Phenotypes Associated with This Genotype

Genotype
MGI:4429442

• Allelic Composition: Ppp1r3c^tm1Ars/Ppp1r3c⁺
• Genetic Background: B6.129-Ppp1r3c^tm1Ars

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

growth/size/body

increased heart weight ( J:83297 )

• 25% increase in heart weight and heart/body weight ratio is seen in aged mutants

adipose tissue

decreased adipose tissue glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in adipose tissue (54% less)

homeostasis/metabolism

increased circulating leptin level ( J:83297 )

• fasting serum leptin levels are elevated in older mutants

increased circulating triglyceride level ( J:83297 )

• serum levels of fasting, but not non-fasting, triglycerides are increased by about 32% at 18 months of age

abnormal glucose homeostasis ( J:83297 )

• 180% increase in glucose transport into the epididymal adipose depot

increased circulating insulin level ( J:83297 )

• develop hyperinsulinemia with age; fasting serum insulin levels are elevated 2-fold at 1-2 months of age and 3-fold at 10 months of age

impaired glucose tolerance ( J:83297 )

• develop progressive glucose intolerance with age

abnormal glycogen homeostasis ( J:83297 )

• insulin-stimulated glycogen synthesis is reduced

decreased glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in adipose tissue (54% less), liver (42% less), heart (48% less), and skeletal muscle (26% less)

• in a fasted state, mutants show a 25% reduction in hepatic and heart glycogen

decreased adipose tissue glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in adipose tissue (54% less)

decreased cardiac muscle glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in heart (48% less)

• in a fasted state, mutants show a 25% reduction in heart glycogen

decreased liver glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in liver (42% less)

• in a fasted state, mutants show a 25% reduction in hepatic glycogen

decreased skeletal muscle glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in skeletal muscle (26% less)

insulin resistance ( J:83297 )

• develop insulin resistance with age

increased skeletal muscle triglyceride level ( J:83297 )

• skeletal muscle of 18 month old mutants shows 30% increase in triglyceride content

abnormal enzyme/coenzyme activity ( J:83297 )

• decrease in glycogen synthase activity in 1-2 month old mutants

liver/biliary system

decreased liver glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in liver (42% less)

• in a fasted state, mutants show a 25% reduction in hepatic glycogen

muscle

decreased cardiac muscle glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in heart (48% less)

• in a fasted state, mutants show a 25% reduction in heart glycogen

decreased skeletal muscle cell glucose uptake ( J:83297 )

• glucose uptake by white fiber quadriceps muscle is reduced by 35% in 3-4 month old mutants

• however, uptake into mixed fiber gastrocnemius muscle is not altered

decreased skeletal muscle glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in skeletal muscle (26% less)

increased skeletal muscle triglyceride level ( J:83297 )

• skeletal muscle of 18 month old mutants shows 30% increase in triglyceride content

cardiovascular system

decreased cardiac muscle glycogen level ( J:83297 )

• in a non-fasting state, mutants show a reduction in glycogen stores in heart (48% less)

• in a fasted state, mutants show a 25% reduction in heart glycogen

increased heart weight ( J:83297 )

• 25% increase in heart weight and heart/body weight ratio is seen in aged mutants

cellular

decreased skeletal muscle cell glucose uptake ( J:83297 )

• glucose uptake by white fiber quadriceps muscle is reduced by 35% in 3-4 month old mutants

• however, uptake into mixed fiber gastrocnemius muscle is not altered

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
type 2 diabetes mellitus		DOID:9352	OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036	J:83297