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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tsc2tm1.2Mjg
targeted mutation 1.2, Michael J Gambello
MGI:3712064
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tsc2tm1.2Mjg/Tsc2tm1.2Mjg involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:3712784
ht2
 		Tsc2tm1.2Mjg/Tsc2+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL MGI:3712785
cn3
 		Tg(Pcp2-cre)2Mpin/0
Tsc2tm1.1Mjg/Tsc2tm1.2Mjg 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5140838


Genotype
MGI:3712784
hm1
Allelic
Composition		 Tsc2tm1.2Mjg/Tsc2tm1.2Mjg
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2tm1.2Mjg mutation (0 available); any Tsc2 mutation (78 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, incomplete penetrance ( J:121748 )
• most embryos display midgestation lethality similar to published reports

embryo
embryonic growth retardation ( J:121748 )
• embryos show severe growth retardation (E12.5)

growth/size/body
embryonic growth retardation ( J:121748 )
• embryos show severe growth retardation (E12.5)




Genotype
MGI:3712785
ht2
Allelic
Composition		 Tsc2tm1.2Mjg/Tsc2+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2tm1.2Mjg mutation (0 available); any Tsc2 mutation (78 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
kidney cyst ( J:121748 )
• within first year, lesions consisting of renal cysts are found in some heterozygotes, similar to previous reports of heterozygous mice

neoplasm
increased adenoma incidence ( J:121748 )
• with first year of life, frank tumors are observed in the kidneys; cystadenomas and renal tumors with abnormal giant cells are observed

growth/size/body
kidney cyst ( J:121748 )
• within first year, lesions consisting of renal cysts are found in some heterozygotes, similar to previous reports of heterozygous mice




Genotype
MGI:5140838
cn3
Allelic
Composition		 Tg(Pcp2-cre)2Mpin/0
Tsc2tm1.1Mjg/Tsc2tm1.2Mjg
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Pcp2-cre)2Mpin mutation (1 available)
Tsc2tm1.1Mjg mutation (1 available); any Tsc2 mutation (78 available)
Tsc2tm1.2Mjg mutation (0 available); any Tsc2 mutation (78 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:174327 )
• 10% of mutants exhibit spontaneous deaths before weaning; cause of death is unknown

nervous system
seizures ( J:174327 )
• some mutants exhibit seizures
abnormal Purkinje cell morphology ( J:174327 )
• Purkinje cells are larger than in wild-type mice
Purkinje cell degeneration ( J:174327 )
• mutants exhibit Purkinje cell loss beginning at one month of age which becomes progressively more pronounced over time
• by 7 months of age, mutants lose more Purkinje cells than Tsc2tm1.1Mjg/Tsc2tm1.1Mjg Tg(Pcp2-cre)2Mpin/0 mice

behavior/neurological
seizures ( J:174327 )
• some mutants exhibit seizures

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
tuberous sclerosis DOID:13515 OMIM:PS191100
 J:174327




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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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory