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Symbol
Name
ID

Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659

Phenotype annotations related to muscle

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Abnormality of masseter muscle

Weakness of facial musculature

Facial palsy

Ankle flexion contracture

Rectus femoris muscle atrophy

Proximal muscle weakness in upper limbs

Proximal muscle weakness in lower limbs

Pelvic girdle muscle weakness

Arthrogryposis multiplex congenita

Multiple joint contractures

Hypotonia

Generalized hypotonia

Neonatal hypotonia

EMG abnormality

Difficulty running

Easy fatigability

Intermittent painful muscle spasms

Muscle stiffness

Muscle weakness

Axial muscle weakness

Distal muscle weakness

Generalized muscle weakness

Proximal muscle weakness

Respiratory insufficiency due to muscle weakness

Abnormal muscle fiber morphology

Type 1 muscle fiber predominance

Increased variability in muscle fiber diameter

Central core regions in muscle fibers

Centrally nucleated skeletal muscle fibers

Nemaline bodies

Skeletal muscle atrophy

Muscular dystrophy

Myopathy

Minicore myopathy

Type 1 and type 2 muscle fiber minicore regions

Necrotizing myopathy

Acute rhabdomyolysis

Exercise-induced rhabdomyolysis

Disease(s) Associated with RYR1

congenital myopathy 1A

congenital myopathy 1B

malignant hyperthermia

primary pulmonary hypertension

Mouse Phenotypes

muscle phenotype

abnormal soleus morphology

abnormal muscle development

abnormal muscle fiber morphology

abnormal sarcomere morphology

abnormal Z line morphology

abnormal sarcoplasmic reticulum morphology

abnormal skeletal muscle fiber morphology

decreased skeletal muscle fiber size

decreased skeletal muscle fiber diameter

increased variability of skeletal muscle fiber size

centrally nucleated skeletal muscle fibers

decreased skeletal muscle fiber number

abnormal skeletal muscle morphology

abnormal diaphragm morphology

decreased skeletal muscle mass

skeletal muscle degeneration

abnormal muscle physiology

abnormal muscle contractility

impaired muscle contractility

impaired skeletal muscle contractility

abnormal muscle electrophysiology

impaired muscle relaxation

muscle twitch

muscle tetany

muscle weakness

myopathy

Availability

Mouse Genotype

Ryr1^m1Bei/Ryr1^m1Bei

Ryr1^tm1.1Dhm/Ryr1^tm1.1Dhm

Ryr1^tm1.1Inp/Ryr1^tm1.1Inp

Ryr1^tm1.1Msnr/Ryr1^tm1.1Msnr

Ryr1^tm1Slh/Ryr1^tm1Slh

Ryr1^tm1Tno/Ryr1^tm1Tno

Ryr1^tm3.1Alle/Ryr1^tm3.1Alle

Ryr1^em1Tmur/Ryr1⁺

Ryr1^m1Nisw/Ryr1⁺

Ryr1^tm1.1Dhm/Ryr1⁺

Ryr1^tm1.1Inp/Ryr1⁺

Ryr1^tm1Slh/Ryr1⁺

Ryr1^tm3.1Alle/Ryr1⁺

Ryr1^tm1.1Itl/?

Ryr1^tm2.1Itl/?

*

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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