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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tsc1tm1Hin
targeted mutation 1, Okio Hino
MGI:2183146
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tsc1tm1Hin/Tsc1tm1Hin involves: 129S4/SvJae * C57BL/6J MGI:3708978
ht2
Tsc1tm1Hin/Tsc1+ B6J.129S4-Tsc1tm1Hin MGI:5641392
ht3
Tsc1tm1Hin/Tsc1+ involves: 129S4/SvJae * C57BL/6J MGI:3708979


Genotype
MGI:3708978
hm1
Allelic
Composition
Tsc1tm1Hin/Tsc1tm1Hin
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 (29 available)
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 (J:70463)
• most embryos die between E10.5 and E11.5, although some survive to E12.5 (J:70463)

growth/size/body
• embryos alive at E9-12.5 are smaller (J:70463)
• embryos alive at E9-12.5 are smaller (J:70463)

embryogenesis
• embryos alive at E9-12.5 are smaller (J:70463)
• embryos alive at E9-12.5 are smaller (J:70463)
• 6 of 19 embryos exhibit neural tube unclosure at the head region; the neural tube is disorganized in these embryos (J:70463)
• 6 of 19 embryos exhibit neural tube unclosure at the head region; the neural tube is disorganized in these embryos (J:70463)

nervous system
• 6 of 19 embryos exhibit neural tube unclosure at the head region; the neural tube is disorganized in these embryos (J:70463)
• 6 of 19 embryos exhibit neural tube unclosure at the head region; the neural tube is disorganized in these embryos (J:70463)

cardiovascular system
• hearts of some embryos exhibit abnormal morphology of myocardial cells (J:70463)
• hearts of some embryos exhibit abnormal morphology of myocardial cells (J:70463)

liver/biliary system




Genotype
MGI:5641392
ht2
Allelic
Composition
Tsc1tm1Hin/Tsc1+
Genetic
Background
B6J.129S4-Tsc1tm1Hin
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1tm1Hin mutation (0 available); any Tsc1 mutation (29 available)
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 (J:221239)
• males spend less time in the dark chamber of the light/dark box, suggesting low anxiety (J:221239)
• in the tail flick test, males have a longer latencies than females (J:221239)
• in the tail flick test, males have a longer latencies than females (J:221239)
• increase in rearing behavior (J:221239)
• treatment with rapamycin attenuates rearing behavior (J:221239)
• increase in rearing behavior (J:221239)
• treatment with rapamycin attenuates rearing behavior (J:221239)
• mice spend a shorter time engaged in active interaction with a novel mouse than wild-type mice (J:221239)
• however, mice are not altered in social dominance, exhibit normal olfaction and exploration towards an inanimate object, and show intact motor and sensory function (J:221239)
• treatment with rapamycin extends the time of active interaction with a novel mouse (J:221239)
• mice spend a shorter time engaged in active interaction with a novel mouse than wild-type mice (J:221239)
• however, mice are not altered in social dominance, exhibit normal olfaction and exploration towards an inanimate object, and show intact motor and sensory function (J:221239)
• treatment with rapamycin extends the time of active interaction with a novel mouse (J:221239)

integument
• in the tail flick test, males have a longer latencies than females (J:221239)
• in the tail flick test, males have a longer latencies than females (J:221239)

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




Genotype
MGI:3708979
ht3
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 (29 available)
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 (J:70463)
• notice sudden death of heterozygotes older than 18 months of age, probably as a result of the rupture of huge hepatic hemangiomas (J:70463)

tumorigenesis
• most tumors that develop exhibit loss of heterozygosity (LOH) (J:70463)
• most tumors that develop exhibit loss of heterozygosity (LOH) (J:70463)
• tumors in extremities develop with a high frequency (J:70463)
• tumors in extremities develop with a high frequency (J:70463)
• transplacental administration of ENU accelerates renal tumorigenesis compared to controls (J:70463)
• transplacental administration of ENU accelerates renal tumorigenesis compared to controls (J:70463)
• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age (J:70463)
• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age (J:70463)
• detect hemangioma in the tail (J:70463)
• detect hemangioma in the tail (J:70463)
• about 80% of mutants develop hepatic hemangiomas by 15-18 months of age (J:70463)
• about 80% of mutants develop hepatic hemangiomas by 15-18 months of age (J:70463)
• detect leiomyoma/leiomyosarcoma in the uterus (J:70463)
• detect leiomyoma/leiomyosarcoma in the uterus (J:70463)
• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age (J:70463)
• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age (J:70463)
• detect leiomyoma/leiomyosarcoma in the uterus (J:70463)
• detect leiomyoma/leiomyosarcoma in the uterus (J:70463)

homeostasis/metabolism
• transplacental administration of ENU accelerates renal tumorigenesis compared to controls (J:70463)
• transplacental administration of ENU accelerates renal tumorigenesis compared to controls (J:70463)

Mouse Models of Human Disease
OMIM ID Ref(s)
Tuberous Sclerosis 1; TSC1 191100 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
01/26/2016
MGI 6.02
The Jackson Laboratory