Phenotypes Associated with This Genotype

Genotype
MGI:5749228

• Allelic Composition: Ryr1^m1Nisw/Ryr1⁺
• Genetic Background: 129S1.B6-Ryr1^m1Nisw

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

decreased grip strength ( J:219285 )

• decrease in grip strength

• decreased hang time in wire hanging test

cellular

abnormal mitochondrial shape ( J:219285 )

• irregularly shaped mitochondria found in muscle fibers

abnormal mitochondrial physiology ( J:219285 )

• ATP content is decreased by 30% in soleus muscle

homeostasis/metabolism

abnormal potassium ion homeostasis ( J:219285 )

• intracellular potassium concentrations are decreased in soleus muscle fibers as compared to wild-type

• increased potassium ion permeability (potassium leak) in muscle of 2 month old mice

• increase in K_ATP channel activity

increased circulating potassium level ( J:219285 )

• increase in K⁺ serum levels in 6 month, but not 2 month, old mice

muscle

abnormal sarcomere morphology ( J:219285 )

• sarcomeric degeneration

abnormal Z line morphology ( J:219285 )

• increased number of z-line streaming sites observed in soleus muscle from 2 month old mice

abnormal sarcoplasmic reticulum morphology ( J:219285 )

• impaired release of Ca²⁺ from the sarcoplasmic reticulum

• increased levels of Ca²⁺ in the sarcoplasmic reticulum

• decreased myoplasmic Ca²⁺ levels

abnormal skeletal muscle fiber morphology ( J:219285 )

• core like structures observed in vastus lateralis adductor magnus and soleus muscles from 1 yr old mice

• decrease in mitochondrial activity as assessed by COX staining observed in vastus lateralis muscles from 1 yr old mice

• enlarged T-tubules in type 1 fibers observed in soleus muscle from 2 month old mice

• myofibers exhibit internalized nuclei

centrally nucleated skeletal muscle fibers ( J:219285 )

• centrally located nuclei observed in vastus lateralis, adductor magnus and soleus muscles from 1 yr old mice

muscle weakness ( J:219285 )

myopathy ( J:219285 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myopathy 1A		DOID:3529	OMIM:117000	J:219285