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 |
---|---|---|---|---|---|---|
embryonic lethality prior to tooth bud stage | Pi4katm1b(EUCOMM)Wtsi | HOM | E12.5 | 0.00 | ||
preweaning lethality, complete penetrance | Pi4katm1b(EUCOMM)Wtsi | HOM | Early adult | 0.00 | ||
embryonic lethality prior to organogenesis | Pi4katm1b(EUCOMM)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 |
---|---|---|---|
Adrenal gland | Section images | heterozygote | 100% (2 of 2) |
Aorta | Section images | heterozygote | 50% (1 of 2) |
Cerebellum | Section images | heterozygote | 100% (2 of 2) |
Colon | 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) |
Kidney | Section images | heterozygote | 100% (2 of 2) |
Midbrain | Section images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Section images | heterozygote | 50% (1 of 2) |
Penis | Section images | heterozygote | 50% (1 of 2) |
Skin | Section images | heterozygote | 50% (1 of 2) |
Spinal cord | Section images | heterozygote | 100% (2 of 2) |
Stomach | Section images | heterozygote | 50% (1 of 2) |
Testis | Section images | heterozygote | 50% (1 of 2) |
Trigeminal V nerve | Section images | heterozygote | 50% (1 of 2) |
Urinary bladder | Section images | heterozygote | 100% (2 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 | 100% (2 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) |
Cerebral cortex | N/A | heterozygote | Not available |
Chest bone | N/A | heterozygote | Not available |
Diaphragm | N/A | heterozygote | 0.0% (0 of 2) |
Duodenum | 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 |
Jejunum | N/A | heterozygote | 0.0% (0 of 2) |
Large intestine | N/A | heterozygote | 100% (2 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) |
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) |
Parotid 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) |
Prostate gland | N/A | heterozygote | Not available |
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 | 50% (1 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Stomach pyloric region | N/A | heterozygote | Not available |
Striatum | N/A | heterozygote | Not available |
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) |
Uterus | N/A | heterozygote | 0.0% (0 of 2) |
Vagina | N/A | heterozygote | 0.0% (0 of 2) |
Vas deferens | N/A | heterozygote | 0.0% (0 of 2) |
Vascular system | N/A | heterozygote | Not available |
Vesicular gland | N/A | heterozygote | 0.0% (0 of 2) |
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 | 0.0% (0 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 | 0.0% (0 of 2) |
Embryo | N/A | heterozygote | 0.0% (0 of 2) |
Eye | N/A | heterozygote | 0.0% (0 of 2) |
Footplate | N/A | heterozygote | 0.0% (0 of 2) |
Forebrain | N/A | heterozygote | 0.0% (0 of 2) |
Forelimb | N/A | heterozygote | 0.0% (0 of 2) |
Gut | N/A | heterozygote | 0.0% (0 of 2) |
Handplate | N/A | heterozygote | 0.0% (0 of 2) |
Head | N/A | heterozygote | 0.0% (0 of 2) |
Heart | N/A | heterozygote | 0.0% (0 of 2) |
Hindbrain | N/A | heterozygote | 0.0% (0 of 2) |
Hindlimb | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Lung | N/A | heterozygote | 0.0% (0 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) |
Skeleton | N/A | heterozygote | 0.0% (0 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 | 0.0% (0 of 2) |
Tail | N/A | heterozygote | 0.0% (0 of 2) |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
Urinary system | 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 | 0.7% (4 of 575) |
aorta | 0.0% |
blood | 0.0% |
bone marrow | 0.0% |
brain | 0.87% (5 of 577) |
brainstem | 0.35% (2 of 579) |
brown adipose tissue | 0.0% |
cartilage tissue | 0.17% (1 of 579) |
cecum | 5.88% (22 of 374) |
cerebellum | 0.52% (3 of 581) |
cerebral cortex | 0.35% (2 of 574) |
chest bone | Unavailable |
colon | 15.44% (21 of 136) |
diaphragm | 0.0% |
duodenum | 2.99% (4 of 134) |
epididymis | 13.79% (20 of 145) |
esophagus | 1.73% (7 of 404) |
eye | 0.0% |
gall bladder | 0.0% |
gonadal fat pad | 0.0% |
harderian gland | 0.73% (1 of 137) |
heart | 0.35% (2 of 571) |
hindlimb | 0.0% |
hippocampus | 0.34% (2 of 586) |
hypothalamus | 0.35% (2 of 577) |
ileum | 14.71% (20 of 136) |
jejunum | 8.82% (12 of 136) |
kidney | 4.66% (27 of 580) |
large intestine | 5.15% (30 of 583) |
liver | 0.0% |
lower urinary tract | 0.17% (1 of 583) |
lung | 0.34% (2 of 588) |
lymph node | 0.17% (1 of 587) |
mammary gland | 0.0% |
mesenteric adipose tissue | 0.0% |
mesenteric lymph node | 0.32% (1 of 312) |
midbrain | 0.0% |
olfactory lobe | 0.17% (1 of 579) |
ovary | 0.17% (1 of 576) |
oviduct | 0.0% |
pancreas | 0.87% (5 of 578) |
parathyroid gland | 0.18% (1 of 558) |
parotid gland | 0.0% |
penis | 0.0% |
peripheral nervous system | 0.34% (2 of 580) |
peyers patch | 0.0% |
pituitary gland | 0.17% (1 of 576) |
prostate gland | 1.89% (11 of 583) |
quadriceps | 0.0% |
sciatic nerve | 0.0% |
skeletal muscle | 0.0% |
skin | 0.17% (1 of 577) |
small intestine | 5.34% (31 of 581) |
spinal cord | 0.52% (3 of 576) |
spleen | 0.52% (3 of 581) |
stomach | 3.61% (21 of 582) |
stomach pyloric region | 0.0% |
striatum | 0.52% (3 of 582) |
sublingual gland | 0.0% |
submandibular gland | 1.43% (2 of 140) |
testis | 1.03% (6 of 584) |
thymus | 0.17% (1 of 582) |
thyroid gland | 3.1% (18 of 581) |
tongue | 3.62% (5 of 138) |
trachea | 0.34% (2 of 589) |
trigeminal v nerve | 0.0% |
urinary bladder | 0.0% |
uterus | 0.35% (2 of 579) |
vagina | 0.0% |
vas deferens | 4.45% (17 of 382) |
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) |
---|---|
axial skeleton | 1.56% (1 of 64) |
brain | 1.17% (6 of 511) |
central nervous system ganglion | 1.37% (1 of 73) |
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) |
gut | 1.69% (1 of 59) |
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) |
nose | 1.28% (1 of 78) |
oral cavity | 0.2% (1 of 506) |
skeleton | 1.28% (1 of 78) |
skin | 0.2% (1 of 511) |
spinal cord | 1.39% (1 of 72) |
tail | 0.2% (1 of 511) |
tail somite group | 0.2% (1 of 511) |
trachea | 1.69% (1 of 59) |
urinary system | 1.69% (1 of 59) |
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 Pi4ka by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Gastrointestinal Defects And Immunodeficiency Syndrome 2 | Lymphopenia | OMIM:619708 | |
Combined Immunodeficiency-Enteropathy Spectrum | Hypoplasia of the thymus, Peritoneal abscess, Autoimmune hemolytic anemia, Rectal abscess | ORPHA:436252 | |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities | OMIM:616531 | ||
Bilateral Perisylvian Polymicrogyria | ORPHA:98889 | ||
Spastic Paraplegia 84, Autosomal Recessive | OMIM:619621 |
The table below shows human diseases predicted to be associated to Pi4ka by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
Pi4katm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Pi4katm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Pi4katm1b(EUCOMM)Wtsi | Reporter-tagged deletion allele (with selection cassette) | Mice |
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