Phenotypes associated with this allele

• Allele Symbol: Nlgn3^tm1Rhn
• Allele Name: targeted mutation 1, Rene Hen
• Allele ID: MGI:5439278
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Nlgn3^tm1Rhn/Y Tg(Pcp2-tTA)3Horr/0	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:5440732
ot2	Nlgn3^tm1Rhn/Y	involves: 129S6/SvEvTac * C57BL/6	MGI:5440731

Genotype
MGI:5440732

cx1

• Allelic Composition: Nlgn3^tm1Rhn/Y; Tg(Pcp2-tTA)3Horr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

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

nervous system

nervous system phenotype ( J:187744 )

♂N • mice in the absence of doxycycline (Nlgn3 expression is on) exhibit rescue of the neurological phenotypes seen in Nlgn3 single hemizygotes

♂N • mutants raised in the presence of doxycycline (Nlgn3 expression is off) and then the doxycycline is removed to allow for Nlgn3 reexpression, exhibit removal of ectopic synapses from the distal Purkinje cell dendritic tree

Genotype
MGI:5440731

ot2

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

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