Phenotypes Associated with This Genotype

Genotype
MGI:5467729

• Allelic Composition: Pten^tm1Rps/Pten⁺; Slc6a4^tm1Kpl/Slc6a4⁺
• Genetic Background: B6.129-Slc6a4^tm1Kpl Pten^tm1Rps

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

behavior/neurological

abnormal social investigation ( J:144937 )

• 8 week old females show a significant decrease in preference for interacting with a stimulus mouse in a social approach assay, with mice spending significantly less time interacting with the stimulus mouse than in wild-type mice or either single heterozygote, indicating impaired social approach behavior in females

• while 8 week old males do not show a change in preference for social interaction for the first trial, upon reexposure to the same social target in trial 2, males do not show attenuation of preference for social investigation between the first and second trials as seen in wild-type mice, indicating impaired social recognition in males

nervous system

increased brain weight ( J:144937 )

reduced sensorimotor gating ( J:144937 )

• deficits in prepulse inhibition of the acoustic startle response indicate impaired sensorimotor gating

decreased prepulse inhibition ( J:144937 )

• mice show deficits in prepulse inhibition of the acoustic startle response to a similar level as single Pten heterozygotes

• however, mice respond to the olfactory-habituation-dishabituation test normally, indicating normal olfactory function

growth/size/body

megacephaly ( J:144937 )

• macrocephaly that is more severe than in either single heterozygote

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:144937