Pdhx | pyruvate dehydrogenase complex, component X
Physiological systems
19 / 24 physiological systems tested
3 Significantly impacted by the knock-out
Vision/eye Cardiovascular system Mortality/aging
16 No significant impact
5 Not tested
Data collections
Gene metrics:9Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| persistence of hyaloid vascular system | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | heterozygote | Early adult | 1.52x10-15 | ||
| abnormal retina blood vessel morphology | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | heterozygote | Early adult | 2.89x10-8 | ||
| cataract | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | heterozygote | Early adult | 7.4x10-5 | ||
| abnormal retina vasculature morphology | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | heterozygote | Early adult | 3.46x10-9 | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | homozygote | Early adult | N/A * | ||
| abnormal vitreous body morphology | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | heterozygote | Early adult | 2.17x10-5 | ||
| abnormal retina morphology | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | heterozygote | Early adult | 9.09x10-8 | ||
| decreased total retina thickness | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | heterozygote | Early adult | 4.1x10-6 | ||
| abnormal lens morphology | 1 supporting dataset | Pdhxtm1b(EUCOMM)Hmgu | heterozygote | Early adult | 3.89x10-5 |
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Human diseases caused by Pdhx 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 Pdhx.
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| Pdhxtm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Pdhxtm1b(EUCOMM)Hmgu | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Pdhxtm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |