Phenotypes Associated with This Genotype

Genotype
MGI:3708979

• Allelic Composition: Tsc1^tm1Hin/Tsc1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

Renal tumors in Tsc1^tm1Hin/Tsc1⁺ mice

mortality/aging

premature death ( J:70463 )

• notice sudden death of heterozygotes older than 18 months of age, probably as a result of the rupture of huge hepatic hemangiomas

neoplasm

abnormal tumor morphology ( J:70463 )

• most tumors that develop exhibit loss of heterozygosity (LOH)

increased tumor incidence ( J:70463 )

• tumors in extremities develop with a high frequency

increased incidence of tumors by chemical induction ( J:70463 )

• transplacental administration of ENU accelerates renal tumorigenesis compared to controls

increased uterus leiomyoma incidence ( J:70463 )

♀ • detect leiomyoma/leiomyosarcoma in the uterus

increased leiomyosarcoma incidence ( J:70463 )

• detect leiomyoma/leiomyosarcoma in the uterus

increased renal cystadenoma incidence ( J:70463 )

• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

increased hemangioma incidence ( J:70463 )

• detect hemangioma in the tail

increased hepatic hemangioma incidence ( J:70463 )

• about 80% of mutants develop hepatic hemangiomas by 15-18 months of age

increased renal carcinoma incidence ( J:70463 )

• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:70463 )

• transplacental administration of ENU accelerates renal tumorigenesis compared to controls

renal/urinary system

increased renal cystadenoma incidence ( J:70463 )

• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

increased renal carcinoma incidence ( J:70463 )

• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

muscle

increased uterus leiomyoma incidence ( J:70463 )

♀ • detect leiomyoma/leiomyosarcoma in the uterus

increased leiomyosarcoma incidence ( J:70463 )

• detect leiomyoma/leiomyosarcoma in the uterus

liver/biliary system

increased hepatic hemangioma incidence ( J:70463 )

• about 80% of mutants develop hepatic hemangiomas by 15-18 months of age

reproductive system

increased uterus leiomyoma incidence ( J:70463 )

♀ • detect leiomyoma/leiomyosarcoma in the uterus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:70463