All Phenotypes Tsc1<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tsc1⁺
wild type
MGI:2436877

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tsc1^tm1Hin/Tsc1⁺	B6J.129S4-Tsc1^tm1Hin	MGI:5641392
ht2	Tsc1^{em1(IMPC)Ccpcz}/Tsc1⁺	C57BL/6NCrl-Tsc1^{em1(IMPC)Ccpcz}/Ccpcz	MGI:7768445
ht3	Tsc1^tm1.1Djk/Tsc1⁺	either: 129S4/SvJae-Tsc1^tm1Djk or (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * C57BL/6J)	MGI:3588773
ht4	Tsc1^tm1Chdl/Tsc1⁺	involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd	MGI:3587766
ht5	Tsc1^tm1Chdl/Tsc1⁺	involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd	MGI:3587768
ht6	Tsc1^tm1Chdl/Tsc1⁺	involves: 129P2/OlaHsd * C57BL/6JOlaHsd	MGI:3587764
ht7	Tsc1^tm1Hin/Tsc1⁺	involves: 129S4/SvJae * C57BL/6J	MGI:3708979
cn8	Tsc1^tm1Djk/Tsc1⁺ Tg(Pcp2-cre)2Mpin/0	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/cJ * C57BL/6J	MGI:5641482
cn9	Lin28b^tm1Gqda/Lin28b^tm1Gqda Myf5^tm1(cre)Mrc/Myf5⁺ Tsc1^tm1Djk/Tsc1⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5519081
cn10	Slc38a1^tm1.1Ttaka/Slc38a1^tm1.1Ttaka Tsc1^tm1Djk/Tsc1⁺ Tg(Syn1-cre)671Jxm/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6NCrlj * CBA * CBA/JNCrlj	MGI:6441084
cx11	Lin28a^tm1.1Gqda/Lin28a^tm1.1Gqda Tsc1^tm1.1Djk/Tsc1⁺	involves: 129S4/SvJae * C57BL/6	MGI:5519079
cx12	Lin28b^tm1.1Gqda/Lin28b^tm1.1Gqda Tsc1^tm1.1Djk/Tsc1⁺	involves: 129S4/SvJae * C57BL/6 * FVB	MGI:5519080

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 (68 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

Allelic Composition	Tsc1^{em1(IMPC)Ccpcz}/Tsc1⁺
Genetic Background	C57BL/6NCrl-Tsc1^{em1(IMPC)Ccpcz}/Ccpcz

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1^{em1(IMPC)Ccpcz} mutation (1 available); any Tsc1 mutation (68 available)

Data Sources

IMPC Data for Tsc1

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

behavior/neurological

increased startle reflex ( J:211773 )

IMPC - CCP-IMG

cardiovascular system

abnormal retina vasculature morphology ( J:211773 )

IMPC - CCP-IMG

endocrine/exocrine glands

abnormal thymus morphology ( J:211773 )

IMPC - CCP-IMG

enlarged thymus ( J:211773 )

IMPC - CCP-IMG

hematopoietic system

abnormal thymus morphology ( J:211773 )

IMPC - CCP-IMG

enlarged thymus ( J:211773 )

IMPC - CCP-IMG

immune system

abnormal thymus morphology ( J:211773 )

IMPC - CCP-IMG

enlarged thymus ( J:211773 )

IMPC - CCP-IMG

skeleton

abnormal spine curvature ( J:211773 )

IMPC - CCP-IMG

vision/eye

abnormal retina vasculature morphology ( J:211773 )

IMPC - CCP-IMG

Allelic Composition	Tsc1^tm1.1Djk/Tsc1⁺
Genetic Background	either: 129S4/SvJae-Tsc1^tm1Djk or (involves: 129S4/SvJae * BALB/cJ) or (involves: 129S4/SvJae * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1^tm1.1Djk mutation (0 available); any Tsc1 mutation (68 available)

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

mortality/aging

premature death ( J:75243 )

• increased premature death before 18 month of age for female and in a co-isogenic 129SvJae background, due to increased incidence of severe liver hemangioma leading to spontaneous bleeding

neoplasm

increased hepatic hemangioma incidence ( J:75243 )

• consisting of aberrant vascular channels of highly variable size that often had cuboidal-columnar endothelial cells, and proliferation of smooth muscle cells

• these lesions were seen in 67% males and 93% females

• these lesions are more severe in female compared to male, causing more death in female

increased renal cystadenoma incidence ( J:75243 )

• multiple bilateral renal cystadenomas in all heterozygous mice by 15-18 months of age

• varied from pure cysts with cuboidal lining cells to cysts with papillary projections, to a solid adenomas

• Background Sensitivity: there were more cystadenomas in BALB/cJ hybrid background, but no sex difference were seen

increased renal carcinoma incidence ( J:75243 )

• 6 out of 31 heterozygous mice showed histologic features consistent with progression to renal cell carcinoma

• no evidence of metastasis was found in those mice

increased hemangiosarcoma incidence ( J:75243 )

• 1out of 31 heterozygous mice showed hemangiosarcoma of the forepaw

renal/urinary system

increased renal cystadenoma incidence ( J:75243 )

• multiple bilateral renal cystadenomas in all heterozygous mice by 15-18 months of age

• varied from pure cysts with cuboidal lining cells to cysts with papillary projections, to a solid adenomas

• Background Sensitivity: there were more cystadenomas in BALB/cJ hybrid background, but no sex difference were seen

increased renal carcinoma incidence ( J:75243 )

• 6 out of 31 heterozygous mice showed histologic features consistent with progression to renal cell carcinoma

• no evidence of metastasis was found in those mice

liver/biliary system

increased hepatic hemangioma incidence ( J:75243 )

• consisting of aberrant vascular channels of highly variable size that often had cuboidal-columnar endothelial cells, and proliferation of smooth muscle cells

• these lesions were seen in 67% males and 93% females

• these lesions are more severe in female compared to male, causing more death in female

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:75243

Allelic Composition	Tsc1^tm1Chdl/Tsc1⁺
Genetic Background	involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1^tm1Chdl mutation (0 available); any Tsc1 mutation (68 available)

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

renal/urinary system

kidney cyst ( J:99796 )

• 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

increased renal cystadenoma incidence ( J:99796 )

• 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

increased renal carcinoma incidence ( J:99796 )

• 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

neoplasm

increased hepatic hemangioma incidence ( J:99796 )

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

increased renal cystadenoma incidence ( J:99796 )

• 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

increased renal carcinoma incidence ( J:99796 )

• 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

growth/size/body

kidney cyst ( J:99796 )

• 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

liver/biliary system

increased hepatic hemangioma incidence ( J:99796 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:99796

Allelic Composition	Tsc1^tm1Chdl/Tsc1⁺
Genetic Background	involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1^tm1Chdl mutation (0 available); any Tsc1 mutation (68 available)

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

renal/urinary system

kidney cyst ( J:99796 )

• 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

increased renal cystadenoma incidence ( J:99796 )

• 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

neoplasm

increased hepatic hemangioma incidence ( J:99796 )

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

increased renal cystadenoma incidence ( J:99796 )

• 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

liver/biliary system

increased hepatic hemangioma incidence ( J:99796 )

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

growth/size/body

kidney cyst ( J:99796 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:99796

Allelic Composition	Tsc1^tm1Chdl/Tsc1⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6JOlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc1^tm1Chdl mutation (0 available); any Tsc1 mutation (68 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:99796 )

• 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

kidney cyst ( J:99796 )

• 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

increased renal cystadenoma incidence ( J:99796 )

• 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

increased renal carcinoma incidence ( J:99796 )

• 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

neoplasm

increased hepatic hemangioma incidence ( J:99796 )

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

increased renal cystadenoma incidence ( J:99796 )

• 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

increased renal carcinoma incidence ( J:99796 )

• 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

liver/biliary system

increased hepatic hemangioma incidence ( J:99796 )

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

growth/size/body

kidney cyst ( J:99796 )

• 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:99796

Allelic Composition	Tsc1^tm1Hin/Tsc1⁺
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 (68 available)

♀	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

Allelic Composition	Tsc1^tm1Djk/Tsc1⁺ Tg(Pcp2-cre)2Mpin/0
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * BALB/cJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
Tsc1^tm1Djk mutation (2 available); any Tsc1 mutation (68 available)

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

behavior/neurological

abnormal response to novel odor ( J:186699 )

• mice show reduced investigation of social odors compared with controls, suggesting impaired discrimination of social olfactory cues

• however, mice show normal investigation of non-social olfactory cues

increased grooming behavior ( J:186699 )

• increase in self-grooming rates

abnormal sexual interaction ( J:186699 )

• mice show impaired male-female social interactions, with reductions in the time that mice spend interacting compared to controls

abnormal social investigation ( J:186699 )

• in a 3-chambered assay of social approach and preference for social novelty, mice exhibit social impairments, showing no differences between the time spend in the chamber or in interaction with the novel mouse versus the novel object unlike controls

• in a social novelty paradigm, mice show no preference for social novelty

excessive vocalization ( J:186699 )

• P5-P12 pups show increased vocalizations

nervous system

abnormal Purkinje cell dendrite morphology ( J:186699 )

• increase in spine density on Purkinje cell dendrites

abnormal neuron physiology ( J:186699 )

• Purkinje cell excitability is reduced, with Purkinje cells showing lower, graded spontaneous spiking rate, and current injection evokes fewer action potentials in Purkinje cells

• injection of small hyperpolarizing currents results in smaller voltage changes in Purkinje cells, indicating a decrease in the effective input resistance

• despite receiving normal functioning synaptic inputs, the output of the cerebellar cortex is reduced, both tonically and in response to incoming excitatory drive

Allelic Composition	Lin28b^tm1Gqda/Lin28b^tm1Gqda Myf5^tm1(cre)Mrc/Myf5⁺ Tsc1^tm1Djk/Tsc1⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lin28b^tm1Gqda mutation (0 available); any Lin28b mutation (22 available)
Myf5^tm1(cre)Mrc mutation (1 available); any Myf5 mutation (18 available)
Tsc1^tm1Djk mutation (2 available); any Tsc1 mutation (68 available)

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

growth/size/body

growth/size/body region phenotype ( J:199720 )

N	• male mice exhibit normal growth

Allelic Composition	Slc38a1^tm1.1Ttaka/Slc38a1^tm1.1Ttaka Tsc1^tm1Djk/Tsc1⁺ Tg(Syn1-cre)671Jxm/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * C57BL/6NCrlj * CBA * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc38a1^tm1.1Ttaka mutation (1 available); any Slc38a1 mutation (31 available)
Tg(Syn1-cre)671Jxm mutation (1 available)
Tsc1^tm1Djk mutation (2 available); any Tsc1 mutation (68 available)

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

nervous system

nervous system phenotype ( J:288818 )

N	• normal susceptibility to ischemic brain injury after applying middle cerebral artery occlusion (MCAO)

Allelic Composition	Lin28a^tm1.1Gqda/Lin28a^tm1.1Gqda Tsc1^tm1.1Djk/Tsc1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lin28a^tm1.1Gqda mutation (1 available); any Lin28a mutation (78 available)
Tsc1^tm1.1Djk mutation (0 available); any Tsc1 mutation (68 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:199720 )

• as in Lin28a^tm1.1Gqda homozygotes

growth/size/body

decreased body size ( J:199720 )

• dwarfism as in Lin28a^tm1.1Gqda homozygotes

Allelic Composition	Lin28b^tm1.1Gqda/Lin28b^tm1.1Gqda Tsc1^tm1.1Djk/Tsc1⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6 * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lin28b^tm1.1Gqda mutation (1 available); any Lin28b mutation (22 available)
Tsc1^tm1.1Djk mutation (0 available); any Tsc1 mutation (68 available)

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

growth/size/body

growth/size/body region phenotype ( J:199720 )

N	• male mice exhibit normal growth

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