Phenotypes Associated with This Genotype

Genotype
MGI:2174788

• 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)

• ♀: 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