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Tsc1tm1.1Djk
Targeted Allele Detail
Nomenclature
Symbol: Tsc1tm1.1Djk
Name: tuberous sclerosis 1; targeted mutation 1.1, David J Kwiatkowski
MGI ID: MGI:2183900
Synonyms: Tsc1-
Gene: Tsc1  Location: Chr2:28641228-28691167 bp, + strand  Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1
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 detailsA 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)
Phenotypes
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Disease models
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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 Tsc1 Mutation:  27 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:  12 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
02/17/2015
MGI 5.21
The Jackson Laboratory