Phenotypes Associated with This Genotype

Genotype
MGI:3588773

• Allelic Composition: Tsc1^tm1.1Djk/Tsc1⁺
• Genetic Background: either: 129S4/SvJae-Tsc1^tm1Djk or (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * C57BL/6J)

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

mortality/aging

premature death ( J:75243 )

• increased premature death before 18 month of age for female and in a co-isogenic 129SvJae background, due to increased incidence of severe liver hemangioma leading to spontaneous bleeding

neoplasm

increased hepatic hemangioma incidence ( J:75243 )

• consisting of aberrant vascular channels of highly variable size that often had cuboidal-columnar endothelial cells, and proliferation of smooth muscle cells

• these lesions were seen in 67% males and 93% females

• these lesions are more severe in female compared to male, causing more death in female

increased renal cystadenoma incidence ( J:75243 )

• multiple bilateral renal cystadenomas in all heterozygous mice by 15-18 months of age

• varied from pure cysts with cuboidal lining cells to cysts with papillary projections, to a solid adenomas

• Background Sensitivity: there were more cystadenomas in BALB/cJ hybrid background, but no sex difference were seen

increased renal carcinoma incidence ( J:75243 )

• 6 out of 31 heterozygous mice showed histologic features consistent with progression to renal cell carcinoma

• no evidence of metastasis was found in those mice

increased hemangiosarcoma incidence ( J:75243 )

• 1out of 31 heterozygous mice showed hemangiosarcoma of the forepaw

renal/urinary system

increased renal cystadenoma incidence ( J:75243 )

• multiple bilateral renal cystadenomas in all heterozygous mice by 15-18 months of age

• varied from pure cysts with cuboidal lining cells to cysts with papillary projections, to a solid adenomas

• Background Sensitivity: there were more cystadenomas in BALB/cJ hybrid background, but no sex difference were seen

increased renal carcinoma incidence ( J:75243 )

• 6 out of 31 heterozygous mice showed histologic features consistent with progression to renal cell carcinoma

• no evidence of metastasis was found in those mice

liver/biliary system

increased hepatic hemangioma incidence ( J:75243 )

• consisting of aberrant vascular channels of highly variable size that often had cuboidal-columnar endothelial cells, and proliferation of smooth muscle cells

• these lesions were seen in 67% males and 93% females

• these lesions are more severe in female compared to male, causing more death in female

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:75243