Phenotypes associated with this allele

• Allele Symbol: Ppp1r3c^tm1Adpr
• Allele Name: targeted mutation 1, Anna A DePaoli-Roach
• Allele ID: MGI:5906221
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppp1r3c^tm1Adpr/Ppp1r3c^tm1Adpr	B6.Cg-Ppp1r3c^tm1Adpr	MGI:5906250
hm2	Ppp1r3c^tm1Adpr/Ppp1r3c^tm1Adpr	involves: C57BL/6J	MGI:5906222
cx3	Epm2a^tm1Kzy/Epm2a^tm1Kzy Ppp1r3c^tm1Adpr/Ppp1r3c^tm1Adpr	involves: 129P2/OlaHsd * C57BL/6J	MGI:5906240

Genotype
MGI:5906250

hm1

• Allelic Composition: Ppp1r3c^tm1Adpr/Ppp1r3c^tm1Adpr
• Genetic Background: B6.Cg-Ppp1r3c^tm1Adpr

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

mortality/aging

mortality/aging ( J:242758 )

N • mice are viable and born at expected Mendelian frequency

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:242758 )

N • female and male mice exhibit normal response to glucose

N • mice exhibit normal insulin-stimulated glycogen synthase in skeletal muscle and fat, glucose uptake in brown and white fat, hepatic glucose production, serum insulin and free fatty acid

increased energy expenditure ( J:242758 )

• despite normal food consumption and activity

abnormal glucose homeostasis ( J:242758 )

• increased glucose turnover and glycolysis

increased insulin sensitivity ( J:242758 )

♂ • in male, but not female, mice

muscle

increased muscle cell glucose uptake ( J:242758 )

cellular

increased muscle cell glucose uptake ( J:242758 )

Genotype
MGI:5906222

hm2

• Allelic Composition: Ppp1r3c^tm1Adpr/Ppp1r3c^tm1Adpr
• Genetic Background: involves: C57BL/6J

homeostasis/metabolism

abnormal glycogen homeostasis ( J:242755 )

• noradrenaline and insulin fail to promote glycogen synthesis in cultured astrocytes unlike in wild-type cells

Genotype
MGI:5906240

cx3

• Allelic Composition: Epm2a^tm1Kzy/Epm2a^tm1Kzy; Ppp1r3c^tm1Adpr/Ppp1r3c^tm1Adpr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

nervous system

nervous system phenotype ( J:242756 )

N • unlike in Epm2a^tm1Kzy homozygotes, mice do not exhibit gliosis, neurodegeneration or myoclonus

abnormal Purkinje cell morphology ( J:242756 )

• plasma membrane is not quite as taut as in wild-type mice and exhibits rare synaptic contact loss

• however, cells exhibit a full nuclei and cytoplasms, circular plasma membranes, and a full complement of synapses around the cell body

Lafora bodies ( J:242756 )

• decreased Lafora bodies compared with Epm2a^tm1Kzy homozygotes

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:242756 )

N • unlike in Epm2a^tm1Kzy homozygotes, glycogen levels in whole brain and skeletal muscle are normal