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Targeted Allele Detail
Symbol: Kittm4.1Bsm
Name: kit oncogene; targeted mutation 4.1, Peter Besmer
MGI ID: MGI:5442620
Synonyms: KitV558delta;T669I
Gene: Kit  Location: Chr5:75574916-75656722 bp, + strand  Genetic Position: Chr5, 39.55 cM
Alopecia and 'red paw' in Kittm4.1Bsm/Kit+ mice

Show the 4 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:188434
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA single point mutation deleting valine 558 was introduced to exon 11 and a floxed neo cassette was introduced to intron 9 via homologous recombination. A second point mutation was introduced to exon 14 (ACA to ATA) that results in the amino acid substitution of isoleucine for threonine at position 669 (T669I). These point mutations mimic a valine 559 deletion and a T670I amino acid substitution found in a case of human somatic gastrointestinal stromal tumor (GIST). Cre-mediated recombination removed the neo cassette. (J:188434)
Generation of the Kittm4.1Bsm/Kit+ allele containing the V558delta and T669I mutations
View phenotypes for all genotypes (concatenated display).
Disease models
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:  133 strains or lines available
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:  2 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 6.03
The Jackson Laboratory