Mouse Genome Informatics
ht1
    Nlgn3tm1Rhn/Nlgn3+
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
phenotype not analyzed


Mouse Genome Informatics
cx2
    Nlgn3tm1Rhn/Y
Tg(Pcp2-tTA)3Horr/0

involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
N
• mice in the absence of doxycycline (Nlgn3 expression is on) exhibit rescue of the neurological phenotypes seen in Nlgn3 single hemizygotes (J:187744)
• 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 (J:187744)


Mouse Genome Informatics
ot3
    Nlgn3tm1Rhn/Y
involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• 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 (J:187744)

nervous system
• mutants exhibit extensive ectopic synapse formation in the distal Purkinje cell dendritic tree (J:187744)
• mutants exhibit perturbed metabotropic glutamate receptor-dependent synaptic plasticity (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 (J:187744)
• small, but significant, reduction in miniature excitatory postsynaptic current (mEPSC) amplitude (J:187744)
• however, paired-pulse facilitation of parallel fiber synapse is not altered (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) (J:187744)

Mouse Models of Human Disease
OMIM IDRef(s)
Autism, Susceptibility to, X-Linked 1; AUTSX1 300425 J:187744