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Kittm5.1Bsm
Targeted Allele Detail
Summary
Symbol: Kittm5.1Bsm
Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 5.1, Peter Besmer
MGI ID: MGI:5510143
Synonyms: KitV558delta
Gene: Kit  Location: Chr5:75735647-75817382 bp, + strand  Genetic Position: Chr5, 39.55 cM
Alliance: Kittm5.1Bsm page
Cecal gastrointestinal stromal tumor and gastric/colonic interstatial cell of Cajal hyperplasia in Kittm5.1Bsm/Kit+ and Kittm4.1Bsm/Kit+ mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:188434
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA single point mutation deleting valine 558 was introduced to exon 11 and a floxed neomycin resistance cassette was introduced to intron 11 via homologous recombination. Cre-mediated recombination removed the neomycin resistance cassette. (J:188434)
Generation of the Kittm5.1Bsm allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Kit Mutation:  179 strains or lines available
References
Original:  J:188434 Bosbach B, et al., Imatinib resistance and microcytic erythrocytosis in a KitV558Delta;T669I/+ gatekeeper-mutant mouse model of gastrointestinal stromal tumor. Proc Natl Acad Sci U S A. 2012 Aug 21;109(34):E2276-83
All:  1 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
04/16/2024
MGI 6.23
The Jackson Laboratory