Mouse Genome Informatics
involves: 129S6/SvEvTac * C57BL/6
phenotype observed in females
phenotype observed in males
N normal phenotype
• on an Erasmus ladder, mutants complete the same number of valid runs on the ladder as wild-type mice, however, step times for mutants are significantly elevated, indicating perturbed motor coordination

nervous system
• mutants exhibit extensive ectopic synapse formation in the distal Purkinje cell dendritic tree
• mutants exhibit perturbed metabotropic glutamate receptor-dependent synaptic plasticity
• evoked climbing fiber-Purkinje cell transmission is increased as indicated by an increase in climbing fiber evoked excitatory postsynaptic current (EPSC) amplitude; elevation is due to an increase in the total number of climbing fiber synapses
• small, but significant, reduction in miniature excitatory postsynaptic current (mEPSC) amplitude
• however, paired-pulse facilitation of parallel fiber synapse is not altered
• mutants do not exhibit the reduction of EPSC amplitudes in response to group I mGluR agonist DHPG in cerebellar slices seen in controls, indicating a loss of metabotropic glutamate receptor-dependent long-term depression (mGluR-LTP)

Mouse Models of Human Disease
Autism, Susceptibility to, X-Linked 1; AUTSX1 300425 J:187744