Mouse Genome Informatics
hm1
    Tsc1tm1Hin/Tsc1tm1Hin
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
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/body
• 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+
B6J.129S4-Tsc1tm1Hin
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• males spend less time in the dark chamber of the light/dark box, suggesting low anxiety
• in the tail flick test, males have a longer latencies than females
• increase in rearing behavior
• treatment with rapamycin attenuates rearing behavior
• mice spend a shorter time engaged in active interaction with a novel mouse than wild-type mice
• however, mice are not altered in social dominance, exhibit normal olfaction and exploration towards an inanimate object, and show intact motor and sensory function
• treatment with rapamycin extends the time of active interaction with a novel mouse

integument
• in the tail flick test, males have a longer latencies than females

Mouse Models of Human Disease
OMIM IDRef(s)
Autism 209850 J:221239
Tuberous Sclerosis 1; TSC1 191100 J:221239


Mouse Genome Informatics
ht3
    Tsc1tm1Hin/Tsc1+
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
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
• 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