Psen2 | presenilin 2
Physiological systems
22 / 24 physiological systems tested
8 Significantly impacted by the knock-out
Reproductive system Immune system Endocrine/exocrine gland Limbs/digits/tail Nervous system Vision/eye Hematopoietic system Cardiovascular system
14 No significant impact
2 Not tested
Data collections
Gene metrics:9Significant phenotypes
4Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| abnormal thymus morphology | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| abnormal retina morphology | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | 7.52x10-5 | ||
| abnormal digit morphology | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | 4.99x10-8 | ||
| abnormal heart morphology | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| enlarged thymus | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| hydrocephaly | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| increased mean corpuscular hemoglobin | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | 7.49x10-5 | ||
| abnormal brain morphology | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | N/A * | ||
| abnormal seminal vesicle morphology | 1 supporting dataset | Psen2em1(IMPC)Ccpcz | homozygote | Early adult | N/A * |
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Human diseases caused by Psen2 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 Psen2.
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| Psen2em1(IMPC)Ccpcz | Exon Deletion | | mouse |
| Psen2tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |