Kit^tm4.1Bsm
Targeted Allele Detail

Summary

• Symbol: Kit^tm4.1Bsm
• Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 4.1, Peter Besmer
• MGI ID: MGI:5442620
• Synonyms: Kit^{V558delta;T669I}
• Gene: Kit Location: Chr5:75735647-75817382 bp, + strand Genetic Position: Chr5, 39.55 cM
• Alliance: Kit^tm4.1Bsm page

Alopecia and 'red paw' in Kit^tm4.1Bsm/Kit⁺ mice

Show the 4 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, Nucleotide substitutions 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. 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 Kit^tm4.1Bsm/Kit^+ allele containing the V558delta and T669I mutations

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 3 reference(s)