Phenotypes Associated with This Genotype

Genotype
MGI:5056404

• Allelic Composition: Shank3^tm1Yhj/Shank3^tm1Yhj
• Genetic Background: B6.129S7-Shank3^tm1Yhj

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

behavior/neurological

behavior/neurological phenotype ( J:173402 )

N • mice exhibit normal prepulse inhibition, startle response, anxiety related behavior in a light-dark emergence test and elevated zero maze, novel object recognition, and social transmission of food preference

abnormal motor learning ( J:173402 )

• male mice exhibit impaired motor learning on a rotarod compared with wild-type mice

• however, female mice exhibit normal motor learning

abnormal object recognition memory ( J:173402 )

• mice exhibit decreased novel object preference compared with wild-type mice

abnormal long-term object recognition memory ( J:173402 )

• during long term and remote memory tests, mice exhibit more object contacts than wild-type mice

abnormal spatial learning ( J:173402 )

• in Morris water maze due to test familiarization or delayed learning, rather than specific sensory, motor, or motivational abnormalities

increased grooming behavior ( J:173402 )

abnormal motor capabilities/coordination/movement ( J:173402 )

• mice exhibit reduced orienting to moving objects compared with wild-type mice

• mice exhibit decreased darting compared with wild-type mice

impaired righting response ( J:173402 )

• in male mice tip-over in a vertical placement test compared with wild-type mice

impaired coordination ( J:173402 )

• mice exhibit impaired climbing down a vertical pole compared with wild-type mice

• in a foot-misplacement test, mice exhibit increased foot-fault compared with wild-type mice

• male mice exhibit more severe impairments than female mice

abnormal gait ( J:173402 )

• as detected by a treadscan gait analysis, mice exhibit increased stance and brake time and diagonal coupling ratio compared with wild-type mice

decreased vertical activity ( J:173402 )

• in male mice, but not female mice

decreased locomotor activity ( J:173402 )

• in male mice, but not female mice

increased stereotypic behavior ( J:173402 )

• in a hole-board test, mice exhibit more head pokes compared with wild-type mice

• when encountering a novel object in a familiar environment, mice exhibit stereotypic investigation and self-stimulatory behavior compared with wild-type mice

abnormal social investigation ( J:173402 )

• mice fail to show social affiliation compared with wild-type mice

• mice exhibit reduced social behavior in a dyadic test and elicit less social interaction from C3H partner mice compared with wild-type mice

• mice exhibit reduced time sniffing compared with wild-type mice

• however, mice prefer interacting with a novel animal when forced to choose between two social stimuli in the social preference test

abnormal vocalization ( J:173402 )

• mice exhibit aberrant duration and frequency of ultrasonic vocalizations compared with wild-type mice

nervous system

nervous system phenotype ( J:173402 )

N • brain weight is normal at 2 to 4 months of age

N • mice exhibit normal basal synaptic transmission

abnormal dendritic spine morphology ( J:173402 )

• at 4 weeks of age, spines are less dense and longer than in wild-type mice

• at 10 weeks, spine length is increased compared to in wild-type mice

• however, spine density at 10 weeks of age is normal

impaired synaptic plasticity ( J:173402 )

• mice exhibit impaired hippocampal CA1 synaptic plasticity compared with wild-type mice

reduced long-term potentiation ( J:173402 )

decreased post-tetanic potentiation ( J:173402 )

growth/size/body

increased body weight ( J:173402 )

• slightly at 8 to 12 months

• however, body weight is normal at 3 to 4 months of age

taste/olfaction

taste/olfaction phenotype ( J:173402 )

N • mice exhibit normal olfaction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:173402