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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 6 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/6J MGI:5824119
ht4
Tsc2tm1Djk/Tsc2+ involves: 129S4/SvJae * C57BL/6NCrl MGI:3811791
cn5
Tsc2tm1Djk/Tsc2+
Atg7tm1Tchi/Atg7tm1Tchi
Tg(Camk2a-cre)T29-1Stl/0
involves: 129S4/SvJae * BALB/c * C57BL * C57BL/6 * CBA/JNCrlj MGI:5824126
cx6
Tsc2tm1Djk/Tsc2+
Tg(CAG-EGFP/Map1lc3b)53Nmz/0
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NCrlj * DBA/2 MGI:5824122


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 (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Small size and liver hypoplasia in Tsc2tm1Djk/Tsc2tm1Djk embryos

mortality/aging

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 (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

respiratory system

renal/urinary system
• less than 10% incidence

liver/biliary system
• 50% incidence; causes fatal bleeding in 10% of these cases

neoplasm
• 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
DO ID OMIM ID(s) Ref(s)
tuberous sclerosis DOID:13515 OMIM:191100
OMIM:613254
J:57631




Genotype
MGI:5824119
ht3
Allelic
Composition
Tsc2tm1Djk/Tsc2+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2tm1Djk mutation (1 available); any Tsc2 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• male adolescent mice spend less time exploring the novel object than wild-type mice in the novel object recognition test
• however, male adolescent mice do not exhibit repetitive behaviors, motor defects or anxiety-like behaviors in the open field
• in the three-chamber social test, male adolescent mice show a preference for interacting with a social target compared with nonsocial target, and the preference index (the ratio of time sniffing mouse versus nonsocial target) is decreased
• treatment with rapamycin rescues social deficits (normalizes sociability and social novelty preferences
• male adolescent (P30-P35) mice spend less time sniffing the stimulus mouse during a dyadic social interaction with a novel mouse, indicating impaired social interactions
• in the social novelty test, adolescent males spend a similar amount of time sniffing both novel and familiar targets, with decreased preference index (the ratio of time sniffing a stranger mouse versus a familiar mouse), indicating a reduced preference for social novelty

cellular
• basal autophagy is suppressed in the brain
• rapamycin treatment normalizes autophagy
• accumulation of lipid droplets and damaged mitochondria in primary neuronal cultures, indicating impaired autophagy

nervous system
• density of dendritic spines in pyramidal neuron basal dendrites of layer V A1/S2 in temporal cortex is increased in adolescent males
• similar numbers of spines are seen at P19-P20 as in wild-type mice but far more spines in P29-P30 mutants, indicating a lack of normal spine pruning, with only 26% of spines being pruned
• mice treated with an intraperitoneal injection of rapamycin show a correction of the pruning defect




Genotype
MGI:3811791
ht4
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 (30 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
• 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
• 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:191100
OMIM:613254
J:138621




Genotype
MGI:5824126
cn5
Allelic
Composition
Tsc2tm1Djk/Tsc2+
Atg7tm1Tchi/Atg7tm1Tchi
Tg(Camk2a-cre)T29-1Stl/0
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL * C57BL/6 * CBA/JNCrlj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atg7tm1Tchi mutation (1 available); any Atg7 mutation (20 available)
Tg(Camk2a-cre)T29-1Stl mutation (2 available)
Tsc2tm1Djk mutation (1 available); any Tsc2 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in the three-chamber test, mice show impaired preference for sniffing the social target and for social novelty
• during dyadic encounters, mice spend less time sniffing stimulus mice than control littermates

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

nervous system
• 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




Genotype
MGI:5824122
cx6
Allelic
Composition
Tsc2tm1Djk/Tsc2+
Tg(CAG-EGFP/Map1lc3b)53Nmz/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NCrlj * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-EGFP/Map1lc3b)53Nmz mutation (4 available)
Tsc2tm1Djk mutation (1 available); any Tsc2 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• failure of autophagosome induction in neurons
• rapamycin treatment normalizes autophagosome formation in neurons





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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory