Phenotypes Associated with This Genotype

Genotype
MGI:6197485

• Allelic Composition: Stxbp5l^tm1.1Aljg/Stxbp5l^tm1.1Aljg
• Genetic Background: involves: C57BL/6J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:263474 )

• Background Sensitivity: some mice on a mixed background die between E18 and 3 weeks of age unlike mice on a congenic C57BL/6J background

• however, no additional loss is observed after P21

nervous system

neurodegeneration ( J:263474 )

• degeneration of the central nervous system at E18

• however, neuronal morphology is normal

decreased prepulse inhibition ( J:263474 )

• however, acoustic startle response is normal

abnormal endplate potential ( J:263474 )

• at 40 Hz, neuromuscular junctions exhibit a greater decrease in EPP amplitude compared to in wild-type mice

• repetitive stimulation reduces EPP amplitudes

abnormal synaptic acetylcholine release ( J:263474 )

• increased at neuromuscular junctions

• however, mEPP amplitude and kinetics are normal at low rates of stimulation and neurotransmitter release in hippocampal synapses is normal

decreased paired-pulse facilitation ( J:263474 )

• at neuromuscular junctions

behavior/neurological

impaired coordination ( J:263474 )

• however, motor learning on a rotarod is normal

decreased grip strength ( J:263474 )

• with a reduction in the number of reaches when lowered to the edge of a grid

decreased locomotor activity ( J:263474 )

• less motile at E18

cardiovascular system

internal hemorrhage ( J:263474 )

• head or abdominal at E18

growth/size/body

decreased body weight ( J:263474 )

• slightly in one set of animals

homeostasis/metabolism

increased partial thromboplastin time ( J:263474 )

• at E18

integument

pallor ( J:263474 )

• white appearance at E18