Mouse Genome Informatics
cx
    Gnetm1Sngi/Gnetm1Sngi
Tg(ACTB-GNE*D176V)9Sngi/0

involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• lower median survival rate

muscle
• 5 of 12 mice that died displayed rimmed vacuoles in the skeletal muscles
• muscle cross sections are positive for Congo red stained protein deposits and about 62% of rimmed vesicles contain amyloid proteins
• accumulation of these proteins starts at 32 to 34 weeks of age
• after 40 weeks of age, rimmed vacuoless and occasional inclusion bodies are seen in scattered fibers
• some fibers appear atrophic by 40 weeks of age
• increase in variation of fiber size with age that preferentially affects the gastrocnemius and quadriceps muscles
• 3 of 12 mice had fibrosis and a few rimmed vacuoles in the diaphragm
• some muscles, particularly the gastrocnemius, are atrophic
• vacuolated muscle fibers shows signs of the unfolded protein response and activation of autophagy
• reduced muscle strength noted after 30 weeks of age

growth/size/body
• after 30 weeks of age, mice weigh significantly less than control littermates
• lower body weight is more pronounced and develops earlier in females compred to males

homeostasis/metabolism
• elevated serum creatine kinase activity compared to littermate controls starting at 30 weeks of age

cardiovascular system
• about 20% of mice develop fibrosis in the cardiac muscle after 30 weeks of age and some cardiomyocytes show amyloid deposition and rimmed vacuoles

Mouse Models of Human Disease
OMIM IDRef(s)
Nonaka Myopathy; NM 605820 J:117854