Phenotypes Associated with This Genotype

Genotype
MGI:5316488

• Allelic Composition: Ext1^tm1Yama/Ext1^tm1Yama; Tg(Camk2a-cre)2834Lusc/0
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

behavior/neurological

decreased anxiety-related response ( J:182220 )

• in the elevated plus maze, mutants spend more than half the session time on the open arms and moved freely on them compared to wild-type mice that remain mostly on the closed arms, indicating reduced fear of height

• in the light/dark box text, mutants spent more time in the brightly illuminated space than wild-type mice, although the number of transitions between light and dark spaces did not differ

• in the open-field test, mutants spend a longer time in the central area than wild-type mice and exhibit higher levels of locomotor activity, indicating reduced fear of open spaces

decreased fear-related response ( J:182220 )

• in the elevated plus maze, mutants spend more than half the session time on the open arms and moved freely on them compared to wild-type mice that remain mostly on the closed arms, indicating reduced fear of height

• in the light/dark box text, mutants spent more time in the brightly illuminated space than wild-type mice, although the number of transitions between light and dark spaces did not differ

• in the open-field test, mutants spend a longer time in the central area than wild-type mice and exhibit higher levels of locomotor activity, indicating reduced fear of open spaces

increased locomotor activity ( J:182220 )

• in the open-field test, mutants exhibit higher levels of locomotor activity

increased stereotypic behavior ( J:182220 )

• in the hole-board test, while wild-type mice explore different holes in a random or successive manner, mutants show a tendency towards making repeated head-dips into the same hole, indicating stereotyped dip behavior; occurrence of stereotypic dip was significantly greater, however the total number of head-dips did not differ from wild-type

• mutants show a tendency to perform consecutive head-dips of more than 4 repetitions, a behavior not seen in wild-type mice

• however, mutants do not exhibit spontaneous stereotypic behavior such as jumping, circling, paw flapping or self-grooming

decreased thermal nociceptive threshold ( J:182220 )

• in the hot plate test, mutants exhibit shorter latency to respond to thermal stimuli indicating sensory hypersensitivity

abnormal nest building behavior ( J:182220 )

• mutants exhibit reduced nest-building activity

abnormal social investigation ( J:182220 )

• in a separation-reunion test with siblings, mutants show less interactions with siblings after reunion

• in the resident-intruder test, while wild-type mice explore the intruder extensively, mutants seldom chase the intruder and instead frequently show behaviors of avoidance, such as freezing and moving away

• in the social dominance tube test, mutants almost always retreat out of the tube and lose

decreased vocalization ( J:182220 )

• ultrasonic vocalization emitted by mutants is reduced significantly in terms of number, duration, and amplitude of calls in response to female odor compared to wild-type mice

• complexity of ultrasonic vocalization is reduced compared to wild-type mice

nervous system

abnormal synaptic transmission ( J:182220 )

• excitatory synaptic transmission is altered in amygdala neurons

• however, mutants do not exhibit overt abnormalities in the overall morphology of the amygdala or in the morphology of dendritic arbors and spines in pyramidal neurons of the basolateral amygdala

abnormal excitatory postsynaptic currents ( J:182220 )

• mutants exhibit depressed input-output curve of compound excitatory postsynaptic currents (EPSCs) in the basolateral amygdala

reduced AMPA-mediated synaptic currents ( J:182220 )

• mutants exhibit reduced AMPA receptor-mediated synaptic strength in basolateral amygdala neurons

abnormal miniature excitatory postsynaptic currents ( J:182220 )

• frequency of mEPSCs is reduced in mutant basolateral amygdala pyramidal neurons

• amplitude of mEPSCs is reduced in basolateral amygdala neurons, indicating that AMPA receptor-mediated postsynaptic activity is reduced

• however, neither the rising nor the decay of time of mEPSCs is altered, indicating that channel kinetics of AMPA receptors is preserved

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:182220