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 |
---|---|---|---|---|---|---|
preweaning lethality, incomplete penetrance | P4hbtm1b(KOMP)Wtsi | HOM | Early adult | 0.00 | ||
embryonic lethality prior to tooth bud stage | P4hbtm1b(KOMP)Wtsi | HOM | E12.5 | 0.00 | ||
embryonic growth retardation | P4hbtm1b(KOMP)Wtsi | HOM | E9.5 | 0.00 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Duodenum | Section images | heterozygote | 100% (2 of 2) |
Epididymis | Section images | heterozygote | 50% (1 of 2) |
Esophagus | Section images | heterozygote | 50% (1 of 2) |
Harderian gland | Section images | heterozygote | 100% (2 of 2) |
Ileum | Section images | heterozygote | 50% (1 of 2) |
Jejunum | Section images | heterozygote | 50% (1 of 2) |
Kidney | Section images | heterozygote | 100% (2 of 2) |
Pancreas | Section images | heterozygote | 100% (2 of 2) |
Parotid gland | Section images | heterozygote | 100% (2 of 2) |
Penis | Section images | heterozygote | 50% (1 of 2) |
Prostate gland | Section images | heterozygote | 50% (1 of 2) |
Skin | Section images | heterozygote | 100% (2 of 2) |
Spleen | Section images | heterozygote | 50% (1 of 2) |
Stomach | Section images | heterozygote | 100% (2 of 2) |
Sublingual gland | Section images | heterozygote | 50% (1 of 2) |
Submandibular gland | Section images | heterozygote | 100% (2 of 2) |
Testis | Section images | heterozygote | 50% (1 of 2) |
Tongue | Section images | heterozygote | 100% (2 of 2) |
Trachea | Section images | heterozygote | 100% (2 of 2) |
Urinary bladder | Section images | heterozygote | 50% (1 of 2) |
Uterus | Section images | heterozygote | 50% (1 of 2) |
Vagina | Section images | heterozygote | 50% (1 of 2) |
Vas deferens | Section images | heterozygote | 50% (1 of 2) |
Vesicular gland | Section 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) |
Brain | N/A | heterozygote | 0.0% (0 of 2) |
Brainstem | N/A | heterozygote | Not available |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Cartilage tissue | N/A | heterozygote | Not available |
Cecum | N/A | heterozygote | 0.0% (0 of 2) |
Cerebellum | N/A | heterozygote | 0.0% (0 of 2) |
Cerebral cortex | N/A | heterozygote | Not available |
Chest bone | N/A | heterozygote | Not available |
Colon | N/A | heterozygote | 0.0% (0 of 2) |
Diaphragm | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Gall bladder | N/A | heterozygote | Not available |
Gonadal fat pad | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | Not available |
Hindlimb | N/A | heterozygote | Not available |
Hippocampus | N/A | heterozygote | Not available |
Hypothalamus | N/A | heterozygote | Not available |
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 | Not available |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Lymph node | N/A | heterozygote | Not available |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Mesenteric adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Mesenteric lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 0.0% (0 of 2) |
Olfactory lobe | 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) |
Parathyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Peripheral nervous system | N/A | heterozygote | Not available |
Peyer's patch | N/A | heterozygote | Not available |
Pituitary gland | N/A | heterozygote | 0.0% (0 of 2) |
Quadriceps | N/A | heterozygote | 0.0% (0 of 2) |
Sciatic nerve | N/A | heterozygote | 0.0% (0 of 2) |
Skeletal muscle | N/A | heterozygote | Not available |
Small intestine | N/A | heterozygote | 100% (2 of 2) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 2) |
Stomach pyloric region | N/A | heterozygote | Not available |
Striatum | N/A | heterozygote | Not available |
Thymus | N/A | heterozygote | 0.0% (0 of 2) |
Thyroid gland | N/A | heterozygote | 0.0% (0 of 2) |
Trigeminal V nerve | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | Not available |
White adipose tissue | N/A | heterozygote | Not available |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Axial skeleton | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | heterozygote | 0.0% (0 of 2) |
Central nervous system ganglion | N/A | heterozygote | 0.0% (0 of 2) |
Ear | N/A | heterozygote | 100% (2 of 2) |
Embryo | N/A | heterozygote | 100% (2 of 2) |
Eye | N/A | heterozygote | 100% (2 of 2) |
Footplate | N/A | heterozygote | 100% (2 of 2) |
Forebrain | N/A | heterozygote | 0.0% (0 of 2) |
Forelimb | N/A | heterozygote | 0.0% (0 of 2) |
Gut | N/A | heterozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 0.0% (0 of 2) |
Head | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | 100% (2 of 2) |
Hindbrain | N/A | heterozygote | 0.0% (0 of 2) |
Hindlimb | N/A | heterozygote | 100% (2 of 2) |
Liver | N/A | heterozygote | 100% (2 of 2) |
Lung | N/A | heterozygote | 100% (2 of 2) |
Mandibular process | N/A | heterozygote | 0.0% (0 of 2) |
Maxillary process | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 0.0% (0 of 2) |
Nose | N/A | heterozygote | 0.0% (0 of 2) |
Oral cavity | N/A | heterozygote | 0.0% (0 of 2) |
Chorioallantoic placenta | N/A | heterozygote | 100% (2 of 2) |
Skeleton | N/A | heterozygote | 100% (2 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 0.0% (0 of 2) |
Tail somite | N/A | heterozygote | 100% (2 of 2) |
Tail | N/A | heterozygote | 0.0% (0 of 2) |
Trachea | N/A | heterozygote | Ambiguous |
Urinary system | N/A | heterozygote | 100% (2 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 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 | |
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% |
mammary gland | 0.0% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | |
midbrain | 0.0% |
olfactory lobe | 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% |
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) |
---|---|
axial skeleton | Ambiguous |
brain | 0.0% |
central nervous system ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
eye | 0.0% |
footplate | 0.0% |
forebrain | 0.0% |
forelimb | 0.0% |
gut | Ambiguous |
handplate | 0.0% |
head | 0.0% |
heart | 0.0% |
hindbrain | 0.0% |
hindlimb | 0.0% |
liver | 0.0% |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
midbrain | 0.0% |
nose | Ambiguous |
oral cavity | 0.0% |
placenta | Ambiguous |
skeleton | Ambiguous |
skin | 0.0% |
spinal cord | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
trachea | Ambiguous |
urinary system | 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 P4hb by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cole-Carpenter Syndrome | Intrauterine growth retardation, Short stature | ORPHA:2050 | |
Cole-Carpenter Syndrome 1 | Short stature | OMIM:112240 |
The table below shows human diseases predicted to be associated to P4hb by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Cole-Carpenter Syndrome | Intrauterine growth retardation, Short stature | ORPHA:2050 | |
Cole-Carpenter Syndrome 1 | Short stature | OMIM:112240 |
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MGI Allele | Allele Type | Produced |
---|---|---|
P4hbtm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
P4hbtm119336(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
P4hbtm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice, Tissue |
P4hbtm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
P4hbtm2e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
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