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Symbol
Name
ID

Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes	Ankle flexion contracture	Pes planus	Talipes	Talipes equinovarus	Congenital hip dislocation	Rectus femoris muscle atrophy	Pedal edema	Proximal muscle weakness in upper limbs	Proximal muscle weakness in lower limbs	Pelvic girdle muscle weakness
Disease(s) Associated with RYR1	Ankle flexion contracture	Pes planus	Talipes	Talipes equinovarus	Congenital hip dislocation	Rectus femoris muscle atrophy	Pedal edema	Proximal muscle weakness in upper limbs	Proximal muscle weakness in lower limbs	Pelvic girdle muscle weakness
congenital myopathy 1A
congenital myopathy 1B
primary pulmonary hypertension

Mouse Phenotypes		abnormal limb morphology	abnormal soleus morphology
Availability	Mouse Genotype	abnormal limb morphology	abnormal soleus morphology
	Ryr1^tm1.1Inp/Ryr1^tm1.1Inp
	Ryr1^tm1Tno/Ryr1^tm1Tno

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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