Phenotypes Associated with This Genotype

Genotype
MGI:5906240

cx3

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

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

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