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Phenotypes Associated with This Genotype
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gnetm1Sngi mutation (0 available); any Gne mutation (15 available)
Tg(ACTB-GNE*D176V)9Sngi mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• lower median survival rate

• 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

• 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

• 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 ID Ref(s)
Nonaka Myopathy; NM 605820 J:117854

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory