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. Author manuscript; available in PMC: 2021 Nov 1.
Published in final edited form as: Trends Neurosci. 2020 Sep 28;43(11):886–901. doi: 10.1016/j.tins.2020.09.001

Table 3.

Behavioral phenotypes present in various mouse models carrying 16p11.2 deletion (16p11.2+/−) or duplication (16p11.2dp/+).

Ref. Mouse origin/genetic interval Behavioral Phenotypes
16p11.2+/− mice
[5] Mills lab
Slx1b-Sept1
 • Reduced body size/body weight
 • Hyperlocomotion
[62] Mills lab
Slx1b-Sept1
 • Barnes maze deficits
 • Reduced social approach
[61] Mills lab
Slx1b-Sept1
 • Reduced body weight
 • More complex locomotor trajectory/shorter latency to approach stimulus
 • Deficits in righting from upside-down position
 • Normal 3 chamber social preference/social novelty recognition
 • Normal startle/pre-pulse inhibition (PPI)
[67] Mills lab
Slx1b-Sept1
 • Delayed learning in FR1 continuous reinforcement nose-poke task (males only)
 • Earlier response termination in a progressive ratio nose-poke task (males only)
 • Deficits in the five-choice serial reaction time test (5-CSRTT)
 • No difference in sucrose preference test
[70] Mills lab
Slx1b-Sept1
 • Hyperlocomotion over 24-hour period (both sexes).
 • Reduced sleep time (males only) and less time in NREM sleep (REM normal)
[66] Mills lab
Slx1b-Sept1
 • Reduced open arm time in the elevated plus maze
 • Novel object recognition deficits
[65] Mills lab
Slx1b-Sept1
 • Deficits in contextual fear conditioning (reduced freezing).
 • Impaired memory acquisition and extinction in inhibitory avoidance task
[64] Mills lab
Slx1b-Sept1
 • Impaired object recognition memory
 • Reduced freezing in context-dependent aversive learning task
 • Open field hyperlocomotion

[64] Dolmetsch lab
Coro1a-Spn
 • Deficient object location memory
 • Reduced male-to-female nose-to-nose/nose-to-anogenital sniffing, following time, following bouts, and ultrasonic vocalizations.
 • Normal open field locomotion
[4] Dolmetsch lab
Coro1a-Spn
 • Reduced body length/body weight
 • Severely impaired startle response
 • Lack of gait fluidity; frequent tremor
 • Hyperlocomotion in home cage and in an activity chamber
 • Increased hanging; reduced grooming; reduced resting; increased circling behavior
 • Impaired novel object recognition
[63] Dolmetsch lab
Coro1a-Spn
 • Reduced body weight
 • Reduced male-to-female anogenital sniff, follow time, and ultrasonic vocalizations (mixed-genotype housed only)
 • Increased open arm time in elevated plus maze (mixed-genotype housed only)
 • Reduced immobility time in tail suspension test (mixed-genotype housed only)
 • Impaired novel object recognition (mixed-genotype housed only)
 • Impaired object location memory (mixed-genotype housed only)
 • Increased arena exploration
 • Normal 3 chamber social preference
[60] Dolmetsch lab
Coro1a-Spn
 • Reduced body weight
 • Reduced male-female ultrasonic vocalizations, anogenital sniff, and follow
 • Severe deficits in startle response and pre-pulse inhibition
 • Deafness, confirmed via auditory brainstem response test
 • Delayed hot plate response (reduced pain sensitivity)
 • Normal olfaction
[68] Dolmetsch lab
Coro1a-Spn
 • Impaired novel object recognition
 • Impaired object location memory
 • Mild social novelty recognition deficits
 • Delayed acquisition & reversal in a touch screen discrimination task
 • Inability to swim
 • Normal contextual and cued fear conditioning

[59] Herault lab
Sult1a1-Spn
C57BL/6N inbred background
 • Increased dark cycle vertical activity
 • Increased time in center of open field
 • Increased jumping and rearing
 • Impaired object recognition memory
 • Increased hindlimb errors in notched bar test.
 • Normal social interaction
C57BL/6N-C3B hybrid background
 • Increased dark cycle ambulatory/vertical activity and light cycle vertical activity
 • Increased climbing behavior
 • Reduced social interaction
 • Impaired object recognition memory
 • Normal rotarod motor coordination
 • Normal open field locomotion and time in center

16p11.2dp/+ mice
[5] Mills lab
Slx1b-Sept1
 • Hypolocomotion
 • Increased grooming
[72] Mills lab
Slx1b-Sept1
 • 3 chamber social preference deficits (normal social novelty recognition)
 • Social approach deficits
 • Temporal order recognition memory (TORM) deficits
 • Increased self-grooming
 • Hypolocomotion.
 • Normal novel object recognition (NOR)
 • Normal startle response/PPI
 • Lack of MK-801-induced hyperlocomotion
 • Normal elevated plus maze and rotarod
[73] Mills lab
Slx1b-Sept1
 • Hypolocomotion (males only)
 • Reduced time in center of open field (males only)
 • Reduced ratio of open:closed arm time in elevated plus maze (males only)
 • Normal startle response
 • Reduced PPI (females only)
 • Increased distance between cagemates
 • Reduced time spent in close proximity to cagemates
 • Impaired performance in “N-back” WM task
 • Impaired performance in continuous performance task

[59] Herault lab
Sult1a1-Spn
C57BL/6N inbred background
 • Reduced light cycle ambulatory/vertical activity and dark cycle vertical activity
 • Open field hypolocomotion and reduced time in center
 • Enhanced object recognition memory
 • Normal social interaction
 • Normal motor coordination in notched bar test
C57BL/6N-C3B hybrid background
 • Reduced dark cycle vertical activity
 • Reduced social interaction
 • Decreased climbing behavior
 • Enhanced object recognition memory
 • Normal open field locomotion/time in center
 • Normal rotarod motor coordination