Phenotypes Associated with This Genotype

Genotype
MGI:3513763

• Allelic Composition: Sypl2^tm1Hta/Sypl2^tm1Hta
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

behavior/neurological

behavior/neurological phenotype ( J:59188 )

N • no defects in motor function were seen in a fixed bar test, rotarod test, open-field test or forced swimming test, demonstrating that no significant deficiencies in motor coordination or motor ability occurred in mutant mice

growth/size/body

decreased body size ( J:59188 )

decreased body weight ( J:59188 )

muscle

abnormal sarcoplasmic reticulum morphology ( J:59188 )

• the sarcoplasmic reticulum appeared abnormal with irregular orientation of networks and swollen, fragmented and/or vacuolated regions

abnormal skeletal muscle fiber morphology ( J:59188 )

• abnormal T tubule morphology; rounded appearance and abnormal orientation

decreased skeletal muscle fiber size ( J:59188 )

• small muscle cell size

abnormal skeletal muscle fiber triad morphology ( J:59188 )

• the number of triad junctions was reduced in mutant skeletal muscle

impaired skeletal muscle contractility ( J:59188 )

• twitch tension was reduced in mutant skeletal muscle; mutant muscle cultured in calcium free conditions exhibited a faster decrease of twitch tension than controls

cellular

abnormal sarcoplasmic reticulum morphology ( J:59188 )

• the sarcoplasmic reticulum appeared abnormal with irregular orientation of networks and swollen, fragmented and/or vacuolated regions