Aasdhppt | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Physiological systems
18 / 24 physiological systems tested
5 Significantly impacted by the knock-out
Homeostasis/metabolism Pigmentation Vision/eye Behavior/neurological Mortality/aging
13 No significant impact
6 Not tested
Data collections
Gene metrics:5Significant phenotypes
0Associated diseases
Expression examined in:48Adult tissues
25Embryo tissues
| embryonic lethality prior to organogenesis | 1 supporting dataset | Aasdhppttm1.1(KOMP)Vlcg | homozygote | E9.5 | N/A * | ||
| abnormal iris pigmentation | 1 supporting dataset | Aasdhppttm1.1(KOMP)Vlcg | heterozygote | Early adult | 5.2x10-9 | ||
| improved glucose tolerance | 2 supporting datasets | Aasdhppttm1.1(KOMP)Vlcg | heterozygote | Early adult | 2.27x10-9 | ||
| decreased grip strength | 2 supporting datasets | Aasdhppttm1.1(KOMP)Vlcg | heterozygote | Early adult | 1.21x10-5 | ||
| preweaning lethality, complete penetrance | 1 supporting dataset | Aasdhppttm1.1(KOMP)Vlcg | homozygote | Early adult | N/A * |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 0% (0/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/2) | 0.19% (1/533) |
| brain | heterozygote | n/a | 0% (0/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | 0% (0/2) | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | 0% (0/2) | 0.22% (1/454) |
| cerebellum | heterozygote | n/a | 0% (0/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | n/a | 0% (0/2) | 0.41% (2/491) |
| epididymis | heterozygote | Section images | 100% (1/1) | 87.5% (21/24) |
| esophagus | heterozygote | n/a | 0% (0/2) | 1.67% (7/419) |
Human diseases caused by Aasdhppt 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 Aasdhppt.
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