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Phenotypes Associated with This Genotype
Genotype
MGI:3698861
Allelic
Composition
Gnetm1Sngi/Gnetm1Sngi
Tg(ACTB-GNE*D176V)9Sngi/0
Genetic
Background
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
mortality/aging
• lower median survival rate (J:117854)
• lower median survival rate (J:117854)

muscle
• 5 of 12 mice that died displayed rimmed vacuoles in the skeletal muscles (J:117854)
• muscle cross sections are positive for Congo red stained protein deposits and about 62% of rimmed vesicles contain amyloid proteins (J:117854)
• accumulation of these proteins starts at 32 to 34 weeks of age (J:117854)
• 5 of 12 mice that died displayed rimmed vacuoles in the skeletal muscles (J:117854)
• muscle cross sections are positive for Congo red stained protein deposits and about 62% of rimmed vesicles contain amyloid proteins (J:117854)
• accumulation of these proteins starts at 32 to 34 weeks of age (J:117854)
• after 40 weeks of age, rimmed vacuoless and occasional inclusion bodies are seen in scattered fibers (J:117854)
• after 40 weeks of age, rimmed vacuoless and occasional inclusion bodies are seen in scattered fibers (J:117854)
• some fibers appear atrophic by 40 weeks of age (J:117854)
• some fibers appear atrophic by 40 weeks of age (J:117854)
• increase in variation of fiber size with age that preferentially affects the gastrocnemius and quadriceps muscles (J:117854)
• increase in variation of fiber size with age that preferentially affects the gastrocnemius and quadriceps muscles (J:117854)
• 3 of 12 mice had fibrosis and a few rimmed vacuoles in the diaphragm (J:117854)
• 3 of 12 mice had fibrosis and a few rimmed vacuoles in the diaphragm (J:117854)
• some muscles, particularly the gastrocnemius, are atrophic (J:117854)
• some muscles, particularly the gastrocnemius, are atrophic (J:117854)
• vacuolated muscle fibers shows signs of the unfolded protein response and activation of autophagy (J:117854)
• vacuolated muscle fibers shows signs of the unfolded protein response and activation of autophagy (J:117854)
• reduced muscle strength noted after 30 weeks of age (J:117854)
• reduced muscle strength noted after 30 weeks of age (J:117854)

growth/size/body
• after 30 weeks of age, mice weigh significantly less than control littermates (J:117854)
• lower body weight is more pronounced and develops earlier in females compred to males (J:117854)
• after 30 weeks of age, mice weigh significantly less than control littermates (J:117854)
• lower body weight is more pronounced and develops earlier in females compred to males (J:117854)

homeostasis/metabolism
• elevated serum creatine kinase activity compared to littermate controls starting at 30 weeks of age (J:117854)
• elevated serum creatine kinase activity compared to littermate controls starting at 30 weeks of age (J:117854)

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 (J:117854)
• about 20% of mice develop fibrosis in the cardiac muscle after 30 weeks of age and some cardiomyocytes show amyloid deposition and rimmed vacuoles (J:117854)

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
02/02/2016
MGI 6.02
The Jackson Laboratory