Ptcd3 | pentatricopeptide repeat domain 3
Physiological systems
18 / 24 physiological systems tested
5 Significantly impacted by the knock-out
Homeostasis/metabolism Vision/eye Hematopoietic system Behavior/neurological Mortality/aging
13 No significant impact
6 Not tested
Data collections
Gene metrics:5Significant phenotypes
1Associated diseases
Expression examined in:48Adult tissues
25Embryo tissues
| preweaning lethality, complete penetrance | 1 supporting dataset | Ptcd3tm1.1(KOMP)Vlcg | homozygote | Early adult | N/A * | ||
| embryonic lethality prior to organogenesis | 1 supporting dataset | Ptcd3tm1.1(KOMP)Vlcg | homozygote | E9.5 | N/A * | ||
| impaired pupillary reflex | 1 supporting dataset | Ptcd3tm1.1(KOMP)Vlcg | heterozygote | Early adult | 9.23x10-10 | ||
| increased mean corpuscular hemoglobin | 1 supporting dataset | Ptcd3tm1.1(KOMP)Vlcg | heterozygote | Early adult | 1.28x10-5 | ||
| decreased circulating HDL cholesterol level | 1 supporting dataset | Ptcd3tm1.1(KOMP)Vlcg | heterozygote | Early adult | 4.17x10-6 |
| | | | | | | | | | |
| adrenal gland | heterozygote | Section images | 100% (2/2) | 0.7% (4/570) |
| aorta | heterozygote | Section images | 100% (2/2) | 0.19% (1/533) |
| brain | heterozygote | Section images | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | Section images | 100% (2/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | Section images | 100% (2/2) | 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) |
| epididymis | heterozygote | Section images | 100% (1/1) | 87.5% (21/24) |
| esophagus | heterozygote | Section images | 100% (2/2) | 1.67% (7/419) |
Human diseases caused by Ptcd3 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 Ptcd3.
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