Phenotypes Associated with This Genotype

Genotype
MGI:2174790

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

• ♀: 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