Pmpca | peptidase (mitochondrial processing) alpha
Physiological systems
18 / 24 physiological systems tested
4 Significantly impacted by the knock-out
Homeostasis/metabolism Integument Behavior/neurological Mortality/aging
14 No significant impact
6 Not tested
Data collections
Gene metrics:5Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| abnormal vocalization | 1 supporting dataset | Pmpcaem1(IMPC)J | heterozygote | Early adult | 2.42x10-10 | ||
| embryonic lethality prior to organogenesis | 1 supporting dataset | Pmpcaem1(IMPC)J | homozygote | E9.5 | N/A * | ||
| absent vibrissae | 1 supporting dataset | Pmpcaem1(IMPC)J | heterozygote | Early adult | 1.67x10-5 | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Pmpcaem1(IMPC)J | homozygote | Early adult | N/A * | ||
| increased circulating calcium level | 1 supporting dataset | Pmpcaem1(IMPC)J | heterozygote | Early adult | 2.58x10-5 |
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Human diseases caused by Pmpca 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 Pmpca.
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| Pmpcaem1(IMPC)J | Exon Deletion | | mouse |
| Pmpcatm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Pmpcatm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |
| Pmpcatm2a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Pmpcatm2e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES Cell |