Mouse Genome Informatics
hm1
    Tsc1tm1Chdl/Tsc1tm1Chdl
B6NHsd.129P2-Tsc1tm1Chdl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice die between E10.5 and E13.5

cellular
• at E11.5, embryos are severely apoptotic unlike wild-type mice


Mouse Genome Informatics
hm2
    Tsc1tm1Chdl/Tsc1tm1Chdl
involves: 129P2/OlaHsd * C57BL/6JOlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• died between E10.5 and E12.5
• no viable null embryos were observed at E13.5

embryogenesis
• generally smaller and developmentally retarded

growth/size/body
• generally smaller and developmentally retarded

nervous system
• two out of 12 null embryos displayed exencephaly

cardiovascular system
• at E12.5, two out of 2 null embryos had abnormal vacuolation of myocardial cells


Mouse Genome Informatics
ht3
    Tsc1tm1Chdl/Tsc1+
involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month
• onset and frequency are less severe compared to background involving C3H

tumorigenesis
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month
• onset and frequency are less severe compared to background involving C3H
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
• 80% of mice with solid renal cell carcinoma (RCC) by 15-18 month
• many RCC were larger than 5 mm which resulted in grossly deformed kidney

Mouse Models of Human Disease
OMIM IDRef(s)
Tuberous Sclerosis 1; TSC1 191100 J:99796


Mouse Genome Informatics
ht4
    Tsc1tm1Chdl/Tsc1+
involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
renal/urinary system
• 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

tumorigenesis
• 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
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice

Mouse Models of Human Disease
OMIM IDRef(s)
Tuberous Sclerosis 1; TSC1 191100 J:99796


Mouse Genome Informatics
ht5
    Tsc1tm1Chdl/Tsc1+
involves: 129P2/OlaHsd * C57BL/6JOlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 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
• 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

tumorigenesis
• 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
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Tuberous Sclerosis 1; TSC1 191100 J:99796


Mouse Genome Informatics
cx6
    Rhebtm1.1Yelg/Rheb+
Tsc1tm1Chdl/Tsc1tm1Chdl

B6.129P2-Tsc1tm1Chdl Rhebtm1.1Yelg
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice die between E15.5 and birth unlike Tsc1tm1Chdl heterozygotes which die between E10.5 and E13.5

growth/size/body

cellular
• in E15.5 embryos