Ryr2 | ryanodine receptor 2, cardiac
Physiological systems
20 / 24 physiological systems tested
2 Significantly impacted by the knock-out
Behavior/neurological Mortality/aging
18 No significant impact
4 Not tested
Gene metrics:2Significant phenotypes
6Associated diseases
Expression examined in:46Adult tissues
21Embryo tissues
| preweaning lethality, complete penetrance | 1 supporting dataset | Ryr2tm1b(KOMP)Wtsi | homozygote | Early adult | N/A * | ||
| increased startle reflex | 1 supporting dataset | Ryr2tm1b(KOMP)Wtsi | heterozygote | Early adult | 7.84x10-6 |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 100% (2/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 100% (2/2) | 0.19% (1/533) |
| bone | heterozygote | n/a | 0% (0/1) | 0% (0/394) |
| brain | heterozygote | n/a | 100% (2/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | 100% (2/2) | 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 | 100% (2/2) | 0.56% (3/532) |
| cerebral cortex | heterozygote | n/a | 100% (2/2) | 0.41% (2/491) |
| esophagus | heterozygote | n/a | 100% (2/2) | 1.67% (7/419) |
Human diseases caused by Ryr2 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 Ryr2.
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| Ryr2tm1(EGFP_CreERT2)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | ES Cell |
| Ryr2tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell mouse |
| Ryr2tm1b(KOMP)Wtsi | Reporter-tagged deletion allele (with selection cassette) | | mouse |
| Ryr2tm1e(KOMP)Wtsi | Targeted, non-conditional allele | | ES Cell |