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Phenotypes Associated with This Genotype
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlgn3tm1Rhn mutation (1 available); any Nlgn3 mutation (15 available)
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
OMIM ID Ref(s)
Autism, Susceptibility to, X-Linked 1; AUTSX1 300425 J:187744

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory