Phenotypes Associated with This Genotype

Genotype
MGI:6430624

• Allelic Composition: Sh3rf2^tm1Zhxu/Sh3rf2⁺; Tg(Thy1-EGFP)MJrs/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA

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

nervous system

abnormal hippocampus morphology ( J:270945 )

♂ • marker analysis indicates an asymmetric enrichment of NMDA and AMPA receptors in the left and right postsynaptic density of hippocampi

abnormal dendritic spine morphology ( J:270945 )

♂ • mice show decreased spine volumes in secondary basal dendrites of left hippocampal CA1 pyramidal neurons, but not in right hemisphere CA1 pyramidal neurons; mushroom, stubby, and filopodia spines all show a decrease in spine volume

♂ • volumes of mushroom, stubby, and filopdia spines are also decreased in apical dendrites of the left hippocampus, while only filopodia spine volumes are reduced in the right hippocampus

♂ • hippocampal neurons from E18 mutants grown in culture show a decreased ratio of stubby spine but an increased ratio of filopodia spine in the secondary dendrites and decreased spine density and volume

increased dendritic spine density ( J:270945 )

♂ • mice show an increased ratio of stubby spines but a decreased ratio of long thin spines in the bilateral hippocampus, indicating an increase in the density of mature spines

♂ • however, no difference in spine density is seen in apical dendrites

abnormal hippocampal pyramidal neuron dendrite morphology ( J:270945 )

♂ • CA1 pyramidal neurons show reduced secondary dendritic spine volume in the left hippocampus but not right hippocampus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:270945