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Targeted Allele Detail
Symbol: Tsc1tm1Chdl
Name: tuberous sclerosis 1; targeted mutation 1, Jeremy P Cheadle
MGI ID: MGI:3584174
Synonyms: Tsc1-, Tscl1-
Gene: Tsc1  Location: Chr2:28641228-28691167 bp, + strand  Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1
Germline Transmission:  Earliest citation of germline transmission: J:99796
Parent Cell Line:  E14TG2aIV (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA beta-galactosidase cassette with a floxed neomycin resistance gene was inserted to replace the 3' half of exon 3 and all of exons 7 and 8. RT-PCR demonstrated that this replacement truncated the coding sequence in exon 6 by introducing TAG stop codons in all three reading frames and created a bicistronic transcript where beta-galactosidase was under control of the endogenous regulatory sequences by an IRES. (J:99796)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  40 strains or lines available
Original:  J:99796 Wilson C, et al., A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Hum Mol Genet. 2005 Jul 1;14(13):1839-50
All:  8 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 6.04
The Jackson Laboratory