All Phenotypes Tsc1<tm1Hin> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tsc1^tm1Hin/Tsc1^tm1Hin	involves: 129S4/SvJae * C57BL/6J	MGI:3708978
ht2	Tsc1^tm1Hin/Tsc1⁺	B6J.129S4-Tsc1^tm1Hin	MGI:5641392
ht3	Tsc1^tm1Hin/Tsc1⁺	involves: 129S4/SvJae * C57BL/6J	MGI:3708979

Allelic Composition	Tsc1^tm1Hin/Tsc1^tm1Hin
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1^tm1Hin mutation (0 available); any Tsc1 mutation (71 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Analysis of Tsc1^tm1Hin/Tsc1^tm1Hin embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:70463 )

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

growth/size/body

decreased embryo size ( J:70463 )

• embryos alive at E9-12.5 are smaller

embryo

decreased embryo size ( J:70463 )

• embryos alive at E9-12.5 are smaller

open neural tube ( J:70463 )

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

nervous system

open neural tube ( J:70463 )

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

exencephaly ( J:70463 )

cardiovascular system

abnormal fetal cardiomyocyte morphology ( J:70463 )

• hearts of some embryos exhibit abnormal morphology of myocardial cells

liver/biliary system

liver hypoplasia ( J:70463 )

Allelic Composition	Tsc1^tm1Hin/Tsc1⁺
Genetic Background	B6J.129S4-Tsc1^tm1Hin

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1^tm1Hin mutation (0 available); any Tsc1 mutation (71 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

behavior/neurological

decreased anxiety-related response ( J:221239 )

• males spend less time in the dark chamber of the light/dark box, suggesting low anxiety

hyporesponsive to tactile stimuli ( J:221239 )

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

increased vertical activity ( J:221239 )

• increase in rearing behavior

• treatment with rapamycin attenuates rearing behavior

abnormal social investigation ( J:221239 )

• 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

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder	DOID:0060041		J:221239
tuberous sclerosis	DOID:13515	OMIM:PS191100	J:221239

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Renal tumors in Tsc1^tm1Hin/Tsc1⁺ mice

mortality/aging

premature death ( J:70463 )

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

neoplasm

abnormal tumor morphology ( J:70463 )

• most tumors that develop exhibit loss of heterozygosity (LOH)

increased tumor incidence ( J:70463 )

• tumors in extremities develop with a high frequency

increased incidence of tumors by chemical induction ( J:70463 )

• transplacental administration of ENU accelerates renal tumorigenesis compared to controls

increased uterus leiomyoma incidence ( J:70463 )

• detect leiomyoma/leiomyosarcoma in the uterus

increased leiomyosarcoma incidence ( J:70463 )

• detect leiomyoma/leiomyosarcoma in the uterus

increased renal cystadenoma incidence ( J:70463 )

• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

increased hemangioma incidence ( J:70463 )

• detect hemangioma in the tail

increased hepatic hemangioma incidence ( J:70463 )

• about 80% of mutants develop hepatic hemangiomas by 15-18 months of age

increased renal carcinoma incidence ( J:70463 )

• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:70463 )

• transplacental administration of ENU accelerates renal tumorigenesis compared to controls

renal/urinary system

increased renal cystadenoma incidence ( J:70463 )

• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

increased renal carcinoma incidence ( J:70463 )

• mutants develop macroscopically visible renal carcinomas and/or renal cystadenomas by 10 months of age

muscle

increased uterus leiomyoma incidence ( J:70463 )

• detect leiomyoma/leiomyosarcoma in the uterus

increased leiomyosarcoma incidence ( J:70463 )

• detect leiomyoma/leiomyosarcoma in the uterus

liver/biliary system

increased hepatic hemangioma incidence ( J:70463 )

• about 80% of mutants develop hepatic hemangiomas by 15-18 months of age

reproductive system

increased uterus leiomyoma incidence ( J:70463 )

• detect leiomyoma/leiomyosarcoma in the uterus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:70463

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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