Phenotypes Associated with This Genotype

Genotype
MGI:3587766

• Allelic Composition: Tsc1^tm1Chdl/Tsc1⁺
• Genetic Background: involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd

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

renal/urinary system

kidney cyst ( J:99796 )

• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month

• onset and frequency are less severe compared to background involving C3H

increased renal cystadenoma incidence ( J:99796 )

• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month

• onset and frequency are less severe compared to background involving C3H

increased renal carcinoma incidence ( J:99796 )

• 80% of mice with solid renal cell carcinoma (RCC) by 15-18 month

• many RCC were larger than 5 mm which resulted in grossly deformed kidney

neoplasm

increased hepatic hemangioma incidence ( J:99796 )

• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice

increased renal cystadenoma incidence ( J:99796 )

• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month

• onset and frequency are less severe compared to background involving C3H

increased renal carcinoma incidence ( J:99796 )

• 80% of mice with solid renal cell carcinoma (RCC) by 15-18 month

• many RCC were larger than 5 mm which resulted in grossly deformed kidney

growth/size/body

kidney cyst ( J:99796 )

• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month

• onset and frequency are less severe compared to background involving C3H

liver/biliary system

increased hepatic hemangioma incidence ( J:99796 )

• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:99796