Phenotypes Associated with This Genotype

Genotype
MGI:5766948

• Allelic Composition: Del(16Dgcr2-Hira)3Aam/+
• Genetic Background: involves: 129S7/SvEvBrd

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

nervous system

abnormal dendrite morphology ( J:141432 )

• reduction in dendritic complexity in primary cultured neurons, with hippocampal neurons exhibiting a 38% decrease in the number of primary dendrites, a 45% decrease in the number of branch points and a decrease in the total length of dendrites

• 8 week old mice show a decrease in the number of branch points in the basal dendritic tree of CA1 neurons

abnormal dendritic spine morphology ( J:141432 )

• reduction in the mushroom spine density in CA1 pyramidal neurons and in primary cultured neurons

• average spine head width is decreased by 23% and the average length is decreased by 18.5% in primary cultured neurons

• CA1 pyramidal neurons show a decrease in spine width but not spine length

abnormal synapse morphology ( J:141432 )

• reduction in the density of glutamatergic synapses in vitro and in vivo

decreased miniature excitatory postsynaptic current frequency ( J:141432 )

• miniature excitatory postsynaptic currents (MEPSCs) occur at lower frequencies in primary cultured hippocampal neurons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:141432