Mouse Genome Informatics
hm1
    Tsc2tm1Djk/Tsc2tm1Djk
either: (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Small size and liver hypoplasia in Tsc2tm1Djk/Tsc2tm1Djk embryos

mortality/aging

liver/biliary system


Mouse Genome Informatics
ht2
    Tsc2tm1Djk/Tsc2+
either: (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Tsc2tm1Djk/Tsc2+ mice develop renal, liver, lung and extremity tumors

tumorigenesis
• reported at 15 months of age
• Background Sensitivity: note that the tumor expression pattern is influenced by genetic background; authors note fewer large renal cystadenomas in outbred Black Swiss background and more angiosarcomas in 129S4/SvJae chimeric mice
• 50% incidence; causes fatal bleeding in 10% of these cases
• less than 10% incidence
• less than 10% incidence

Mouse Models of Human Disease
OMIM IDRef(s)
Tuberous Sclerosis 2; TSC2 613254 J:57631


Mouse Genome Informatics
ht3
    Tsc2tm1Djk/Tsc2+
involves: 129S4/SvJae * C57BL/6NCrl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
N
• mice exhibit normal motor skills, exploratory behavior, anxiety and social approach behavior (J:138621)
• following contextual conditioning, mice exhibit reduced freezing compared to wild-type mice
• however, treatment with rapamycin re-establishes normal contextual conditioning
• 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
N
• mice exhibit normal basal synaptic transmission, paired-pulse facilitation and early-phase 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
OMIM IDRef(s)
Tuberous Sclerosis 2; TSC2 613254 J:138621