Phenotypes Associated with This Genotype

Genotype
MGI:3624988

• Allelic Composition: Tg(Ckm-LPL)HRze/0
• Genetic Background: involves: C57BL/6J * CBA/J

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

mortality/aging

premature death ( J:101818 )

• die between 10 and 12 weeks after birth

growth/size/body

decreased body weight ( J:101818 )

• during the first 2 months after birth, gain only 75% of the weight of controls

weight loss ( J:101818 )

• at 2 months of age, start to lose weight rapidly so that by 10 weeks after birth attain only 43% of the body weight of controls

muscle

increased muscle free fatty acids level ( J:101818 )

• 4.3-fold increase

abnormal muscle fiber morphology ( J:101818 )

• moderate (5 to 8-fold) increase in vital mitochondria and detect many residual mitochondria which had undergone cystic degenerative changes between membranous degenerative material

• muscle fiber degeneration and atrophy

abnormal myocardial fiber morphology ( J:101818 )

• increase in the number of mitochondria in myocytes

abnormal skeletal muscle morphology ( J:101818 )

• large increase in the number of peroxisomes in skeletal muscle

increased skeletal muscle glycogen level ( J:101818 )

• excessive glycogen storage in muscle fibers at 2 months of age

decreased skeletal muscle mass ( J:101818 )

• at 2 months of age, exhibit a massive loss of muscle mass

myopathy ( J:101818 )

• severe myopathy is characterized by excessive glycogen storage in muscle fibers, muscle fiber degeneration, atrophy, lymphocytic and mesenchymal reaction, and increased number of nuclei in muscle fibers

homeostasis/metabolism

decreased circulating triglyceride level ( J:101818 )

• 61.1% decrease in plasma triglyceride levels at 2-3 months of age and lower levels are seen over the lifespan of mutants

decreased circulating VLDL triglyceride level ( J:101818 )

increased skeletal muscle glycogen level ( J:101818 )

• excessive glycogen storage in muscle fibers at 2 months of age

increased muscle free fatty acids level ( J:101818 )

• 4.3-fold increase

increased catalase activity ( J:101818 )

• 8-fold increase in catalase activity in skeletal muscle

adipose tissue

abnormal adipose tissue distribution ( J:101818 )

• at 2 months of age, exhibit almost complete loss of adipose tissue

cardiovascular system

abnormal myocardial fiber morphology ( J:101818 )

• increase in the number of mitochondria in myocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myopathy		DOID:423		J:101818