Ppat | phosphoribosyl pyrophosphate amidotransferase
Physiological systems
18 / 24 physiological systems tested
4 Significantly impacted by the knock-out
Vision/eye Hematopoietic system Skeleton Mortality/aging
14 No significant impact
6 Not tested
Data collections
Gene metrics:9Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| increased mean corpuscular hemoglobin concentration | 1 supporting dataset | Ppatem1(IMPC)Tcp | heterozygote | Early adult | 2.3x10-5 | ||
| cataract | 1 supporting dataset | Ppatem1(IMPC)Tcp | heterozygote | Early adult | 3.61x10-5 | ||
| abnormal lens morphology | 1 supporting dataset | Ppatem1(IMPC)Tcp | heterozygote | Early adult | 7.81x10-5 | ||
| preweaning lethality, complete penetrance | 3 supporting datasets | Ppatem1(IMPC)Tcp | homozygote | Early adult | N/A * | ||
| abnormal cornea morphology | 1 supporting dataset | Ppatem1(IMPC)Tcp | heterozygote | Early adult | 3.15x10-5 | ||
| abnormal retina morphology | 1 supporting dataset | Ppatem1(IMPC)Tcp | heterozygote | Early adult | 6.26x10-5 | ||
| abnormal sternum morphology | 1 supporting dataset | Ppatem1(IMPC)Tcp | heterozygote | Early adult | N/A * | ||
| decreased hematocrit | 1 supporting dataset | Ppatem1(IMPC)Tcp | heterozygote | Early adult | 5.36x10-5 | ||
| embryonic lethality prior to organogenesis | 1 supporting dataset | Ppatem1(IMPC)Tcp | homozygote | E9.5 | N/A * |
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Human diseases caused by Ppat 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 Ppat.
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| Ppatem1(IMPC)Tcp | Exon Deletion | | mouse |
| Ppattm2a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Ppattm2e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |