Tsc2^tm2.2Djk
Targeted Allele Detail

Summary

• Symbol: Tsc2^tm2.2Djk
• Name: TSC complex subunit 2; targeted mutation 2.2, David J Kwiatkowski
• MGI ID: MGI:4354601
• Synonyms: Tsc2^del3
• Gene: Tsc2 Location: Chr17:24814790-24851604 bp, - strand Genetic Position: Chr17, 12.41 cM
• Alliance: Tsc2^tm2.2Djk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:149326
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 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 Tsc2^tm2Djk locus by crossing with mice expressing Cre recombinase in the germline. This allele is hypomorphic allele. (J:149326)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 78 strains or lines available

References

• 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: 4 reference(s)