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Targeted Allele Detail
Symbol: Tsc2tm2.2Djk
Name: tuberous sclerosis 2; targeted mutation 2.2, David J Kwiatkowski
MGI ID: MGI:4354601
Synonyms: Tsc2del3
Gene: Tsc2  Location: Chr17:24595937-24632629 bp, - strand  Genetic Position: Chr17, 12.41 cM
Germline Transmission:  Earliest citation of germline transmission: J:149326
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExons 3 of Tsc2 which consists of 111 bp, encoding 37 amino acids near the N terminus of the protein (note that in some schemes this is counted as exon 4; however in accordance with human TSC2 gene, always denoted this as exon 3, labeling a 5' untranslated exon as 1a) was removed from the Tsc2tm2Djk locus by crossing with mice expressing Cre recombinase in the germline. This allele is hypomorphic allele. (J:149326)
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Tsc2 Mutation:  4 strains or lines available
Original:  J:149326 Pollizzi K, et al., A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet. 2009 Jul 1;18(13):2378-87
All:  3 reference(s)

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
MGI 6.01
The Jackson Laboratory