Phenotypes associated with this allele

• Allele Symbol: Tg(Ckm-GSN*D187N)AJewe
• Allele Name: transgene insertion A, Jeffery W Kelly
• Allele ID: MGI:4353799
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(Ckm-GSN*D187N)AJewe/Tg(Ckm-GSN*D187N)AJewe	C57BL/6J-Tg(Ckm-GSN*D187N)AJewe	MGI:4353803
tg2	Tg(Ckm-GSN*D187N)AJewe/0	C57BL/6J-Tg(Ckm-GSN*D187N)AJewe	MGI:4353802

Genotype
MGI:4353803

tg1

• 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

Genotype
MGI:4353802

tg2

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

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