozygote | 0.0% (0 of 1) |
Forelimb | N/A | heterozygote | 0.0% (0 of 1) |
Forelimb | N/A | homozygote | 0.0% (0 of 1) |
Handplate | N/A | heterozygote | 0.0% (0 of 1) |
Handplate | N/A | homozygote | 0.0% (0 of 1) |
Head | N/A | heterozygote | 0.0% (0 of 1) |
Head | N/A | homozygote | 0.0% (0 of 1) |
Heart | N/A | heterozygote | 0.0% (0 of 1) |
Heart | N/A | homozygote | Not available |
Hindbrain | N/A | heterozygote | 0.0% (0 of 1) |
Hindbrain | N/A | homozygote | 0.0% (0 of 1) |
Hindlimb | N/A | heterozygote | 0.0% (0 of 1) |
Hindlimb | N/A | homozygote | 0.0% (0 of 1) |
Liver | N/A | heterozygote | Not available |
Liver | N/A | homozygote | Not available |
Lung | N/A | heterozygote | Not available |
Lung | N/A | homozygote | 0.0% (0 of 1) |
Mandibular process | N/A | heterozygote | Not available |
Mandibular process | N/A | homozygote | 0.0% (0 of 1) |
Maxillary process | N/A | heterozygote | 0.0% (0 of 1) |
Maxillary process | N/A | homozygote | Not available |
Midbrain | N/A | heterozygote | 0.0% (0 of 1) |
Midbrain | N/A | homozygote | 0.0% (0 of 1) |
Oral cavity | N/A | heterozygote | Not available |
Oral cavity | N/A | homozygote | Not available |
Skin | N/A | heterozygote | Not available |
Skin | N/A | homozygote | Not available |
Tail somite | N/A | heterozygote | Not available |
Tail somite | N/A | homozygote | Not available |
Tail | N/A | heterozygote | 0.0% (0 of 1) |
Tail | N/A | homozygote | 0.0% (0 of 1) |
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) |
bone | 0.0% |
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) |
esophagus | 1.66% (7 of 422) |
eye | 0.0% |
gall bladder | 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% |
olfactory lobe | 0.33% (2 of 598) |
oral epithelium | 0.0% |
ovary | 0.17% (1 of 598) |
oviduct | 0.0% |
pancreas | 0.84% (5 of 598) |
parathyroid gland | 0.17% (1 of 576) |
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) |
testis | 1% (6 of 598) |
thymus | 0.17% (1 of 598) |
thyroid gland | 3.01% (18 of 598) |
trachea | 0.5% (3 of 598) |
uterus | 0.33% (2 of 598) |
vascular system | 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 | 1.36% (6 of 440) |
ear | 0.0% |
embryo | 0.22% (1 of 458) |
eye | 0.22% (1 of 457) |
footplate | 0.21% (1 of 466) |
forebrain | 0.22% (1 of 455) |
forelimb | 0.22% (1 of 452) |
handplate | 0.22% (1 of 460) |
head | 0.87% (4 of 461) |
heart | 0.22% (1 of 455) |
hindbrain | 1.08% (5 of 463) |
hindlimb | 0.0% |
liver | 0.22% (1 of 454) |
lung | 0.22% (1 of 453) |
mandibular process | 0.0% |
maxillary process | 0.22% (1 of 445) |
midbrain | 0.22% (1 of 458) |
oral cavity | 0.22% (1 of 451) |
skin | 0.22% (1 of 458) |
tail | 0.22% (1 of 465) |
tail somite group | 0.22% (1 of 455) |
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 Ccdc50 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Deafness, Autosomal Dominant 44 | OMIM:607453 |
The table below shows human diseases predicted to be associated to Ccdc50 by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
Ccdc50tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Ccdc50tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Ccdc50tm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | Mice |
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