Phenotypes Associated with This Genotype

Genotype
MGI:5824730

• Allelic Composition: Dlg3^tm1Grnt/Y
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

nervous system

abnormal brain morphology ( J:238576 )

♂ • brain mass is reduced

abnormal neocortex size ( J:238576 )

♂ • total neocortical area is reduced

abnormal somatosensory cortex morphology ( J:238576 )

♂ • reduction in the total numbers of thalamocortical axons innervating the somatosensory cortex

♂ • however, segregation of barrels is unaffected

abnormal barrel cortex morphology ( J:238576 )

♂ • area of posteromedial barrel subfield is reduced

♂ • combined area of all thalamocortical axon patches in the barrel cortex is reduced indicating a reduction in thalamocortical innervation of barrel cortex

abnormal innervation ( J:238576 )

♂ • P8-10 mice show a reduction in connectivity of individual thalamocortical axons onto L4 neurons despite normal NMDA receptor function after the critical period

♂ • reduction in neurofilament medium polypeptide-positive axons in barrel cortex in P6-7 mice

abnormal axon morphology ( J:238576 )

♂ • decrease in the number of thalamocortical axons

abnormal synapse morphology ( J:238576 )

♂ • thalamocortical synapses transiently show altered NMDA receptor function

♂ • however, after the critical period thalamocortical synapses function normally

decreased excitatory postsynaptic current amplitude ( J:238576 )

♂ • reduction in peak excitatory postsynaptic current (EPSC) amplitude

♂ • however, no differences are seen in minimal stimulation EPSC amplitude

prolonged excitatory postsynaptic current decay time ( J:238576 )

♂ • NMDA excitatory postsynaptic currents (EPSCs) show faster decay kinetics during the critical period for thalamocortical plasticity

♂ • treatment with ifenprodil, a GluN2B-specific antagonist, has no effect on NMDA EPSCs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
non-syndromic X-linked intellectual disability		DOID:0050776	OMIM:300716 OMIM:PS309530	J:238576