Mouse Genome Informatics
hm1
    Tsc1tm1Hin/Tsc1tm1Hin
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Analysis of Tsc1tm1Hin/Tsc1tm1Hin embryos

mortality/aging
• most embryos die between E10.5 and E11.5, although some survive to E12.5

growth/size
• embryos alive at E9-12.5 are smaller

embryogenesis
• embryos alive at E9-12.5 are smaller
• 6 of 19 embryos exhibit neural tube unclosure at the head region; the neural tube is disorganized in these embryos

nervous system
• 6 of 19 embryos exhibit neural tube unclosure at the head region; the neural tube is disorganized in these embryos

cardiovascular system
• hearts of some embryos exhibit abnormal morphology of myocardial cells

liver/biliary system


Mouse Genome Informatics
ht2
    Tsc1tm1Hin/Tsc1+
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Renal tumors in Tsc1tm1Hin/Tsc1+ mice

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

tumorigenesis
• 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
• 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
• detect leiomyoma/leiomyosarcoma in the uterus (J:70463)
• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age
• detect leiomyoma/leiomyosarcoma in the uterus

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

Mouse Models of Human Disease
OMIM IDRef(s)
Tuberous Sclerosis 1; TSC1 191100 J:70463