Phenotypes Associated with This Genotype

Genotype
MGI:7434319

• Allelic Composition: Cdh2^em1Obir/Cdh2^em1Obir
• Genetic Background: C57BL/6JRcc-Cdh2^em1Obir

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

behavior/neurological

decreased exploration in new environment ( J:331911 )

♂ • mice exhibit fewer alternations in the spontaneous alternation test compared to wild-type

decreased aggression towards male mice ( J:331911 )

♂ • in the social interaction test, mice show a shorter interaction time in the resident-intruder test but not differences are seen in the three-chamber sociability test or social novelty test

increased startle reflex ( J:331911 )

♂ • mice exhibit an elevated startle amplitude

♂ • acute treatment of mice with methylphenidate results in lower startle amplitude compared to controls

hyperactivity ( J:331911 )

♂ • mice exhibit greater traveling distance, increased velocity, and prolonged mobility time in the open-field exploratory test, indicative of hyperactivity

♂ • however, no differences are seen in time spent in center of the open-field or in the amount of center/border crossings, in the rotarod test, or in the elevated plus-maze test of anxiety

♂ • acute methylphenidate intervention aggravates locomotor activity

homeostasis/metabolism

decreased nervous system dopamine level ( J:331911 )

♂ • dopamine concentration is decreased in the prefrontal cortex of 14-week-old males

nervous system

decreased dopaminergic neuron number ( J:331911 )

♂ • reduction in the density of TH+ neurons within the prefrontal cortex and ventral midbrain

abnormal synapse morphology ( J:331911 )

♂ • ex-vivo hippocampal neurons exhibit a decrease in the size of the presynaptic vesicle cluster

abnormal synaptic vesicle number ( J:331911 )

♂ • the readily releasable synaptic vesicle pool size is smaller in hippocampal neurons

abnormal synaptic vesicle clustering ( J:331911 )

♂ • synaptic vesicle clusters in synapses are smaller and more compact

abnormal synaptic vesicle recycling ( J:331911 )

♂ • however, kinetics of vesicle recycling is normal

♂ • primary neuronal hippocampal cultures show weaker synaptic vesicle recycling/release upon electrical stimulation

abnormal sensorimotor gating ( J:331911 )

♂ • mice show increased startle amplitude in the pre-pulse inhibition test, indicating deficits in early-stage information processing, although no difference is seen in the pre-pulse attenuation fraction itself

impaired synaptic plasticity ( J:331911 )

♂ • Schaffer collateral pathway synapses exhibit lower frequency facilitation

decreased miniature excitatory postsynaptic current frequency ( J:331911 )

♂ • in the presence of tetrodotoxin and bicuculline, miniature excitatory postsynaptic current (mEPSC) frequency is smaller in neurons

♂ • however no difference in mePSC amplitude is seen

abnormal prepulse inhibition ( J:331911 )

♂ • mice show increased startle amplitude in the pre-pulse inhibition test

decreased neurotransmitter release ( J:331911 )

♂ • hippocampal neurons show attenuated evoked transmitter release and decreased spontaneous release

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
attention deficit hyperactivity disorder		DOID:1094	OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312	J:331911