Phenotypes Associated with This Genotype

Genotype
MGI:3587764

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

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:99796 )

• Background Sensitivity: background sensitive partial lethality among heterozygotes before weaning

• of those that died prematurely, most died at 1-2 days after birth and the rest by 2 weeks after birth of unknown causes

• in 10 mice that died prematurely, no morphological abnormalities in the heart, kidneys, liver, digestive tract, thymus, or pancreas were found by histological analysis

renal/urinary system

kidney cyst ( J:99796 )

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

• onset and frequency are less severe compared to other background involving Balb/c or C3H

increased renal cystadenoma incidence ( J:99796 )

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

• onset and frequency are less severe compared to other background involving Balb/c or C3H

increased renal carcinoma 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 )

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

• onset and frequency are less severe compared to other background involving Balb/c or C3H

increased renal carcinoma 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 by 15-18 month

• onset and frequency are less severe compared to other background involving Balb/c or C3H

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