Symbol
Name
ID

Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes	Pedal edema	Hyperkalemia	Hyperphosphatemia	Abnormal circulating creatine kinase concentration	Elevated circulating creatine kinase concentration	Elevated creatine kinase after exercise	Metabolic acidosis	Hydrops fetalis	Fever	Malignant hyperthermia	Myoglobinuria
Disease(s) Associated with RYR1	Pedal edema	Hyperkalemia	Hyperphosphatemia	Abnormal circulating creatine kinase concentration	Elevated circulating creatine kinase concentration	Elevated creatine kinase after exercise	Metabolic acidosis	Hydrops fetalis	Fever	Malignant hyperthermia	Myoglobinuria
congenital myopathy 1A
congenital myopathy 1B
malignant hyperthermia
primary pulmonary hypertension

Mouse Phenotypes

increased susceptibility to malignant hyperthermia

acidemia

increased circulating potassium level

cyanosis

increased core body temperature

abnormal body temperature homeostasis

edema

skin edema

hypercapnia

increased respiratory quotient

abnormal calcium ion homeostasis

abnormal potassium ion homeostasis

abnormal physiological response to xenobiotic

increased susceptibility to xenobiotic induced morbidity/mortality

increased physiological sensitivity to xenobiotic

Availability

Mouse Genotype

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

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

Ryr1^tm1Slh/Ryr1^tm1Slh

Ryr1^tm1Tno/Ryr1^tm1Tno

Ryr1^tm2.1Alle/Ryr1^tm2.1Alle

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

Ryr1^em1Tmur/Ryr1⁺

Ryr1^m1Nisw/Ryr1⁺

Ryr1^tm1.1Dhm/Ryr1⁺

Ryr1^tm1.1Inp/Ryr1⁺

Ryr1^{tm1b(EUCOMM)Hmgu}/Ryr1⁺

Ryr1^tm1Slh/Ryr1⁺

Ryr1^tm2.1Alle/Ryr1⁺

Ryr1^tm3.1Alle/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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