Symbol Name ID |
Ryr1
ryanodine receptor 1, skeletal muscle MGI:99659 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Hypertelorism |
Strabismus |
Ophthalmoplegia |
External ophthalmoplegia |
Ptosis |
Bilateral ptosis |
Disease(s) Associated with RYR1 | ||||||
congenital myopathy 1A | ||||||
congenital myopathy 1B | ||||||
King Denborough syndrome |
Mouse Phenotypes | vision/eye phenotype |
abnormal extraocular muscle morphology |
|
Availability | Mouse Genotype | ||
Ryr1em2Zor/Ryr1em2Zor | |||
Ryr1em1Zor/Ryr1+ | * | ||
Ryr1em1Zor/Ryr1em2Zor | * | ||
Ryr1em2Zor/Ryr1+ |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 08/21/2024 MGI 6.24 |
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