Phenotypes Associated with This Genotype

Genotype
MGI:5824126

• Allelic Composition: Tsc2^tm1Djk/Tsc2⁺; Atg7^tm1Tchi/Atg7^tm1Tchi; Tg(Camk2a-cre)T29-1Stl/0
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL * C57BL/6 * CBA/JNCrlj

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

behavior/neurological

abnormal social investigation ( J:217829 )

• in the three-chamber test, mice show impaired preference for sniffing the social target and for social novelty

abnormal response to social novelty ( J:217829 )

• during dyadic encounters, mice spend less time sniffing stimulus mice than control littermates

cellular

abnormal autophagy ( J:217829 )

• mice exhibit high levels of p62/ubiquitin-positive aggregates in cortices at P30, indicating loss of autophagy

nervous system

abnormal dendritic spine morphology ( J:217829 )

• between P21 and P29, basal dendrites from layer V A1/S2 pyramidal neurons exhibit more spines than controls, indicating impaired spine pruning, with only 2% of spines pruned

• treatment with rapamycin does not rescue spine pruning

homeostasis/metabolism

abnormal autophagy ( J:217829 )

• mice exhibit high levels of p62/ubiquitin-positive aggregates in cortices at P30, indicating loss of autophagy