Symbol Name ID |
Ryr1
ryanodine receptor 1, skeletal muscle MGI:99659 |
Darker colors indicate more annotations |
Human Phenotypes | Scaphocephaly |
Short neck |
Ankle flexion contracture |
Congenital hip dislocation |
Arthrogryposis multiplex congenita |
Multiple joint contractures |
Joint hypermobility |
Joint stiffness |
Thoracic kyphosis |
Lumbar hyperlordosis |
Kyphoscoliosis |
Scoliosis |
Spinal rigidity |
Disease(s) Associated with RYR1 | |||||||||||||
congenital myopathy 1A | |||||||||||||
congenital myopathy 1B | |||||||||||||
King Denborough syndrome |
Mouse Phenotypes | domed cranium |
abnormal axial skeleton morphology |
abnormal rib morphology |
thin ribs |
abnormal thoracic cage shape |
abnormal spine curvature |
kyphosis |
delayed bone ossification |
|
Availability | Mouse Genotype | ||||||||
Ryr1m1Bei/Ryr1m1Bei | |||||||||
Ryr1tm1.1Dhm/Ryr1tm1.1Dhm | |||||||||
Ryr1tm1Slh/Ryr1tm1Slh | |||||||||
Ryr1tm1Tno/Ryr1tm1Tno | |||||||||
Ryr1tm1.1Dhm/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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