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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tsc2tm1Mjg
targeted mutation 1, Michael J Gambello
MGI:3712062
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tsc2tm1Mjg/Tsc2tm1Mjg involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3712789
ht2
 		Tsc2tm1Mjg/Tsc2+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3712790


Genotype
MGI:3712789
hm1
Allelic
Composition		 Tsc2tm1Mjg/Tsc2tm1Mjg
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2tm1Mjg 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 )
• no homozygous mice are born; analysis of embryos show that majority die at midgestation with many resorptions observed, but homozygous embryos are identified at 13, 15, and 17 days post coitum in contrast to previous reports in which no homozygous null embryos are found at these time points
prenatal lethality, complete penetrance ( J:121748 )
• no homozygous mice are born

embryo
decreased embryo size ( J:121748 )
• most embryos are smaller than wild-type or heterozygous embryos
open neural tube ( J:121748 )
• one embryo was found to have an open neural tube at E12.5, similar to reports for homozygous null embryos

growth/size/body
decreased embryo size ( J:121748 )
• most embryos are smaller than wild-type or heterozygous embryos

nervous system
open neural tube ( J:121748 )
• one embryo was found to have an open neural tube at E12.5, similar to reports for homozygous null embryos

integument
pallor ( J:121748 )
• most embryos are paler than wild-type or heterozygous embryos




Genotype
MGI:3712790
ht2
Allelic
Composition		 Tsc2tm1Mjg/Tsc2+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tsc2tm1Mjg 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 )
• heterozygotes develop renal cysts after 1 year of age, but no renal tumors were identified like in reports for homozygous nulls by 1 year of age

growth/size/body
kidney cyst ( J:121748 )
• heterozygotes develop renal cysts after 1 year of age, but no renal tumors were identified like in reports for homozygous nulls by 1 year of age




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
12/10/2024
MGI 6.24 		The Jackson Laboratory