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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tsc1tm1Chdl
targeted mutation 1, Jeremy P Cheadle
MGI:3584174
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tsc1tm1Chdl/Tsc1tm1Chdl B6NHsd.129P2-Tsc1tm1Chdl MGI:4949085
hm2
Tsc1tm1Chdl/Tsc1tm1Chdl involves: 129P2/OlaHsd * C57BL/6JOlaHsd MGI:3587757
ht3
Tsc1tm1Chdl/Tsc1+ involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd MGI:3587766
ht4
Tsc1tm1Chdl/Tsc1+ involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd MGI:3587768
ht5
Tsc1tm1Chdl/Tsc1+ involves: 129P2/OlaHsd * C57BL/6JOlaHsd MGI:3587764
cx6
Rhebtm1.1Yelg/Rheb+
Tsc1tm1Chdl/Tsc1tm1Chdl
B6.129P2-Tsc1tm1Chdl Rhebtm1.1Yelg MGI:4949084


Genotype
MGI:4949085
hm1
Allelic
Composition
Tsc1tm1Chdl/Tsc1tm1Chdl
Genetic
Background
B6NHsd.129P2-Tsc1tm1Chdl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1tm1Chdl mutation (0 available); any Tsc1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

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

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




Genotype
MGI:3587757
hm2
Allelic
Composition
Tsc1tm1Chdl/Tsc1tm1Chdl
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6JOlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1tm1Chdl mutation (0 available); any Tsc1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• died between E10.5 and E12.5
• no viable null embryos were observed at E13.5

embryo
• 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




Genotype
MGI:3587766
ht3
Allelic
Composition
Tsc1tm1Chdl/Tsc1+
Genetic
Background
involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1tm1Chdl mutation (0 available); any Tsc1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice

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
• 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
• 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

neoplasm
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
• 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
• 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 ID Ref(s)
Tuberous Sclerosis 1; TSC1 191100 J:99796




Genotype
MGI:3587768
ht4
Allelic
Composition
Tsc1tm1Chdl/Tsc1+
Genetic
Background
involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1tm1Chdl mutation (0 available); any Tsc1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice

renal/urinary system
• 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
• 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

neoplasm
• 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 ID Ref(s)
Tuberous Sclerosis 1; TSC1 191100 J:99796




Genotype
MGI:3587764
ht5
Allelic
Composition
Tsc1tm1Chdl/Tsc1+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6JOlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1tm1Chdl mutation (0 available); any Tsc1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice

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
• 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
• 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

neoplasm
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
• 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
• 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 ID Ref(s)
Tuberous Sclerosis 1; TSC1 191100 J:99796




Genotype
MGI:4949084
cx6
Allelic
Composition
Rhebtm1.1Yelg/Rheb+
Tsc1tm1Chdl/Tsc1tm1Chdl
Genetic
Background
B6.129P2-Tsc1tm1Chdl Rhebtm1.1Yelg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhebtm1.1Yelg mutation (0 available); any Rheb mutation (16 available)
Tsc1tm1Chdl mutation (0 available); any Tsc1 mutation (43 available)
phenotype observed in females
phenotype observed in males
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

embryo





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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory