Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

Symbol:	Tsc1tm1.1Djk
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:	Tsc1tm1.1Djk page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

11 anatomical structure(s)

List all tumor models in MMHCdb carrying Tsc1tm1.1Djk

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:	69 strains or lines available

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)