Phenotypes Associated with This Genotype

Genotype
MGI:3710678

• Allelic Composition: Cacna2d2^du/Cacna2d2^du
• Genetic Background: involves: C3H * DBA/2J

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

growth/size/body

decreased body weight ( J:121463 )

• body weight is severely reduced (19.1 grams) compared to wild-type (9.4 grams)

nervous system

abnormal motor neuron morphology ( J:121463 )

• fiber diameter at diaphragm NMJs is reduced by ~45% compared with wild-type

abnormal neuromuscular synapse morphology ( J:121463 )

• neuromuscular junction area (area staining for acetylcholine receptors) in ~40% smaller relative to wild-type mice (227 um² vs 374 um²)

abnormal miniature endplate potential ( J:121463 )

• MEPP amplitude in increased by ~40% at neuromuscular junctions (NMJs) compared to wild-type

decreased neurotransmitter release ( J:121463 )

• number of quanta released per supramaximal stimulus is reduced by ~25% compared to wild-type muscles