Phenotypes Associated with This Genotype

Genotype
MGI:3620609

• Allelic Composition: Ryr1^tm1Tno/Ryr1^tm1Tno
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:18895 )

• after birth, mice failed to breathe or move and remained light purple in color

skeleton

abnormal axial skeleton morphology ( J:18895 )

• mutant neonates have abnormally curved spine and a thickened neck area

abnormal spine curvature ( J:18895 )

• neonates have an arched vertebral column

muscle

abnormal skeletal muscle fiber morphology ( J:18895 )

decreased skeletal muscle fiber size ( J:18895 )

• most of the fibers are small and fragmented by loose and amorphous tissues

increased variability of skeletal muscle fiber size ( J:18895 )

• myofibrils in muscle fibers are variable in size, and mostly smaller and fewer than in wild-type

centrally nucleated skeletal muscle fibers ( J:18895 )

• most of the fibers have nuclei centrally located

decreased skeletal muscle fiber number ( J:18895 )

• myofibrils in muscle fibers are fewer than in wild-type

impaired skeletal muscle contractility ( J:18895 )

• in physiological salt solution, skeletal muscle from homozygotes does not respond to electrical stimulation or show a contractile response to depolarization of the sarcolemma

• contractions with extremely slow kinetics are observed in PSS in response to electrical stimulation, exogenous calcium and Bay K-8644 an agonist of voltage-gated calcium channels

limbs/digits/tail

abnormal limb morphology ( J:18895 )

• animals have thin limbs at birth

homeostasis/metabolism

cyanosis ( J:18895 )

• after birth, mice remained light purple in color

respiratory system

respiratory failure ( J:18895 )

• after birth, mice failed to breathe

behavior/neurological

no spontaneous movement ( J:18895 )

• after birth, mice failed to move

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myopathy 1A		DOID:3529	OMIM:117000	J:18895