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Kittm2Bsm
Targeted Allele Detail
Nomenclature
Symbol: Kittm2Bsm
Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 2, Peter Besmer
MGI ID: MGI:2663995
Synonyms: KitV558delta
Gene: Kit  Location: Chr5:75574987-75656722 bp, + strand  Genetic Position: Chr5, 39.55 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:83616
Parent Cell Line:  GSI-1 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
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. This point mutation mimics a valine 559 deletion found in a case of human somatic gastrointestinal stromal tumor (GIST). The floxed neo cassette was subsequently removed by mating mutant animals to cre deleter strain TgN(EIIa-cre)C5379Lmgd. The integrity of the V558 deletion was confirmed by DNA sequence analysis. (J:83616)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  99 strains or lines available
References
Original:  J:83616 Sommer G, et al., Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase. Proc Natl Acad Sci U S A. 2003 May 27;100(11):6706-11
All:  9 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
02/23/2021
MGI 6.16
The Jackson Laboratory