Phenotypes Associated with This Genotype

Genotype
MGI:5440731

• Allelic Composition: Nlgn3^tm1Rhn/Y
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

behavior/neurological

abnormal motor coordination/balance ( J:187744 )

♂ • 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

increased CNS synapse formation ( J:187744 )

♂ • mutants exhibit extensive ectopic synapse formation in the distal Purkinje cell dendritic tree

impaired synaptic plasticity ( J:187744 )

♂ • mutants exhibit perturbed metabotropic glutamate receptor-dependent synaptic plasticity

increased excitatory postsynaptic current amplitude ( J:187744 )

♂ • 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

abnormal miniature excitatory postsynaptic currents ( J:187744 )

♂ • small, but significant, reduction in miniature excitatory postsynaptic current (mEPSC) amplitude

♂ • however, paired-pulse facilitation of parallel fiber synapse is not altered

absent long-term depression ( J:187744 )

♂ • 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		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:187744