Phenotypes Associated with This Genotype

Genotype
MGI:4353803

• Allelic Composition: Tg(Ckm-GSN*D187N)AJewe/Tg(Ckm-GSN*D187N)AJewe
• Genetic Background: C57BL/6J-Tg(Ckm-GSN*D187N)AJewe

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

muscle

abnormal skeletal muscle fiber morphology ( J:150825 )

• between 12 and 18 months, mice exhibit extensive myofiber atrophy with increased numbers of fibers exhibiting vacuoles

muscular atrophy ( J:150825 )

• at 12 months, myopathy is severe and includes numerous atrophic fibers, endomysial amylodogenesis, vacuoles, and fatty infiltration

skeletal muscle fiber atrophy ( J:150825 )

• between 12 and 18 months, mice exhibit extensive myofiber atrophy with increased numbers of fibers exhibiting vacuoles

behavior/neurological

impaired coordination ( J:150825 )

• in a beam traverse challenge, mice exhibit increased time to travel the beam at 7 to 9 and 12 to 14 months, steps taken at 12 to 14 months, and errors per step at 12 to 14 months compared with wild-type mice

homeostasis/metabolism

amyloidosis ( J:150825 )

• muscle amyloidosis is more severe than in mice with only one copy of the transgene and begins as early as 1 month of age

• at 3 months, amyloid deposits are more widespread and extend into the endomysium

• amyloidosis worsens with age

• at 9 to 12 months, intranuclear inclusions are observed in muscle cells

• at 18 months, intranuclear inclusions in muscle cells are more extensive than in mice with only one copy of the transgene

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Finnish type amyloidosis		DOID:0050637	OMIM:105120	J:150825