Mouse Genome Informatics
hm
    Ryr1tm1Tno/Ryr1tm1Tno
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• after birth, mice failed to breathe or move and remained light purple in color

skeleton
• mutant neonates have abnormally curved spine and a thickened neck area
• neonates have an arched vertebral column

muscle
• most of the fibers are small and fragmented by loose and amorphous tissues
• myofibrils in muscle fibers are variable in size, and mostly smaller and fewer than in wild-type
• most of the fibers have nuclei centrally located
• myofibrils in muscle fibers are fewer than in wild-type
• 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
• animals have thin limbs at birth

homeostasis/metabolism
• after birth, mice remained light purple in color

respiratory system
• after birth, mice failed to breathe

behavior/neurological
• after birth, mice failed to move

Mouse Models of Human Disease
OMIM IDRef(s)
Central Core Disease of Muscle 117000 J:18895