All Phenotypes Tsc2<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tsc2⁺
wild type
MGI:2154476

Summary

14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tsc2^tm1Tno/Tsc2⁺	B6J.129S4-Tsc2^tm1Tno	MGI:5641393
ht2	Tsc2^tm1Djk/Tsc2⁺	either: (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * Black Swiss) or (involves: 129S4/SvJae * C57BL/6J)	MGI:2174788
ht3	Tsc2^tm1Mjg/Tsc2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3712790
ht4	Tsc2^tm1.2Mjg/Tsc2⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3712785
ht5	Tsc2^tm1Tno/Tsc2⁺	involves: 129S4/SvJae	MGI:5766244
ht6	Tsc2^tm1.1Kido/Tsc2⁺	involves: 129S4/SvJae * C57BL/6	MGI:3797791
ht7	Tsc2^tm2.2Djk/Tsc2⁺	involves: 129S4/SvJae * C57BL/6	MGI:4358058
ht8	Tsc2^tm1Djk/Tsc2⁺	involves: 129S4/SvJae * C57BL/6J	MGI:5824119
ht9	Tsc2^tm1Tno/Tsc2⁺	involves: 129S4/SvJae * C57BL/6J	MGI:2174790
ht10	Tsc2^tm1Djk/Tsc2⁺	involves: 129S4/SvJae * C57BL/6NCrl	MGI:3811791
ht11	Tsc2^tm1Jusa/Tsc2⁺	Not Specified	MGI:5471801
cn12	Tsc2^tm1Djk/Tsc2⁺ Atg7^tm1Tchi/Atg7^tm1Tchi Tg(Camk2a-cre)T29-1Stl/0	involves: 129S4/SvJae * BALB/c * C57BL * C57BL/6 * CBA/JNCrlj	MGI:5824126
cn13	Sdcbp^{tm1c(KOMP)Wtsi}/Sdcbp⁺ Tsc2^tm1Tno/Tsc2⁺ Tg(Camk2a-cre)2Gsc/0	involves: 129S4/SvJae * C57BL/6N * FVB/N	MGI:5766247
cx14	Tsc2^tm1Djk/Tsc2⁺ Tg(CAG-EGFP/Map1lc3b)53Nmz/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NCrlj * DBA/2	MGI:5824122

Allelic Composition	Tsc2^tm1Tno/Tsc2⁺
Genetic Background	B6J.129S4-Tsc2^tm1Tno

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1Tno mutation (0 available); any Tsc2 mutation (78 available)

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

behavior/neurological

decreased coping response ( J:221239 )

• immobility time in the tail suspension test is longer than in wild-type mice

• however, in the light/dark box test, time spend in the dark compartment is not different

increased vertical activity ( J:221239 )

• increase in rearing behavior

• treatment with rapamycin attenuates rearing behavior

abnormal social investigation ( J:221239 )

• mice spend a shorter time engaged in active interaction with a novel mouse than wild-type mice

• however, mice are not altered in social dominance, exhibit normal olfaction and exploration towards an inanimate object, and show intact motor and sensory function

• treatment with rapamycin extends the time of active interaction with a novel mouse

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder	DOID:0060041		J:221239
tuberous sclerosis	DOID:13515	OMIM:PS191100	J:221239

Allelic Composition	Tsc2^tm1Djk/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:
Tsc2^tm1Djk mutation (1 available); any Tsc2 mutation (78 available)

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

Tsc2^tm1Djk/Tsc2⁺ mice develop renal, liver, lung and extremity tumors

neoplasm

increased tumor incidence ( J:57631 )

• 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

increased hepatic hemangioma incidence ( J:57631 )

• 50% incidence; causes fatal bleeding in 10% of these cases

increased lung adenoma incidence ( J:57631 )

• 32% incidence

increased renal cystadenoma incidence ( J:57631 )

• 100% incidence

increased renal carcinoma incidence ( J:57631 )

• less than 10% incidence

increased extremity angiosarcoma incidence ( J:57631 )

• less than 10% incidence

renal/urinary system

increased renal cystadenoma incidence ( J:57631 )

• 100% incidence

increased renal carcinoma incidence ( J:57631 )

• less than 10% incidence

liver/biliary system

increased hepatic hemangioma incidence ( J:57631 )

• 50% incidence; causes fatal bleeding in 10% of these cases

respiratory system

increased lung adenoma incidence ( J:57631 )

• 32% incidence

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:57631

Allelic Composition	Tsc2^tm1Mjg/Tsc2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1Mjg mutation (0 available); any Tsc2 mutation (78 available)

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

renal/urinary system

kidney cyst ( J:121748 )

• heterozygotes develop renal cysts after 1 year of age, but no renal tumors were identified like in reports for homozygous nulls by 1 year of age

growth/size/body

kidney cyst ( J:121748 )

• heterozygotes develop renal cysts after 1 year of age, but no renal tumors were identified like in reports for homozygous nulls by 1 year of age

Allelic Composition	Tsc2^tm1.2Mjg/Tsc2⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1.2Mjg mutation (0 available); any Tsc2 mutation (78 available)

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

renal/urinary system

kidney cyst ( J:121748 )

• within first year, lesions consisting of renal cysts are found in some heterozygotes, similar to previous reports of heterozygous mice

neoplasm

increased adenoma incidence ( J:121748 )

• with first year of life, frank tumors are observed in the kidneys; cystadenomas and renal tumors with abnormal giant cells are observed

growth/size/body

kidney cyst ( J:121748 )

• within first year, lesions consisting of renal cysts are found in some heterozygotes, similar to previous reports of heterozygous mice

Allelic Composition	Tsc2^tm1Tno/Tsc2⁺
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1Tno mutation (0 available); any Tsc2 mutation (78 available)

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

nervous system

nervous system phenotype ( J:222712 )

N	• mice exhibit normal evoked EPSC amplitude, mEPSC amplitude, mEPSC frequency, vesicular release probability and number of releasable vesicles

abnormal dendrite morphology ( J:222712 )

• spine density is reduced

abnormal dendritic spine morphology ( J:222712 )

• dendritic protrusion are longer and thinner than in wild-type mice

• increased shaft synapse density compared with wild-type mice

Allelic Composition	Tsc2^tm1.1Kido/Tsc2⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1.1Kido mutation (0 available); any Tsc2 mutation (78 available)

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

neoplasm

increased kidney tumor incidence ( J:135811 )

• mice exhibit renal carcinogenesis

renal/urinary system

increased kidney tumor incidence ( J:135811 )

• mice exhibit renal carcinogenesis

Allelic Composition	Tsc2^tm2.2Djk/Tsc2⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm2.2Djk mutation (0 available); any Tsc2 mutation (78 available)

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

neoplasm

increased renal cystadenoma incidence ( J:149326 )

• both gross and microscopic tumor scores were markedly reduced in the Tsc2^tm2.2Djk mice compared with the Tsc2^tm1Djk mice

• the percent cellularity of the lesions was also reduced in the Tsc2^tm2.2Djk mice compared with the Tsc2^tm1Djk mice

• qualitatively, the tumors from the Tsc2^tm2.2Djk mice were obviously smaller in size and growth appearance compared with the Tsc2^tm1Djk mice

• at age 18 months tumors from Tsc2^tm2.2Djk mice became comparable to those seen in the Tsc2^tm1Djk mice at age 12 months

renal/urinary system

increased renal cystadenoma incidence ( J:149326 )

• both gross and microscopic tumor scores were markedly reduced in the Tsc2^tm2.2Djk mice compared with the Tsc2^tm1Djk mice

• the percent cellularity of the lesions was also reduced in the Tsc2^tm2.2Djk mice compared with the Tsc2^tm1Djk mice

• qualitatively, the tumors from the Tsc2^tm2.2Djk mice were obviously smaller in size and growth appearance compared with the Tsc2^tm1Djk mice

• at age 18 months tumors from Tsc2^tm2.2Djk mice became comparable to those seen in the Tsc2^tm1Djk mice at age 12 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:149326

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1Djk mutation (1 available); any Tsc2 mutation (78 available)

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

behavior/neurological

abnormal response to novel object ( J:217829 )

• 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

abnormal social investigation ( J:217829 )

• 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

abnormal response to social novelty ( J:217829 )

• 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

abnormal autophagy ( J:217829 )

• 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

abnormal dendritic spine morphology ( J:217829 )

• 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

homeostasis/metabolism

abnormal autophagy ( J:217829 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:217829

Allelic Composition	Tsc2^tm1Tno/Tsc2⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1Tno mutation (0 available); any Tsc2 mutation (78 available)

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

neoplasm

increased hepatic hemangioma incidence ( J:52464 )

• by 18 months of age, ~80% of heterozygotes develop hepatic hemangiomas that are not macroscopically obvious at 10 months

• hemangiomas develop in both sexes, involve all hepatic lobes, and resemble cavernous hemangiomas composed of a thin layer of endothelium and large blood-filled cavities

increased renal carcinoma incidence ( J:52464 )

• by 6 months, 95% of heterozygotes of both sexes develop spontaneous bilateral and multiple RCs

• by 10 months, virtually all heterozygotes develop RCs which are mostly cystic, with a diameter of 1-2 mm; tubular-type RCs are also observed

• RC development is accelerated by transplacental ENU-treatment of embryos at E14.0 or E15.0

• notably, 4 of 11 larger RCs exhibit loss of the remaining wild-type allele

renal/urinary system

increased renal carcinoma incidence ( J:52464 )

• by 6 months, 95% of heterozygotes of both sexes develop spontaneous bilateral and multiple RCs

• by 10 months, virtually all heterozygotes develop RCs which are mostly cystic, with a diameter of 1-2 mm; tubular-type RCs are also observed

• RC development is accelerated by transplacental ENU-treatment of embryos at E14.0 or E15.0

• notably, 4 of 11 larger RCs exhibit loss of the remaining wild-type allele

liver/biliary system

increased hepatic hemangioma incidence ( J:52464 )

• by 18 months of age, ~80% of heterozygotes develop hepatic hemangiomas that are not macroscopically obvious at 10 months

• hemangiomas develop in both sexes, involve all hepatic lobes, and resemble cavernous hemangiomas composed of a thin layer of endothelium and large blood-filled cavities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:52464

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1Djk mutation (1 available); any Tsc2 mutation (78 available)

♀	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

Allelic Composition	Tsc2^tm1Jusa/Tsc2⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2^tm1Jusa mutation (0 available); any Tsc2 mutation (78 available)

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

cardiovascular system

decreased myocardial infarct size ( J:186597 )

• following 45 minutes of ischemia with 24 hours of reperfusion

increased myocardial infarct size ( J:186597 )

• following 2 hours of ischemia without reperfusion

homeostasis/metabolism

decreased myocardial infarct size ( J:186597 )

• following 45 minutes of ischemia with 24 hours of reperfusion

increased myocardial infarct size ( J:186597 )

• following 2 hours of ischemia without reperfusion

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atg7^tm1Tchi mutation (3 available); any Atg7 mutation (51 available)
Tg(Camk2a-cre)T29-1Stl mutation (2 available)
Tsc2^tm1Djk mutation (1 available); any Tsc2 mutation (78 available)

♀	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

Allelic Composition	Sdcbp^{tm1c(KOMP)Wtsi}/Sdcbp⁺ Tsc2^tm1Tno/Tsc2⁺ Tg(Camk2a-cre)2Gsc/0
Genetic Background	involves: 129S4/SvJae * C57BL/6N * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sdcbp^{tm1c(KOMP)Wtsi} mutation (0 available); any Sdcbp mutation (27 available)
Tg(Camk2a-cre)2Gsc mutation (2 available)
Tsc2^tm1Tno mutation (0 available); any Tsc2 mutation (78 available)

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

nervous system

nervous system phenotype ( J:222712 )

N	• mice exhibit normal electrophysiological properties

abnormal dendrite morphology ( J:222712 )

• dendritic protrusions exhibit increased width and density and reduced length compared to in Tsc2^tm1Tno heterozygotes

• however, mice exhibit normal spine and shaft synapse density

Allelic Composition	Tsc2^tm1Djk/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 (5 available)
Tsc2^tm1Djk mutation (1 available); any Tsc2 mutation (78 available)

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

cellular

abnormal autophagosome formation ( J:217829 )

• failure of autophagosome induction in neurons

• rapamycin treatment normalizes autophagosome formation in neurons

homeostasis/metabolism

abnormal autophagosome formation ( J:217829 )

• failure of autophagosome induction in neurons

• rapamycin treatment normalizes autophagosome formation in neurons

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