Kit^W-Jic
Spontaneous Allele Detail

Summary

• Symbol: Kit^W-Jic
• Name: KIT proto-oncogene receptor tyrosine kinase; dominant spotting Central Institute for Experimental Animals, Japan
• MGI ID: MGI:1856511
• Synonyms: Kawasaki dominant spotting
• Gene: Kit Location: Chr5:75735647-75817382 bp, + strand Genetic Position: Chr5, 39.55 cM
• Alliance: Kit^W-Jic page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Analysis of cDNA showed this allele comprises a G-to-A transition at coding nucleotide 1783 (in transcript NM_001122733) in the tyrosine kinase domain, resulting in a change of glycine to arginine at position 595 (p.G595R). (J:27513)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

1 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:27513 Tsujimura T, et al., Mast cell number in the skin of heterozygotes reflects the molecular nature of c-kit mutation. Blood. 1993 May 15;81(10):2530-8
• All: 1 reference(s)