Kit^tm1Hntr
Targeted Allele Detail

Summary

• Symbol: Kit^tm1Hntr
• Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 1, Tony Hunter
• MGI ID: MGI:2181624
• Synonyms: F, Y719F
• Gene: Kit Location: Chr5:75735647-75817382 bp, + strand Genetic Position: Chr5, 39.55 cM
• Alliance: Kit^tm1Hntr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:60192
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: An engineered point mutation in codon 719 resulted in a tyrosine to phenylalanine substitution (Y719F). Western blot analysis showed the level of mutant protein in homozygous mutant mice to be similar to that of the wild-type protein in wild-type mice. PI 3'-kinase activity was determined to be reduced by approximately 90% via assays of the PI 3'-kinase dependent activation of Akt. (J:60192)

Expression

In Structures Affected by this Mutation:

4 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

Notes

This ES cell line contained a cre recombinase gene under the control of the protamine-1 promoter, which is active in male haploid germ cells.

References

• Original: J:60192 Blume-Jensen P, et al., Kit/stem cell factor receptor-induced activation of phosphatidylinositol 3'-kinase is essential for male fertility. Nat Genet. 2000 Feb;24(2):157-62
• All: 1 reference(s)