Phenotypes associated with this allele

• Allele Symbol: Tsc2^tm1.2Mjg
• Allele Name: targeted mutation 1.2, Michael J Gambello
• Allele ID: MGI:3712064
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tsc2^tm1.2Mjg/Tsc2^tm1.2Mjg	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3712784
ht2	Tsc2^tm1.2Mjg/Tsc2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	MGI:3712785
cn3	Tg(Pcp2-cre)2Mpin/0 Tsc2^tm1.1Mjg/Tsc2^tm1.2Mjg	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5140838

Genotype
MGI:3712784

hm1

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

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:121748 )

• most embryos display midgestation lethality similar to published reports

embryo

embryonic growth retardation ( J:121748 )

• embryos show severe growth retardation (E12.5)

growth/size/body

embryonic growth retardation ( J:121748 )

• embryos show severe growth retardation (E12.5)

Genotype
MGI:3712785

ht2

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

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

Genotype
MGI:5140838

cn3

• Allelic Composition: Tg(Pcp2-cre)2Mpin/0; Tsc2^tm1.1Mjg/Tsc2^tm1.2Mjg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

mortality/aging

postnatal lethality, incomplete penetrance ( J:174327 )

• 10% of mutants exhibit spontaneous deaths before weaning; cause of death is unknown

nervous system

seizures ( J:174327 )

• some mutants exhibit seizures

abnormal Purkinje cell morphology ( J:174327 )

• Purkinje cells are larger than in wild-type mice

Purkinje cell degeneration ( J:174327 )

• mutants exhibit Purkinje cell loss beginning at one month of age which becomes progressively more pronounced over time

• by 7 months of age, mutants lose more Purkinje cells than Tsc2^tm1.1Mjg/Tsc2^tm1.1Mjg Tg(Pcp2-cre)2Mpin/0 mice

behavior/neurological

seizures ( J:174327 )

• some mutants exhibit seizures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:174327