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Phenotypes Associated with This Genotype
Genotype
MGI:3708979
Allelic
Composition
Tsc1tm1Hin/Tsc1+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1tm1Hin mutation (0 available); any Tsc1 mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Renal tumors in Tsc1tm1Hin/Tsc1+ mice

reproductive system
• detect leiomyoma/leiomyosarcoma in the uterus

muscle
• detect leiomyoma/leiomyosarcoma in the uterus
• detect leiomyoma/leiomyosarcoma in the uterus

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

liver/biliary system
• about 80% of mutants develop hepatic hemangiomas by 15-18 months of age

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

neoplasm
• most tumors that develop exhibit loss of heterozygosity (LOH)
• tumors in extremities develop with a high frequency
• transplacental administration of ENU accelerates renal tumorigenesis compared to controls
• detect leiomyoma/leiomyosarcoma in the uterus
• detect leiomyoma/leiomyosarcoma in the uterus
• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age
• detect hemangioma in the tail
• about 80% of mutants develop hepatic hemangiomas by 15-18 months of age
• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

homeostasis/metabolism
• transplacental administration of ENU accelerates renal tumorigenesis compared to controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
tuberous sclerosis DOID:13515 OMIM:191100
OMIM:613254
J:70463


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/11/2018
MGI 6.12
The Jackson Laboratory