Phenotypes Associated with This Genotype

Genotype
MGI:5285395

• Allelic Composition: Shank3^tm1.2Bux/Shank3⁺
• Genetic Background: C57BL/6-Shank3^tm1.2Bux

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

nervous system

abnormal neuron physiology ( J:175320 )

• spine enlargement accompanying long term potentiation is impaired

abnormal excitatory postsynaptic potential ( J:175320 )

• reduction in the I/O curves of field excitatory postsynaptic potentials in hippocampal slices from 3-4 week old mice

• decrease in AMPA receptor mediated field potentials

reduced long-term potentiation ( J:175320 )

• initial expression of LTP is normal but maintenance is impaired

abnormal miniature excitatory postsynaptic currents ( J:175320 )

• significantly higher frequency of miniature excitatory postsynaptic currents

decreased paired-pulse ratio ( J:175320 )

• decrease in the paired pulse ratio

behavior/neurological

abnormal social investigation ( J:175320 )

• total social sniffing by the males is lower

• however, no defect in olfactory abilities are detected

decreased vocalization ( J:175320 )

• fewer ultrasonic vocalizations emitted during male-female social interactions session

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:175320