Pip5k1c | phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma
Physiological systems
21 / 24 physiological systems tested
4 Significantly impacted by the knock-out
Homeostasis/metabolism Vision/eye Behavior/neurological Mortality/aging
17 No significant impact
3 Not tested
Gene metrics:5Significant phenotypes
2Associated diseases
Expression examined in:55Adult tissues
50Embryo tissues
| preweaning lethality, complete penetrance | 1 supporting dataset | Pip5k1ctm1b(KOMP)Wtsi | homozygote | Early adult | N/A * | ||
| increased circulating alkaline phosphatase level | 1 supporting dataset | Pip5k1ctm1b(KOMP)Wtsi | heterozygote | Early adult | 4.11x10-7 | ||
| edema | 1 supporting dataset | Pip5k1ctm1b(KOMP)Wtsi | homozygote | E18.5 | N/A * | ||
| persistence of hyaloid vascular system | 1 supporting dataset | Pip5k1ctm1b(KOMP)Wtsi | heterozygote | Early adult | 1.02x10-5 | ||
| decreased grip strength | 1 supporting dataset | Pip5k1ctm1b(KOMP)Wtsi | heterozygote | Early adult | 4.02x10-5 |
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| adrenal gland | heterozygote | Section images | 50% (2/4) | 0.7% (4/570) |
| aorta | heterozygote | Section images | 100% (2/2) | 0.19% (1/533) |
| blood vessel | heterozygote | n/a | 0% (0/2) | 0% (0/173) |
| bone | heterozygote | n/a | 0% (0/2) | 0% (0/394) |
| brain | heterozygote | Section images | 100% (4/4) | 0.86% (5/579) |
| brainstem | heterozygote | Section images | 100% (2/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/4) | 0% (0/588) |
| cartilage tissue | heterozygote | Section images | 50% (2/4) | 0.22% (1/454) |
| cerebellum | heterozygote | Section images | 100% (2/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | Section images | 100% (2/2) | 0.41% (2/491) |
Human diseases caused by Pip5k1c mutations
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.
External links
No external links available for Pip5k1c.
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| Pip5k1ctm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Pip5k1ctm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |