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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tsc2tm1Djk
targeted mutation 1, David J Kwiatkowski
MGI:1857938
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tsc2tm1Djk/Tsc2tm1Djk either: (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6J) MGI:2174787
ht2
Tsc2tm1Djk/Tsc2+ either: (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6J) MGI:2174788
ht3
Tsc2tm1Djk/Tsc2+ involves: 129S4/SvJae * C57BL/6NCrl MGI:3811791


Genotype
MGI:2174787
hm1
Allelic
Composition
Tsc2tm1Djk/Tsc2tm1Djk
Genetic
Background
either: (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2tm1Djk mutation (1 available); any Tsc2 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small size and liver hypoplasia in Tsc2tm1Djk/Tsc2tm1Djk embryos

mortality/aging
• age of onset E9.5 (J:57631)
• age of onset E9.5 (J:57631)

liver/biliary system




Genotype
MGI:2174788
ht2
Allelic
Composition
Tsc2tm1Djk/Tsc2+
Genetic
Background
either: (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2tm1Djk mutation (1 available); any Tsc2 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

tumorigenesis
• reported at 15 months of age (J:57631)
• 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 (J:57631)
• reported at 15 months of age (J:57631)
• 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 (J:57631)
• 32% incidence (J:57631)
• 32% incidence (J:57631)
• 100% incidence (J:57631)
• 100% incidence (J:57631)
• 50% incidence; causes fatal bleeding in 10% of these cases (J:57631)
• 50% incidence; causes fatal bleeding in 10% of these cases (J:57631)
• less than 10% incidence (J:57631)
• less than 10% incidence (J:57631)
• less than 10% incidence (J:57631)
• less than 10% incidence (J:57631)

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




Genotype
MGI:3811791
ht3
Allelic
Composition
Tsc2tm1Djk/Tsc2+
Genetic
Background
involves: 129S4/SvJae * C57BL/6NCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2tm1Djk mutation (1 available); any Tsc2 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice exhibit normal motor skills, exploratory behavior, anxiety and social approach behavior (J:138621)
• 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 (J:138621)
• however, treatment with rapamycin re-establishes normal contextual conditioning (J:138621)
• following contextual conditioning, mice exhibit reduced freezing compared to wild-type mice (J:138621)
• however, treatment with rapamycin re-establishes normal contextual conditioning (J:138621)
• in a hippocampus-dependent version of the Morris water maze test, spatial learning is impaired compared to in wild-type mice (J:138621)
• however, spatial learning in a hippocampus-independent water maze is normal and treatment with rapamycin re-establishes normal spatial learning (J:138621)
• 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 (J:138621)
• in a hippocampus-dependent version of the Morris water maze test, spatial learning is impaired compared to in wild-type mice (J:138621)
• however, spatial learning in a hippocampus-independent water maze is normal and treatment with rapamycin re-establishes normal spatial learning (J:138621)
• 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 (J:138621)

nervous system
N
• mice exhibit normal basal synaptic transmission, paired-pulse facilitation and early-phase long term potentiation (J:138621)
• 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 (J:138621)
• however, treatment with rapamycin re-establishes normal late-phase long term potentiation (J:138621)
• mice exhibit lowered late-phase threshold for long term potentiation compared to in wild-type mice (J:138621)
• however, treatment with rapamycin re-establishes normal late-phase long term potentiation (J:138621)

Mouse Models of Human Disease
OMIM ID Ref(s)
Tuberous Sclerosis 2; TSC2 613254 J:138621





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory