Tsc1^tm1.1Djk
Targeted Allele Detail

Summary

• Symbol: Tsc1^tm1.1Djk
• Name: TSC complex subunit 1; targeted mutation 1.1, David J Kwiatkowski
• MGI ID: MGI:2183900
• Synonyms: Tsc1^-
• Gene: Tsc1 Location: Chr2:28531240-28581179 bp, + strand Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1
• Alliance: Tsc1^tm1.1Djk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:75243
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A floxed neo-TK cassette was inserted into the intron preceding exon 17 and a third loxP site was introduced downstream of exon 18 by homologous recombination. Transient expression of cre recombinase in correctly targeted ES cells excised the entire region contained within the 3 loxP sites resulting in a frame shift and premature translation termination. Deletion of exons 17 and 18 in ES cells was confirmed by PCR analysis. Homozygous mutant embryos were identified by PCR genotyping but could not be observed past E13.5. Western blot analysis demonstrated the absence of protein expression in mouse embryonic fibrobasts (MEFs) derived from E10-E10.5 homozygous mutants embryos. (J:75243)

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Tsc1^tm1.1Djk

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tsc1 Mutation: 71 strains or lines available

References

• Original: J:75243 Kwiatkowski DJ, et al., A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells. Hum Mol Genet. 2002 Mar 1;11(5):525-34
• All: 16 reference(s)