Kit^tm1Shta
Targeted Allele Detail

Summary

• Symbol: Kit^tm1Shta
• Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 1, Shonzo Hirota
• MGI ID: MGI:3773048
• Synonyms: KIT-Asp818Tyr
• Gene: Kit Location: Chr5:75735647-75817382 bp, + strand Genetic Position: Chr5, 39.55 cM
• Alliance: Kit^tm1Shta page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:130890
• Parent Cell Line: iTL1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A floxed neo cassette and an exon 17 carrying a nucleotide substitution that results in an amino acid substitution of tyrosine for aspartic acid at position 818 (D818Y) was knocked into the open reading frame. The neo cassette was subsequently removed by germ-line, cre-mediated recombination. (J:130890)

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: 182 strains or lines available

References

• Original: J:130890 Nakai N, et al., A mouse model of a human multiple GIST family with KIT-Asp820Tyr mutation generated by a knock-in strategy. J Pathol. 2008 Feb;214(3):302-11
• All: 2 reference(s)