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Gtf2itm1Ggcn
Targeted Allele Detail
Summary
Symbol: Gtf2itm1Ggcn
Name: general transcription factor II I; targeted mutation 1, Giuseppe Giaccone
MGI ID: MGI:7327126
Synonyms: Gtf2i L424H floxed KI
Gene: Gtf2i  Location: Chr5:134266688-134343614 bp, - strand  Genetic Position: Chr5, 74.48 cM
Alliance: Gtf2itm1Ggcn page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:350001
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6NCr
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe targeting vector is designed to insert a cassette containing floxed exons 15-34 and a mutated endogenous exon 15 downstream of the cassette. Specifically, the vector included, from 5' to 3', a loxP site, splice acceptor, cDNA encoding exons 15-34, a STOP cassette, a PGK-neo cassette, and a second loxP site downstream of endogenous exon 14. Downstream of the cassette, endogenous exon 15 was modified to harbor a Chr. 7: 74146970 T to A substitution, resulting in a leucine to histidine mutation (L424H), identified as the most frequent mutation in human thymic epithelial tumors (TETs). (J:101977, J:350001)
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
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 Gtf2i Mutation:  137 strains or lines available
References
Original:  J:350001 He Y, et al., A Knock-In Mouse Model of Thymoma With the GTF2I L424H Mutation. J Thorac Oncol. 2022 Dec;17(12):1375-1386
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory