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Symbol
Name
ID
Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Flexion contracture
Limb joint contracture
Congenital hip dislocation
Lumbar hyperlordosis
Kyphoscoliosis
Scoliosis
Disease(s) Associated with RYR1
central core myopathy
congenital fiber-type disproportion

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+

Contributing Projects:
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
11/05/2019
MGI 6.14
The Jackson Laboratory