Phenotypes Associated with This Genotype

Genotype
MGI:3811791

• Allelic Composition: Tsc2^tm1Djk/Tsc2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6NCrl

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

behavior/neurological

behavior/neurological phenotype ( J:138621 )

N • mice exhibit normal motor skills, exploratory behavior, anxiety and social approach behavior

abnormal contextual conditioning behavior ( J:138621 )

• following contextual conditioning, mice exhibit reduced freezing compared to wild-type mice

• however, treatment with rapamycin re-establishes normal contextual conditioning

abnormal spatial learning ( J:138621 )

• in a hippocampus-dependent version of the Morris water maze test, spatial learning is impaired compared to in wild-type mice

• however, spatial learning in a hippocampus-independent water maze is normal and treatment with rapamycin re-establishes normal spatial learning

• mice exhibit more across-phase errors compared to in wild-type mice in a hippocampus-dependent win-shift version of the eight-arm radial maze

nervous system

nervous system phenotype ( J:138621 )

N • mice exhibit normal basal synaptic transmission, paired-pulse facilitation and early-phase long term potentiation

enhanced long-term potentiation ( J:138621 )

• mice exhibit lowered late-phase threshold for long term potentiation compared to in wild-type mice

• however, treatment with rapamycin re-establishes normal late-phase long term potentiation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:138621