Kit^tm2Bsm
Targeted Allele Detail

Summary

• Symbol: Kit^tm2Bsm
• Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 2, Peter Besmer
• MGI ID: MGI:2663995
• Synonyms: Kit^V558delta
• Gene: Kit Location: Chr5:75735647-75817382 bp, + strand Genetic Position: Chr5, 39.55 cM
• Alliance: Kit^tm2Bsm page

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 details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Kit^tm2Bsm

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: 177 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)