Phenotypes Associated with This Genotype

Genotype
MGI:3587768

• Allelic Composition: Tsc1^tm1Chdl/Tsc1⁺
• Genetic Background: involves: 129P2/OlaHsd * C3H/HeNHsd * 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 more severe compared to background not involving C3H

increased renal cystadenoma incidence ( J:99796 )

• solid renal cell carcinoma (RCC) by 15-18 month

• RCC which is larger than 5 mm were less frequently found compared to background not involving Balb/c

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 )

• solid renal cell carcinoma (RCC) by 15-18 month

• RCC which is larger than 5 mm were less frequently found compared to background not involving Balb/c

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

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 more severe compared to background not involving C3H

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