Phenotypes Associated with This Genotype

Genotype
MGI:4353802

• Allelic Composition: Tg(Ckm-GSN*D187N)AJewe/0
• Genetic Background: C57BL/6J-Tg(Ckm-GSN*D187N)AJewe

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

muscle

skeletal muscle fiber atrophy ( J:150825 )

• by 9 months, mice develop atrophic fibers with basophilic appearance

• at 18 months, mice exhibit atrophic fibers and fibers with internal nuclei, basophilic inclusions, and vacuoles

increased variability of skeletal muscle fiber size ( J:150825 )

• by 18 months

centrally nucleated skeletal muscle fibers ( J:150825 )

• at 18 months

muscle degeneration ( J:150825 )

• at 9 months, mice exhibit scattered muscle fibers with granular blue basophilic appearance indicating degeneration unlike in wild-type mice

progressive muscle weakness ( J:150825 )

• at 7 to 9 months and worse at 12 to 14 months

homeostasis/metabolism

amyloidosis ( J:150825 )

• beginning at 3 months, mice exhibit amyloid depositions around the endomysial capillaries and the surrounding muscle fibers unlike in wild-type mice

• amyloidosis progresses with age

• by 18 months, extensive amyloidosis in the endomysium with occasional punctate deposits within some muscle fibers

• between 9 and 18 months, mice exhibit fibrillar deposits between the sarcolemma and the endomysium unlike in wild-type mice

• at 18 months, intranuclear inclusions are observed in muscle cells

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