Phenotypes Associated with This Genotype

Genotype
MGI:3611318

• Allelic Composition: Usp14^ax-J/Usp14^ax-J
• Genetic Background: B6.Cg-Usp14^ax-J/J

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

nervous system

increased neuron apoptosis ( J:108034 )

abnormal cerebellar granule cell morphology ( J:108034 )

• TUNEL staining at 38 days of age shows increased apoptosis in cerebellar granule neurons in homozygotes and this is more severe in the anterior lobules than the posterior lobules

impaired synaptic plasticity ( J:79322 )

• changes in short-term plasticity suggestive of a learning impairment; could not be tested due to motor defects of animals

abnormal synaptic transmission ( J:79322 )

reduced long-term potentiation ( J:79322 )

• reduced early phase LTP after high frequency stimulation

decreased post-tetanic potentiation ( J:79322 )

• lower transient PTP immediately after high frequency stimulation

increased synaptic depression ( J:142436 )

• have increased synaptic short-term depression immediately following low frequency stimulation

abnormal miniature endplate potential ( J:79322 )

• significantly lower frequency and higher amplitude of miniature endplate potentials (MEPPs) in diaphragm muscle

• some MEPPs are larger and have significantly slower rise times

• input resistance and size of muscle fibers is not different from controls indicating lack of muscle degeneration

abnormal neurotransmitter secretion ( J:79322 )

• the amplitude of stimulus evoked endplate currents is smaller in diaphragm muscle

• the amplitude of spontaneous miniature endplate currents is larger in diaphragm muscle

• 53% lower quantal content in mutant mice

decreased paired-pulse facilitation ( J:79322 , J:142436 )

• lower levels of PPF at short interpulse intervals indicating defect in presynaptic calcium handling machinery (J:79322)

• there is significant depression of the PPF ratio for the first four inter-stimulus intervals in testing of the hippocampus region (J:142436)

cellular

increased neuron apoptosis ( J:108034 )