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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	Ankle flexion contracture	Congenital hip dislocation	Arthrogryposis multiplex congenita	Multiple joint contractures	Joint hypermobility	Joint stiffness	Kyphoscoliosis	Scoliosis	Spinal rigidity
Disease(s) Associated with RYR1	Ankle flexion contracture	Congenital hip dislocation	Arthrogryposis multiplex congenita	Multiple joint contractures	Joint hypermobility	Joint stiffness	Kyphoscoliosis	Scoliosis	Spinal rigidity
congenital myopathy 1A
congenital myopathy 1B

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	domed cranium	abnormal axial skeleton morphology	abnormal rib morphology	thin ribs	abnormal thoracic cage shape	abnormal spine curvature	kyphosis	delayed bone ossification
	Ryr1^m1Bei/Ryr1^m1Bei
	Ryr1^tm1.1Dhm/Ryr1^tm1.1Dhm
	Ryr1^tm1Slh/Ryr1^tm1Slh
	Ryr1^tm1Tno/Ryr1^tm1Tno
	Ryr1^tm1.1Dhm/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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